ARSA (arylsulfatase A)

2016-10-01  

Identity

HGNC
ARSA
LOCATION
22q13.33
LOCUSID
410
ALIAS
ASA,MLD
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotationassociatedPD29382897
PA450464methylphenidateChemicalClinicalAnnotationassociatedPD29382897

References

Pubmed IDYearTitleCitations
373817282023Association of Rare Variants in ARSA with Parkinson's Disease.0
381535812023Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.0
373817282023Association of Rare Variants in ARSA with Parkinson's Disease.0
381535812023Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy.0
345310442022Evaluating the role of ARSA in Chinese patients with Parkinson's disease.6
345543972022Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.1
345310442022Evaluating the role of ARSA in Chinese patients with Parkinson's disease.6
345543972022Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.1
326178732021Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.2
333859342021Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.0
334986242021Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).6
326178732021Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.2
333859342021Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.0
334986242021Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).6
319225872020[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].0

Citation

Dessen P

ARSA (arylsulfatase A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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