IGLL1

IGLL1
Identifiers
Aliases	IGLL1, 14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2, immunoglobulin lambda like polypeptide 1
External IDs	OMIM: 146770; MGI: 96529; GeneCards: IGLL1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2H32, 2H3N, 2LKQ
Gene location (Human) Chr. Chromosome 22 (human)[1] Band 22q11.23 Start 23,573,125 bp[1] End 23,580,302 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 A3|16 10.45 cM Start 16,678,535 bp[2] End 16,681,849 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bone marrow bone marrow cell testicle left testis right testis trabecular bone thymus monocyte lymph node spleen Top expressed in bone marrow granulocyte embryo choroid plexus brown adipose tissue choroid plexus of fourth ventricle Region I of hippocampus proper inferior colliculi secondary oocyte CA3 field More reference expression data BioGPS More reference expression data
Gene ontology Molecular function immunoglobulin receptor binding antigen binding Cellular component blood microparticle membrane external side of plasma membrane immunoglobulin complex, circulating extracellular region Biological process B cell receptor signaling pathway phagocytosis, recognition positive regulation of B cell activation phagocytosis, engulfment innate immune response defense response to bacterium immune response complement activation, classical pathway leukocyte migration Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 3543 16136 Ensembl ENSG00000128322 ENSMUSG00000075370 UniProt P15814 P20764 RefSeq (mRNA) NM_020070 NM_152855 NM_001369906 NM_001190325 RefSeq (protein) NP_064455 NP_690594 NP_001356835 NP_001177254 Location (UCSC) Chr 22: 23.57 – 23.58 Mb Chr 16: 16.68 – 16.68 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Immunoglobulin lambda-like polypeptide 1 is a protein that in humans is encoded by the IGLL1 gene.^[5][6][7] 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".^[7] In the surrogate light chain, IGLL1 takes the role of the C (constant) region while VPREB takes the role of the V ("variable") region.^[8]

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.^[7]

IGLL1 is a mammalian-specific duplication of a immunoglobulin light chain lambda.^[9] It is a member of the immunoglobulin gene superfamily. This gene does not undergo rearrangement.^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000128322 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000075370 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Bauer SR, Huebner K, Budarf M, Finan J, Erikson J, Emanuel BS, et al. (November 1988). "The human Vpre B gene is located on chromosome 22 near a cluster of V lambda gene segments". Immunogenetics. 28 (5): 328–333. doi:10.1007/BF00364231. PMID 3139558. S2CID 6981867.
6. Schiff C, Milili M, Fougereau M (December 1989). "Isolation of early immunoglobulin lambda-like gene transcripts in human fetal liver". European Journal of Immunology. 19 (10): 1873–1878. doi:10.1002/eji.1830191018. PMID 2511029. S2CID 84544002.
7. "Entrez Gene: IGLL1 immunoglobulin lambda-like polypeptide 1".
8. Winkler TH, Mårtensson IL (2018). "The Role of the Pre-B Cell Receptor in B Cell Development, Repertoire Selection, and Tolerance". Frontiers in Immunology. 9 2423. doi:10.3389/fimmu.2018.02423. PMC 6249383. PMID 30498490.
9. Flajnik MF (November 2024). "The Janus (dual) model of immunoglobulin isotype evolution: Conservation and plasticity are the defining paradigms". Immunological Reviews. 328 (1): 49–64. doi:10.1111/imr.13389. PMC 12010099. PMID 39223989.

