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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Chondrodysplasia punctata, brachytelephalangic, autosomal	Likely pathogenic; Pathogenic	rs2147394157, rs2147401174, rs2147401694, rs1335931206, rs2518385575, rs2518385011, rs372316277, rs2089231699	RCV002242769 RCV002238542 RCV002238544 RCV003064667 RCV003596277 RCV003596386 RCV003596457 RCV002240261
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2147349066	RCV005930026
X-linked chondrodysplasia punctata 1	Likely pathogenic; Pathogenic	rs2147394157, rs2147349066, rs1272438892, rs2518346615, rs2518369116, rs122460152, rs122460153, rs80338711, rs122460154, rs122460155, rs28935474, rs2518346073, rs80338710	RCV001376980 RCV002238739 RCV002272711 RCV002306434 RCV002472154 RCV000012279 RCV000012280 RCV000012281 RCV000012282 RCV000012283 RCV000012284 RCV003486302 RCV000020090

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ARSL-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs137882432, rs369969850, rs200332753, rs2518376518, rs2518385019, rs80338711, rs151070930, rs61743737, rs375386476, rs183018622, rs150756612, rs61733257	RCV003921156 RCV003903632 RCV003933739 RCV003891826 RCV003391630 RCV003982802 RCV003944832 RCV003928260 RCV003908288 RCV003930402 RCV003933319 RCV003960635 RCV003908498
Cervical cancer	Conflicting classifications of pathogenicity	rs200062390	RCV005906605
Coffin-Siris syndrome 1	Conflicting classifications of pathogenicity	rs80338711	RCV004541010
Colon adenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs200062390, rs752354785	RCV005906604 RCV005912376
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs141210068, rs61733256, rs34412194, rs5982618, rs200332753, rs555426001, rs755373707, rs753971115, rs35274634, rs56393981, rs201424543, rs151070930, rs200062390, rs368359145	RCV002277098 RCV002277286 RCV002277287 RCV002277288 RCV002278701 RCV002278710 RCV002278737 RCV002278779 RCV002277597 RCV002279436 RCV002279418 RCV002279448 RCV002279518 RCV002279659 RCV002276594
Epilepsy	Benign; Likely benign	rs200332753	RCV005626625
Familial cancer of breast	Likely benign; Benign	rs376707494, rs211643	RCV005931551 RCV005902156
Intellectual disability	Benign; Likely benign	rs41310272	RCV005625705
See cases	Conflicting classifications of pathogenicity	rs80338714	RCV001196991
Thymoma	Conflicting classifications of pathogenicity	rs200062390	RCV005906607
Thyroid cancer, nonmedullary, 1	Likely benign	rs187110605, rs376707494, rs758104330	RCV005930022 RCV005931552 RCV005935051
Uterine carcinosarcoma	Benign	rs211643	RCV005902157
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs200062390, rs148471739	RCV005906608 RCV005912354
Uveal melanoma	Conflicting classifications of pathogenicity	rs200062390	RCV005906606

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