#ID(s) interactor A ID(s) interactor B Alt. ID(s) interactor A Alt. ID(s) interactor B Alias(es) interactor A Alias(es) interactor B Interaction detection method(s) Publication 1st author(s) Publication Identifier(s) Taxid interactor A Taxid interactor B Interaction type(s) Source database(s) Interaction identifier(s) Confidence value(s) Expansion method(s) Biological role(s) interactor A Biological role(s) interactor B Experimental role(s) interactor A Experimental role(s) interactor B Type(s) interactor A Type(s) interactor B Xref(s) interactor A Xref(s) interactor B Interaction Xref(s) Annotation(s) interactor A Annotation(s) interactor B Interaction annotation(s) Host organism(s) Interaction parameter(s) Creation date Update date Checksum(s) interactor A Checksum(s) interactor B Interaction Checksum(s) Negative Feature(s) interactor A Feature(s) interactor B Stoichiometry(s) interactor A Stoichiometry(s) interactor B Identification method participant A Identification method participant B uniprotkb:P53673 uniprotkb:P53673 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0018"(two hybrid) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22091497|imex:IM-27435-1 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 - function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 4E,F|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2019/10/16 2019/10/16 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:DC9gN3CVS0pCoTkKNzYxpF1FkGc false mutation increasing interaction strength:64-64 mutation increasing interaction strength:64-64 - - psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:P53674 uniprotkb:P53673 intact:EBI-7519424|intact:MINT-8162887|intact:MINT-5161833|ensembl:ENSP00000497249 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crbb1_human(display_long)|uniprotkb:CRYBB1(gene name)|psi-mi:CRYBB1(display_short)|uniprotkb:Beta-B1 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0018"(two hybrid) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22091599|imex:IM-27435-13 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011528201.1|refseq:NP_001878.1|ensembl:ENSG00000100122(gene)|ensembl:ENST00000647684(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033059|mint:P53674|rcsb pdb:1OKI refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 - function:"Defects in CRYBB1 are the cause of autosomal recessive congenital nuclear cataract type 3 (CATCN3) [MIM:611544]. CATCN3 is a form of non-syndromic congenital cataract. Non-syndromic congenital cataracts vary markedly in severity and morphology, affecting the nuclear, cortical, polar, or subcapsular parts of the lens or, in severe cases, the entire lens, with a variety of types of opacity. They are one of the major causes of vision loss in children worldwide and are responsible for approximately one third of blindness in infants. Congenital cataracts can lead to permanent blindness by interfering with the sharp focus of light on the retina during critical developmental intervals"|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 6A|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2019/10/16 2019/10/16 rogid:eJNGIH/zBV3wjYXqbKB5ftU9CVY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:J6y3WEdVYdIVIZmHgKvPL2yjLpM false - mutation disrupting interaction strength:64-64 - - psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:P53673 uniprotkb:P02489 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-6875961|ensembl:ENSP00000291554|intact:EBI-25838900|uniprotkb:A0A140G945|uniprotkb:E9PHE4|uniprotkb:Q53X53 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:cryaa_human(display_long)|uniprotkb:CRYAA(gene name)|psi-mi:CRYAA(display_short)|uniprotkb:CRYA1(gene name synonym)|uniprotkb:HSPB4(gene name synonym)|uniprotkb:Heat shock protein beta-4(gene name synonym) psi-mi:"MI:0018"(two hybrid) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22091613|imex:IM-27435-15 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001300979.1|ensembl:ENSG00000160202(gene)|ensembl:ENST00000291554(transcript)|go:"GO:0005198"(structural molecule activity)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0007601"(visual perception)|go:"GO:0032387"(negative regulation of intracellular transport)|go:"GO:0032991"(protein-containing complex)|go:"GO:0042802"(identical protein binding)|go:"GO:0043066"(negative regulation of apoptotic process)|go:"GO:0046872"(metal ion binding)|go:"GO:0050821"(protein stabilization)|go:"GO:0050896"(response to stimulus)|go:"GO:0051082"(unfolded protein binding)|interpro:IPR001436(Alpha crystallin/Heat shock protein)|interpro:IPR002068(Heat shock protein