ATOH1
entrez
474
canonical
uniprot
Q92858
canonical
ensembl
ENSG00000172238
resolver
ensp
ENSP00000302216
resolver
enst
ENST00000306011
resolver
genesymbol
ATOH1
resolver
genesymbol_syn
ATH1
resolver
genesymbol_syn
BHLHA14
resolver
hgnc
HGNC:797
resolver
uniprot
Q14CT9
resolver
uniprot_entry
ATOH1_HUMAN
resolver
uniprot_sec
Q14CT9
resolver
amino_acid_sequence
MSRLLHAEEWAEVKELGDHHRQPQPHHLPQPPPPPQPPATLQAREHPVYPPELSLLDSTDPRAWLAPTLQGICTARAAQYLLHSPELGASEAAAPRDEVDGRGELVRRSSGGASSSKSPGPVKVREQLCKLKGGVVVDELGCSRQRAPSSKQVNGVQKQRRLAANARERRRMHGLNHAFDQLRNVIPSFNNDKKLSKYETLQMAQIYINALSELLQTPSGGEQPPPPPASCKSDHHHLRTAASYEGGAGNATAAGAQQASGGSQRPTPPGSCRTRFSAPASAGGYSVQLDALHFSTFEDSALTAMMAQKNLSPSLPGSILQPVQEENSKTSPRSHRSDGEFSPHSHYSDSDEAS
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 89 (DFNA89) [MIM:620284]: An autosomal dominant form of non-syndromic deafness characterized by progressive hearing loss, with onset at birth or early childhood. {ECO:0000269|PubMed:33111345}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional regulator. Activates E box-dependent transcription in collaboration with TCF3/E47, but the activity is completely antagonized by the negative regulator of neurogenesis HES1. Plays a role in the differentiation of subsets of neural cells by activating E box-dependent transcription (By similarity). {ECO:0000250|UniProtKB:P48985}.
uniprot
proteins
mass_dalton
38160
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
33111345
uniprot
proteins
pubmed
8872459
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins