ARSA (arylsulfatase A)

2016-10-01

Identity

HGNC

ARSA

LOCATION

22q13.33

LOCUSID

410

ALIAS

ASA,MLD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100299	ENST00000216124	A0A0C4DFZ2
ENSG00000100299	ENST00000356098	A0A0C4DFZ2
ENSG00000100299	ENST00000395619	A0A0C4DFZ2
ENSG00000100299	ENST00000395621	A0A0C4DFZ2
ENSG00000100299	ENST00000453344	P15289
ENSG00000100299	ENST00000608497	V9GYR0

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Expression (GTEx)

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

Pathway	Source	External ID
Gamma carboxylation, hypusine formation and arylsulfatase activation	REACTOME	R-HSA-163841
Glycosphingolipid metabolism	REACTOME	R-HSA-1660662
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Metabolism of proteins	REACTOME	R-HSA-392499
Neutrophil degranulation	REACTOME	R-HSA-6798695

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Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA447197	Attention Deficit Disorder with Hyperactivity	Disease	ClinicalAnnotation	associated		PD	29382897
PA450464	methylphenidate	Chemical	ClinicalAnnotation	associated		PD	29382897

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References

Pubmed ID	Year	Title	Citations
31922587	2020	[Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy].	0
32617873	2021	Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.	2
32617873	2021	Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene.	2
33385934	2021	Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.	0
33385934	2021	Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity.	0
33498624	2021	Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).	6
33498624	2021	Arylsulfatase A Remodeling during Human Sperm In Vitro Capacitation Using Field Emission Scanning Electron Microscopy (FE-SEM).	6
34531044	2022	Evaluating the role of ARSA in Chinese patients with Parkinson's disease.	6
34531044	2022	Evaluating the role of ARSA in Chinese patients with Parkinson's disease.	6
34554397	2022	Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.	1

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Citation

Dessen P

ARSA (arylsulfatase A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

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