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ARSH arylsulfatase family member H [ Homo sapiens (human) ]

Gene ID: 347527, updated on 5-Mar-2024

Summary

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Official Symbol
ARSHprovided by HGNC
Official Full Name
arylsulfatase family member Hprovided by HGNC
Primary source
HGNC:HGNC:32488
See related
Ensembl:ENSG00000205667 MIM:300586; AllianceGenome:HGNC:32488
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
sulfatase
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 [PubMed 16174644]).[supplied by OMIM, Mar 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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Location:
Xp22.33
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (3006546..3034111)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2619025..2646585)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2924587..2952152)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ARSD antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2841876-2842386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:2842387-2842896 Neighboring gene arylsulfatase D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20639 Neighboring gene arylsulfatase L Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2878567-2879390 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2879391-2880216 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:2881867-2882690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29373 Neighboring gene arylsulfatase F Neighboring gene RNA, 7SL, cytoplasmic 578, pseudogene Neighboring gene ribosomal protein S24 pseudogene 21

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Sardiello M, et al. Hum Mol Genet, 2005 Nov 1. PMID 16174644
  2. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
  3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables arylsulfatase activity TAS
Traceable Author Statement
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 membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
arylsulfatase H
Names
ASH

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.

mRNA and Protein(s)

  1. NM_001011719.2 → NP_001011719.1  arylsulfatase H

    See identical proteins and their annotated locations for NP_001011719.1

    Status: VALIDATED

    Source sequence(s)
    AC112653, AY875940
    Consensus CDS
    CCDS35198.1
    UniProtKB/Swiss-Prot
    Q5FYA8
    Related
    ENSP00000370522.3, ENST00000381130.3
    Conserved Domains (2) summary
    COG3119
    Location:6 → 437
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:6 → 530
    ALP_like; alkaline phosphatases and sulfatases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    3006546..3034111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    2619025..2646585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5FYA8.1 GenPept UniProtKB/Swiss-Prot:Q5FYA8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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