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ARSK arylsulfatase family member K [ Homo sapiens (human) ]

Gene ID: 153642, updated on 12-Oct-2019

Summary

Official Symbol
ARSKprovided by HGNC
Official Full Name
arylsulfatase family member Kprovided by HGNC
Primary source
HGNC:HGNC:25239
See related
Ensembl:ENSG00000164291 MIM:610011
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TSULF
Summary
Sulfatases (EC 3.1.5.6), such as ARSK, 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 [PubMed 16174644]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in thyroid (RPKM 2.9), ovary (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See ARSK in Genome Data Viewer
Location:
5q15
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (95555101..95605102)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (94890825..94940806)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 81 member B Neighboring gene RTRAF pseudogene 2 Neighboring gene tetratricopeptide repeat domain 37 Neighboring gene RNA, U6 small nuclear 308, pseudogene Neighboring gene uncharacterized LOC112267933 Neighboring gene G protein-coupled receptor 150

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

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).
  • 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

  • DKFZp313G1735

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylsulfatase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
arylsulfatase K
Names
ASK
telethon sulfatase
NP_937793.1
XP_005271961.1

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.

mRNA and Protein(s)

  1. NM_198150.3NP_937793.1  arylsulfatase K precursor

    See identical proteins and their annotated locations for NP_937793.1

    Status: VALIDATED

    Source sequence(s)
    AC008547, AC090071, AY875939
    Consensus CDS
    CCDS4073.1
    UniProtKB/Swiss-Prot
    Q6UWY0
    Related
    ENSP00000369346.4, ENST00000380009.9
    Conserved Domains (1) summary
    cd16171
    Location:32447
    ARSK; arylsulfatase family, member K ....arylsulfatase k short ask flags precursor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    95555101..95605102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271904.4XP_005271961.1  arylsulfatase K isoform X1

    Conserved Domains (1) summary
    cl23718
    Location:1288
    ALP_like; alkaline phosphatases and sulfatases
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