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

Gene ID: 5453, updated on 17-Jun-2024

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
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (38043829..38046793, complement)
RS_2023_10 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 Sharpr-MPRA regulatory region 8264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38463160-38464081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38465171-38465958 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38465959-38466746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38469196-38470004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 782 Neighboring gene four and a half LIM domains 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:38491775-38492274 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38492441-38492993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38492994-38493545 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 784 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 785 Neighboring gene Sharpr-MPRA regulatory region 3132 Neighboring gene UTP11 small subunit processome component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38512768-38513268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38513269-38513769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 687 Neighboring gene MIR3659 host gene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38537009-38537508 Neighboring gene VISTA enhancer hs238 Neighboring gene microRNA 3659 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38579645-38580510 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38581621-38582121 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38582797-38583340 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38583341-38583883 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:38590116-38590297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38594298-38594798 Neighboring gene long intergenic non-protein coding RNA 2786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:38605789-38606702 Neighboring gene uncharacterized LOC105378654

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

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
 
Component Evidence Code Pubs
part_of 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: GCF_000001405.40-RS_2023_10

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)