ARSG (arylsulfatase G)

Gene

• Entrez ID: 22901
• Gene name: Arylsulfatase G
• Gene symbol: ARSG
• Synonyms (NCBI Gene): USH4
• Chromosome: 17
• Chromosome location: 17q24.2
• Summary: The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1568445893	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046989	hsa-miR-218-5p	CLASH	23622248
MIRT801420	hsa-miR-154	CLIP-seq
MIRT801421	hsa-miR-3665	CLIP-seq
MIRT801422	hsa-miR-657	CLIP-seq
MIRT2176404	hsa-miR-3194-3p	CLIP-seq
MIRT2176405	hsa-miR-346	CLIP-seq
MIRT2176406	hsa-miR-4288	CLIP-seq
MIRT2176407	hsa-miR-592	CLIP-seq
MIRT2176408	hsa-miR-597	CLIP-seq
MIRT2176409	hsa-miR-632	CLIP-seq
MIRT2176410	hsa-miR-654-3p	CLIP-seq
MIRT2176411	hsa-miR-767-3p	CLIP-seq
MIRT2479648	hsa-miR-1207-3p	CLIP-seq
MIRT2479649	hsa-miR-124	CLIP-seq
MIRT2479650	hsa-miR-2115	CLIP-seq
MIRT2479651	hsa-miR-218	CLIP-seq
MIRT2479652	hsa-miR-3126-5p	CLIP-seq
MIRT2479653	hsa-miR-3145-5p	CLIP-seq
MIRT2479654	hsa-miR-3615	CLIP-seq
MIRT2479655	hsa-miR-3714	CLIP-seq
MIRT2479656	hsa-miR-3910	CLIP-seq
MIRT2479657	hsa-miR-4660	CLIP-seq
MIRT2479658	hsa-miR-4738-5p	CLIP-seq
MIRT2479659	hsa-miR-4779	CLIP-seq
MIRT2479660	hsa-miR-506	CLIP-seq
MIRT2479661	hsa-miR-516a-3p	CLIP-seq
MIRT2479662	hsa-miR-636	CLIP-seq
MIRT2479663	hsa-miR-765	CLIP-seq
MIRT2479648	hsa-miR-1207-3p	CLIP-seq
MIRT2479649	hsa-miR-124	CLIP-seq
MIRT2479650	hsa-miR-2115	CLIP-seq
MIRT2479651	hsa-miR-218	CLIP-seq
MIRT2479653	hsa-miR-3145-5p	CLIP-seq
MIRT2479655	hsa-miR-3714	CLIP-seq
MIRT2479656	hsa-miR-3910	CLIP-seq
MIRT2479657	hsa-miR-4660	CLIP-seq
MIRT2479658	hsa-miR-4738-5p	CLIP-seq
MIRT2479660	hsa-miR-506	CLIP-seq
MIRT2479661	hsa-miR-516a-3p	CLIP-seq
MIRT2479662	hsa-miR-636	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IBA
GO:0004065	Function	Arylsulfatase activity	IDA	12461688
GO:0004065	Function	Arylsulfatase activity	IDA	18283100
GO:0004065	Function	Arylsulfatase activity	IMP	29300381
GO:0004065	Function	Arylsulfatase activity	TAS	16174644
GO:0005615	Component	Extracellular space	IDA	18283100
GO:0005764	Component	Lysosome	IDA	18283100
GO:0005764	Component	Lysosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	12461688
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0006790	Process	Sulfur compound metabolic process	IDA	18283100
GO:0007040	Process	Lysosome organization	IEA
GO:0010001	Process	Glial cell differentiation	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0033889	Function	N-sulfoglucosamine-3-sulfatase activity	IDA	22689975
GO:0033889	Function	N-sulfoglucosamine-3-sulfatase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA

Other IDs

• MIM: 610008
• HGNC: 24102
• e!Ensembl: ENSG00000141337

Protein

• UniProt ID: Q96EG1
• Protein name: Arylsulfatase G (ASG) (EC 3.1.6.1) (N-sulfoglucosamine-3-sulfatase) (EC 3.1.6.15)
• Protein function: Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate (PubMed:18283100, PubMed:29300381). Ca
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00884	Sulfatase	36 → 378	Sulfatase	Family
  PF14707	Sulfatase_C	401 → 522		Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with very low expression in brain, lung, heart and skeletal muscle. {ECO:0000269|PubMed:12461688, ECO:0000269|PubMed:18283100, ECO:0000269|PubMed:29300381}.
• Sequence:

  MGWLFLKVLLAGVSFSGFLYPLVDFCISGKTRGQKPNFVIILADDMGWGDLGANWAETKD
  TANLDKMASEGMRFVDFHAAASTCSPSRASLLTGRLGLRNGVTRNFAVTSVGGLPLNETT
  LAEVLQQAGYVTGIIGKWHLGHHGSYHPNFRGFDYYFGIPYSHDMGCTDTPGYNHPPCPA
  CPQGDGPSRNLQRDCYTDVALPLYENLNIVEQPVNLSSLAQKYAEKATQFIQRASTSGRP
  FLLYVALAHMHVPLPVTQLPAAPRGRSLYGAGLWEMDSLVGQIKDKVDHTVKENTFLWFT
  GDNGPWAQKCELAGSVGPFTGFWQTRQGGSPAKQTTWEGGHRVPALAYWPGRVPVNVTST
  ALLSVLDIFPTVVALAQASLPQGRRFDGVDVSEVLFGRSQPGHRVLFHPNSGAAGEFGAL
  QTVRLERYKAFYITGGARACDGSTGPELQHKFPLIFNLEDDTAEAVPLERGGAEYQAVLP
  EVRKVLADVLQDIANDNISSADYTQDPSVTPCCNPYQIACRCQAA

• Sequence length: 525

Pathways

KEGG:

Lysosome

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Usher syndrome	Usher syndrome, type 4	rs1568445893	N/A
Usher Syndrome	usher syndrome	rs1568445893	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Diabetes	Type 2 diabetes	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Atrophy	Associate	29300381, 33629623
Cardiovascular Diseases	Associate	37828521
Deaf Blind Disorders	Associate	29300381
Dystonia	Associate	31731261
Hearing Loss Sensorineural	Associate	29300381, 33629623
Hypoalphalipoproteinemias	Associate	34223797
Pancreatic Neoplasms	Associate	35077391
Retinitis	Associate	33629623
Retinitis Pigmentosa	Associate	33629623
Scotoma	Associate	29300381
Usher Syndrome Type IF	Associate	35226187
Usher Syndromes	Associate	29300381, 33629623, 35226187