Alt. symbols: OBF1 | BOB1

Approved name: POU class 2 homeobox associating factor 1
Alt. names: POU domain class 2, associating factor 1, POU class 2 associating factor 1

Location: 11q23.1: 111352255 - 111455630 (-)
Gene type: protein_coding, 12 transcripts.

Scores: LoFtool: 0.079600 | pLI: 0.75281787 | LOEUF: 0.568

HGNC: 9211

NCBI: 5450, RefSeq: .0

Ensembl: ENSG00000110777.12

LRG_ | Status: none

OMIM: 601206

Expression | ProteinAtlas

BOB1, also known as POU2AF1, is a protein that plays a crucial role in the development and function of B cells. It acts as a co-activator of gene transcription; particularly, it confers octamer-dependent specificity to the transcription factors Oct-1 and Oct-2, and activates and regulates the expression of genes that are key for B cell function, such as those encoding B-cell receptor (BCR) signaling molecules. BOB1 deficiency can alter B-cell differentiation, whereas over-activity of BOB1 can lead to the overproduction of certain proteins, which can contribute to the development of diseases such as lymphoma.

Complete deficiency of BOB1 has thus far been reported to lead to agammaglobulinemia in one boy (PMID:33571536). Lack of BOB1 in humans can disturb B-cell differentiation and lead to: decreased class-switched memory B cell numbers, relatively increased atypical-memory cells, defective marginal zone–like B-cell formation and abolished plasmablast formation, with overall normal B-cell numbers. Naive B cells may show an abnormal expression pattern of surface receptors and signaling molecules (IgD, IgM, CD79a, CD79b, and Syk). B cells show reduced BAFF-R and CD22 expression and compromised responses to BCR or CD40 stimulation. BOB1 deficiency results in impaired in vivo T-dependent responses, with a lack of germinal centers and a reduction in circulating T-follicular helper (TFH) cells. [Load More]