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

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: mouse all
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Genomic context

Location:: 11q23.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (111352255..111379275, complement)
RS_2023_10	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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
OBF1 and Oct factors control the germinal center transcriptional program.
Title: OBF1 and Oct factors control the germinal center transcriptional program.
POU2AF1 promotes MSCs adipogenesis by inhibiting HDAC1 expression.
Title: POU2AF1 promotes MSCs adipogenesis by inhibiting HDAC1 expression.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH47038 (e-PCR)
- UniSTS:53273

STS-Z49194 (e-PCR)
- UniSTS:19267

SHGC-146807 (e-PCR)
- UniSTS:172690

D11S1986 (e-PCR)
- UniSTS:29393

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)

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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

111352255..111379275 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017017932.2 → XP_016873421.1 POU domain class 2-associating factor 1 isoform X5
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
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
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
XM_047427137.1 → XP_047283093.1 POU domain class 2-associating factor 1 isoform X4