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ARSD arylsulfatase D [ Homo sapiens (human) ]

Gene ID: 414, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See ARSD in Genome Data Viewer
Location:
Xp22.33
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (2903972..2929339, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (2516466..2541817, complement)
RS_2024_09 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

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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. 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. Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. Gläser B, et al. Chromosome Res, 1997 May. PMID 9246409
  3. 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
  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. 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

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

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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

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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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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 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

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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)

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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.

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_2024_08

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

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