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POU3F3 POU class 3 homeobox 3 [ Homo sapiens (human) ]

Gene ID: 5455, updated on 10-Oct-2020

Summary

Official Symbol
POU3F3provided by HGNC
Official Full Name
POU class 3 homeobox 3provided by HGNC
Primary source
HGNC:HGNC:9216
See related
Ensembl:ENSG00000198914 MIM:602480
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
BRN1; OTF8; oct-8; SNIBFIS; brain-1
Summary
This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
Orthologs

Genomic context

See POU3F3 in Genome Data Viewer
Location:
2q12.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (104854115..104858574)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (105471969..105473471)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene high mobility group box 3 pseudogene 11 Neighboring gene POU3F3 adjacent non-coding transcript 1 Neighboring gene VISTA enhancer hs1553 Neighboring gene long intergenic non-protein coding RNA 1159 Neighboring gene VISTA enhancer hs990

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
GeneReviews: Not available
SNIJDERS BLOK-FISHER SYNDROME
MedGen: C5231424 OMIM: 618604 GeneReviews: Not available
not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
HMG box domain binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
cerebral cortex radially oriented cell migration IEA
Inferred from Electronic Annotation
more info
 
chemical homeostasis IEA
Inferred from Electronic Annotation
more info
 
excretion IEA
Inferred from Electronic Annotation
more info
 
forebrain ventricular zone progenitor cell division IEA
Inferred from Electronic Annotation
more info
 
metanephric DCT cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric ascending thin limb development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric loop of Henle development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric macula densa development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric thick ascending limb development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
POU domain, class 3, transcription factor 3
Names
brain-specific homeobox/POU domain protein 1
octamer-binding protein 8
octamer-binding transcription factor 8

NCBI Reference Sequences (RefSeq)

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_006236.3NP_006227.1  POU domain, class 3, transcription factor 3

    See identical proteins and their annotated locations for NP_006227.1

    Status: REVIEWED

    Source sequence(s)
    AC018730, CX873380, CX873394
    Consensus CDS
    CCDS33265.1
    UniProtKB/Swiss-Prot
    P20264
    Related
    ENSP00000355001.2, ENST00000361360.4
    Conserved Domains (2) summary
    smart00352
    Location:314388
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:409463
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    104854115..104858574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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