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ARSD arylsulfatase D [ Homo sapiens (human) ]

Gene ID: 414, updated on 10-Dec-2024

Summary

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
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Genomic context

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

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

BioGRID CRISPR Screen Phenotypes (11 hits/876 screens)

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables arylsulfatase activity  
enables metal ion binding  
Component Evidence Code Pubs
located_in endoplasmic reticulum lumen  
located_in lysosome  

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
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_001669.4NP_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, Q9UHJ8
    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: 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_005274514.3XP_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_005274515.3XP_005274572.1  arylsulfatase D isoform X3

    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
  3. XM_047442108.1XP_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_054327070.1XP_054183045.1  arylsulfatase D isoform X1

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

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

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