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Arylsulfatase A

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(Redirected from ARSA (gene)) Mammalian protein found in Homo sapiens
ARSA
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2HI8, 1AUK, 1E1Z, 1E2S, 1E33, 1E3C, 1N2K, 1N2L, 2AIJ, 2AIK

Identifiers
AliasesARSA, MLD, arylsulfatase A, ASA
External IDsOMIM: 607574; MGI: 88077; HomoloGene: 20138; GeneCards: ARSA; OMA:ARSA - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)
Chromosome 22 (human)Genomic location for ARSAGenomic location for ARSA
Band22q13.33Start50,622,754 bp
End50,628,173 bp
Gene location (Mouse)
Chromosome 15 (mouse)
Chr.Chromosome 15 (mouse)
Chromosome 15 (mouse)Genomic location for ARSAGenomic location for ARSA
Band15|15 E3Start89,356,679 bp
End89,361,628 bp
RNA expression pattern
Bgee
HumanMouse (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
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr 15: 89.36 – 89.36 Mb
PubMed search
Wikidata
View/Edit HumanView/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.

Clinical significance

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

Biochemistry

Enzyme regulation

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

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000100299Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000022620Ensembl, 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

External links

PDB gallery
  • 1auk: HUMAN ARYLSULFATASE A 1auk: HUMAN ARYLSULFATASE A
  • 1e1z: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69S 1e1z: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69S
  • 1e2s: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69A 1e2s: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69A
  • 1e33: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT P426L 1e33: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT P426L
  • 1e3c: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69S SOAKED IN SYNTHETIC SUBSTRATE 1e3c: CRYSTAL STRUCTURE OF AN ARYLSULFATASE A MUTANT C69S SOAKED IN SYNTHETIC SUBSTRATE
  • 1n2k: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A 1n2k: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A
  • 1n2l: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A 1n2l: Crystal structure of a covalent intermediate of endogenous human arylsulfatase A
Hydrolase: esterases (EC 3.1)
3.1.1: Carboxylic
ester hydrolases
3.1.2: Thioesterase
3.1.3: Phosphatase
3.1.4:
Phosphodiesterase
3.1.6: Sulfatase
Nuclease (includes
deoxyribonuclease
and ribonuclease)
3.1.11-16:
Exonuclease
Exodeoxyribonuclease
Exoribonuclease
3.1.21-31:
Endonuclease
Endodeoxyribonuclease
Endoribonuclease
either deoxy- or ribo-    
Metabolism, lipid metabolism, glycolipid enzymes
Sphingolipid
To glycosphingolipid
To ceramide
From ganglioside
Beta-galactosidase
Hexosaminidase A
Neuraminidase
Glucocerebrosidase
From globoside
Hexosaminidase B
Alpha-galactosidase
Beta-galactosidase
Glucocerebrosidase
From sphingomyelin
Sphingomyelin phosphodiesterase
Sphingomyelin phosphodiesterase 1
From sulfatide
Arylsulfatase A
Galactosylceramidase
To sphingosine
Other
NCL
Ceramide synthesis


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