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

Gene ID: 5457, updated on 8-Jul-2021

Summary

Official Symbol
POU4F1provided by HGNC
Official Full Name
POU class 4 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9218
See related
Ensembl:ENSG00000152192 MIM:601632
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; ATITHS; 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]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See POU4F1 in Genome Data Viewer
Location:
13q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (78598362..78603552, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (79172497..79177687, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene OBI1 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 54 Neighboring gene elongin C pseudogene 23 Neighboring gene uncharacterized LOC780529 Neighboring gene ORC ubiquitin ligase 1 Neighboring gene uncharacterized LOC105370272 Neighboring gene ribosomal protein L21 pseudogene 111

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
MedGen: CN297072 OMIM: 619352 GeneReviews: Not available
not available
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13449

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
enables GTPase binding IEA
Inferred from Electronic Annotation
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables single-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in axonogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell migration in hindbrain IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to cytokine stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to estradiol stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in central nervous system neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in habenula development IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in innervation TAS
Traceable Author Statement
more info
PubMed 
involved_in intrinsic apoptotic signaling pathway by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mesoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of neuron apoptotic process TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of programmed cell death ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transcription elongation by RNA polymerase I IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peripheral nervous system neuron development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of osteoclast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription regulatory region DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in proprioception involved in equilibrioception IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in suckling behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse assembly TAS
Traceable Author Statement
more info
PubMed 
involved_in trigeminal nerve development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular compact myocardium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
POU domain, class 4, transcription factor 1
Names
brain-specific homeobox/POU domain protein 3A
homeobox/POU domain protein RDC-1

NCBI Reference Sequences (RefSeq)

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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_006237.4NP_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
    ENSP00000366413.4, ENST00000377208.7
    Conserved Domains (2) summary
    smart00352
    Location:260337
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:358411
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    78598362..78603552 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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