U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

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

    Gene ID: 5451, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    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
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See POU2F1 in Genome Data Viewer
    Location:
    1q24.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (167220885..167427345)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (166572283..166778684)
    RS_2024_09 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Gene switching by metabolic enzymes--how did you get on the invitation list? McKnight S. Cell, 2003 Jul 25. PMID 12887915
    2. Genetically polymorphic OCT1: another piece in the puzzle of the variable pharmacokinetics and pharmacodynamics of the opioidergic drug tramadol. Tzvetkov MV, et al. Clin Pharmacol Ther, 2011 Jul. PMID 21562485
    3. Differentiation of Monocytic Cells Is Accompanied by a Change in the Expression of the Set of Oct-1 Isoforms. Stepchenko AG, et al. Dokl Biochem Biophys, 2018 Nov. PMID 30607726
    4. Negative regulation of human U6 snRNA promoter by p38 kinase through Oct-1. Lin BR, et al. Gene, 2012 Apr 15. PMID 22310390, Free PMC Article
    5. Octamer-binding transcription factor-1 gene is upregulated in primary varicose veins. Jeong GA, et al. Ann Vasc Surg, 2008 Jan. PMID 18083338

    See all (246) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The POU2F1-ALDOA axis promotes the proliferation and chemoresistance of colon cancer cells by enhancing glycolysis and the pentose phosphate pathway activity.
      Title: The POU2F1-ALDOA axis promotes the proliferation and chemoresistance of colon cancer cells by enhancing glycolysis and the pentose phosphate pathway activity.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (140)

    Phenotypes

    Go to the top of the page Help

    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

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

    Go to the top of the page Help

    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

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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 identical protein binding IPI
    Inferred from Physical Interaction
    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 
    located_in 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

    Go to the top of the page Help
    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)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2024_08

    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

      UniProtKB/TrEMBL
      A0A0A0MT46
      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
      UniProtKB/TrEMBL
      A0A0P0GE07

    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
      UniProtKB/TrEMBL
      A0A0P0GE07

    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

      UniProtKB/TrEMBL
      A0A0P0GE07

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

      UniProtKB/TrEMBL
      A0A0A0MT46

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

      UniProtKB/TrEMBL
      A0A0A0MT46

    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
      UniProtKB/TrEMBL
      A0A0P0GE07

    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
      UniProtKB/TrEMBL
      A0A0P0GE07

    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
      UniProtKB/TrEMBL
      A0A0P0GE07
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14859.2 GenPept UniProtKB/Swiss-Prot:P14859

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools