• Gene id: 410

Gene Summary

• Gene Symbol: ARSA   Gene   UCSC   Ensembl
• Aliases: MLD
• Gene name: arylsulfatase A
• Alternate names: arylsulfatase A, ASA, cerebroside-sulfatase,
• Gene location: 22q13.33 (50628172: 50622753)     Exons: 9     NC_000022.11
• Gene summary(Entrez): 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 ultima
• OMIM: 607574

Protein Summary

• Protein general information: P15289  
  • Name: Arylsulfatase A (ASA) (EC 3.1.6.8) (Cerebroside sulfatase) [Cleaved into: Arylsulfatase A component B; Arylsulfatase A component C]
  • Length: 507  
  • Mass: 53,588
• Sequence:

  MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCTPSRAA
  LLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQGFHRFLGIPYS
  HDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMADAQRQDRPFFLYYAS
  HHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTADNGPETMRMSRGGCSGLLRC
  GKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPNVTLDGFDLSPLLLGTGKSPRQSLFF
  YPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSLTAHEPPLLYDLSKDPGENYNLLGGVAGATP
  EVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCHPGCTPRPACCHCPDPHA

• Structural information:
  • Interpro: IPR017849  IPR017850  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • PDB: 1AUK 1E1Z 1E2S 1E33 1E3C 1N2K 1N2L 2AIJ 2AIK 2HI8
  • PDBsum: 1AUK 1E1Z 1E2S 1E33 1E3C 1N2K 1N2L 2AIJ 2AIK 2HI8
  • STRING: ENSP00000216124
• Other Databases: GeneCards:  ARSA  Malacards:  ARSA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004065	arylsulfatase activity	TAS	molecular function
GO:0004098	cerebroside-sulfatase activity	TAS	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008484	sulfuric ester hydrolase activity	IDA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0004065	arylsulfatase activity	TAS	molecular function
GO:0004098	cerebroside-sulfatase activity	IEA	molecular function
GO:0004098	cerebroside-sulfatase activity	TAS	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IDA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004065	arylsulfatase activity	TAS	molecular function
GO:0004098	cerebroside-sulfatase activity	TAS	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005764	lysosome	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0006687	glycosphingolipid metabolic process	TAS	biological process
GO:0008484	sulfuric ester hydrolase activity	IDA	molecular function
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Arylsulphatase A pseudodeficiency	GAD: 7815433
Metachromatic leukodystrophy	KEGG: H00127
Alzheimer's disease	GAD: 12459318
Chronic renal failure	GAD: 21085059
Defects in the degradation of sulfatide	KEGG: H00423
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 23209833
Non obstructive azoospermia	MIK: 24012201
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23209833	Male infertility				Male infertility
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq