ATOH7
entrez
220202
canonical
uniprot
Q8N100
canonical
ensembl
ENSG00000179774
resolver
ensp
ENSP00000362777
resolver
enst
ENST00000373673
resolver
genesymbol
ATOH7
resolver
genesymbol_syn
ATH5
resolver
genesymbol_syn
BHLHA13
resolver
hgnc
HGNC:13907
resolver
uniprot
F1T0H4
resolver
uniprot_entry
ATOH7_HUMAN
resolver
uniprot_entry
F1T0H4_HUMAN
resolver
amino_acid_sequence
MKSCKPSGPPAGARVAPPCAGGTECAGTCAGAGRLESAARRRLAANARERRRMQGLNTAFDRLRRVVPQWGQDKKLSKYETLQMALSYIMALTRILAEAERFGSERDWVGLHCEHFGRDHYLPFPGAKLPGESELYSQRLFGFQPEPFQMAT
uniprot
proteins
disease_involvement
DISEASE: Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR) [MIM:221900]: A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment. {ECO:0000269|PubMed:21441919, ECO:0000269|PubMed:22068589, ECO:0000269|PubMed:22645276, ECO:0000269|PubMed:26933893, ECO:0000269|PubMed:28192794}. Note=The disease is caused by variants affecting the gene represented in this entry. A 6.5 kb deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 has been found in PHPVAR patients (PubMed:21441919). {ECO:0000269|PubMed:21441919}.
uniprot
proteins
function
FUNCTION: Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227). Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227). Binds to gene promoters and enhancer elements, and thereby regulates a transcriptional program of retinal ganglion cell (RGC) determinant genes (By similarity). Although the exact mechanism is not certain, retinal transcription regulation by ATOH7 has a role in RGC determination and survival, photoreceptor population development, targeting of RGC axons to the optic nerve and development of the retino-hypothalamic tract (By similarity). Binds to its own promoter and enhancer sequences, suggesting autoregulation of ATOH7 transcription (By similarity). Required for retinal circadian rhythm photoentrainment (By similarity). Plays a role in brainstem auditory signaling and binaural processing (By similarity). {ECO:0000250|UniProtKB:Q9Z2E5, ECO:0000269|PubMed:31696227}.
uniprot
proteins
mass_dalton
16871
uniprot
proteins
mutagenesis
MUTAGEN 56; /note="L->P: Loss of DNA-binding activity; loss of ability to restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant."; /evidence="ECO:0000269|PubMed:22645276"; MUTAGEN 59; /note="A->G: Abolishes heterodimerization with TCF3 isoform E47; no effect on nuclear localization."; /evidence="ECO:0000269|PubMed:31696227
uniprot
proteins
pubmed
11889557
uniprot
proteins
pubmed
14516699
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
20395239
uniprot
proteins
pubmed
21441919
uniprot
proteins
pubmed
22068589
uniprot
proteins
pubmed
22645276
uniprot
proteins
pubmed
26933893
uniprot
proteins
pubmed
28192794
uniprot
proteins
pubmed
31696227
uniprot
proteins
sequence_length
152
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31696227}. Perikaryon {ECO:0000250|UniProtKB:Q9Z2E5}. Cell projection, axon {ECO:0000250|UniProtKB:Q9Z2E5}.
uniprot
proteins