Further reading

• Evans RJ, Hollis GF (1991). "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. doi:10.1084/jem.173.2.305. PMC 2118775. PMID 1703205.
• Bossy D, Milili M, Zucman J, Thomas G, Fougereau M, Schiff C (November 1991). "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. doi:10.1093/intimm/3.11.1081. PMID 1760403.
• Mattei MG, Fumoux F, Roeckel N, Fougereau M, Schiff C (March 1991). "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. doi:10.1016/0888-7543(91)90422-B. PMID 1903358.
• Tsubata T, Reth M (1990). "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. doi:10.1084/jem.172.3.973. PMC 2188549. PMID 2117639.
• Schiff C, Bensmana M, Guglielmi P, Milili M, Lefranc MP, Fougereau M (1990). "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. doi:10.1093/intimm/2.3.201. PMID 2128466.
• Hollis GF, Evans RJ, Stafford-Hollis JM, Korsmeyer SJ, McKearn JP (July 1989). "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. Bibcode:1989PNAS...86.5552H. doi:10.1073/pnas.86.14.5552. PMC 297661. PMID 2501791.
• Chang H, Dmitrovsky E, Hieter PA, Mitchell K, Leder P, Turoczi L, et al. (February 1986). "Identification of three new Ig lambda-like genes in man". The Journal of Experimental Medicine. 163 (2): 425–435. doi:10.1084/jem.163.2.425. PMC 2188038. PMID 3003227.
• Ohnishi K, Takemori T (1994). "Molecular components and assembly of mu.surrogate light chain complexes in pre-B cell lines". The Journal of Biological Chemistry. 269 (45): 28347–28353. doi:10.1016/S0021-9258(18)46934-7. PMID 7961773.
• Bauer TR, McDermid HE, Budarf ML, Van Keuren ML, Blomberg BB (1993). "Physical location of the human immunoglobulin lambda-like genes, 14.1, 16.1, and 16.2". Immunogenetics. 38 (6): 387–399. doi:10.1007/BF00184519. hdl:2027.42/46751. PMID 8406611. S2CID 19311673.
• Sohi MK, Corper AL, Wan T, Steinitz M, Jefferis R, Beale D, et al. (August 1996). "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. doi:10.1046/j.1365-2567.1996.d01-692.x. PMC 1456622. PMID 8881769.
• Donohoe ME, Blomberg BB (1997). "The 14.1 surrogate light chain promoter has lineage- and stage-restricted activity". Journal of Immunology. 158 (4). Baltimore: 1681–1691. doi:10.4049/jimmunol.158.4.1681. PMID 9029104. S2CID 29592657.
• Kawasaki K, Minoshima S, Nakato E, Shibuya K, Shintani A, Schmeits JL, et al. (March 1997). "One-megabase sequence analysis of the human immunoglobulin lambda gene locus". Genome Research. 7 (3): 250–261. doi:10.1101/gr.7.3.250. PMID 9074928.
• Corper AL, Sohi MK, Bonagura VR, Steinitz M, Jefferis R, Feinstein A, et al. (May 1997). "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. doi:10.1038/nsb0597-374. PMID 9145108. S2CID 34331252.
• Minegishi Y, Coustan-Smith E, Wang YH, Cooper MD, Campana D, Conley ME (January 1998). "Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia". The Journal of Experimental Medicine. 187 (1): 71–77. doi:10.1084/jem.187.1.71. PMC 2199185. PMID 9419212.
• Miyazaki T, Kato I, Takeshita S, Karasuyama H, Kudo A (August 1999). "Lambda5 is required for rearrangement of the Ig kappa light chain gene in pro-B cell lines". International Immunology. 11 (8): 1195–1202. doi:10.1093/intimm/11.8.1195. PMID 10421777.
• Donohoe ME, Beck-Engeser GB, Lonberg N, Karasuyama H, Riley RL, Jäck HM, et al. (May 2000). "Transgenic human lambda 5 rescues the murine lambda 5 nullizygous phenotype". Journal of Immunology. 164 (10). Baltimore: 5269–5276. doi:10.4049/jimmunol.164.10.5269. PMID 10799888.
• Nomura K, Kanegane H, Karasuyama H, Tsukada S, Agematsu K, Murakami G, et al. (July 2000). "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. PMID 10887125.
• Fang T, Smith BP, Roman CA (2001). "Conventional and surrogate light chains differentially regulate Ig mu and Dmu heavy chain maturation and surface expression". Journal of Immunology. 167 (7). Baltimore: 3846–3857. 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.