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ARSJ arylsulfatase family member J [ Homo sapiens (human) ]

Gene ID: 79642, updated on 2-Nov-2024

Summary

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Official Symbol
ARSJprovided by HGNC
Official Full Name
arylsulfatase family member Jprovided by HGNC
Primary source
HGNC:HGNC:26286
See related
Ensembl:ENSG00000180801 MIM:610010; AllianceGenome:HGNC:26286
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
ASJ
Summary
Sulfatases (EC 3.1.5.6), such as ARSJ, 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
Broad expression in gall bladder (RPKM 2.3), prostate (RPKM 2.1) and 20 other tissues See more
Orthologs
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Genomic context

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See ARSJ in Genome Data Viewer
Location:
4q26
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (113900284..113979647, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (117209000..117288314, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (114821440..114900803, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:114373445-114373992 Neighboring gene calcium/calmodulin dependent protein kinase II delta Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15645 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_72235 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:114481688-114482887 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_72247 Neighboring gene Sharpr-MPRA regulatory region 13729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15646 Neighboring gene Sharpr-MPRA regulatory region 15168 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:114566848-114567352 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15647 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:114683084-114683622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:114683623-114684161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21839 Neighboring gene uncharacterized LOC105377375 Neighboring gene NANOG hESC enhancer GRCh37_chr4:114805704-114806205 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:114839688-114840887 Neighboring gene uncharacterized LOC107986305 Neighboring gene uncharacterized LOC124900762 Neighboring gene uncharacterized LOC105377376 Neighboring gene NANOG hESC enhancer GRCh37_chr4:114948704-114949205

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 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. Molecular cloning and initial characterization of three novel human sulfatases. Obaya AJ. Gene, 2006 May 10. PMID 16500042
  2. Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese. He J, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24165912, Free PMC Article
  3. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. Sardiello M, et al. Hum Mol Genet, 2005 Nov 1. PMID 16174644
  4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. Kalsi G, et al. Hum Mol Genet, 2010 Jun 15. PMID 20332099, Free PMC Article
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
  2. 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.
Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
EBI GWAS Catalog

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

Clone Names

  • FLJ23548

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 actin cytoskeleton IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
arylsulfatase J
NP_001341139.1
NP_001341140.1
NP_078866.3
XP_011530540.1
XP_016864081.1
XP_016864083.1
XP_024309983.1
XP_047272110.1
XP_047272111.1
XP_047272113.1

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_001354210.2 → NP_001341139.1  arylsulfatase J isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC104779
    Conserved Domains (2) summary
    cd16029
    Location:76 → 509
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    cl20644
    Location:495 → 533
    DUF4976; Domain of unknown function (DUF4976)

  2. NM_001354211.2 → NP_001341140.1  arylsulfatase J isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC104779
    Conserved Domains (2) summary
    cd16029
    Location:17 → 393
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    cl20644
    Location:379 → 417
    DUF4976; Domain of unknown function (DUF4976)

  3. NM_024590.4 → NP_078866.3  arylsulfatase J isoform 1 precursor

    See identical proteins and their annotated locations for NP_078866.3

    Status: VALIDATED

    Source sequence(s)
    AC104779, AI087279, AY875938, BC089445, BG661302, DA884606
    Consensus CDS
    CCDS43264.1
    UniProtKB/Swiss-Prot
    A2RUG0, B7ZM45, Q1HA39, Q5FWE4, Q5FYB0, Q6UWT9
    Related
    ENSP00000320219.7, ENST00000315366.8
    Conserved Domains (2) summary
    cd16029
    Location:76 → 509
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    cl20644
    Location:495 → 533
    DUF4976; Domain of unknown function (DUF4976)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    113900284..113979647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416157.1 → XP_047272113.1  arylsulfatase J isoform X6

  2. XM_047416155.1 → XP_047272111.1  arylsulfatase J isoform X5

  3. XM_047416154.1 → XP_047272110.1  arylsulfatase J isoform X2

  4. XM_017008592.3 → XP_016864081.1  arylsulfatase J isoform X1

    UniProtKB/Swiss-Prot
    A2RUG0, B7ZM45, Q1HA39, Q5FWE4, Q5FYB0, Q6UWT9
    Conserved Domains (2) summary
    cd16029
    Location:76 → 509
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    cl20644
    Location:495 → 533
    DUF4976; Domain of unknown function (DUF4976)

  5. XM_017008594.3 → XP_016864083.1  arylsulfatase J isoform X5

    Conserved Domains (2) summary
    cd16029
    Location:17 → 393
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    cl20644
    Location:379 → 417
    DUF4976; Domain of unknown function (DUF4976)

  6. XM_024454215.2 → XP_024309983.1  arylsulfatase J isoform X4

    Conserved Domains (1) summary
    cd16029
    Location:26 → 402
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

  7. XM_011532238.4 → XP_011530540.1  arylsulfatase J isoform X3

    Conserved Domains (3) summary
    COG3119
    Location:26 → 402
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cd16029
    Location:26 → 402
    4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    cl20644
    Location:388 → 426
    DUF4976; Domain of unknown function (DUF4976)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    117209000..117288314 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5FYB0.1 GenPept UniProtKB/Swiss-Prot:Q5FYB0

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