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    ARSA arylsulfatase A [ Homo sapiens (human) ]

    Gene ID: 410, updated on 8-Jul-2021

    Summary

    Official Symbol
    ARSAprovided by HGNC
    Official Full Name
    arylsulfatase Aprovided by HGNC
    Primary source
    HGNC:HGNC:713
    See related
    Ensembl:ENSG00000100299 MIM:607574
    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
    ASA; 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]
    Expression
    Ubiquitous expression in testis (RPKM 9.9), spleen (RPKM 8.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ARSA in Genome Data Viewer
    Location:
    22q13.33
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (50622754..50628152, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (51061182..51066580, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CHKB divergent transcript Neighboring gene mitogen-activated protein kinase 8 interacting protein 2 Neighboring gene SH3 and multiple ankyrin repeat domains 3 Neighboring gene RNA, U6 small nuclear 409, pseudogene Neighboring gene uncharacterized LOC105373100

    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

    Associated conditions

    Description Tests
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    Metachromatic leukodystrophy
    MedGen: C0023522 OMIM: 250100 GeneReviews: Arylsulfatase A Deficiency
    Compare labs
    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.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables arylsulfatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cerebroside-sulfatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sulfuric ester hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    located_in lysosome TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    arylsulfatase A
    Names
    cerebroside-sulfatase
    epididymis secretory sperm binding protein
    NP_000478.3
    NP_001078894.2
    NP_001078895.2
    NP_001078896.2
    NP_001078897.1
    NP_001349711.1
    XP_011528993.1
    XP_016884289.1
    XP_024308009.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5028..10426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000487.6NP_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, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2, B4DVI5
      Related
      ENSP00000216124.5, ENST00000216124.10
      Conserved Domains (2) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22505
      ARSA; Arylsulfatase A or cerebroside-sulfatase
    2. NM_001085425.3NP_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
      ENSP00000378983.3, ENST00000395621.7
      Conserved Domains (2) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22505
      ARSA; Arylsulfatase A or cerebroside-sulfatase
    3. NM_001085426.3NP_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, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2
      Related
      ENSP00000348406.5, ENST00000356098.9
      Conserved Domains (2) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22505
      ARSA; Arylsulfatase A or cerebroside-sulfatase
    4. NM_001085427.3NP_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, U62317
      Consensus CDS
      CCDS14100.2
      UniProtKB/Swiss-Prot
      P15289
      UniProtKB/TrEMBL
      A0A0C4DFZ2
      Related
      ENSP00000378981.3, ENST00000395619.3
      Conserved Domains (2) summary
      COG3119
      Location:21443
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16158
      Location:22505
      ARSA; Arylsulfatase A or cerebroside-sulfatase
    5. NM_001085428.3NP_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
      ENSP00000412542.2, ENST00000453344.6
      Conserved Domains (1) summary
      cl23718
      Location:1419
      ALP_like; alkaline phosphatases and sulfatases
    6. NM_001362782.2NP_001349711.1  arylsulfatase A isoform b

      Status: REVIEWED

      Source sequence(s)
      BQ184813, U62317
      Consensus CDS
      CCDS46736.1
      Conserved Domains (1) summary
      cl23718
      Location:1419
      ALP_like; alkaline phosphatases and sulfatases

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      50622754..50628152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452241.1XP_024308009.1  arylsulfatase A isoform X3

      Conserved Domains (1) summary
      cl23718
      Location:22371
      ALP_like; alkaline phosphatases and sulfatases
    2. XM_017028800.1XP_016884289.1  arylsulfatase A isoform X1

    3. XM_011530691.3XP_011528993.1  arylsulfatase A isoform X3

      Conserved Domains (1) summary
      cl23718
      Location:22371
      ALP_like; alkaline phosphatases and sulfatases
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