POU4F1

Protein identityUniProt · HPA

UniProt accession

Q01851

Gene

POU4F1

Ensembl

ENSG00000152192

Chromosome

13

Canonical length

419 aa

Protein class

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

OverviewNCBI Gene

This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

419 residues, UniProt reviewed canonical sequence.

>Q01851|POU4F1
     1  MMSMNSKQPH FAMHPTLPEH KYPSLHSSSE AIRRACLPTP PLQSNLFASL DETLLARAEA
    61  LAAVDIAVSQ GKSHPFKPDA TYHTMNSVPC TSTSTVPLAH HHHHHHHHQA LEPGDLLDHI
   121  SSPSLALMAG AGGAGAAAGG GGAHDGPGGG GGPGGGGGPG GGPGGGGGGG PGGGGGGPGG
   181  GLLGGSAHPH PHMHSLGHLS HPAAAAAMNM PSGLPHPGLV AAAAHHGAAA AAAAAAAGQV
   241  AAASAAAAVV GAAGLASICD SDTDPRELEA FAERFKQRRI KLGVTQADVG SALANLKIPG
   301  VGSLSQSTIC RFESLTLSHN NMIALKPILQ AWLEEAEGAQ REKMNKPELF NGGEKKRKRT
   361  SIAAPEKRSL EAYFAVQPRP SSEKIAAIAE KLDLKKNVVR VWFCNQRQKQ KRMKFSATY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against POU4F1 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)

0.58

Highest tissue expression

2.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about POU4F1.

Disease | AllUniProt

Conditions POU4F1 is implicated in, by any mechanism.

• Ataxia, intention tremor, and hypotonia syndrome, childhood-onset (ATITHS) MIM:619352

Disease | GeneticClinVar

9 pathogenic / likely-pathogenic of 118 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ataxia, intention tremor, and hypotonia syndrome, childhood-onset

Disease | ImmuneIEDB

Conditions an epitope on POU4F1 was assayed in.

• multiple sclerosis B cell

ReferencesPubMed · IEDB

Publications for POU4F1 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)

0.42

gnomAD pLI

0.89

gnomAD missense Z

2.45

DepMap mean gene effect

0.02

DepMap dependency class

selective

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

• axonogenesis
• cell migration in hindbrain
• cellular response to cytokine stimulus
• cellular response to estradiol stimulus
• central nervous system neuron differentiation
• habenula development
• heart development
• innervation
• intrinsic apoptotic signaling pathway by p53 class mediator
• mesoderm development
• negative regulation of apoptotic process
• negative regulation of gene expression
• negative regulation of neuron apoptotic process
• negative regulation of programmed cell death
• negative regulation of transcription by RNA polymerase II
• neuron apoptotic process
• neuron fate specification
• neuron migration
• neuron projection development
• peripheral nervous system neuron development
• positive regulation of gene expression
• positive regulation of neuron apoptotic process
• positive regulation of osteoclast differentiation
• positive regulation of transcription by RNA polymerase II
• positive regulation of transcription regulatory region DNA binding
• regulation of cell cycle
• regulation of DNA-binding transcription factor activity
• regulation of neurogenesis
• regulation of transcription by RNA polymerase II
• sensory system development
• suckling behavior
• synapse assembly
• trigeminal nerve development
• ventricular compact myocardium morphogenesis
• proprioception involved in equilibrioception

Molecular functions

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

Cellular components

• chromatin
• cytoplasm
• neuron projection
• nucleoplasm
• nucleus
• RNA polymerase II transcription regulator complex

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

• Cytoplasm
• Developmental protein
• DNA-binding
• Homeobox
• Intellectual disability
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of POU4F1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• POU4F2
• RIT2
• HIPK2