Format

Send to:

Choose Destination

ARSG arylsulfatase G [ Homo sapiens (human) ]

Gene ID: 22901, updated on 12-May-2019

Summary

Official Symbol
ARSGprovided by HGNC
Official Full Name
arylsulfatase Gprovided by HGNC
Primary source
HGNC:HGNC:24102
See related
Ensembl:ENSG00000141337 MIM:610008
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
USH4
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, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
Expression
Ubiquitous expression in thyroid (RPKM 2.8), placenta (RPKM 2.8) and 25 other tissues See more
Orthologs

Genomic context

See ARSG in Genome Data Viewer
Location:
17q24.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (68259182..68452005)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66255323..66425516)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 27 pseudogene 2 Neighboring gene archaelysin family metallopeptidase 2 Neighboring gene solute carrier family 16 member 6 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene microRNA 635 Neighboring gene WD repeat domain, phosphoinositide interacting 1 Neighboring gene uncharacterized LOC105371873 Neighboring gene FAM20A golgi associated secretory pathway pseudokinase Neighboring gene long intergenic non-protein coding RNA 1482

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
USHER SYNDROME, TYPE IV
MedGen: CN257730 OMIM: 618144 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
NHGRI GWA Catalog

Pathways from BioSystems

  • Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
    Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
  • The activation of arylsulfatases, organism-specific biosystem (from REACTOME)
    The activation of arylsulfatases, organism-specific biosystemSulfatase activity requires a unique posttranslational modification (PTM) of a catalytic cysteine residue into a formylglycine. This modification is impaired in patients with multiple sulfatase defic...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1001

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arylsulfatase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT arylsulfatase activity IDA
Inferred from Direct Assay
more info
PubMed 
arylsulfatase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
sulfur compound metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032814.2 RefSeqGene

    Range
    5094..166771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001267727.1NP_001254656.1  arylsulfatase G isoform 1 precursor

    See identical proteins and their annotated locations for NP_001254656.1

    Status: REVIEWED

    Source sequence(s)
    AB023218, BC012375, BG700864
    Consensus CDS
    CCDS11676.1
    UniProtKB/Swiss-Prot
    Q96EG1
    UniProtKB/TrEMBL
    A0A024R8K1
    Related
    ENSP00000480910.1, ENST00000621439.4
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G
  2. NM_001352899.1NP_001339828.1  arylsulfatase G isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, CA308403
    Consensus CDS
    CCDS11676.1
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G
  3. NM_001352900.1NP_001339829.1  arylsulfatase G isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, BC012375
    Consensus CDS
    CCDS11676.1
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G
  4. NM_001352901.1NP_001339830.1  arylsulfatase G isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, BC012375
    Consensus CDS
    CCDS11676.1
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G
  5. NM_001352902.1NP_001339831.1  arylsulfatase G isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, CA308403
    Consensus CDS
    CCDS11676.1
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G
  6. NM_001352903.1NP_001339832.1  arylsulfatase G isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, BC012375
    Conserved Domains (1) summary
    cd16161
    Location:35468
    ARSG; arylsulfatase G
  7. NM_001352904.1NP_001339833.1  arylsulfatase G isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, CA308403
    Conserved Domains (1) summary
    cd16161
    Location:35468
    ARSG; arylsulfatase G
  8. NM_001352905.1NP_001339834.1  arylsulfatase G isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, BM664718
    Conserved Domains (1) summary
    cd16161
    Location:35468
    ARSG; arylsulfatase G
  9. NM_001352906.1NP_001339835.1  arylsulfatase G isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, CA308403
    Conserved Domains (1) summary
    cd16161
    Location:35468
    ARSG; arylsulfatase G
  10. NM_001352907.1NP_001339836.1  arylsulfatase G isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, BC012375
    Conserved Domains (1) summary
    cd16161
    Location:35468
    ARSG; arylsulfatase G
  11. NM_001352909.1NP_001339838.1  arylsulfatase G isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780, BM664718
    Conserved Domains (1) summary
    cl23718
    Location:35420
    ALP_like; alkaline phosphatases and sulfatases
  12. NM_001352910.1NP_001339839.1  arylsulfatase G isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005332, AC007780
    Conserved Domains (1) summary
    cd16161
    Location:35436
    ARSG; arylsulfatase G
  13. NM_014960.4NP_055775.2  arylsulfatase G isoform 1 precursor

    See identical proteins and their annotated locations for NP_055775.2

    Status: REVIEWED

    Source sequence(s)
    AB023218, AC005332, AY358380, BC012375
    Consensus CDS
    CCDS11676.1
    UniProtKB/Swiss-Prot
    Q96EG1
    UniProtKB/TrEMBL
    A0A024R8K1
    Related
    ENSP00000407193.2, ENST00000448504.6
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    68259182..68452005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024368.1XP_016879857.1  arylsulfatase G isoform X4

    Conserved Domains (2) summary
    COG3119
    Location:35354
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:35363
    ALP_like; alkaline phosphatases and sulfatases
  2. XM_011524536.2XP_011522838.1  arylsulfatase G isoform X1

    See identical proteins and their annotated locations for XP_011522838.1

    Conserved Domains (2) summary
    COG3119
    Location:35457
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16161
    Location:35496
    ARSG; arylsulfatase G
  3. XM_011524537.1XP_011522839.1  arylsulfatase G isoform X1

    See identical proteins and their annotated locations for XP_011522839.1

    Conserved Domains (2) summary
    COG3119
    Location:35457
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16161
    Location:35496
    ARSG; arylsulfatase G
  4. XM_017024360.2XP_016879849.1  arylsulfatase G isoform X1

    Conserved Domains (2) summary
    COG3119
    Location:35457
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16161
    Location:35496
    ARSG; arylsulfatase G
  5. XM_017024365.1XP_016879854.1  arylsulfatase G isoform X2

    UniProtKB/Swiss-Prot
    Q96EG1
    UniProtKB/TrEMBL
    A0A024R8K1
    Conserved Domains (1) summary
    cd16161
    Location:35469
    ARSG; arylsulfatase G
  6. XM_024450658.1XP_024306426.1  arylsulfatase G isoform X3

    Related
    ENSP00000413953.2, ENST00000452479.6
    Conserved Domains (1) summary
    cl23718
    Location:53332
    ALP_like; alkaline phosphatases and sulfatases
  7. XM_011524546.2XP_011522848.1  arylsulfatase G isoform X5

    Conserved Domains (1) summary
    cl23718
    Location:1247
    ALP_like; alkaline phosphatases and sulfatases
Support Center