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    POU2AF1 POU class 2 homeobox associating factor 1 [ Homo sapiens (human) ]

    Gene ID: 5450, updated on 9-Dec-2024

    Summary

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    Official Symbol
    POU2AF1provided by HGNC
    Official Full Name
    POU class 2 homeobox associating factor 1provided by HGNC
    Primary source
    HGNC:HGNC:9211
    See related
    Ensembl:ENSG00000110777 MIM:601206; AllianceGenome:HGNC:9211
    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
    BOB1; OBF1; OCAB; OBF-1
    Summary
    Enables transcription coactivator activity. Involved in positive regulation of transcription by RNA polymerase II. Part of RNA polymerase II transcription regulator complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in lymph node (RPKM 29.3), appendix (RPKM 16.6) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POU2AF1 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111352255..111379275, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111362447..111389410, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111222980..111250000, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5505 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111228402-111229248 Neighboring gene Sharpr-MPRA regulatory region 2637 Neighboring gene microRNA 4491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5507 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5509 Neighboring gene RNA, U2 small nuclear 60, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5511 Neighboring gene BTG anti-proliferation factor 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5512 Neighboring gene uncharacterized LOC100132078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5515

    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. Cloning, functional characterization, and mechanism of action of the B-cell-specific transcriptional coactivator OCA-B. Luo Y, et al. Mol Cell Biol, 1995 Aug. PMID 7623806, Free PMC Article
    2. OCA-B regulation of B-cell development and function. Teitell MA. Trends Immunol, 2003 Oct. PMID 14552839
    3. The OBF-1 gene locus confers B cell-specific transcription by restricting the ubiquitous activity of its promoter. Massa S, et al. Eur J Immunol, 2003 Oct. PMID 14515270
    4. POU2AF1 Functions in the Human Airway Epithelium To Regulate Expression of Host Defense Genes. Zhou H, et al. J Immunol, 2016 Apr 1. PMID 26927796, Free PMC Article
    5. Germline variation in the 3'-untranslated region of the POU2AF1 gene is associated with susceptibility to lymphoma. Zhai K, et al. Mol Carcinog, 2017 Aug. PMID 28345816

    See all (62) 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. Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.
      Title: Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy.
    3. Integrated single-cell transcriptomics and epigenomics reveals strong germinal center-associated etiology of autoimmune risk loci.
      Title: Integrated single-cell transcriptomics and epigenomics reveals strong germinal center-associated etiology of autoimmune risk loci.
    4. OBF1 and Oct factors control the germinal center transcriptional program.
      Title: OBF1 and Oct factors control the germinal center transcriptional program.
    5. POU2AF1 promotes MSCs adipogenesis by inhibiting HDAC1 expression.
      Title: POU2AF1 promotes MSCs adipogenesis by inhibiting HDAC1 expression.
    6. Our findings demonstrate a novel role for BOB.1 in B cells during TD GC responses and suggest that its dysregulation may contribute to the pathogenesis of RA by disturbing the B cell-fate determination.
      Title: BOB.1 controls memory B-cell fate in the germinal center reaction.
    7. The specific objective of this study was to measure the expression of SUMO1 and POU2AF1 on first-degree relatives of patients with rheumatoid arthritis.
      Title: Evaluation of SUMO1 and POU2AF1 in whole blood from rheumatoid arthritis patients and at risk relatives.
    8. The number of follicular B2 lymphocytes and expression of the B-cell-specific transcriptional coactivator OcaB increase with age in spleen and in intra-abdominal epididymal white adipose tissue (eWAT), concomitantly with higher circulating levels of IgG and impaired glucose homeostasis.
      Title: Loss of OcaB Prevents Age-Induced Fat Accretion and Insulin Resistance by Altering B-Lymphocyte Transition and Promoting Energy Expenditure.
    9. These findings demonstrate for the first time that functional polymorphism in the 3'-UTR of POU2AF1 is associated with susceptibility, and that single-nucleotide polymorphisms interaction with hsa-miR-633 affects gene expression and increases the risk of lymphoma.
      Title: Germline variation in the 3'-untranslated region of the POU2AF1 gene is associated with susceptibility to lymphoma.
    10. Oct2 and Bob1 are very reliable in determining B cell lineage in the absence of expression of other pan-B cell markers
      Title: Oct2 and Bob1 are sensitive and specific markers in lineage determination of B cell lymphomas with no expression of conventional B cell markers.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    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
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog
    Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables POU domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables transcription coactivator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transcription coregulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to virus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in germinal center B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in humoral immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase II transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of RNA polymerase II transcription regulator complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    POU domain class 2-associating factor 1
    Names
    B-cell-specific coactivator OBF-1
    BOB-1
    OCA-B
    OCT-binding factor 1
    POU class 2 associating 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_006235.3 → NP_006226.2  POU domain class 2-associating factor 1

      See identical proteins and their annotated locations for NP_006226.2

      Status: VALIDATED

      Source sequence(s)
      AP002451, X83504, Z49194
      Consensus CDS
      CCDS31675.1
      UniProtKB/Swiss-Prot
      B2R8Z9, Q14983, Q16633
      Related
      ENSP00000376786.3, ENST00000393067.8
      Conserved Domains (1) summary
      pfam09310
      Location:7 → 255
      PD-C2-AF1; POU domain, class 2, associating factor 1

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      111352255..111379275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017932.2 → XP_016873421.1  POU domain class 2-associating factor 1 isoform X5

    2. XM_005271593.3 → XP_005271650.1  POU domain class 2-associating factor 1 isoform X1

      See identical proteins and their annotated locations for XP_005271650.1

      Conserved Domains (1) summary
      pfam09310
      Location:54 → 302
      PD-C2-AF1; POU domain, class 2, associating factor 1

    3. XM_006718860.5 → XP_006718923.1  POU domain class 2-associating factor 1 isoform X3

      Conserved Domains (1) summary
      pfam09310
      Location:54 → 199
      PD-C2-AF1; POU domain, class 2, associating factor 1

    4. XM_006718859.2 → XP_006718922.1  POU domain class 2-associating factor 1 isoform X2

      Conserved Domains (1) summary
      pfam09310
      Location:27 → 275
      PD-C2-AF1; POU domain, class 2, associating factor 1

    5. XM_047427137.1 → XP_047283093.1  POU domain class 2-associating factor 1 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      111362447..111389410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16633.1 GenPept UniProtKB/Swiss-Prot:Q16633

    Gene LinkOut

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

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