• Gene id: 414

Gene Summary

• Gene Symbol: ARSD   Gene   UCSC   Ensembl
• Aliases: ASD
• Gene name: arylsulfatase D
• Alternate names: arylsulfatase D, testis tissue sperm-binding protein Li 39a,
• Gene location: Xp22.33 (2929344: 2903971)     Exons: 11     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is loc
• OMIM: 300002

SNPs

rs4680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.19963748G>A
NC_000022.10   g.19951271G>A
NG_011526.1   g.27009G>A
NM_000754.4   c.472G>A
NM_000754.3   c.472G>A
NM_007310.3   c.322G>A
NM_007310.2   c.322G>A
NM_001362828.2   c.472G>A
NM_001362828.1   c.472G>A
NM_001135161.2   c.472G>A
NM_001135161.1   c.

Protein Summary

• Protein general information: P51689  
  • Name: Arylsulfatase D (ASD) (EC 3.1.6. )
  • Length: 593  
  • Mass: 64860
  • Tissue specificity: Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart.
• Sequence:

  MRSAARRGRAAPAARDSLPVLLFLCLLLKTCEPKTANAFKPNILLIMADDLGTGDLGCYGNNTLRTPNIDQLAEE
  GVRLTQHLAAAPLCTPSRAAFLTGRHSFRSGMDASNGYRALQWNAGSGGLPENETTFARILQQHGYATGLIGKWH
  QGVNCASRGDHCHHPLNHGFDYFYGMPFTLTNDCDPGRPPEVDAALRAQLWGYTQFLALGILTLAAGQTCGFFSV
  SARAVTGMAGVGCLFFISWYSSFGFVRRWNCILMRNHDVTEQPMVLEKTASLMLKEAVSYIERHKHGPFLLFLSL
  LHVHIPLVTTSAFLGKSQHGLYGDNVEEMDWLIGKVLNAIEDNGLKNSTFTYFTSDHGGHLEARDGHSQLGGWNG
  IYKGGKGMGGWEGGIRVPGIFHWPGVLPAGRVIGEPTSLMDVFPTVVQLVGGEVPQDRVIDGHSLVPLLQGAEAR
  SAHEFLFHYCGQHLHAARWHQKDSGSVWKVHYTTPQFHPEGAGACYGRGVCPCSGEGVTHHRPPLLFDLSRDPSE
  ARPLTPDSEPLYHAVIARVGAAVSEHRQTLSPVPQQFSMSNILWKPWLQPCCGHFPFCSCHEDGDGTP

• Structural information:
  • Interpro: IPR017850  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • STRING: ENSP00000370546
• Other Databases: GeneCards:  ARSD  Malacards:  ARSD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004065	arylsulfatase activity	IBA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004065	arylsulfatase activity	TAS	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005764	lysosome	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq