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 anterior pituitary minor salivary glands right lobe of thyroid gland left lobe of thyroid gland right lobe of liver body of pancreas body of stomach left coronary artery ascending aorta Top expressed in spermatocyte spermatid seminiferous tubule medial dorsal nucleus left lobe of liver calvaria motor neuron brown adipose tissue lateral geniculate nucleus medial 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
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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

Further reading

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.

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This page was last edited on 15 January 2024, at 00:03