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Showing Protein Arylsulfatase A (HMDBP00320)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 13 metabolites
Identification
HMDB Protein ID HMDBP00320
Secondary Accession Numbers
  • 5556
  • HMDBP05168
Name Arylsulfatase A
Synonyms
  1. ASA
  2. Arylsulfatase A component B
  3. Arylsulfatase A component C
  4. Cerebroside-sulfatase
Gene Name ARSA
Protein Type Unknown
Biological Properties
General Function Involved in catalytic activity
Specific Function Hydrolyzes cerebroside sulfate.
Pathways
  • Fabry disease
  • Gaucher Disease
  • Globoid Cell Leukodystrophy
  • Krabbe disease
  • Lysosome
  • Metachromatic Leukodystrophy (MLD)
  • sphingolipid metabolism
  • Starch and sucrose metabolism
Reactions
A cerebroside 3-sulfate + Water → a cerebroside + Oat gum details
Sulfatide + Water → Galactosylceramide + Oat gum details
GO Classification
Biological Process
small molecule metabolic process
phospholipid metabolic process
post-translational protein modification
binding of sperm to zona pellucida
glycosphingolipid metabolic process
Cellular Component
plasma membrane
endoplasmic reticulum lumen
lysosomal lumen
Function
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
sulfuric ester hydrolase activity
Molecular Function
calcium ion binding
arylsulfatase activity
cerebroside-sulfatase activity
Process
metabolic process
Cellular Location
  1. Lysosome
Gene Properties
Chromosome Location 22
Locus 22q13.33
SNPs ARSA
Gene Sequence 
>1524 bp
ATGGGGGCACCGCGGTCCCTCCTCCTGGCCCTGGCTGCTGGCCTGGCCGTTGCCCGTCCG
CCCAACATCGTGCTGATCTTTGCCGACGACCTCGGCTATGGGGACCTGGGCTGCTATGGG
CACCCCAGCTCTACCACTCCCAACCTGGACCAGCTGGCGGCGGGAGGGCTGCGGTTCACA
GACTTCTACGTGCCTGTGTCTCTGTGCACACCCTCTAGGGCCGCCCTCCTGACCGGCCGG
CTCCCGGTTCGGATGGGCATGTACCCTGGCGTCCTGGTGCCCAGCTCCCGGGGGGGCCTG
CCCCTGGAGGAGGTGACCGTGGCCGAAGTCCTGGCTGCCCGAGGCTACCTCACAGGAATG
GCCGGCAAGTGGCACCTTGGGGTGGGGCCTGAGGGGGCCTTCCTGCCCCCCCATCAGGGC
TTCCATCGATTTCTAGGCATCCCGTACTCCCACGACCAGGGCCCCTGCCAGAACCTGACC
TGCTTCCCGCCGGCCACTCCTTGCGACGGTGGCTGTGACCAGGGCCTGGTCCCCATCCCA
CTGTTGGCCAACCTGTCCGTGGAGGCGCAGCCCCCCTGGCTGCCCGGACTAGAGGCCCGC
TACATGGCTTTCGCCCATGACCTCATGGCCGACGCCCAGCGCCAGGATCGCCCCTTCTTC
CTGTACTATGCCTCTCACCACACCCACTACCCTCAGTTCAGTGGGCAGAGCTTTGCAGAG
CGTTCAGGCCGCGGGCCATTTGGGGACTCCCTGATGGAGCTGGATGCAGCTGTGGGGACC
CTGATGACAGCCATAGGGGACCTGGGGCTGCTTGAAGAGACGCTGGTCATCTTCACTGCA
GACAATGGACCTGAGACCATGCGTATGTCCCGAGGCGGCTGCTCCGGTCTCTTGCGGTGT
GGAAAGGGAACGACCTACGAGGGCGGTGTCCGAGAGCCTGCCTTGGCCTTCTGGCCAGGT
CATATCGCTCCCGGCGTGACCCACGAGCTGGCCAGCTCCCTGGACCTGCTGCCTACCCTG
GCAGCCCTGGCTGGGGCCCCACTGCCCAATGTCACCTTGGATGGCTTTGACCTCAGCCCC
CTGCTGCTGGGCACAGGCAAGAGCCCTCGGCAGTCTCTCTTCTTCTACCCGTCCTACCCA
GACGAGGTCCGTGGGGTTTTTGCTGTGCGGACTGGAAAGTACAAGGCTCACTTCTTCACC
CAGGGCTCTGCCCACAGTGATACCACTGCAGACCCTGCCTGCCACGCCTCCAGCTCTCTG
ACTGCTCATGAGCCCCCGCTGCTCTATGACCTGTCCAAGGACCCTGGTGAGAACTACAAC
CTGCTGGGGGGTGTGGCCGGGGCCACCCCAGAGGTGCTGCAAGCCCTGAAACAGCTTCAG
CTGCTCAAGGCCCAGTTAGACGCAGCTGTGACCTTCGGCCCCAGCCAGGTGGCCCGGGGC
GAGGACCCCGCCCTGCAGATCTGCTGTCATCCTGGCTGCACCCCCCGCCCAGCTTGCTGC
CATTGCCCAGATCCCCATGCCTGA
Protein Properties
Number of Residues 507
Molecular Weight 53805.87
Theoretical pI 6.07
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence 
>Arylsulfatase A
MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFT
DFYVPVSLCTPSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGM
AGKWHLGVGPEGAFLPPHQGFHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIP
LLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYASHHTHYPQFSGQSFAE
RSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRC
GKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSP
LLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSL
TAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARG
EDPALQICCHPGCTPRPACCHCPDPHA
GenBank ID Protein 28858
UniProtKB/Swiss-Prot ID P15289
UniProtKB/Swiss-Prot Entry Name ARSA_HUMAN
PDB IDs
GenBank Gene ID X52151
GeneCard ID ARSA
GenAtlas ID ARSA
HGNC ID HGNC:713
References
General References
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  6. Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K: Cloning and expression of human arylsulfatase A. J Biol Chem. 1989 Jan 15;264(2):1252-9. [PubMed:2562955 ]
  7. Kreysing J, von Figura K, Gieselmann V: Structure of the arylsulfatase A gene. Eur J Biochem. 1990 Aug 17;191(3):627-31. [PubMed:1975241 ]
  8. Fujii T, Kobayashi T, Honke K, Gasa S, Ishikawa M, Shimizu T, Makita A: Proteolytic processing of human lysosomal arylsulfatase A. Biochim Biophys Acta. 1992 Jul 13;1122(1):93-8. [PubMed:1352993 ]
