Arylsulfatase A

ARSA
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2HI8, 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK
Identifiers
Aliases	ARSA , MLD, arylsulfatase A, ASA
External IDs	OMIM: 607574; MGI: 88077; HomoloGene: 20138; GeneCards: ARSA; OMA:ARSA - orthologs
Gene location (Human) Chr. Chromosome 22 (human) [1] Band 22q13.33 Start 50,622,754 bp [1] End 50,628,173 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15|15 E3 Start 89,356,679 bp [2] End 89,361,628 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube right testis granulocyte mucosa of transverse colon left testis apex of heart anterior pituitary minor salivary glands right lobe of thyroid gland right hemisphere of cerebellum Top expressed in spermatocyte spermatid seminiferous tubule decidua medial dorsal nucleus left lobe of liver calvaria motor neuron brown adipose tissue lateral geniculate nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding cerebroside-sulfatase activity sulfuric ester hydrolase activity protein binding hydrolase activity catalytic activity metal ion binding arylsulfatase activity Cellular component lysosome lysosomal lumen extracellular exosome endoplasmic reticulum lumen extracellular region azurophil granule lumen endoplasmic reticulum Biological process post-translational protein modification metabolism glycosphingolipid metabolic process neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 410 11883 Ensembl ENSG00000100299 ENSMUSG00000022620 UniProt P15289 P50428 RefSeq (mRNA) NM_000487 NM_001085425 NM_001085426 NM_001085427 NM_001085428 NM_001362782 NM_009713 RefSeq (protein) NP_000478 NP_001078894 NP_001078895 NP_001078896 NP_001078897 NP_001349711 NP_033843 Location (UCSC) Chr 22: 50.62 – 50.63 Mb Chr 15: 89.36 – 89.36 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down sulfatides, namely cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene. ^{[5] [6]}

Clinical significance

A deficiency in Arylsulfatase A is associated with metachromatic leukodystrophy, an autosomal recessive disease. ^[7] Multiple sulfatase deficiency (MSD) is also associated with the ARSA gene. ^[8]

Biochemistry

Enzyme regulation

Arylsulfatase A is inhibited by phosphate, which forms a covalent bond with the active site 3-oxoalanine. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000100299 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022620 – 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. Stein C, Gieselmann V, Kreysing J, Schmidt B, Pohlmann R, Waheed A, Meyer HE, O'Brien JS, von Figura K (January 1989). "Cloning and expression of human arylsulfatase A". J. Biol. Chem. 264 (2): 1252–9. doi: 10.1016/S0021-9258(19)85079-2 . PMID   2562955.
6. Matzner U, Herbst E, Hedayati KK, Lüllmann-Rauch R, Wessig C, Schröder S, Eistrup C, Möller C, Fogh J, Gieselmann V (May 2005). "Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy". Hum. Mol. Genet. 14 (9): 1139–52. doi: 10.1093/hmg/ddi126 . PMID   15772092.
7. Sevin C, Aubourg P, Cartier N (April 2007). "Enzyme, cell and gene-based therapies for metachromatic leukodystrophy". J. Inherit. Metab. Dis. 30 (2): 175–83. doi:10.1007/s10545-007-0540-z. PMID   17347913. S2CID   25848916.
8. "UniProt". www.uniprot.org. Retrieved 2023-10-31.
9. "Arylsulfatase A / ARSA". Sino Biological. Retrieved 12 September 2014.

