Homo sapiens Protein: POU4F3
Summary
InnateDB Protein IDBP-52036.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POU4F3
Protein Name POU class 4 homeobox 3
Synonyms BRN3C; DFNA15;
Species Homo sapiens
Ensembl Protein ENSP00000230732
InnateDB Gene IDBG-52034 (POU4F3)
Protein Structure
UniProt Annotation
Function May play a role in determining or maintaining the identities of a small subset of visual system neurons.
Subcellular Localization Nucleus.
Disease Associations 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:0000269PubMed:18228599, ECO:0000269PubMed:9506947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Brain. Seems to be specific to the retina. {ECO:0000269PubMed:7623109, ECO:0000269PubMed:9506947}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 0
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0021562 vestibulocochlear nerve development
GO:0031290 retinal ganglion cell axon guidance
GO:0042472 inner ear morphogenesis
GO:0042491 auditory receptor cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048675 axon extension
GO:0048839 inner ear development
GO:0050885 neuromuscular process controlling balance
GO:0051402 neuron apoptotic process
GO:0060113 inner ear receptor cell differentiation
Cellular Component
GO:0005634 nucleus
Protein Structure and Domains
PDB ID
InterPro IPR000327 POU-specific
IPR001356 Homeobox domain
IPR009057 Homeodomain-like
IPR010982 Lambda repressor-like, DNA-binding domain
IPR013847 POU domain
PFAM PF00157
PF00046
PF13413
PRINTS PR00028
PIRSF
SMART SM00352
SM00389
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q15319
PhosphoSite PhosphoSite-Q15319
TrEMBL
UniProt Splice Variant
Entrez Gene 5459
UniGene Hs.553499
RefSeq NP_002691
HUGO HGNC:9220
OMIM 602460
CCDS CCDS4281
HPRD 03911
IMGT
EMBL AF044575 BC104923 BC112207 U10060 U10061
GenPept AAA57160 AAC06203 AAI04924 AAI12208