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ARSE arylsulfatase E (chondrodysplasia punctata 1) [ Homo sapiens (human) ]

Gene ID: 415, updated on 12-Apr-2014
Official Symbol
ARSEprovided by HGNC
Official Full Name
arylsulfatase E (chondrodysplasia punctata 1)provided by HGNC
Primary source
HGNC:719
See related
Ensembl:ENSG00000157399; HPRD:02171; MIM:300180; Vega:OTTHUMG00000137358
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; 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]
Location :
Xp22.3
Sequence :
Chromosome: X; NC_000023.11 (2934632..2968310, complement)
See ARSE in Epigenomics, MapViewer

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glycogenin 2 Neighboring gene arylsulfatase D Neighboring gene arylsulfatase family, member H Neighboring gene arylsulfatase F

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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
  • Estrogen metabolism, organism-specific biosystem (from WikiPathways)
    Estrogen metabolism, organism-specific biosystem
    Estrogen metabolism
  • 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.
  • PTM: gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
    PTM: 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...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
arylsulfatase activity TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sphingolipid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
arylsulfatase E
Names
arylsulfatase E
NP_000038.2
NP_001269557.1
NP_001269560.1

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
    961..34639
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to 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, OTTHUMP00000022851, ENST00000381134, OTTHUMT00000055643
    Conserved Domains (3) summary
    COG3119
    Location:34532
    Blast Score: 642
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:38423
    Blast Score: 474
    Sulfatase; Sulfatase
    pfam14707
    Location:448582
    Blast Score: 472
    Sulfatase_C; C-terminal region of aryl-sulfatase
  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
    UniProtKB/TrEMBL
    A1L484
    UniProtKB/TrEMBL
    B7Z1M0
    UniProtKB/TrEMBL
    B7Z6V4
    UniProtKB/TrEMBL
    F5GYY5
    Conserved Domains (3) summary
    COG3119
    Location:59557
    Blast Score: 646
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:63448
    Blast Score: 476
    Sulfatase; Sulfatase
    pfam14707
    Location:473607
    Blast Score: 476
    Sulfatase_C; C-terminal region of aryl-sulfatase
  3. NM_001282631.1NP_001269560.1  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, AW779826, BC130438, BP272004, BP272164, HX786884
    UniProtKB/TrEMBL
    A1L484
    UniProtKB/TrEMBL
    B7Z1M0
    UniProtKB/TrEMBL
    F5H324
    Conserved Domains (3) summary
    COG3119
    Location:18487
    Blast Score: 544
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:18378
    Blast Score: 406
    Sulfatase; Sulfatase
    pfam14707
    Location:403537
    Blast Score: 470
    Sulfatase_C; C-terminal region of aryl-sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11

    Range
    2934632..2968310, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274518.1XP_005274575.1  

    Conserved Domains (3) summary
    COG3119
    Location:43541
    Blast Score: 642
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:47432
    Blast Score: 475
    Sulfatase; Sulfatase
    pfam14707
    Location:457591
    Blast Score: 473
    Sulfatase_C; C-terminal region of aryl-sulfatase
  2. XM_005274519.2XP_005274576.1  

    See proteins identical to XP_005274576.1

    UniProtKB/Swiss-Prot
    P51690
    Conserved Domains (3) summary
    COG3119
    Location:34532
    Blast Score: 642
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:38423
    Blast Score: 474
    Sulfatase; Sulfatase
    pfam14707
    Location:448582
    Blast Score: 472
    Sulfatase_C; C-terminal region of aryl-sulfatase
  3. XM_005274521.2XP_005274578.1  

    Conserved Domains (3) summary
    COG3119
    Location:9478
    Blast Score: 543
    AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]
    pfam00884
    Location:9369
    Blast Score: 405
    Sulfatase; Sulfatase
    pfam14707
    Location:394528
    Blast Score: 468
    Sulfatase_C; C-terminal region of aryl-sulfatase

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    795878..829842, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    2883876..2917560, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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