Insulin-like growth factor-binding protein complex acid labile subunit
Details
- Name
- Insulin-like growth factor-binding protein complex acid labile subunit
- Synonyms
- ALS
- Gene Name
- IGFALS
- Organism
- Humans
- Amino acid sequence
>lcl|BSEQ0049828|Insulin-like growth factor-binding protein complex acid labile subunit MALRKGGLALALLLLSWVALGPRSLEGADPGTPGEAEGPACPAACVCSYDDDADELSVFC SSRNLTRLPDGVPGGTQALWLDGNNLSSVPPAAFQNLSSLGFLNLQGGQLGSLEPQALLG LENLCHLHLERNQLRSLALGTFAHTPALASLGLSNNRLSRLEDGLFEGLGSLWDLNLGWN SLAVLPDAAFRGLGSLRELVLAGNRLAYLQPALFSGLAELRELDLSRNALRAIKANVFVQ LPRLQKLYLDRNLIAAVAPGAFLGLKALRWLDLSHNRVAGLLEDTFPGLLGLRVLRLSHN AIASLRPRTFKDLHFLEELQLGHNRIRQLAERSFEGLGQLEVLTLDHNQLQEVKAGAFLG LTNVAVMNLSGNCLRNLPEQVFRGLGKLHSLHLEGSCLGRIRPHTFTGLSGLRRLFLKDN GLVGIEEQSLWGLAELLELDLTSNQLTHLPHRLFQGLGKLEYLLLSRNRLAELPADALGP LQRAFWLDVSHNRLEALPNSLLAPLGRLRYLSLRNNSLRTFTPQPPGLERLWLEGNPWDC GCPLKALRDFALQNPSAVPRFVQAICEGDDCQPPAYTYNNITCASPPEVVGLDLRDLSEA HFAPC
- Number of residues
- 605
- Molecular Weight
- 66034.13
- Theoretical pI
- Not Available
- GO Classification
- Functionsinsulin-like growth factor bindingProcessescell adhesion / cellular protein metabolic process / signal transductionComponentsextracellular exosome / extracellular region / extracellular space / insulin-like growth factor ternary complex / nucleoplasm
- General Function
- Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion.
- Specific Function
- Insulin-like growth factor binding
- Pfam Domain Function
- Transmembrane Regions
- Not Available
- Cellular Location
- Secreted
- Gene sequence
>lcl|BSEQ0049829|Insulin-like growth factor-binding protein complex acid labile subunit (IGFALS) ATGGCCCTGAGGAAAGGAGGCCTGGCCCTGGCGCTGCTGCTGCTGTCCTGGGTGGCACTG GGCCCCCGCAGCCTGGAGGGAGCAGACCCCGGAACGCCGGGGGAAGCCGAGGGCCCAGCG TGCCCGGCCGCCTGTGTCTGCAGCTACGATGACGACGCGGATGAGCTCAGCGTCTTCTGC AGCTCCAGGAACCTCACGCGCCTGCCTGATGGAGTCCCGGGCGGCACCCAAGCCCTGTGG CTGGACGGCAACAACCTCTCGTCCGTCCCCCCGGCAGCCTTCCAGAACCTCTCCAGCCTG GGCTTCCTCAACCTGCAGGGCGGCCAGCTGGGCAGCCTGGAGCCACAGGCGCTGCTGGGC CTAGAGAACCTGTGCCACCTGCACCTGGAGCGGAACCAGCTGCGCAGCCTGGCACTCGGC ACGTTTGCACACACGCCCGCGCTGGCCTCGCTCGGCCTCAGCAACAACCGTCTGAGCAGG CTGGAGGACGGGCTCTTCGAGGGCCTCGGCAGCCTCTGGGACCTCAACCTCGGCTGGAAT AGCCTGGCGGTGCTCCCCGATGCGGCGTTCCGCGGCCTGGGCAGCCTGCGCGAGCTGGTG CTGGCGGGCAACAGGCTGGCCTACCTGCAGCCCGCGCTCTTCAGCGGCCTGGCCGAGCTC CGGGAGCTGGACCTGAGCAGGAACGCGCTGCGGGCCATCAAGGCAAACGTGTTCGTGCAG CTGCCCCGGCTCCAGAAACTCTACCTGGACCGCAACCTCATCGCTGCCGTGGCCCCGGGC GCCTTCCTGGGCCTGAAGGCGCTGCGATGGCTGGACCTGTCCCACAACCGCGTGGCTGGC CTCCTGGAGGACACGTTCCCCGGTCTGCTGGGCCTGCGTGTGCTGCGGCTGTCCCACAAC GCCATCGCCAGCCTGCGGCCCCGCACCTTCAAGGACCTGCACTTCCTGGAGGAGCTGCAG CTGGGCCACAACCGCATCCGGCAGCTGGCTGAGCGCAGCTTTGAGGGCCTGGGGCAGCTT GAGGTGCTCACGCTAGACCACAACCAGCTCCAGGAGGTCAAGGCGGGCGCTTTCCTCGGC CTCACCAACGTGGCGGTCATGAACCTCTCTGGGAACTGTCTCCGGAACCTTCCGGAGCAG GTGTTCCGGGGCCTGGGCAAGCTGCACAGCCTGCACCTGGAGGGCAGCTGCCTGGGACGC ATCCGCCCGCACACCTTCACCGGCCTCTCGGGGCTCCGCCGACTCTTCCTCAAGGACAAC GGCCTCGTGGGCATTGAGGAGCAGAGCCTGTGGGGGCTGGCGGAGCTGCTGGAGCTCGAC CTGACCTCCAACCAGCTCACGCACCTGCCCCACCGCCTCTTCCAGGGCCTGGGCAAGCTG GAGTACCTGCTGCTCTCCCGCAACCGCCTGGCAGAGCTGCCGGCGGACGCCCTGGGCCCC CTGCAGCGGGCCTTCTGGCTGGACGTCTCGCACAACCGCCTGGAGGCATTGCCCAACAGC CTCTTGGCACCACTGGGGCGGCTGCGCTACCTCAGCCTCAGGAACAACTCACTGCGGACC TTCACGCCGCAGCCCCCGGGCCTGGAGCGCCTGTGGCTGGAGGGTAACCCCTGGGACTGT GGCTGCCCTCTCAAGGCGCTGCGGGACTTCGCCCTGCAGAACCCCAGTGCTGTGCCCCGC TTCGTCCAGGCCATCTGTGAGGGGGACGATTGCCAGCCGCCCGCGTACACCTACAACAAC ATCACCTGTGCCAGCCCGCCCGAGGTCGTGGGGCTCGACCTGCGGGACCTCAGCGAGGCC CACTTTGCTCCCTGCTGA
