IGFALS
| IGFALS | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | IGFALS, ALS, ACLSD, insulin like growth factor binding protein acid labile subunit | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601489; MGI: 107973; HomoloGene: 37987; GeneCards: IGFALS; OMA:IGFALS - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene.[5]
Function
The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Three transcript variants encoding two different isoforms have been found for this gene.[5]
Clinical significance
Defects in this gene are a cause of acid-labile subunit deficiency, which manifests itself in a delayed and slow puberty. [6]
Interactions
IGFALS has been shown to interact with IGFBP3.[7][8]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000099769 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046070 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: IGFALS insulin-like growth factor binding protein, acid labile subunit".
- ^ Bocchini, Carol A. (25 August 2014). "ACID-LABILE SUBUNIT DEFICIENCY; ACLSD". OMIM - An Online Catalog of Human Genes and Genetic Disorders. Retrieved 21 February 2024.
- ^ Twigg SM, Baxter RC (March 1998). "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit". J. Biol. Chem. 273 (11): 6074–9. doi:10.1074/jbc.273.11.6074. PMID 9497324.
- ^ Firth SM, Ganeshprasad U, Baxter RC (January 1998). "Structural determinants of ligand and cell surface binding of insulin-like growth factor-binding protein-3". J. Biol. Chem. 273 (5): 2631–8. doi:10.1074/jbc.273.5.2631. PMID 9446566.
Further reading
- Domené HM, Bengolea SV, Jasper HG, Boisclair YR (2005). "Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse.". J. Endocrinol. Invest. 28 (5 Suppl): 43–6. PMID 16114275.
- Leong SR, Baxter RC, Camerato T, Dai J, Wood WI (1992). "Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex". Mol. Endocrinol. 6 (6): 870–6. doi:10.1210/mend.6.6.1379671. PMID 1379671. S2CID 7911883.
- Dai J, Baxter RC (1992). "Molecular cloning of the acid-labile subunit of the rat insulin-like growth factor binding protein complex". Biochem. Biophys. Res. Commun. 188 (1): 304–9. doi:10.1016/0006-291X(92)92385-B. PMID 1384485.
- Baxter RC, Martin JL, Beniac VA (1989). "High molecular weight insulin-like growth factor binding protein complex. Purification and properties of the acid-labile subunit from human serum". J. Biol. Chem. 264 (20): 11843–8. doi:10.1016/S0021-9258(18)80143-0. PMID 2473065.
- Firth SM, Ganeshprasad U, Baxter RC (1998). "Structural determinants of ligand and cell surface binding of insulin-like growth factor-binding protein-3". J. Biol. Chem. 273 (5): 2631–8. doi:10.1074/jbc.273.5.2631. PMID 9446566.
- Twigg SM, Baxter RC (1998). "Insulin-like growth factor (IGF)-binding protein 5 forms an alternative ternary complex with IGFs and the acid-labile subunit". J. Biol. Chem. 273 (11): 6074–9. doi:10.1074/jbc.273.11.6074. PMID 9497324.
- Twigg SM, Kiefer MC, Zapf J, Baxter RC (1998). "Insulin-like growth factor-binding protein 5 complexes with the acid-labile subunit. Role of the carboxyl-terminal domain". J. Biol. Chem. 273 (44): 28791–8. doi:10.1074/jbc.273.44.28791. PMID 9786878.
- Suwanichkul A, Boisclair YR, Olney RC, Durham SK, Powell DR (2000). "Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes". Endocrinology. 141 (2): 833–8. doi:10.1210/endo.141.2.7333. PMID 10650966.
- Ueki I, Ooi GT, Tremblay ML, Hurst KR, Bach LA, Boisclair YR (2000). "Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system". Proc. Natl. Acad. Sci. U.S.A. 97 (12): 6868–73. Bibcode:2000PNAS...97.6868U. doi:10.1073/pnas.120172697. PMC 18767. PMID 10823924.
- Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S, Bono H, Okazaki Y, Hayashizaki Y (2001). "Protein-protein interaction panel using mouse full-length cDNAs". Genome Res. 11 (10): 1758–65. doi:10.1101/gr.180101. PMC 311163. PMID 11591653.
- Sneppen SB, Lange M, Pedersen LM, Kristensen L LØ, Main KM, Juul A, Skakkebaek NE, Feldt-Rasmussen U (2002). "Total and free insulin-like growth factor I, insulin-like growth factor binding protein 3 and acid-labile subunit reflect clinical activity in acromegaly". Growth Horm. IGF Res. 11 (6): 384–91. doi:10.1054/ghir.2001.0254. PMID 11914026.
- Cisternino M, Draghi M, Lauriola S, Scarcella D, Bernasconi S, Cavallo L, De Luca F, Lomeo A, Tatò L (2002). "The acid-labile subunit of human ternary insulin-like growth factor-binding protein complex in girls with central precocious puberty before and during gonadotropin-releasing hormone analog therapy". J. Clin. Endocrinol. Metab. 87 (10): 4629–33. doi:10.1210/jc.2002-020308. PMID 12364447.
- Anderson NL, Polanski M, Pieper R, Gatlin T, Tirumalai RS, Conrads TP, Veenstra TD, Adkins JN, Pounds JG, Fagan R, Lobley A (2004). "The human plasma proteome: a nonredundant list developed by combination of four separate sources". Mol. Cell. Proteomics. 3 (4): 311–26. doi:10.1074/mcp.M300127-MCP200. PMID 14718574.
- Domené HM, Bengolea SV, Martínez AS, Ropelato MG, Pennisi P, Scaglia P, Heinrich JJ, Jasper HG (2004). "Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene". N. Engl. J. Med. 350 (6): 570–7. doi:10.1056/NEJMoa013100. PMID 14762184.
- Payet LD, Firth SM, Baxter RC (2004). "The role of the acid-labile subunit in regulating insulin-like growth factor transport across human umbilical vein endothelial cell monolayers". J. Clin. Endocrinol. Metab. 89 (5): 2382–9. doi:10.1210/jc.2003-031880. PMID 15126567.
- Liu T, Qian WJ, Gritsenko MA, Camp DG, Monroe ME, Moore RJ, Smith RD (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
- Deming SL, Ren Z, Wen W, Shu XO, Cai Q, Gao YT, Zheng W (2007). "Genetic variation in IGF1, IGF-1R, IGFALS, and IGFBP3 in breast cancer survival among Chinese women: a report from the Shanghai Breast Cancer Study". Breast Cancer Res. Treat. 104 (3): 309–19. doi:10.1007/s10549-006-9420-8. PMID 17063263. S2CID 31516153.
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