Hsp20)|interpro:IPR003090(Alpha-crystallin, N-terminal)|interpro:IPR008978(HSP20-like chaperone)|interpro:IPR012274(Alpha-crystallin, subunit A)|mint:P02489|rcsb pdb:6T1R|refseq:NP_000385.1|dip:DIP-41265N - function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" - figure legend:Fig. 7A|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2019/10/16 2019/10/16 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:+d2016YcOZzaZpV57L9crFbTzEA9606 rigid:jOVFbGdtI+uWAubR1FEofvWFwhU false mutation increasing interaction strength:64-64 - - - psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:P53673 uniprotkb:P53673 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0071"(molecular sieving) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22091507|imex:IM-27435-3 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 intact:EBI-22091517(see-also) function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 4B|comment:"The elution volume of CRYBA4WT-MBP fusion protein was around 15 ml, which corresponding to a molecular weight of about 150 kDa (Fig. 4C), suggesting it is a dimer in solution. Nevertheless, the elution volume of CRYBA4G64W-MBP fusion protein was near 9 ml, which corresponding to a molecular weight of more than 670 kDa (Fig. 4C), indicating the formation of large protein aggregates."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:83333(ecoli)|taxid:83333("Escherichia coli (strain K12)") - 2019/10/16 2019/10/29 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:AAa2mwM9LkiY7LWw3HRr8hQfSrs false maltose binding protein tag:n-n|mutation with complex effect:64-64 maltose binding protein tag:n-n|mutation with complex effect:64-64 2 0 psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:P53673 uniprotkb:P53673 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0071"(molecular sieving) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22091517|imex:IM-27435-5 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 intact:EBI-22091507(see-also) function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 4B|comment:"The elution volume of CRYBA4WT-MBP fusion protein was around 15 ml, which corresponding to a molecular weight of about 150 kDa (Fig. 4C), suggesting it is a dimer in solution. Nevertheless, the elution volume of CRYBA4G64W-MBP fusion protein was near 9 ml, which corresponding to a molecular weight of more than 670 kDa (Fig. 4C), indicating the formation of large protein aggregates."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:83333(ecoli)|taxid:83333("Escherichia coli (strain K12)") - 2019/10/16 2019/10/29 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:DC9gN3CVS0pCoTkKNzYxpF1FkGc false mutation causing an interaction:64-64|maltose binding protein tag:n-n mutation causing an interaction:64-64|maltose binding protein tag:n-n - - psi-mi:"MI:0396"(predetermined participant) psi-mi:"MI:0396"(predetermined participant) uniprotkb:P53673 uniprotkb:P53673 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0030"(cross-linking study) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22091541|imex:IM-27435-7 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 intact:EBI-22091555(see-also) function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 4D|comment:"Crosslink experiment also showed that the CRYBA4WT-MBP presented mainly as dimers, while the MBP-mutant existed as aggregates (Fig. 4D)."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/10/16 2019/10/16 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:DC9gN3CVS0pCoTkKNzYxpF1FkGc false mutation causing an interaction:64-64|maltose binding protein tag:n-n mutation causing an interaction:64-64|maltose binding protein tag:n-n - - psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P53673 uniprotkb:P53673 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0030"(cross-linking study) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22091555|imex:IM-27435-9 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 intact:EBI-22091541(see-also) function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 4D|comment:"Crosslink experiment also showed that the CRYBA4WT-MBP presented mainly as dimers, while the MBP-mutant existed as aggregates (Fig. 4D)."