  9. Schmidt B, Selmer T, Ingendoh A, von Figura K: A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell. 1995 Jul 28;82(2):271-8. [PubMed:7628016 ]
  10. Lukatela G, Krauss N, Theis K, Selmer T, Gieselmann V, von Figura K, Saenger W: Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis. Biochemistry. 1998 Mar 17;37(11):3654-64. [PubMed:9521684 ]
  11. von Bulow R, Schmidt B, Dierks T, von Figura K, Uson I: Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. J Mol Biol. 2001 Jan 12;305(2):269-77. [PubMed:11124905 ]
  12. Chruszcz M, Laidler P, Monkiewicz M, Ortlund E, Lebioda L, Lewinski K: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A. J Inorg Biochem. 2003 Aug 1;96(2-3):386-92. [PubMed:12888274 ]
  13. Roeser D, Preusser-Kunze A, Schmidt B, Gasow K, Wittmann JG, Dierks T, von Figura K, Rudolph MG: A general binding mechanism for all human sulfatases by the formylglycine-generating enzyme. Proc Natl Acad Sci U S A. 2006 Jan 3;103(1):81-6. Epub 2005 Dec 20. [PubMed:16368756 ]
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  16. Kondo R, Wakamatsu N, Yoshino H, Fukuhara N, Miyatake T, Tsuji S: Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. Am J Hum Genet. 1991 May;48(5):971-8. [PubMed:1673291 ]
  17. Gieselmann V, Fluharty AL, Tonnesen T, Von Figura K: Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. Am J Hum Genet. 1991 Aug;49(2):407-13. [PubMed:1678251 ]
  18. Polten A, Fluharty AL, Fluharty CB, Kappler J, von Figura K, Gieselmann V: Molecular basis of different forms of metachromatic leukodystrophy. N Engl J Med. 1991 Jan 3;324(1):18-22. [PubMed:1670590 ]
  19. Kappler J, von Figura K, Gieselmann V: Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. Ann Neurol. 1992 Mar;31(3):256-61. [PubMed:1353340 ]
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  27. Heinisch U, Zlotogora J, Kafert S, Gieselmann V: Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area. Am J Hum Genet. 1995 Jan;56(1):51-7. [PubMed:7825603 ]
  28. Kafert S, Heinisch U, Zlotogora J, Gieselmann V: A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. Hum Genet. 1995 Feb;95(2):201-4. [PubMed:7860068 ]
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  36. Ricketts MH, Poretz RD, Manowitz P: The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. Hum Mutat. 1998;12(4):238-9. [PubMed:9744473 ]
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  45. Felice KJ, Gomez Lira M, Natowicz M, Grunnet ML, Tsongalis GJ, Sima AA, Kaplan RF: Adult-onset MLD: a gene mutation with isolated polyneuropathy. Neurology. 2000 Oct 10;55(7):1036-9. [PubMed:11061266 ]
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  48. Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M: Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity. Hum Genet. 2002 Apr;110(4):351-5. Epub 2002 Mar 8. [PubMed:11941485 ]
  49. Marcao A, Simonis H, Schestag F, Sa Miranda MC, Gieselmann V: Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations. Am J Med Genet A. 2003 Jan 30;116A(3):238-42. [PubMed:12503099 ]
  50. Marcao A, Azevedo JE, Gieselmann V, Sa Miranda MC: Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. Biochem Biophys Res Commun. 2003 Jun 20;306(1):293-7. [PubMed:12788103 ]
  51. Eng B, Nakamura LN, O'Reilly N, Schokman N, Nowaczyk MM, Krivit W, Waye JS: Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD). Hum Mutat. 2003 Nov;22(5):418-9. [PubMed:14517960 ]
  52. Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S: Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy. Mol Genet Metab. 2003 Nov;80(3):360-3. [PubMed:14680985 ]
  53. Berna L, Gieselmann V, Poupetova H, Hrebicek M, Elleder M, Ledvinova J: Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. Am J Med Genet A. 2004 Sep 1;129A(3):277-81. [PubMed:15326627 ]
  54. Gallo S, Randi D, Bertelli M, Salviati A, Pandolfo M: Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. J Neurol Neurosurg Psychiatry. 2004 Apr;75(4):655-7. [PubMed:15026521 ]
  55. Marcao AM, Wiest R, Schindler K, Wiesmann U, Weis J, Schroth G, Miranda MC, Sturzenegger M, Gieselmann V: Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. Arch Neurol. 2005 Feb;62(2):309-13. [PubMed:15710861 ]
  56. Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M: Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. Hum Mutat. 2008 Nov;29(11):E220-30. doi: 10.1002/humu.20851. [PubMed:18693274 ]