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ARSA arylsulfatase A [ Homo sapiens (human) ]

Gene ID: 410, updated on 9-Dec-2018

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

Genomic context

See ARSA in Genome Data Viewer
Location:
22q13.33
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from BioSystems

  • 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).
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • 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.
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
lysosomal lumen TAS
Traceable Author Statement
more info
 
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
XP_011528992.1
XP_011528993.1
XP_016884289.1
XP_024308009.1

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_009260.2 RefSeqGene

    Range
    5007..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, ENST00000216124.9
    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
  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
    ENSP00000378983.3, 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_001085426.2NP_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
    ENSP00000348406.5, 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_001085427.2NP_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
    ENSP00000378981.3, 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_001085428.2NP_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
    ENSP00000412542.2, ENST00000453344.6
    Conserved Domains (1) summary
    cl23718
    Location:1419
    ALP_like; alkaline phosphatases and sulfatases
  6. NM_001362782.1NP_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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011530690.2XP_011528992.1  arylsulfatase A isoform X2

    UniProtKB/Swiss-Prot
    P15289
    Conserved Domains (1) summary
    cl23718
    Location:1419
    ALP_like; alkaline phosphatases and sulfatases
  2. XM_024452241.1XP_024308009.1  arylsulfatase A isoform X3

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

  4. 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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