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

Gene ID: 5451, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:9212
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; Oct1Z; 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
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Genomic context

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See POU2F1 in Genome Data Viewer
Location:
1q24.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167220885..167427345)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166572283..166778684)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (167190122..167396582)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167170747-167171247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1519 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2036 Neighboring gene POU2F1 divergent transcript Neighboring gene uncharacterized LOC124900412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2038 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:167269998-167270202 Neighboring gene VISTA enhancer hs1331 Neighboring gene MPRA-validated peak441 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167393486-167394456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167394457-167395427 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:167399000-167399906 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:167399907-167400813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1525 Neighboring gene uncharacterized LOC101928512 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1528 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1529 Neighboring gene CD247 molecule Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167455187-167455767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:167472740-167473240 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:167486398-167487597 Neighboring gene uncharacterized LOC107985224 Neighboring gene aldo-keto reductase family 1 member D1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. LncRNA AC026401.3 interacts with OCT1 to intensify sorafenib and lenvatinib resistance by activating E2F2 signaling in hepatocellular carcinoma. Wang Y, et al. Exp Cell Res, 2022 Nov 1. PMID 36084669
  2. Substrates of the Human Brain Proton-Organic Cation Antiporter and Comparison with Organic Cation Transporter 1 Activities. Doetsch DA, et al. Int J Mol Sci, 2022 Jul 29. PMID 35955563, Free PMC Article
  3. Primate-specific stress-induced transcription factor POU2F1Z protects human neuronal cells from stress. Stepchenko AG, et al. Sci Rep, 2021 Sep 22. PMID 34552146, Free PMC Article
  4. Octamer transcription factor-1 induces the Warburg effect via up-regulation of hexokinase 2 in non-small cell lung cancer. Li Z, et al. Mol Cell Biochem, 2021 Sep. PMID 33970409
  5. Novel small molecular inhibitor of Pit-Oct-Unc transcription factor 1 suppresses hepatocellular carcinoma cell proliferation. Wang Y, et al. Life Sci, 2021 Jul 15. PMID 33891940

See all (238) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcriptional Coactivator BOB1 (OBF1, OCA-B) Modulates the Specificity of DNA Recognition by the POU-Domain Factors OCT1 and OCT2 in a Monomeric Configuration.
    Title: Transcriptional Coactivator BOB1 (OBF1, OCA-B) Modulates the Specificity of DNA Recognition by the POU-Domain Factors OCT1 and OCT2 in a Monomeric Configuration.
  2. Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through Transcription Factor Oct-1.
    Title: Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through Transcription Factor Oct-1.
  3. Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells.
    Title: Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells.
  4. LncRNA AC026401.3 interacts with OCT1 to intensify sorafenib and lenvatinib resistance by activating E2F2 signaling in hepatocellular carcinoma.
    Title: LncRNA AC026401.3 interacts with OCT1 to intensify sorafenib and lenvatinib resistance by activating E2F2 signaling in hepatocellular carcinoma.
  5. Substrates of the Human Brain Proton-Organic Cation Antiporter and Comparison with Organic Cation Transporter 1 Activities.
    Title: Substrates of the Human Brain Proton-Organic Cation Antiporter and Comparison with Organic Cation Transporter 1 Activities.
  6. NPR3, transcriptionally regulated by POU2F1, inhibits osteosarcoma cell growth through blocking the PI3K/AKT pathway.
    Title: NPR3, transcriptionally regulated by POU2F1, inhibits osteosarcoma cell growth through blocking the PI3K/AKT pathway.
  7. Positive feedback loop of lncRNA FAM201A/miR146a5p/POU2F1 regulates IL1betainduced chondrocyte injury in vitro.
    Title: Positive feedback loop of lncRNA FAM201A/miR‑146a‑5p/POU2F1 regulates IL‑1β‑induced chondrocyte injury in vitro.
  8. Hypoxia-inducible lncRNA MIR210HG interacting with OCT1 is involved in glioblastoma multiforme malignancy.
    Title: Hypoxia-inducible lncRNA MIR210HG interacting with OCT1 is involved in glioblastoma multiforme malignancy.
  9. OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH.
    Title: OCT1 Is a Poor Prognostic Factor for Breast Cancer Patients and Promotes Cell Proliferation via Inducing NCAPH.
  10. Primate-specific stress-induced transcription factor POU2F1Z protects human neuronal cells from stress.
    Title: Primate-specific stress-induced transcription factor POU2F1Z protects human neuronal cells from stress.
Submit: New GeneRIF Correction See all GeneRIFs (139)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42836

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IC
Inferred by Curator
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA polymerase II core promoter sequence-specific DNA binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of miRNA transcription IC
Inferred by Curator
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IMP
Inferred from Mutant Phenotype
more info
 PubMed 
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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

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_001198783.2 → NP_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/TrEMBL
    A0A0P0GE07
    Related
    ENSP00000356836.5, ENST00000367862.9
    Conserved Domains (2) summary
    smart00352
    Location:292 → 366
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:394 → 448
    Homeobox; Homeobox domain

