U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    ARSD arylsulfatase D [ Homo sapiens (human) ]

    Gene ID: 414, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    ARSDprovided by HGNC
    Official Full Name
    arylsulfatase Dprovided by HGNC
    Primary source
    HGNC:HGNC:717
    See related
    Ensembl:ENSG00000006756 MIM:300002; AllianceGenome:HGNC:717
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASD
    Summary
    The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 21.5), thyroid (RPKM 12.5) and 25 other tissues See more
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    Xp22.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (2903972..2929339, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2516466..2541817, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2822013..2847380, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:2699593-2700274 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2700956-2701636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2701637-2702317 Neighboring gene Xg glycoprotein (Xg blood group) Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2711950-2712538 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2717356-2718298 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2718299-2719240 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2721222-2721887 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:2722445-2723644 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:2764748-2764850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2766248-2766874 Neighboring gene glycogenin 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:2807746-2808337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chrX:2809856-2810546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2815103-2815898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:2815899-2816694 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 ATAC-STARR-seq lymphoblastoid silent region 20638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20639 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 arylsulfatase L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29373 Neighboring gene arylsulfatase family member H

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. ARSD, a novel ERα downstream target gene, inhibits proliferation and migration of breast cancer cells via activating Hippo/YAP pathway. Lin Y, et al. Cell Death Dis, 2021 Nov 2. PMID 34725332, Free PMC Article
    2. Gene expression profiling identifies ARSD as a new marker of disease progression and the sphingolipid metabolism as a potential novel metabolism in chronic lymphocytic leukemia. Trojani A, et al. Cancer Biomark, 2011-2012. PMID 22820137
    3. Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. Savarirayan R, et al. Am J Med Genet A, 2004 Jan 15. PMID 14699613
    4. Expression profiling of human sulfotransferase and sulfatase gene superfamilies in epithelial tissues and cultured cells. Dooley TP, et al. Biochem Biophys Res Commun, 2000 Oct 14. PMID 11027669
    5. Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Gläser B, et al. Chromosome Res, 1997 May. PMID 9246409

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ARSD, a novel ERalpha downstream target gene, inhibits proliferation and migration of breast cancer cells via activating Hippo/YAP pathway.
      Title: ARSD, a novel ERα downstream target gene, inhibits proliferation and migration of breast cancer cells via activating Hippo/YAP pathway.
    2. Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors.
      Title: Evaluation of Arylsulfatase D (ARSD) and long noncoding RNA ARSD-AS1 gene expression in breast cancer patients and their association with oncogenic transcription factors.
    3. ARSD protein level and IGVH were independently associated with the need for therapy of chronic lymphocytic leukemia patients.
      Title: Gene expression profiling identifies ARSD as a new marker of disease progression and the sphingolipid metabolism as a potential novel metabolism in chronic lymphocytic leukemia.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2016-07-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2016-07-21)

    ClinGen Genome Curation Page

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 lysosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    arylsulfatase D
    Names
    testis tissue sperm-binding protein Li 39a
    NP_001660.2
    NP_033667.2
    XP_005274571.1
    XP_005274572.1
    XP_047298064.1
    XP_054183045.1
    XP_054183046.1
    XP_054183047.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012495.1 RefSeqGene

      Range
      5013..30380
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001669.4 → NP_001660.2  arylsulfatase D isoform alpha precursor

      See identical proteins and their annotated locations for NP_001660.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (alpha).
      Source sequence(s)
      AC005295, AI289224, AK314479, BC020229, DA869167
      Consensus CDS
      CCDS35196.1
      UniProtKB/Swiss-Prot
      P51689, Q9UHJ8
      UniProtKB/TrEMBL
      A0A140VK06
      Related
      ENSP00000370546.1, ENST00000381154.6
      Conserved Domains (2) summary
      COG3119
      Location:40 → 525
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:40 → 563
      ALP_like; alkaline phosphatases and sulfatases

    2. NM_009589.5 → NP_033667.2  arylsulfatase D isoform beta precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 3' exons and uses an alternate 3' most exon compared to variant 1. The encoded isoform (beta) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AC005295, AF160499
      UniProtKB/Swiss-Prot
      P51689
      Related
      ENST00000217890.10
      Conserved Domains (2) summary
      COG3119
      Location:40 → 334
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:40 → 333
      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
      2903972..2929339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274514.3 → XP_005274571.1  arylsulfatase D isoform X1

      Conserved Domains (2) summary
      COG3119
      Location:40 → 480
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:40 → 518
      ALP_like; alkaline phosphatases and sulfatases

    2. XM_005274515.3 → XP_005274572.1  arylsulfatase D isoform X3

      Conserved Domains (2) summary
      COG3119
      Location:40 → 470
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cl23718
      Location:40 → 473
      ALP_like; alkaline phosphatases and sulfatases

    3. XM_047442108.1 → XP_047298064.1  arylsulfatase D isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      2516466..2541817 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327070.1 → XP_054183045.1  arylsulfatase D isoform X1

    2. XM_054327072.1 → XP_054183047.1  arylsulfatase D isoform X3

    3. XM_054327071.1 → XP_054183046.1  arylsulfatase D isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51689.2 GenPept UniProtKB/Swiss-Prot:P51689

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous