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    ARSA arylsulfatase A [ Homo sapiens (human) ]

    Gene ID: 410, updated on 14-Apr-2016
    Official Symbol
    ARSAprovided by HGNC
    Official Full Name
    arylsulfatase Aprovided by HGNC
    Primary source
    HGNC:HGNC:713
    See related
    Ensembl:ENSG00000100299 HPRD:09617; MIM:607574; Vega:OTTHUMG00000150180
    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
    MLD
    Summary
    The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
    Orthologs
    Location:
    22q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (50622754..50628173, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51061182..51066601, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CHKB antisense RNA 1 (head to head) Neighboring gene hornerin-like Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene SH3 and multiple ankyrin repeat domains 3 Neighboring gene uncharacterized LOC105373101 Neighboring gene uncharacterized LOC105373100

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Metachromatic leukodystrophy
    MedGen: C0023522 OMIM: 250100 GeneReviews: Arylsulfatase A Deficiency
    Compare labs

    NHGRI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
    NHGRI GWA Catalog
    • 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).
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • 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 KEGG)
      Sphingolipid metabolism, organism-specific biosystem
      Sphingolipid metabolism
    • 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...
    • Sphingolipid metabolism, conserved biosystem (from KEGG)
      Sphingolipid metabolism, conserved biosystem
      Sphingolipid metabolism
    • 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 
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cerebroside-sulfatase activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    arylsulfatase A
    Names
    ASA
    cerebroside-sulfatase
    NP_000478.3
    NP_001078894.2
    NP_001078895.2
    NP_001078896.2
    NP_001078897.1

    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_009260.2 RefSeqGene

      Range
      5007..10426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000487.5NP_000478.3  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_000478.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longer protein (isoform a). Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      AB448736, AK301098, BQ184813, DB028013, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2, B4DVI5
      Related
      ENSP00000216124, OTTHUMP00000196544, ENST00000216124, OTTHUMT00000316725
      Conserved Domains (3) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:23348
      Sulfatase; Sulfatase
      pfam14707
      Location:370504
      Sulfatase_C; C-terminal region of aryl-sulfatase
    2. NM_001085425.2NP_001078894.2  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_001078894.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      AB448736, AK092752, BQ184813, DB028013, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2
      Related
      ENSP00000378983, OTTHUMP00000196548, ENST00000395621, OTTHUMT00000316729
      Conserved Domains (3) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:23348
      Sulfatase; Sulfatase
      pfam14707
      Location:370504
      Sulfatase_C; C-terminal region of aryl-sulfatase
    3. NM_001085426.2NP_001078895.2  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_001078895.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      AB448736, AK315011, BQ184813, DB028013, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2
      Related
      ENSP00000348406, OTTHUMP00000196547, ENST00000356098, OTTHUMT00000316728
      Conserved Domains (3) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:23348
      Sulfatase; Sulfatase
      pfam14707
      Location:370504
      Sulfatase_C; C-terminal region of aryl-sulfatase
    4. NM_001085427.2NP_001078896.2  arylsulfatase A isoform a precursor

      See identical proteins and their annotated locations for NP_001078896.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same isoform (a).
      Source sequence(s)
      BQ184813, DB028013, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2
      Related
      ENSP00000378981, OTTHUMP00000196546, ENST00000395619, OTTHUMT00000316727
      Conserved Domains (3) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:23348
      Sulfatase; Sulfatase
      pfam14707
      Location:370504
      Sulfatase_C; C-terminal region of aryl-sulfatase
    5. NM_001085428.2NP_001078897.1  arylsulfatase A isoform b

      See identical proteins and their annotated locations for NP_001078897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB448736, BQ184813, DB028013, U62317
      Consensus CDS
      CCDS46736.1
      UniProtKB/Swiss-Prot
      P15289
      Related
      ENSP00000412542, OTTHUMP00000196545, ENST00000453344, OTTHUMT00000316726
      Conserved Domains (3) summary
      COG3119
      Location:1357
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:9262
      Sulfatase; Sulfatase
      pfam14707
      Location:284418
      Sulfatase_C; C-terminal region of aryl-sulfatase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      50622754..50628173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530690.1XP_011528992.1  

      See identical proteins and their annotated locations for XP_011528992.1

      UniProtKB/Swiss-Prot
      P15289
      Conserved Domains (3) summary
      COG3119
      Location:1357
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:9262
      Sulfatase; Sulfatase
      pfam14707
      Location:284418
      Sulfatase_C; C-terminal region of aryl-sulfatase
    2. XM_011530691.1XP_011528993.1  

      Conserved Domains (2) summary
      COG3119
      Location:21368
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      pfam00884
      Location:23348
      Sulfatase; Sulfatase

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      51019964..51025351 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)