IGLL1: Immunoglobulin Lambda Like Polypeptide 1
A critical component of the pre-B cell receptor complex essential for B cell development
Gene Information Card
| Symbol | IGLL1 |
|---|---|
| Full Name | Immunoglobulin Lambda Like Polypeptide 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 3543 ncbi.nlm.nih.gov/gene/3543 |
| Ensembl ID | ENSG00000128322 |
| UniProt ID | P15814 |
| OMIM ID | 146770 |
| HGNC ID | 5870 |
| Aliases | CD179b, 14.1, IGL1, IGLL, VPREB2 |
Description
IGLL1 encodes the immunoglobulin lambda-like polypeptide 1, a component of the pre-B cell receptor (pre-BCR). This protein forms a complex with the surrogate light chain (VpreB) and the immunoglobulin mu heavy chain, playing an essential role in early B cell development by signaling successful rearrangement of the heavy chain locus and promoting B cell maturation. Mutations in IGLL1 cause autosomal recessive agammaglobulinemia type 2 (AGM2), characterized by a block in B cell differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Agammaglobulinemia 2 (AGM2) | Loss-of-function mutations in IGLL1 disrupt pre-BCR assembly, blocking B cell development at the pro-B to pre-B cell transition, leading to absent mature B cells and hypogammaglobulinemia. | ClinVar, OMIM |
| B-cell acute lymphoblastic leukemia (B-ALL) | Somatic rearrangements and aberrant expression of IGLL1 are observed in B-ALL, potentially contributing to leukemogenesis through altered pre-BCR signaling. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.5 | High |
| Lymph Node | 8.3 | Medium |
| Spleen | 6.1 | Medium |
| Appendix | 4.7 | Low |
| Blood | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 15.2 | B cell line, high expression |
| Daudi (Burkitt lymphoma) | 14.8 | B cell line, high expression |
| K-562 (leukemia) | 0.5 | Non-B cell line, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335G>A (p.Trp112*) | Nonsense | Rare (AGM2) | Loss of function; premature stop codon truncates protein, abolishing pre-BCR function |
| c.130C>T (p.Arg44*) | Nonsense | Rare (AGM2) | Loss of function; early truncation prevents surrogate light chain assembly |
| c.1A>G (p.Met1?) | Start loss | Rare (AGM2) | Loss of function; translation initiation failure |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations in IGLL1 cause autosomal recessive agammaglobulinemia by preventing pre-BCR expression and B cell maturation.
Gain of Function (GOF)
Not reported in IGLL1.
Dominant Negative (DN)
Not reported in IGLL1.
View complete mutation data：
Gene Ontology (GO)
| • immunoglobulin production (GO:0002376) | • B cell receptor signaling pathway (GO:0050853) |
| • pre-B cell receptor complex (GO:0042101) | • antigen binding (GO:0003823) |
| • plasma membrane (GO:0005886) |
Pathways
• Pre-B cell receptor signaling (Reactome: R-HSA-983705)
• B cell development (KEGG: hsa04662)
Protein Summary
IGLL1 encodes the immunoglobulin lambda-like polypeptide 1 (CD179b), a 213-amino acid protein that serves as the surrogate light chain component of the pre-B cell receptor. It pairs with VpreB (encoded by VPREB1) to form the surrogate light chain, which associates with the rearranged mu heavy chain on the surface of pre-B cells. This complex triggers signaling cascades that promote B cell proliferation, allelic exclusion, and transition to the immature B cell stage. The protein is expressed primarily in B lymphoid tissues and is essential for normal humoral immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IGLL1 Knockout HEK293 Cell Line | EDJ-KQ3480 | Human | 3543 | Details Get a Quote |
| IGLL1 Knockout HeLa Cell Line | EDJ-KQ53626 | Human | 3543 | Details Get a Quote |
| IGLL1 Knockout A-549 Cell Line | EDJ-KQ62099 | Human | 3543 | Details Get a Quote |
| IGLL1 Knockout HCT 116 Cell Line | EDJ-KQ70586 | Human | 3543 | Details Get a Quote |
