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POU2F1 POU class 2 homeobox 1 [ Homo sapiens (human) ]

Gene ID: 5451, updated on 11-Nov-2018

Summary

Official Symbol
POU2F1provided by HGNC
Official Full Name
POU class 2 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9212
See related
Ensembl:ENSG00000143190 MIM:164175; Vega:OTTHUMG00000034436
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
OCT1; OTF1; oct-1B
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]
Expression
Ubiquitous expression in testis (RPKM 2.5), brain (RPKM 2.3) and 25 other tissues See more
Orthologs

Genomic context

See POU2F1 in Genome Data Viewer
Location:
1q24.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (167220829..167427345)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167190066..167396582)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371601 Neighboring gene long intergenic non-protein coding RNA 1363 Neighboring gene VISTA enhancer hs1331 Neighboring gene uncharacterized LOC101928512 Neighboring gene CD247 molecule Neighboring gene uncharacterized LOC107985224 Neighboring gene aldo-keto reductase family 1 member D1 pseudogene 1

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pol gag-pol Transcription factors Oct-1, Oct-2, PU.1, Sp1, and Sp3 are recruited to the HS7 regulatory site in the pol coding region, suggesting that Oct-1, Oct-2, PU.1, Sp1, and Sp3 indirectly interact with HIV-1 Pol PubMed
Tat tat Combination of LBP-1 and Oct1 cellular transcription activators represses transcription initiation at the HIV-1 LTR promoter by HIV-1 Tat PubMed
tat Oct binds to HIV-1 Tat affinity matrices and also confers Tat responsiveness on a basal HIV-1 promoter PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42836

Gene Ontology Provided by GOA

Component Evidence Code Pubs
RNA polymerase II transcription factor complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
POU domain, class 2, transcription factor 1
Names
NF-A1
OTF-1
Octamer-binding transcription factor-1
POU class 2 homeobox 1 isoform Oct-1R
oct-1
octamer-binding protein 1
octamer-binding transcription factor 1

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_001198783.1NP_001185712.1  POU domain, class 2, transcription factor 1 isoform 2

    See identical proteins and their annotated locations for NP_001185712.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, as compared to isoform 1.
    Source sequence(s)
    AL136984, AL359962, BC001664, DA937884
    Consensus CDS
    CCDS55656.1
    UniProtKB/Swiss-Prot
    P14859
    Related
    ENSP00000356836.5, OTTHUMP00000032349, ENST00000367862.9, OTTHUMT00000083248
    Conserved Domains (2) summary
    smart00352
    Location:292366
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:394447
    Homeobox; Homeobox domain
  2. NM_001198786.1NP_001185715.1  POU domain, class 2, transcription factor 1 isoform 3

    See identical proteins and their annotated locations for NP_001185715.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame coding exon, as compared to variant 3. The resulting isoform (3) lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AK303201, AL136984, AL359962, BX954888
    Consensus CDS
    CCDS55655.1
    UniProtKB/Swiss-Prot
    P14859
    Related
    ENSP00000401217.2, OTTHUMP00000247264, ENST00000429375.6, OTTHUMT00000416073
    Conserved Domains (2) summary
    smart00352
    Location:240314
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:342395
    Homeobox; Homeobox domain
  3. NM_001365848.1NP_001352777.1  POU domain, class 2, transcription factor 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variant 6, encodes isoform 4.
    Source sequence(s)
    AK091438, AL136984, AL359962, AL451050
    Conserved Domains (2) summary
    smart00352
    Location:278352
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:380433
    Homeobox; Homeobox domain
  4. NM_001365849.1NP_001352778.1  POU domain, class 2, transcription factor 1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variant 5, encodes isoform 4.
    Source sequence(s)
    AL136984, AL359962, AL451050
    Conserved Domains (2) summary
    smart00352
    Location:278352
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:380433
    Homeobox; Homeobox domain
  5. NM_002697.3NP_002688.3  POU domain, class 2, transcription factor 1 isoform 1

    See identical proteins and their annotated locations for NP_002688.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL136984, AL359962, BC001664, BX954888, X13403
    Consensus CDS
    CCDS1259.2
    UniProtKB/Swiss-Prot
    P14859
    Related
    ENSP00000356840.2, OTTHUMP00000032348, ENST00000367866.6, OTTHUMT00000083247
    Conserved Domains (2) summary
    smart00352
    Location:303377
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:405458
    Homeobox; Homeobox domain

RNA

  1. NR_037163.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an additional exon in the 5' region, which results in an internal stop codon, as compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate and will not make a functional protein.
    Source sequence(s)
    AL136984, AL359962, BC052274, DC370634
    Related
    ENST00000271411.8, OTTHUMT00000083246

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    167220829..167427345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447727.1XP_024303495.1  POU domain, class 2, transcription factor 1 isoform X2

    Conserved Domains (2) summary
    smart00352
    Location:280354
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:382435
    Homeobox; Homeobox domain
  2. XM_011509653.2XP_011507955.1  POU domain, class 2, transcription factor 1 isoform X1

    Conserved Domains (2) summary
    smart00352
    Location:306380
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:408461
    Homeobox; Homeobox domain
  3. XM_011509655.1XP_011507957.1  POU domain, class 2, transcription factor 1 isoform X3

    Related
    ENSP00000414660.4, OTTHUMP00000275373, ENST00000420254.7, OTTHUMT00000416075
    Conserved Domains (2) summary
    smart00352
    Location:306380
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:408461
    Homeobox; Homeobox domain
  4. XM_017001508.2XP_016856997.1  POU domain, class 2, transcription factor 1 isoform X4

  5. XM_011509654.3XP_011507956.1  POU domain, class 2, transcription factor 1 isoform X2

    See identical proteins and their annotated locations for XP_011507956.1

    UniProtKB/Swiss-Prot
    P14859
    UniProtKB/TrEMBL
    A0A024R8Y2
    Related
    ENSP00000441285.2, OTTHUMP00000275918, ENST00000541643.7
    Conserved Domains (2) summary
    smart00352
    Location:280354
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:382435
    Homeobox; Homeobox domain
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