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

Gene ID: 5450, updated on 22-Sep-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
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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 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)

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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_006235.3NP_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)