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ARSL arylsulfatase L [ Homo sapiens (human) ]

Gene ID: 415, updated on 12-Oct-2019

Summary

Official Symbol
ARSLprovided by HGNC
Official Full Name
arylsulfatase Lprovided by HGNC
Primary source
HGNC:HGNC:719
See related
Ensembl:ENSG00000157399 MIM:300180
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
ASE; ARSE; CDPX; CDPX1; CDPXR
Summary
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]
Expression
Biased expression in kidney (RPKM 13.0), liver (RPKM 12.3) and 9 other tissues See more
Orthologs

Genomic context

See ARSL in Genome Data Viewer
Location:
Xp22.33
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (2934521..2968312, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (2852673..2886345, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glycogenin 2 Neighboring gene ARSD antisense RNA 1 Neighboring gene arylsulfatase D Neighboring gene arylsulfatase family member H Neighboring gene RNA, 7SL, cytoplasmic 578, pseudogene Neighboring gene arylsulfatase F

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
Triplosensitivity

No evidence available (Last evaluated (2012-07-12)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-12)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).
NHGRI GWA Catalog
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog

Pathways from BioSystems

  • Estrogen metabolism, organism-specific biosystem (from WikiPathways)
    Estrogen metabolism, organism-specific biosystem
    Estrogen metabolism
  • Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
    Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
  • The activation of arylsulfatases, organism-specific biosystem (from REACTOME)
    The activation of arylsulfatases, organism-specific biosystemSulfatase activity requires a unique posttranslational modification (PTM) of a catalytic cysteine residue into a formylglycine. This modification is impaired in patients with multiple sulfatase defic...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163310

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylsulfatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
arylsulfatase E
Names
arylsulfatase E (chondrodysplasia punctata 1)
NP_000038.2
NP_001269557.1
NP_001269560.2
NP_001356008.1
NP_001356009.1
XP_005274576.1
XP_005274578.1
XP_011543823.1
XP_016885015.1

NCBI Reference Sequences (RefSeq)

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_007091.1 RefSeqGene

    Range
    4818..34639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000047.3NP_000038.2  arylsulfatase E isoform 2 precursor

    See identical proteins and their annotated locations for NP_000038.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC005295, AK223183, AK223199, AW779826
    Consensus CDS
    CCDS14122.1
    UniProtKB/Swiss-Prot
    P51690
    Related
    ENSP00000370526.3, ENST00000381134.8
    Conserved Domains (2) summary
    COG3119
    Location:34532
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:37560
    ALP_like; alkaline phosphatases and sulfatases
  2. NM_001282628.1NP_001269557.1  arylsulfatase E isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK293648, AK301004, AW779826, BC130438, CN270432, DA915010, DB073314
    Consensus CDS
    CCDS75948.1
    UniProtKB/TrEMBL
    A1L484, B7Z1M0, B7Z6V4, F5GYY5
    Related
    ENSP00000441417.1, ENST00000545496.6
    Conserved Domains (1) summary
    cl23718
    Location:62585
    ALP_like; alkaline phosphatases and sulfatases
  3. NM_001282631.2NP_001269560.2  arylsulfatase E isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, lacks two alternate exons in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK293648, AK301004
    Consensus CDS
    CCDS75949.1
    Related
    ENSP00000500108.1, ENST00000672761.1
  4. NM_001369079.1NP_001356008.1  arylsulfatase E isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005295
    Related
    ENSP00000500727.1, ENST00000672097.1
    Conserved Domains (1) summary
    cl23718
    Location:46569
    ALP_like; alkaline phosphatases and sulfatases
  5. NM_001369080.1NP_001356009.1  arylsulfatase E isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC005295
    Related
    ENSP00000500220.1, ENST00000672027.1
    Conserved Domains (1) summary
    cl23718
    Location:62585
    ALP_like; alkaline phosphatases and sulfatases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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
    2934521..2968312 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545521.1XP_011543823.1  arylsulfatase E isoform X6

    Conserved Domains (2) summary
    COG3119
    Location:34345
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:37373
    ALP_like; alkaline phosphatases and sulfatases
  2. XM_005274521.4XP_005274578.1  arylsulfatase E isoform X4

    See identical proteins and their annotated locations for XP_005274578.1

    Conserved Domains (2) summary
    COG3119
    Location:9478
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:9506
    ALP_like; alkaline phosphatases and sulfatases
  3. XM_017029526.1XP_016885015.1  arylsulfatase E isoform X5

    Conserved Domains (2) summary
    COG3119
    Location:59370
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:62398
    ALP_like; alkaline phosphatases and sulfatases
  4. XM_005274519.4XP_005274576.1  arylsulfatase E isoform X3

    See identical proteins and their annotated locations for XP_005274576.1

    UniProtKB/Swiss-Prot
    P51690
    Conserved Domains (2) summary
    COG3119
    Location:34532
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    cl23718
    Location:37560
    ALP_like; alkaline phosphatases and sulfatases
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