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
Functions
insulin-like growth factor binding
Processes
cell adhesion / cellular protein metabolic process / signal transduction
Components
extracellular 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
ResourceLink
UniProtKB IDP35858
UniProtKB Entry NameALS_HUMAN
HGNC IDHGNC:5468
General References
  1. 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. [PubMed:1379671]
  2. 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. [PubMed:10650966]
  3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed:14702039]
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  5. 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. [PubMed:2473065]
  6. 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. [PubMed:14762184]
  7. 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. [PubMed:16335952]
  8. 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. [PubMed:16507628]
  9. 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. [PubMed:17726072]
  10. 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. [PubMed:18303074]
  11. 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. [PubMed:19129715]
  12. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218]
  13. 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. [PubMed:20389102]
  14. Domene HM, Hwa V, Jasper HG, Rosenfeld RG: Acid-labile subunit (ALS) deficiency. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):101-13. doi: 10.1016/j.beem.2010.08.010. [PubMed:21396577]
  15. Hess O, Khayat M, Hwa V, Heath KE, Teitler A, Hritan Y, Allon-Shalev S, Tenenbaum-Rakover Y: A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). Clin Endocrinol (Oxf). 2013 Dec;79(6):838-44. doi: 10.1111/cen.12200. Epub 2013 Apr 13. [PubMed:23488611]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB09130Copperapproved, investigationalunknownDetails
DB01593Zincapproved, investigationalunknownDetails
DB14487Zinc acetateapproved, investigationalunknownDetails
DB14533Zinc chlorideapproved, investigationalunknownDetails
DB01277Mecaserminapproved, investigationalunknowncarrierDetails