• Gene id: 340075

Gene Summary

• Gene Symbol: ARSI   Gene   UCSC   Ensembl
• Aliases: ASI, SPG66
• Gene name: arylsulfatase family member I
• Alternate names: arylsulfatase I,
• Gene location: 5q32 (150302904: 150296342)     Exons: 2     NC_000005.10
• Gene summary(Entrez): This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degrada
• OMIM: 612519

Protein Summary

• Protein general information: Q5FYB1  
  • Name: Arylsulfatase I (ASI) (EC 3.1.6. )
  • Length: 569  
  • Mass: 64030
  • Tissue specificity: Expressed in placenta, in embryonic stem cells, fetal eyes and lens. {ECO
• Sequence:

  MHTLTGFSLVSLLSFGYLSWDWAKPSFVADGPGEAGEQPSAAPPQPPHIIFILTDDQGYHDVGYHGSDIETPTLD
  RLAAKGVKLENYYIQPICTPSRSQLLTGRYQIHTGLQHSIIRPQQPNCLPLDQVTLPQKLQEAGYSTHMVGKWHL
  GFYRKECLPTRRGFDTFLGSLTGNVDYYTYDNCDGPGVCGFDLHEGENVAWGLSGQYSTMLYAQRASHILASHSP
  QRPLFLYVAFQAVHTPLQSPREYLYRYRTMGNVARRKYAAMVTCMDEAVRNITWALKRYGFYNNSVIIFSSDNGG
  QTFSGGSNWPLRGRKGTYWEGGVRGLGFVHSPLLKRKQRTSRALMHITDWYPTLVGLAGGTTSAADGLDGYDVWP
  AISEGRASPRTEILHNIDPLYNHAQHGSLEGGFGIWNTAVQAAIRVGEWKLLTGDPGYGDWIPPQTLATFPGSWW
  NLERMASVRQAVWLFNISADPYEREDLAGQRPDVVRTLLARLAEYNRTAIPVRYPAENPRAHPDFNGGAWGPWAS
  DEEEEEEEGRARSFSRGRRKKKCKICKLRSFFRKLNTRLMSQRI

• Structural information:
  • Interpro: IPR017850  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • STRING: ENSP00000333395
• Other Databases: GeneCards:  ARSI  Malacards:  ARSI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004065	arylsulfatase activity	TAS	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0008484	sulfuric ester hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq