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

    Gene ID: 5450, updated on 5-Aug-2022

    Summary

    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, Apr 2022]
    Expression
    Biased expression in lymph node (RPKM 29.3), appendix (RPKM 16.6) and 9 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See POU2AF1 in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111352255..111379275, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111362447..111389410, complement)
    105.20220307 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 Sharpr-MPRA regulatory region 2637 Neighboring gene microRNA 4491 Neighboring gene RNA, U2 small nuclear 60, pseudogene Neighboring gene BTG anti-proliferation factor 4 Neighboring gene uncharacterized LOC100132078

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA 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
    PubMed 
    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 DNA-templated transcription elongation IEA
    Inferred from Electronic Annotation
    more info
     
    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
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 

    General protein information

    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)

    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_006235.3NP_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
      Q14983, Q16633
      Related
      ENSP00000376786.3, ENST00000393067.8
      Conserved Domains (1) summary
      pfam09310
      Location:7255
      PD-C2-AF1; POU domain, class 2, associating factor 1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_017017932.2XP_016873421.1  POU domain class 2-associating factor 1 isoform X5

    2. XM_005271593.3XP_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:54302
      PD-C2-AF1; POU domain, class 2, associating factor 1
    3. XM_006718860.5XP_006718923.1  POU domain class 2-associating factor 1 isoform X3

      Conserved Domains (1) summary
      pfam09310
      Location:54199
      PD-C2-AF1; POU domain, class 2, associating factor 1
    4. XM_006718859.2XP_006718922.1  POU domain class 2-associating factor 1 isoform X2

      Conserved Domains (1) summary
      pfam09310
      Location:27275
      PD-C2-AF1; POU domain, class 2, associating factor 1
    5. XM_047427137.1XP_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)