ARSA (arylsulfatase A)

2016-10-01  

Identity

HGNC
LOCATION
22q13.33
LOCUSID
ALIAS
ASA,MLD
FUSION GENES

Other Information

Locus ID:

NCBI: 410
MIM: 607574
HGNC: 713
Ensembl: ENSG00000100299

Variants:

dbSNP: 410
ClinVar: 410
TCGA: ENSG00000100299
COSMIC: ARSA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100299ENST00000216124A0A0C4DFZ2
ENSG00000100299ENST00000356098A0A0C4DFZ2
ENSG00000100299ENST00000395619A0A0C4DFZ2
ENSG00000100299ENST00000395621A0A0C4DFZ2
ENSG00000100299ENST00000453344P15289
ENSG00000100299ENST00000608497V9GYR0

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Sphingolipid metabolismKEGGko00600
Sphingolipid metabolismKEGGhsa00600
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
The activation of arylsulfatasesREACTOMER-HSA-1663150
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
157720922005Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy.36
163112512006Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.25
232098332012The molecular chaperone HSPA2 plays a key role in regulating the expression of sperm surface receptors that mediate sperm-egg recognition.24
219665402011Dopamine receptors in human adipocytes: expression and functions.23
231923582013Pharmacokinetics and brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor.15
264626142016Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.12
178451302007Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy.11
232478132013Investigation of the mechanisms by which the molecular chaperone HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition.11
214546212011Transport of arylsulfatase A across the blood-brain barrier in vitro.9
128882742003Crystal structure of a covalent intermediate of endogenous human arylsulfatase A.8

Citation

Dessen P

ARSA (arylsulfatase A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55976/arsa-(arylsulfatase-a)