Format

Send to:

Choose Destination

ARSD arylsulfatase D [ Homo sapiens (human) ]

Gene ID: 414, updated on 26-Jul-2021

Summary

Official Symbol
ARSDprovided by HGNC
Official Full Name
arylsulfatase Dprovided by HGNC
Primary source
HGNC:HGNC:717
See related
Ensembl:ENSG00000006756 MIM:300002
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See ARSD in Genome Data Viewer
Location:
Xp22.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (2903972..2929345, complement)
105.20201022 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 Xg glycoprotein (Xg blood group) Neighboring gene glycogenin 2 Neighboring gene ARSD antisense RNA 1 Neighboring gene arylsulfatase L Neighboring gene arylsulfatase family member H

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
arylsulfatase D
Names
testis tissue sperm-binding protein Li 39a
NP_001660.2
NP_033667.2
XP_005274571.1
XP_005274572.1

NCBI Reference Sequences (RefSeq)

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_001669.4NP_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
    UniProtKB/TrEMBL
    A0A140VK06
    Related
    ENSP00000370546.1, ENST00000381154.6
    Conserved Domains (2) summary
    COG3119
    Location:40525
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:40563
    ALP_like; alkaline phosphatases and sulfatases
  2. NM_009589.5NP_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:40334
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:40333
    ALP_like; alkaline phosphatases and sulfatases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    2903972..2929345 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274514.2XP_005274571.1  arylsulfatase D isoform X1

    Conserved Domains (2) summary
    COG3119
    Location:40480
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:40518
    ALP_like; alkaline phosphatases and sulfatases
  2. XM_005274515.2XP_005274572.1  arylsulfatase D isoform X2

    Conserved Domains (2) summary
    COG3119
    Location:40470
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:40473
    ALP_like; alkaline phosphatases and sulfatases
Support Center