POU4F3

Protein identityUniProt · HPA

UniProt accession

Q15319

Gene

POU4F3

Ensembl

ENSG00000091010

Chromosome

5

Canonical length

338 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

338 residues, UniProt reviewed canonical sequence.

>Q15319|POU4F3
     1  MMAMNSKQPF GMHPVLQEPK FSSLHSGSEA MRRVCLPAPQ LQGNIFGSFD ESLLARAEAL
    61  AAVDIVSHGK NHPFKPDATY HTMSSVPCTS TSSTVPISHP AALTSHPHHA VHQGLEGDLL
   121  EHISPTLSVS GLGAPEHSVM PAQIHPHHLG AMGHLHQAMG MSHPHTVAPH SAMPACLSDV
   181  ESDPRELEAF AERFKQRRIK LGVTQADVGA ALANLKIPGV GSLSQSTICR FESLTLSHNN
   241  MIALKPVLQA WLEEAEAAYR EKNSKPELFN GSERKRKRTS IAAPEKRSLE AYFAIQPRPS
   301  SEKIAAIAEK LDLKKNVVRV WFCNQRQKQK RMKYSAVH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POU4F3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

0.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POU4F3.

Disease | AllUniProt

Conditions POU4F3 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 15 (DFNA15) MIM:602459

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 256 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant nonsyndromic hearing loss 15
• Autosomal recessive sensorineural hearing loss
• Hearing loss, autosomal recessive
• Rare genetic deafness
• Hearing impairment

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.37

gnomAD pLI

0.92

gnomAD missense Z

-0.66

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axon extension
• inner ear auditory receptor cell differentiation
• inner ear morphogenesis
• neuromuscular process controlling balance
• neuron apoptotic process
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• retinal ganglion cell axon guidance
• sensory perception of sound
• vestibulocochlear nerve development
• visual perception

Molecular functions

• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• cytoplasm
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• POU-specific domain
• Homeodomain
• Homedomain-like superfamily
• Lambda repressor-like, DNA-binding domain superfamily
• POU domain
• Homeobox, conserved site
• POU domain transcription factor
• Homeodomain
• Pou domain - N-terminal to homeobox domain

KeywordsUniProt

• Activator
• Cytoplasm
• Deafness
• Differentiation
• DNA-binding
• Homeobox
• Non-syndromic deafness
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of POU4F3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ISL1
• HIPK2