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

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; AllianceGenome:HGNC:25239
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: MPS10; 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: mouse all
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Genomic context

Location:: 5q15

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (95555101..95605102)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (96056040..96106030)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (94890805..94940806)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Further characterization of ARSK-related mucopolysaccharidosis type 10.
Title: Further characterization of ARSK-related mucopolysaccharidosis type 10.
Arylsulfatase K, a novel lysosomal sulfatase.
Title: Arylsulfatase K, a novel lysosomal sulfatase.
The identification, molecular cloning and initial characterization of three new members of this human gene family is reported.
Title: Molecular cloning and initial characterization of three novel human sulfatases.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mucopolysaccharidosis, type 10 MedGen: C5562064 OMIM: 619698 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arylsulfatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arylsulfatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables arylsulfatase activity	TAS Traceable Author Statement more info	PubMed
enables glucuronate-2-sulfatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glucuronate-2-sulfatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: arylsulfatase K

Names: ASK; glucuronate-2-sulfatase; telethon sulfatase

NP_937793.1

EC 3.1.6.1

EC 3.1.6.18

XP_047272776.1

EC 3.1.6.1

EC 3.1.6.18

XP_054207790.1

EC 3.1.6.1

EC 3.1.6.18

NCBI Reference Sequences (RefSeq)

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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.