• Gene id: 415

Gene Summary

• Gene Symbol: ARSL   Gene   UCSC   Ensembl
• Aliases: ARSE, ASE, CDPX, CDPX1, CDPXR
• Gene name: arylsulfatase L
• Alternate names: arylsulfatase L, arylsulfatase E, arylsulfatase E (chondrodysplasia punctata 1),
• Gene location: Xp22.33 (2968244: 2934520)     Exons: 13     NC_000023.11
• Gene summary(Entrez): Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disea
• OMIM: 609447

Protein Summary

• Protein general information: P51690  
  • Name: Arylsulfatase L (EC 3.1.6. ) (Arylsulfatase E) (ASE)
  • Length: 589  
  • Mass: 65669
  • Tissue specificity: Expressed in the pancreas, liver and kidney.
• Sequence:

  MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNTMRTPNIDRLAEDGVK
  LTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASGGLPTNETTFAKILKEKGYATGLIGKWHLGL
  NCESASDHCHHPLHHGFDHFYGMPFSLMGDCARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWM
  PVIWSALSAVLLLASSYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHV
  HIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLENQLGNTQYGGWNGIYK
  GGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVRLAGGEVPQDRVIDGQDLLPLLLGTAQHSDH
  EFLMHYCERFLHAARWHQRDRGTMWKVHFVTPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHI
  LTPASEPVFYQVMERVQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ

• Structural information:
  • Interpro: IPR017850  IPR024607  IPR000917  
  • Prosite: PS00523 PS00149
  • STRING: ENSP00000441417
• Other Databases: GeneCards:  ARSL  Malacards:  ARSL

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:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0004065	arylsulfatase activity	TAS	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005795	Golgi stack	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
X-linked chondrodysplasia punctata	KEGG:H01194
X-linked chondrodysplasia punctata	KEGG:H01194
Chondrodysplasia punctata	PMID:9409863
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R