1. Gene
  2. POU2F1 - POU class 2 homeobox 1 Gene

POU2F1 - POU class 2 homeobox 1 Gene

Homo sapiens

Also known as OCT1; OTF1; Oct1Z; oct-1B

Gene ID: 5451 | Gene type: protein coding

About POU2F1

Cytogenetic location: 1q24.2 Genomic coordinates (GRCh38): 1:167,220,885-167,427,345 (from NCBI)

This gene has 17 transcripts (splice variants), 239 orthologues and 17 paralogues. Ubiquitous expression in testis (RPKM 2.5), brain (RPKM 2.3) and 25 other tissues.

Summary

The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]

POU2F1 Products(5)

mRNA Protein Name
NM_001198783.2 NP_001185712.1 POU domain, class 2, transcription factor 1 isoform 2
NM_001198786.2 NP_001185715.1 POU domain, class 2, transcription factor 1 isoform 3
NM_001365848.1 NP_001352777.1 POU domain, class 2, transcription factor 1 isoform 4
NM_001365849.1 NP_001352778.1 POU domain, class 2, transcription factor 1 isoform 4
NM_002697.4 NP_002688.3 POU domain, class 2, transcription factor 1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA binding IDA
IDA: Inferred from direct assay
9199328 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
IMP: Inferred from mutant phenotype
11380252 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
25802280 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
10329190 GOA
enables RNA polymerase II core promoter sequence-specific DNA binding IMP
IMP: Inferred from mutant phenotype
10541551 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10629049 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
7945330 GOA
Cellular Component GO Annotation Evidence Reference Source
part of RNA polymerase II transcription regulator complex IMP
IMP: Inferred from mutant phenotype
10329190 GOA
located in nucleus IDA
IDA: Inferred from direct assay
9242494 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POU2F1 Protein Structure

Pou

Pou: Pou domain - N-terminal to homeobox domain (281 - 354)

Homeobox

Homeobox: Homeobox domain (380 - 436)

  • 0
  • 200
  • 400
  • 600
  • 743 a.a.
Protein Preferred Names Protein Names

POU domain, class 2, transcription factor 1

NF-A1

Related Diseases

Diseases Alias
Herpes Simplex

Herpes Simplex Infections

Herpesvirus Hominis Disease

Herpes Simplex Disease

Herpesviral Infection Due To Herpes Simplex

Infections Due To Simplex Virus

Herpes Nos

Hypotrichosis 3

HYPT3

Hypotrichosis Simplex Of The Scalp 2

Htss2

Hypotrichosis, Type 3

Primary Amebic Meningoencephalitis

Pam

Naegleria Fowleri Infection

Meningoencephalitis Caused By Naegleria Fowleri

Primary Amoebic Meningoencephalitis

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus POU2F1 RGD RGD:621689
Mus musculus POU2F1 MGD MGI:101898
Macaca mulatta POU2F1 VGNC VGNC:76223
Canis familiaris POU2F1 VGNC VGNC:44826
Felis catus POU2F1 VGNC VGNC:68964
Bos taurus POU2F1 VGNC VGNC:33174