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

    Gene ID: 79642, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    4q26
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (113900284..113979647, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (117209000..117288314, complement)
    105.20220307 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
    • 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 (9) 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_2023_10

    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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