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POU4F1 POU class 4 homeobox 1 [ Homo sapiens (human) ]

Gene ID: 5457, updated on 8-May-2016
Official Symbol
POU4F1provided by HGNC
Official Full Name
POU class 4 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9218
See related
Ensembl:ENSG00000152192 HPRD:03379; MIM:601632; Vega:OTTHUMG00000017119
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRN3A; RDC-1; Oct-T1; brn-3A
Summary
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]
Orthologs
Location:
13q31.1
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (78599092..78603560, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (79173227..79177695, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene RNF219 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 54 Neighboring gene transcription elongation factor B subunit 1 pseudogene 23 Neighboring gene ring finger protein 219 Neighboring gene uncharacterized LOC105370272 Neighboring gene ribosomal protein L21 pseudogene 111

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
NHGRI GWA Catalog
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
  • Regulation of TP53 Activity through Association with Co-factors, organism-specific biosystem (from REACTOME)
    Regulation of TP53 Activity through Association with Co-factors, organism-specific biosystemAssociation of TP53 (p53) with various transcriptional co-factors can promote, inhibit or provide specificity towards either transcription of cell cycle arrest genes or transcription of cell death ge...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ13449

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axonogenesis TAS
Traceable Author Statement
more info
PubMed 
cell migration in hindbrain IEA
Inferred from Electronic Annotation
more info
 
central nervous system neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
habenula development IEA
Inferred from Electronic Annotation
more info
 
innervation TAS
Traceable Author Statement
more info
PubMed 
mesoderm development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription elongation from RNA polymerase I promoter IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
peripheral nervous system neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
proprioception involved in equilibrioception IEA
Inferred from Electronic Annotation
more info
 
regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
sensory system development ISS
Inferred from Sequence or Structural Similarity
more info
 
suckling behavior IEA
Inferred from Electronic Annotation
more info
 
synapse assembly TAS
Traceable Author Statement
more info
PubMed 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
trigeminal nerve development ISS
Inferred from Sequence or Structural Similarity
more info
 
ventricular compact myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
neuron projection IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
POU domain, class 4, transcription factor 1
Names
brain-3A
brain-specific homeobox/POU domain protein 3A
homeobox/POU domain protein RDC-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_006237.3NP_006228.3  POU domain, class 4, transcription factor 1

    See identical proteins and their annotated locations for NP_006228.3

    Status: REVIEWED

    Source sequence(s)
    AL445209, BM714015, BM726529, L20433, N74107
    Consensus CDS
    CCDS31996.1
    UniProtKB/Swiss-Prot
    Q01851
    Related
    ENSP00000366413, OTTHUMP00000018535, ENST00000377208, OTTHUMT00000045360
    Conserved Domains (2) summary
    smart00352
    Location:260337
    POU; Found in Pit-Oct-Unc transcription factors
    cd00086
    Location:356414
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    78599092..78603560 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_941608.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    79141107..79145483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)