UniProt UniProt http://www.uniprot.org Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human molecular genetics 2020 imex curation Atac D., Koller S., Hanson JVM., Feil S., Tiwari A., Bahr A., Baehr L., Magyar I., Kottke R., Gerth-Kahlert C., Berger W. Rare diseases - Interactions investigated in the context of Rare genetic disease berger@medmolgen.uzh.ch Only protein-protein interactions imex curation in vitro In vitro elisa enzyme linked immunosorbent assay ELISA ELISA elisa antibody detection identification by antibody antibody detection Atac D., Koller S., Hanson JVM., Feil S., Tiwari A., Bahr A., Baehr L., Magyar I., Kottke R., Gerth-Kahlert C., Berger W. Rare diseases - Interactions investigated in the context of Rare genetic disease berger@medmolgen.uzh.ch Accepted 2021-DEC-01 AT 14:01 GMT AT 14:01 GMT by LUANA Human molecular genetics 2020 Only protein-protein interactions imex curation imex curation p15923-2 Transcription factor E2-alpha PAN-1 TCF3 BHLHB21 E2A ITF1 Class B basic helix-loop-helix protein 21 Immunoglobulin enhancer-binding factor E12/E47 Immunoglobulin transcription factor 1 Kappa-E2-binding factor Transcription factor 3 Transcription factor ITF-1 protein protein human Homo sapiens Human MNQPQRMAPVGTDKELSDLLDFSMMFPLPVTNGKGRPASLAGAQFGGSGLEDRPSSGSWGSGDQSSSSFDPSRTFSEGTHFTESHSSLSSSTFLGPGLGGKSGERGAYASFGRDAGVGGLTQAGFLSGELALNSPGPLSPSGMKGTSQYYPSYSGSSRRRAADGSLDTQPKKVRKVPPGLPSSVYPPSSGEDYGRDATAYPSAKTPSSTYPAPFYVADGSLHPSAELWSPPGQAGFGPMLGGGSSPLPLPPGSGPVGSSGSSSTFGGLHQHERMGYQLHGAEVNGGLPSASSFSSAPGATYGGVSSHTPPVSGADSLLGSRGTTAGSSGDALGKALASIYSPDHSSNNFSSSPSTPVGSPQGLAGTSQWPRAGAPGALSPSYDGGLHGLQSKIEDHLDEAIHVLRSHAVGTAGDMHTLLPGHGALASGFTGPMSLGGRHAGLVGGSHPEDGLAGSTSLMHNHAALPSQPGTLPDLSRPPDSYSGLGRAGATAAASEIKREEKEDEENTSAADHSEEEKKELKAPRARTSSTDEVLSLEEKDLRDRERRMANNARERVRVRDINEAFRELGRMCQMHLKSDKAQTKLLILQQAVQVILGLEQQVRERNLNPKAACLKRREEEKVSGVVGDPQMVLSAPHPGLSEAHNPAGHM The bHLH domain encompassing amino acids 546 to 599 is sufficient to mediate DNA-binding and homodimerization. Combined mutagenesis of Phe-566 and Leu-569 to Asp-566 and Glu-569, mutagenesis of Lys-585 to Ala-585 or combined mutagenesis of Ile-588 and Leu-589 to Asp-588 and Glu-589 prevents DNA-binding and homodimerization. Mutagenesis of Arg-548 to Lys-548, combined mutagenesis of Arg-547 and Arg-548 to Gly-547 and Gly-548, mutagenesis of Arg-556 to Lys-556, mutagenesis of Arg-558 to Lys-558, or combined mutagenesis of Arg-556 and Arg-558 to Gly-556 and Gly-558, alter DNA-binding but not dimerization. Variant in position: 555:E->K (in AGM8, localizes normally to the nucleus, does not perform proper DNA binding, acts in a dominant-negative manner when coexpressed with wild-type) (Ref.29). Contains a phosphothreonine at position 531. F5F11C462351FFD6 atoh7_human Protein atonal homolog 7 ATOH7 ATH5 BHLHA13 Class A basic helix-loop-helix protein 13 Helix-loop-helix protein hATH-5 protein protein human Homo sapiens Human MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLAANARERRRMQGLNTAFDRLRRVVPQWGQDKKLSKYETLQMALSYIMALTRILAEAERFGSERDWVGLHCEHFGRDHYLPFPGAKLPGESELYSQRLFGFQPEPFQMAT 9E93E9E60E1697C5 tcf3-atoh7-1 1 3 unspecified role unspecified role prey prey over-expressed over expressed level over-expressed cell lysate cell lysate Q8N100:p.Asn46His mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain N H Q8N100:p.Ala59Thr mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain A T Q8N100:p.Ala59Val mutation disrupting strength mutation disrupting interaction strength mutation disrupting strength certain certain sequence position certain certain certain sequence position certain A V Q8N100:p.Ala59Gly mutation decreasing strength mutation decreasing interaction strength mutation decreasing strength certain certain sequence position certain certain certain sequence position certain A G region v5 tag v5 tag GKPIPNPLLGLDST epitope tag GKPIPNPLLGLDST epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined human-293t Homo sapiens 293 cells transformed with SV40 large T antigen 293t 293 cells expressing SV40 large T antigen. The original designation of this cell line was 293tsA1609neo. It is not in Cabri,ATCC or HyperCLDB. 2 unspecified role unspecified role bait bait over-expressed over expressed level over-expressed cell lysate cell lysate region myc tag myc tag EUKLISEED epitope tag EUKLISEED epitope tag undetermined undetermined sequence position undetermined undetermined undetermined sequence position undetermined human-293t Homo sapiens 293 cells transformed with SV40 large T antigen 293t 293 cells expressing SV40 large T antigen. The original designation of this cell line was 293tsA1609neo. It is not in Cabri,ATCC or HyperCLDB. physical association physical association Fig. 5C