Biology:IGLL1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Immunoglobulin lambda-like polypeptide 1 is a protein that in humans is encoded by the IGLL1 gene. IGLL1 has also recently been designated CD179B (cluster of differentiation 179B).

Mutations in this gene can result in B cell deficiency and agammaglobulinemia-2, an autosomal recessive disease in which few or no gamma globulins or antibodies are made. Two transcript variants encoding different isoforms have been found for this gene.

Function

Two copies of IGLL1+VPREB1 (CD179B+CD179A) forms a pre-B cell receptor (pre-BCR) with the membrane-bound IgM (μ) heavy chain and the signaling molecules Igα and Igβ (CD79). Compared to the true BCR, IGLL1 and VPREB1 together take the place of the light chain, hence the name "surrogate light chain". In the surrogate light chain, IGLL1 takes the role of the C (constant) region while VPREB takes the role of the V ("variable") region.

The pre-BCR is found on the surface of proB and preB cells, where it is involved in transduction of signals for cellular proliferation, differentiation from the proB cell to the preB cell stage, allelic exclusion at the Ig heavy chain gene locus, and promotion of Ig light chain gene rearrangements.

IGLL1 is a mammalian-specific duplication of a immunoglobulin light chain lambda. It is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement.

Further reading

• "Genomic structure of the human Ig lambda 1 gene suggests that it may be expressed as an Ig lambda 14.1-like protein or as a canonical B cell Ig lambda light chain: implications for Ig lambda gene evolution". The Journal of Experimental Medicine 173 (2): 305–311. 1991. doi:10.1084/jem.173.2.305. PMID 1703205. 
• "Organization and expression of the lambda-like genes that contribute to the mu-psi light chain complex in human pre-B cells". International Immunology 3 (11): 1081–1090. November 1991. doi:10.1093/intimm/3.11.1081. PMID 1760403. 
• "The human pre-B-specific lambda-like cluster is located in the 22q11.2-22q12.3 region, distal to the IgC lambda locus". Genomics 9 (3): 544–546. March 1991. doi:10.1016/0888-7543(91)90422-B. PMID 1903358. 
• "The products of pre-B cell-specific genes (lambda 5 and VpreB) and the immunoglobulin mu chain form a complex that is transported onto the cell surface". The Journal of Experimental Medicine 172 (3): 973–976. 1990. doi:10.1084/jem.172.3.973. PMID 2117639. 
• "The immunoglobulin lambda-like gene cluster (14.1, 16.1 and F lambda 1) contains gene(s) selectively expressed in pre-B cells and is the human counterpart of the mouse lambda 5 gene". International Immunology 2 (3): 201–207. 1990. doi:10.1093/intimm/2.3.201. PMID 2128466. 
• "Immunoglobulin lambda light-chain-related genes 14.1 and 16.1 are expressed in pre-B cells and may encode the human immunoglobulin omega light-chain protein". Proceedings of the National Academy of Sciences of the United States of America 86 (14): 5552–5556. July 1989. doi:10.1073/pnas.86.14.5552. PMID 2501791. Bibcode: 1989PNAS...86.5552H. 
• "Identification of three new Ig lambda-like genes in man". The Journal of Experimental Medicine 163 (2): 425–435. February 1986. doi:10.1084/jem.163.2.425. PMID 3003227. 
• "Molecular components and assembly of mu.surrogate light chain complexes in pre-B cell lines". The Journal of Biological Chemistry 269 (45): 28347–28353. 1994. doi:10.1016/S0021-9258(18)46934-7. PMID 7961773. 
• "Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2". Immunogenetics 38 (6): 387–399. 1993. doi:10.1007/BF00184519. PMID 8406611. 
• "Crystallization of a complex between the Fab fragment of a human immunoglobulin M (IgM) rheumatoid factor (RF-AN) and the Fc fragment of human IgG4". Immunology 88 (4): 636–641. August 1996. doi:10.1046/j.1365-2567.1996.d01-692.x. PMID 8881769. 
• "The 14.1 surrogate light chain promoter has lineage- and stage-restricted activity". Journal of Immunology (Baltimore) 158 (4): 1681–1691. 1997. doi:10.4049/jimmunol.158.4.1681. PMID 9029104. 
• "One-megabase sequence analysis of the human immunoglobulin lambda gene locus". Genome Research 7 (3): 250–261. March 1997. doi:10.1101/gr.7.3.250. PMID 9074928. 
• "Structure of human IgM rheumatoid factor Fab bound to its autoantigen IgG Fc reveals a novel topology of antibody-antigen interaction". Nature Structural Biology 4 (5): 374–381. May 1997. doi:10.1038/nsb0597-374. PMID 9145108. 
• "Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia". The Journal of Experimental Medicine 187 (1): 71–77. January 1998. doi:10.1084/jem.187.1.71. PMID 9419212. 
• "Lambda5 is required for rearrangement of the Ig kappa light chain gene in pro-B cell lines". International Immunology 11 (8): 1195–1202. August 1999. doi:10.1093/intimm/11.8.1195. PMID 10421777. 
• "Transgenic human lambda 5 rescues the murine lambda 5 nullizygous phenotype". Journal of Immunology (Baltimore) 164 (10): 5269–5276. May 2000. doi:10.4049/jimmunol.164.10.5269. PMID 10799888. 
• "Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway". Blood 96 (2): 610–617. July 2000. PMID 10887125. 
• "Conventional and surrogate light chains differentially regulate Ig mu and Dmu heavy chain maturation and surface expression". Journal of Immunology (Baltimore) 167 (7): 3846–3857. 2001. doi:10.4049/jimmunol.167.7.3846. PMID 11564802. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.