- Chromosome Location
- 16
- Locus
- 16p13.3
- External Identifiers
Resource Link UniProtKB ID P35858 UniProtKB Entry Name ALS_HUMAN HGNC ID HGNC:5468 - General References
- Leong SR, Baxter RC, Camerato T, Dai J, Wood WI: Structure and functional expression of the acid-labile subunit of the insulin-like growth factor-binding protein complex. Mol Endocrinol. 1992 Jun;6(6):870-6. [Article]
- Suwanichkul A, Boisclair YR, Olney RC, Durham SK, Powell DR: Conservation of a growth hormone-responsive promoter element in the human and mouse acid-labile subunit genes. Endocrinology. 2000 Feb;141(2):833-8. [Article]
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- Baxter RC, Martin JL, Beniac VA: High molecular weight insulin-like growth factor binding protein complex. Purification and properties of the acid-labile subunit from human serum. J Biol Chem. 1989 Jul 15;264(20):11843-8. [Article]
- Domene HM, Bengolea SV, Martinez AS, Ropelato MG, Pennisi P, Scaglia P, Heinrich JJ, Jasper HG: Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene. N Engl J Med. 2004 Feb 5;350(6):570-7. [Article]
- Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [Article]
- Hwa V, Haeusler G, Pratt KL, Little BM, Frisch H, Koller D, Rosenfeld RG: Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure. J Clin Endocrinol Metab. 2006 May;91(5):1826-31. Epub 2006 Feb 28. [Article]
- Domene HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarras P, Gutierrez M, Jasper HG: Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. J Clin Endocrinol Metab. 2007 Nov;92(11):4444-50. Epub 2007 Aug 28. [Article]
- Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A: Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. J Clin Endocrinol Metab. 2008 May;93(5):1616-24. doi: 10.1210/jc.2007-2678. Epub 2008 Feb 26. [Article]
- Fofanova-Gambetti OV, Hwa V, Kirsch S, Pihoker C, Chiu HK, Hogler W, Cohen LE, Jacobsen C, Derr MA, Rosenfeld RG: Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Horm Res. 2009;71(2):100-10. doi: 10.1159/000183899. Epub 2009 Jan 8. [Article]
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- David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJ, Camacho-Hubner C: Acid-labile subunit deficiency and growth failure: description of two novel cases. Horm Res Paediatr. 2010;73(5):328-34. doi: 10.1159/000308164. Epub 2010 Apr 14. [Article]
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Drug Relations
- Drug Relations
DrugBank ID Name Drug group Pharmacological action? Actions Details DB09130 Copper approved, investigational unknown Details DB01593 Zinc approved, investigational unknown Details DB14487 Zinc acetate approved, investigational unknown Details DB14533 Zinc chloride approved, investigational unknown inducer Details DB01277 Mecasermin approved, investigational unknown carrier Details DB14548 Zinc sulfate, unspecified form approved, experimental unknown inducer Details