ARSL (arylsulfatase L)

Gene

• Entrez ID: 415
• Gene name: Arylsulfatase L
• Gene symbol: ARSL
• Synonyms (NCBI Gene): ARSE, ASE, CDPX, CDPX1, CDPXR
• Chromosome: X
• Chromosome location: Xp22.33
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28935474	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338710	A>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs80338711	C>A,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs80338713	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338714	C>T	Pathogenic	Coding sequence variant, stop gained
rs122460152	C>T	Pathogenic	Coding sequence variant, missense variant
rs122460153	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs122460154	C>G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs122460155	C>T	Pathogenic	Coding sequence variant, missense variant
rs143383382	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, intron variant, stop gained
rs144630754	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs145946864	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs201424543	C>G,T	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs886041134	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041135	G>A	Pathogenic	Stop gained, coding sequence variant
rs1085307895	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691809	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555909466	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1555910687	AAG>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	7720070
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0004065	Function	Arylsulfatase activity	IDA	9497243
GO:0004065	Function	Arylsulfatase activity	IEA
GO:0004065	Function	Arylsulfatase activity	TAS	9192838
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	9497243
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867

Other IDs

• MIM: 300180
• HGNC: 719
• e!Ensembl: ENSG00000157399

Protein

• UniProt ID: P51690
• Protein name: Arylsulfatase L (EC 3.1.6.1) (Arylsulfatase E) (ASE)
• Protein function: Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	38 → 424	Sulfatase	Family
  PF14707	Sulfatase_C	448 → 582		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the pancreas, liver and kidney. {ECO:0000269|PubMed:7720070}.
• Sequence:

  MLHLHHSCLCFRSWLPAMLAVLLSLAPSASSDISASRPNILLLMADDLGIGDIGCYGNNT
  MRTPNIDRLAEDGVKLTQHISAASLCTPSRAAFLTGRYPVRSGMVSSIGYRVLQWTGASG
  GLPTNETTFAKILKEKGYATGLIGKWHLGLNCESASDHCHHPLHHGFDHFYGMPFSLMGD
  CARWELSEKRVNLEQKLNFLFQVLALVALTLVAGKLTHLIPVSWMPVIWSALSAVLLLAS
  SYFVGALIVHADCFLMRNHTITEQPMCFQRTTPLILQEVASFLKRNKHGPFLLFVSFLHV
  HIPLITMENFLGKSLHGLYGDNVEEMDWMVGRILDTLDVEGLSNSTLIYFTSDHGGSLEN
  QLGNTQYGGWNGIYKGGKGMGGWEGGIRVPGIFRWPGVLPAGRVIGEPTSLMDVFPTVVR
  LAGGEVPQDRVIDGQDLLPLLLGTAQHSDHEFLMHYCERFLHAARWHQRDRGTMWKVHFV
  TPVFQPEGAGACYGRKVCPCFGEKVVHHDPPLLFDLSRDPSETHILTPASEPVFYQVMER
  VQQAVWEHQRTLSPVPLQLDRLGNIWRPWLQPCCGPFPLCWCLREDDPQ

• Sequence length: 589

Pathways

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Chondrodysplasia Punctata	Chondrodysplasia punctata, brachytelephalangic, autosomal	rs80338714, rs2089231699	N/A
Chondrodysplasia Punctata X-Linked	x-linked chondrodysplasia punctata 1	rs122460155, rs28935474, rs80338714, rs122460152, rs122460153, rs80338711, rs122460154	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Coffin-Siris Syndrome	Coffin-Siris syndrome 1	N/A	N/A	ClinVar
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adrenoleukodystrophy	Associate	2339111
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis	Associate	31337364
Anonychia onychodystrophy with hypoplasia or absence of distal phalanges	Associate	7720070
Chondrodysplasia Punctata	Associate	7720070
Growth Disorders	Associate	36026611
Nasal Bones Absence of	Associate	7720070
Spinal Stenosis	Associate	31337364
Testicular Diseases	Associate	36026611
Turner Syndrome	Associate	25366798
Uterine Cervical Neoplasms	Associate	32306508
Warfarin syndrome	Associate	7720070
X Linked Chondrodysplasia Punctata 1	Associate	31337364, 35256563