  2. NM_001198786.2 → NP_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/TrEMBL
    A0A0P0GE07
    Related
    ENSP00000401217.2, ENST00000429375.6
    Conserved Domains (2) summary
    smart00352
    Location:240 → 314
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:342 → 395
    Homeobox; Homeobox domain

  3. NM_001365848.1 → NP_001352777.1  POU domain, class 2, transcription factor 1 isoform 4 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variant 6, encodes isoform 4.
    Source sequence(s)
    AK091438, AL136984, AL359962, AL451050
    UniProtKB/TrEMBL
    A0A8A2IE78, B3KRE9
    Related
    ENST00000367865.5
    Conserved Domains (2) summary
    smart00352
    Location:278 → 352
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:380 → 434
    Homeobox; Homeobox domain

  4. NM_001365849.1 → NP_001352778.1  POU domain, class 2, transcription factor 1 isoform 4 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6), as well as variant 5, encodes isoform 4.
    Source sequence(s)
    AL136984, AL359962, AL451050
    UniProtKB/TrEMBL
    A0A8A2IE78, B3KRE9
    Conserved Domains (2) summary
    smart00352
    Location:278 → 352
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:380 → 434
    Homeobox; Homeobox domain

  5. NM_002697.4 → NP_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/TrEMBL
    A0A0P0GE07
    Related
    ENSP00000356840.2, ENST00000367866.7
    Conserved Domains (2) summary
    smart00352
    Location:303 → 377
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:405 → 459
    Homeobox; Homeobox domain

RNA

  1. NR_037163.2 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

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
    167220885..167427345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509655.2 → XP_011507957.1  POU domain, class 2, transcription factor 1 isoform X3

    UniProtKB/TrEMBL
    A0A0A0MT46
    Conserved Domains (2) summary
    smart00352
    Location:306 → 380
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:408 → 461
    Homeobox; Homeobox domain

  2. XM_011509653.2 → XP_011507955.1  POU domain, class 2, transcription factor 1 isoform X1

    UniProtKB/TrEMBL
    A0A0P0GE07
    Conserved Domains (2) summary
    smart00352
    Location:306 → 380
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:408 → 461
    Homeobox; Homeobox domain

  3. XM_047422877.1 → XP_047278833.1  POU domain, class 2, transcription factor 1 isoform X4

    Related
    ENSP00000415993.1, ENST00000443275.2

  4. XM_017001508.3 → XP_016856997.1  POU domain, class 2, transcription factor 1 isoform X5

  5. XM_047422875.1 → XP_047278831.1  POU domain, class 2, transcription factor 1 isoform X2

    UniProtKB/Swiss-Prot
    B1AL91, B1AL93, B4E029, J3KP77, P14859, Q5TBT7, Q6PK46, Q8NEU9, Q9BPV1

  6. XM_011509654.4 → XP_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
    B1AL91, B1AL93, B4E029, J3KP77, P14859, Q5TBT7, Q6PK46, Q8NEU9, Q9BPV1
    UniProtKB/TrEMBL
    A0A0P0GE07
    Related
    ENSP00000441285.2, ENST00000541643.7
    Conserved Domains (2) summary
    smart00352
    Location:280 → 354
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:382 → 436
    Homeobox; Homeobox domain

  7. XM_047422869.1 → XP_047278825.1  POU domain, class 2, transcription factor 1 isoform X2

    UniProtKB/Swiss-Prot
    B1AL91, B1AL93, B4E029, J3KP77, P14859, Q5TBT7, Q6PK46, Q8NEU9, Q9BPV1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    166572283..166778684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337131.1 → XP_054193106.1  POU domain, class 2, transcription factor 1 isoform X1

  2. XM_054337135.1 → XP_054193110.1  POU domain, class 2, transcription factor 1 isoform X3

  3. XM_054337136.1 → XP_054193111.1  POU domain, class 2, transcription factor 1 isoform X4

  4. XM_054337137.1 → XP_054193112.1  POU domain, class 2, transcription factor 1 isoform X5

  5. XM_054337134.1 → XP_054193109.1  POU domain, class 2, transcription factor 1 isoform X2

    UniProtKB/Swiss-Prot
    B1AL91, B1AL93, B4E029, J3KP77, P14859, Q5TBT7, Q6PK46, Q8NEU9, Q9BPV1

  6. XM_054337133.1 → XP_054193108.1  POU domain, class 2, transcription factor 1 isoform X2

    UniProtKB/Swiss-Prot
    B1AL91, B1AL93, B4E029, J3KP77, P14859, Q5TBT7, Q6PK46, Q8NEU9, Q9BPV1

  7. XM_054337132.1 → XP_054193107.1  POU domain, class 2, transcription factor 1 isoform X2

    UniProtKB/Swiss-Prot
    B1AL91, B1AL93, B4E029, J3KP77, P14859, Q5TBT7, Q6PK46, Q8NEU9, Q9BPV1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P14859.2 GenPept UniProtKB/Swiss-Prot:P14859

Gene LinkOut

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