ARSH (arylsulfatase family member H)

Gene

• Entrez ID: 347527
• Gene name: Arylsulfatase family member H
• Gene symbol: ARSH
• Synonyms (NCBI Gene): sulfatase
• Chromosome: X
• Chromosome location: Xp22.33
• Summary: Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [P

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0004065	Function	Arylsulfatase activity	TAS	16174644
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300586
• HGNC: 32488
• e!Ensembl: ENSG00000205667

Protein

• UniProt ID: Q5FYA8
• Protein name: Arylsulfatase H (ASH) (EC 3.1.6.-)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	7 → 393	Sulfatase	Family
  PF14707	Sulfatase_C	418 → 551		Domain

• Sequence:

  MTRNARPNIVLLMADDLGVGDLCCYGNNSVSTPNIDRLASEGVRLTQHLAAASMCTPSRA
  AFLTGRYPIRSGMVSAYNLNRAFTWLGGSGGLPTNETTFAKLLQHRGYRTGLIGKWHLGL
  SCASRNDHCYHPLNHGFHYFYGVPFGLLSDCQASKTPELHRWLRIKLWISTVALALVPFL
  LLIPKFARWFSVPWKVIFVFALLAFLFFTSWYSSYGFTRRWNCILMRNHEIIQQPMKEEK
  VASLMLKEALAFIERYKREPFLLFFSFLHVHTPLISKKKFVGRSKYGRYGDNVEEMDWMV
  GKILDALDQERLANHTLVYFTSDNGGHLEPLDGAVQLGGWNGIYKGGKGMGGWEGGIRVP
  GIFRWPSVLEAGRVINEPTSLMDIYPTLSYIGGGILSQDRVIDGQNLMPLLEGRASHSDH
  EFLFHYCGVYLHTVRWHQKDCATVWKAHYVTPKFYPEGTGACYGSGICSCSGDVTYHDPP
  LLFDISRDPSEALPLNPDNEPLFDSVIKKMEAAIREHRRTLTPVPQQFSVFNTIWKPWLQ
  PCCGTFPFCGCDKEDDILPMAP

• Sequence length: 562

Pathways

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aneurysm	Aneurysm	Pubtator	32421262	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30643981		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	32421262	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata	Chondrodysplasia Punctata	BEFREE	7720070		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29791237		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30643981, 31314133		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29620265		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	40250486	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	17454161	Stimulate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	23986440	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	29620265		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31450720		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	5551302	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30643981, 31314133		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis, Alcoholic	Alcoholic Liver Cirrhosis	BEFREE	31314133		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23383150		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	BEFREE	1550586, 1733863, 17616540, 9801874		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis II	Mucopolysaccharidosis	Pubtator	34031351	Inhibit	★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	Pubtator	1522213	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency	BEFREE	21415080, 22405600		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	18323798		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23383150		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29414684		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	20133602		★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	20133602	Associate	★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	27883927		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	1236779		★☆☆☆☆ Found in Text Mining only