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

    Gene ID: 5450, updated on 10-Dec-2024

    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, Dec 2024]
    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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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (28 hits/1266 screens)

    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

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding  
    enables POU domain binding  
    enables protein binding PubMed 
    enables transcription coactivator activity  
    enables transcription coactivator activity PubMed 
    enables transcription coactivator activity  
    enables transcription coregulator activity 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_006235.3 → 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)
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