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POU3F1 POU class 3 homeobox 1 [ Homo sapiens (human) ]

Gene ID: 5453, updated on 5-Aug-2022

Summary

Official Symbol
POU3F1provided by HGNC
Official Full Name
POU class 3 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9214
See related
Ensembl:ENSG00000185668 MIM:602479; AllianceGenome:HGNC:9214
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OCT6; OTF6; SCIP
Summary
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; positive regulation of gene expression; and positive regulation of transcription, DNA-templated. Predicted to act upstream of or within keratinocyte differentiation; nervous system development; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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Genomic context

See POU3F1 in Genome Data Viewer
Location:
1p34.3
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (38043829..38046793, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37911007..37913971, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38509501..38512465, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene UTP11 small subunit processome component Neighboring gene Sharpr-MPRA regulatory region 3132 Neighboring gene MIR3659 host gene Neighboring gene VISTA enhancer hs238 Neighboring gene microRNA 3659

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in axon ensheathment TAS
Traceable Author Statement
more info
PubMed 
involved_in forebrain development IEA
Inferred from Electronic Annotation
more info
 
involved_in keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in myelination in peripheral nervous system IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
POU domain, class 3, transcription factor 1
Names
OTF-6
POU domain transcription factor SCIP
octamer-binding protein 6
octamer-binding transcription factor 6

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_002699.4NP_002690.3  POU domain, class 3, transcription factor 1

    See identical proteins and their annotated locations for NP_002690.3

    Status: VALIDATED

    Source sequence(s)
    AL139158
    Consensus CDS
    CCDS30679.1
    UniProtKB/Swiss-Prot
    Q03052, Q5TAG2
    Related
    ENSP00000362103.2, ENST00000373012.5
    Conserved Domains (2) summary
    smart00352
    Location:247321
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:342396
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    38043829..38046793 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    37911007..37913971 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)