POU4F3
entrez
5459
canonical
uniprot
Q15319
canonical
ensembl
ENSG00000091010
resolver
ensp
ENSP00000495718
resolver
ensp
ENSP00000584288
resolver
enst
ENST00000646991
resolver
enst
ENST00000914229
resolver
genesymbol
POU4F3
resolver
genesymbol_syn
BRN3C
resolver
hgnc
HGNC:9220
resolver
uniprot
O60557
resolver
uniprot
Q2M3F8
resolver
uniprot_entry
PO4F3_HUMAN
resolver
uniprot_sec
O60557
resolver
uniprot_sec
Q2M3F8
resolver
amino_acid_sequence
MMAMNSKQPFGMHPVLQEPKFSSLHSGSEAMRRVCLPAPQLQGNIFGSFDESLLARAEALAAVDIVSHGKNHPFKPDATYHTMSSVPCTSTSSTVPISHPAALTSHPHHAVHQGLEGDLLEHISPTLSVSGLGAPEHSVMPAQIHPHHLGAMGHLHQAMGMSHPHTVAPHSAMPACLSDVESDPRELEAFAERFKQRRIKLGVTQADVGAALANLKIPGVGSLSQSTICRFESLTLSHNNMIALKPVLQAWLEEAEAAYREKNSKPELFNGSERKRKRTSIAAPEKRSLEAYFAIQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKYSAVH
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]: A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. {ECO:0000269|PubMed:18228599, ECO:0000269|PubMed:18347256, ECO:0000269|PubMed:22938506, ECO:0000269|PubMed:24260153, ECO:0000269|PubMed:25388789, ECO:0000269|PubMed:28545070, ECO:0000269|PubMed:28790396, ECO:0000269|PubMed:9506947}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator (PubMed:18228599). Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599). Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity). {ECO:0000250|UniProtKB:Q63955, ECO:0000269|PubMed:18228599}.
uniprot
proteins
mass_dalton
37052
uniprot
proteins
protein_family
Class-4 subfamily
uniprot
proteins
protein_family
POU transcription factor family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18228599
uniprot
proteins
pubmed
18347256
uniprot
proteins
pubmed
22938506
uniprot
proteins
pubmed
24260153
uniprot
proteins
pubmed
25388789
uniprot
proteins
pubmed
28545070
uniprot
proteins
pubmed
28790396
uniprot
proteins
pubmed
7623109
uniprot
proteins
pubmed
9506947
uniprot
proteins
sequence_length
338
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18228599, ECO:0000269|PubMed:28790396}. Cytoplasm {ECO:0000269|PubMed:28790396}. Note=Preferentially localized in the nucleus. {ECO:0000269|PubMed:28790396}.
uniprot
proteins