Further reading

• Narahara K, Takahashi Y, Murakami M, et al. (1992). "Terminal 22q deletion associated with a partial deficiency of arylsulphatase A". J. Med. Genet. 29 (6): 432–3. doi:10.1136/jmg.29.6.432. PMC   1016000 . PMID   1352356.
• Gieselmann V, Zlotogora J, Harris A, et al. (1995). "Molecular genetics of metachromatic leukodystrophy". Hum. Mutat. 4 (4): 233–42. doi: 10.1002/humu.1380040402 . PMID   7866401. S2CID   23519007.
• DeLuca C, Brown JA, Shows TB (1979). "Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B". Proc. Natl. Acad. Sci. U.S.A. 76 (4): 1957–61. Bibcode:1979PNAS...76.1957D. doi: 10.1073/pnas.76.4.1957 . PMC   383512 . PMID   36611.
• Fujii T, Kobayashi T, Honke K, et al. (1992). "Proteolytic processing of human lysosomal arylsulfatase A". Biochim. Biophys. Acta. 1122 (1): 93–8. doi:10.1016/0167-4838(92)90132-W. PMID   1352993.
• Kappler J, von Figura K, Gieselmann V (1992). "Late-onset metachromatic leukodystrophy: molecular pathology in two siblings". Ann. Neurol. 31 (3): 256–61. doi:10.1002/ana.410310305. PMID   1353340. S2CID   5481565.
• Li ZG, Waye JS, Chang PL (1992). "Diagnosis of arylsulfatase A deficiency". Am. J. Med. Genet. 43 (6): 976–82. doi:10.1002/ajmg.1320430614. PMID   1357970.
• Polten A, Fluharty AL, Fluharty CB, et al. (1991). "Molecular basis of different forms of metachromatic leukodystrophy". N. Engl. J. Med. 324 (1): 18–22. doi: 10.1056/NEJM199101033240104 . PMID   1670590.
• Kondo R, Wakamatsu N, Yoshino H, et al. (1991). "Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy". Am. J. Hum. Genet. 48 (5): 971–8. PMC   1683039 . PMID   1673291.
• Nelson PV, Carey WF, Morris CP (1991). "Population frequency of the arylsulphatase A pseudo-deficiency allele". Hum. Genet. 87 (1): 87–8. doi:10.1007/BF01213099. PMID   1674719. S2CID   12287382.
• Bohne W, von Figura K, Gieselmann V (1991). "An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy". Hum. Genet. 87 (2): 155–8. doi:10.1007/BF00204172. PMID   1676699. S2CID   21529779.
• Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K (1991). "Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy". Am. J. Hum. Genet. 49 (2): 407–13. PMC   1683316 . PMID   1678251.
• Fluharty AL, Fluharty CB, Bohne W, et al. (1992). "Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient". Am. J. Hum. Genet. 49 (6): 1340–50. PMC   1686463 . PMID   1684088.
• Kreysing J, von Figura K, Gieselmann V (1990). "Structure of the arylsulfatase A gene". Eur. J. Biochem. 191 (3): 627–31. doi:10.1111/j.1432-1033.1990.tb19167.x. PMID   1975241.
• Gieselmann V, Polten A, Kreysing J, von Figura K (1990). "Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site". Proc. Natl. Acad. Sci. U.S.A. 86 (23): 9436–40. doi: 10.1073/pnas.86.23.9436 . PMC   298511 . PMID   2574462.
• Geurts van Kessel AH (1981). "Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22". Cytogenet. Cell Genet. 28 (3): 169–72. doi:10.1159/000131527. PMID   7192199.
• Barth ML, Fensom A, Harris A (1995). "Identification of seven novel mutations associated with metachromatic leukodystrophy". Hum. Mutat. 6 (2): 170–6. doi: 10.1002/humu.1380060210 . PMID   7581401. S2CID   27966734.
• Schmidt B, Selmer T, Ingendoh A, von Figura K (1995). "A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency". Cell. 82 (2): 271–8. doi: 10.1016/0092-8674(95)90314-3 . PMID   7628016.
• Barth ML, Ward C, Harris A, et al. (1995). "Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population". J. Med. Genet. 31 (9): 667–71. doi:10.1136/jmg.31.9.667. PMC   1050073 . PMID   7815433.

External links

• GeneReviews/NCBI/NIH/UW entry on Arylsulfatase A Deficiency - Metachromatic Leukodystrophy
• OMIM entries on ARSA Deficiency
• Arylsulfatase+A at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human ARSA genome location and ARSA gene details page in the UCSC Genome Browser .
• Overview of all the structural information available in the PDB for UniProt : P15289 (Human Arylsulfatase A) at the PDBe-KB .