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/10/16 2019/10/16 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:AAa2mwM9LkiY7LWw3HRr8hQfSrs false maltose binding protein tag:n-n|mutation with complex effect:64-64 maltose binding protein tag:n-n|mutation with complex effect:64-64 2 0 psi-mi:"MI:0113"(western blot) psi-mi:"MI:0113"(western blot) uniprotkb:P53673 uniprotkb:P53673 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0052"(fluorescence correlation spectroscopy) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-22091578|imex:IM-27435-11 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0497"(neutral component) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 - function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 4G, H|comment:"These results indicate that the G64W mutant has a tendency of forming larger fluorescent particles compared to its WT counterpart (Fig. 4H)."|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-293t)|taxid:9606(Homo sapiens 293 cells transformed with SV40 large T antigen) - 2019/10/16 2019/10/16 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:DC9gN3CVS0pCoTkKNzYxpF1FkGc false mutation increasing interaction strength:64-64|green fluorescent protein tag:c-c mutation increasing interaction strength:64-64|green fluorescent protein tag:c-c - - psi-mi:"MI:0867"(tag visualisation by fluorescence) psi-mi:"MI:0867"(tag visualisation by fluorescence) uniprotkb:P53674 uniprotkb:P53673 intact:EBI-7519424|intact:MINT-8162887|intact:MINT-5161833|ensembl:ENSP00000497249 intact:EBI-7519711|intact:MINT-5161963|uniprotkb:Q4VB22|uniprotkb:Q6ICE4|ensembl:ENSP00000346805 psi-mi:crbb1_human(display_long)|uniprotkb:CRYBB1(gene name)|psi-mi:CRYBB1(display_short)|uniprotkb:Beta-B1 crystallin(gene name synonym) psi-mi:crba4_human(display_long)|uniprotkb:CRYBA4(gene name)|psi-mi:CRYBA4(display_short)|uniprotkb:Beta-A4 crystallin(gene name synonym) psi-mi:"MI:0096"(pull down) Li et al. (2019) pubmed:31254514|imex:IM-27435 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0407"(direct interaction) psi-mi:"MI:0469"(IntAct) intact:EBI-22091627|imex:IM-27435-17 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:XP_011528201.1|refseq:NP_001878.1|ensembl:ENSG00000100122(gene)|ensembl:ENST00000647684(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033059|mint:P53674|rcsb pdb:1OKI refseq:NP_001877.1|ensembl:ENSG00000196431(gene)|ensembl:ENST00000354760(transcript)|go:"GO:0002088"(lens development in camera-type eye)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0007601"(visual perception)|go:"GO:0042802"(identical protein binding)|go:"GO:0043010"(camera-type eye development)|interpro:IPR001064(Beta and gamma crystallin)|interpro:IPR011024(Gamma-crystallin related)|interpro:IPR033342|mint:P53673|rcsb pdb:3LWK|refseq:XP_016884087.1 - function:"Defects in CRYBB1 are the cause of autosomal recessive congenital nuclear cataract type 3 (CATCN3) [MIM:611544]. CATCN3 is a form of non-syndromic congenital cataract. Non-syndromic congenital cataracts vary markedly in severity and morphology, affecting the nuclear, cortical, polar, or subcapsular parts of the lens or, in severe cases, the entire lens, with a variety of types of opacity. They are one of the major causes of vision loss in children worldwide and are responsible for approximately one third of blindness in infants. Congenital cataracts can lead to permanent blindness by interfering with the sharp focus of light on the retina during critical developmental intervals"|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens function:Crystallins do not turn over as the lens ages, providing ample opportunity for post-translational modifications or oxidations. These modifications may change crystallin solubility properties and favor senile cataract|comment:mint|function:Crystallins are the dominant structural components of the vertebrate eye lens|function:"Defects in CRYBA4 are the cause of lamellar cataract 2 [MIM:610425]. Cataracts are a leading cause of blindness worldwide, affecting all societies. A significant proportion of cases are genetically determined. More than 15 genes for cataracts have been identified, of which the crystallin genes are the most commonly mutated. Lamellar cataract 2 is an autosomal dominant congenital cataract"|function:"Defects in CRYBA4 are a cause of isolated microphthalmia with cataract 4 (MCOPCT4) [MIM:610426]. Microphtalmia consists of a development defect causing moderate or severe reduction in size of the eye. Opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities like cataract may also be present" figure legend:Fig. 6C|dataset:Rare diseases - Interactions investigated in the context of Rare genetic disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:-1(in vitro)|taxid:-1(In vitro) - 2019/10/16 2019/10/16 rogid:eJNGIH/zBV3wjYXqbKB5ftU9CVY9606 rogid:C4fLOy1sz+QRnbjyIjkLP6ReyfY9606 rigid:J6y3WEdVYdIVIZmHgKvPL2yjLpM false strep tag:?-? his tag:n-n|mutation disrupting interaction strength:64-64|maltose binding protein tag:n-n - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot)