VPREB1

Pre-B Lymphocyte Gene 1

Gene Information Card

Symbol VPREB1
Full Name Pre-B Lymphocyte Gene 1
Gene Type Protein coding
Chromosomal Location 22q11.22
NCBI Gene ID 7441 ncbi.nlm.nih.gov/gene/7441
Ensembl ID ENSG00000169575
UniProt ID P12018
OMIM ID 605141
HGNC ID 12712
Aliases IGVPB, VpreB, CD179a

Description

VPREB1 encodes a component of the surrogate light chain, which is expressed on the surface of pre-B cells and plays a critical role in B cell development. It associates with the immunoglobulin heavy chain to form the pre-B cell receptor, facilitating the transition from pro-B to pre-B cell stage.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
B-cell acute lymphoblastic leukemia (B-ALL) VPREB1 rearrangements (e.g., with PAX5) drive leukemogenesis PMID: 17344846
Multiple myeloma VPREB1 expression is aberrantly upregulated in some myeloma cells PMID: 11134221
Immunodeficiency Mutations affecting pre-BCR signaling impair B cell development PMID: 10631119

Expression Profile

Tissue Expression
Tissue nTPM level
Bone Marrow 0.0 Not detected
Lymph Node 0.0 Not detected
Spleen 0.0 Not detected
Thymus 0.0 Not detected
Whole Blood 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
NALM6 (B-ALL) 0.0 Not expressed in this cell line
REH (B-ALL) 0.0 Not expressed
K562 (CML) 0.0 Not expressed
HEK293 (embryonic kidney) 0.0 Not expressed
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
PAX5-VPREB1 fusion Translocation Rare in B-ALL Oncogenic fusion protein disrupts B cell differentiation
VPREB1 deletion Loss Rare Impaired pre-BCR formation
Mutation functional classification

Loss of Function (LOF)

Deletions or inactivating mutations impair pre-BCR assembly, blocking B cell development at the pro-B stage.

Gain of Function (GOF)

Not described.

Dominant Negative (DN)

Not described.

Gene Ontology (GO)

• immunoglobulin receptor binding • antigen binding
• B cell receptor signaling pathway • pre-B cell receptor assembly
• cell surface

Pathways

• Pre-B cell receptor signaling
• B cell receptor signaling
• Immunoglobulin light chain biosynthesis

Protein Summary

The VPREB1 protein (VpreB1) is a 145-amino acid polypeptide that forms the surrogate light chain together with λ5 (IGLL1). It is expressed on the surface of early B cells and is essential for pre-B cell receptor function, which drives clonal expansion and immunoglobulin gene rearrangement.

Related Products

Product name Cat.No. Species Gene ID
VPREB1 Knockout HEK293 Cell Line EDJ-KQ6008 Human 7441 Details Get a Quote
VPREB1 Knockout HeLa Cell Line EDJ-KQ54741 Human 7441 Details Get a Quote
VPREB1 Knockout A-549 Cell Line EDJ-KQ63235 Human 7441 Details Get a Quote
VPREB1 Knockout HCT 116 Cell Line EDJ-KQ71699 Human 7441 Details Get a Quote
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