ARSD arylsulfatase D [Homo sapiens (human)] - Gene

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: all
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Genomic context

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36003 (e-PCR)
- UniSTS:77343

PMC156606P1 (e-PCR)
- UniSTS:271408

G42687 (e-PCR)
- UniSTS:140874

GDB:595531 (e-PCR)
- UniSTS:158026

SHGC-67307 (e-PCR)
- UniSTS:89991

RH66803 (e-PCR)
- UniSTS:26061

RH1702 (e-PCR)
- UniSTS:53464

GDB:631813 (e-PCR)
- UniSTS:158430

RH38684 (e-PCR)
- UniSTS:85472

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

EC 3.1.6.1

NP_033667.2

EC 3.1.6.1

XP_005274571.1

EC 3.1.6.1

XP_005274572.1

EC 3.1.6.1

XP_047298064.1

EC 3.1.6.1

XP_054183045.1

EC 3.1.6.1

XP_054183046.1

EC 3.1.6.1

XP_054183047.1

EC 3.1.6.1

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

NG_012495.1 RefSeqGene

Range

5013..30380

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

2903972..2929339 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
XM_047442108.1 → XP_047298064.1 arylsulfatase D isoform X2