InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ARSA

Summary

InnateDB Gene

IDBG-14144.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ARSA

Gene Name

arylsulfatase A

Synonyms

MLD

Species

Homo sapiens

Ensembl Gene

ENSG00000100299

Encoded Proteins

IDBP-14146

arylsulfatase A

IDBP-14148

arylsulfatase A

IDBP-239184

arylsulfatase A

IDBP-239186

arylsulfatase A

IDBP-381600

arylsulfatase A

IDBP-808894

arylsulfatase A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 22:50622754-50628173

Strand

Reverse strand

Band

q13.33

Transcripts

ENST00000356098	ENSP00000348406
ENST00000216124	ENSP00000216124
ENST00000395621	ENSP00000378983
ENST00000395619	ENSP00000378981
ENST00000453344	ENSP00000412542
ENST00000551731
ENST00000610191
ENST00000608497	ENSP00000477013

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003824	catalytic activity
GO:0004065	arylsulfatase activity
GO:0004098	cerebroside-sulfatase activity
GO:0005509	calcium ion binding
GO:0008484	sulfuric ester hydrolase activity

Biological Process

GO:0006665	sphingolipid metabolic process
GO:0006687	glycosphingolipid metabolic process
GO:0006914	autophagy
GO:0007339	binding of sperm to zona pellucida
GO:0007417	central nervous system development
GO:0007584	response to nutrient
GO:0008152	metabolic process
GO:0009268	response to pH
GO:0043627	response to estrogen
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0044281	small molecule metabolic process
GO:0045471	response to ethanol
GO:0051597	response to methylmercury

Cellular Component

GO:0001669	acrosomal vesicle
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005768	endosome
GO:0005788	endoplasmic reticulum lumen
GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0031232	extrinsic component of external side of plasma membrane
GO:0043202	lysosomal lumen
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000022620

View Gene Order

ENSBTAG00000016053

Not yet available

Pathways

NETPATH

REACTOME

REACT_121036

The activation of arylsulfatases pathway

REACT_116105

Glycosphingolipid metabolism pathway

REACT_19323

Sphingolipid metabolism pathway

REACT_22258

Metabolism of lipids and lipoproteins pathway

REACT_22161

Post-translational protein modification pathway

REACT_1069

PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway

REACT_17015

Metabolism of proteins pathway

REACT_111217

Metabolism pathway

KEGG

hsa00600

Sphingolipid metabolism pathway

hsa04142

Lysosome pathway

INOH

PID NCI

Cross-References

SwissProt

P15289

TrEMBL

UniProt Splice Variant

Entrez Gene

410

UniGene

Hs.88251

RefSeq

NM_000487 NM_001085425 NM_001085426 NM_001085427 NM_001085428

HUGO

HGNC:713

OMIM

607574

CCDS

CCDS14100 CCDS46736

HPRD

IMGT

EMBL

AB448736 AK098659 AK315011 AY271820 BC014210 CR456383 U62317 X52150 X52151

GenPept

AAB03341 AAH14210 AAP03431 BAG37503 BAH11167 CAA36398 CAA36399 CAG30269

RNA Seq Atlas

410