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Aliases for ARSA Gene

Aliases for ARSA Gene

  • Arylsulfatase A 2 3
  • Cerebroside-Sulfatase 3 4
  • ASA 3 4
  • Metachromatic Leucodystrophy 2
  • EC 3.1.6.8 4
  • EC 3.1.6 64
  • MLD 3

External Ids for ARSA Gene

Summaries for ARSA Gene

Entrez Gene Summary for ARSA Gene

  • 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]

GeneCards Summary for ARSA Gene

ARSA (Arylsulfatase A) is a Protein Coding gene. Diseases associated with ARSA include cerebral lipidosis and central nervous system cancer. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include calcium ion binding and sulfuric ester hydrolase activity. An important paralog of this gene is ARSJ.

UniProtKB/Swiss-Prot for ARSA Gene

  • Hydrolyzes cerebroside sulfate

Gene Wiki entry for ARSA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSA Gene

Genomics for ARSA Gene

Genomic Location for ARSA Gene

Start:
50,622,754 bp from pter
End:
50,628,173 bp from pter
Size:
5,420 bases
Orientation:
Minus strand

Genomic View for ARSA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARSA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARSA Gene

Regulatory Elements for ARSA Gene

Proteins for ARSA Gene

  • Protein details for ARSA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15289-ARSA_HUMAN
    Recommended name:
    Arylsulfatase A
    Protein Accession:
    P15289
    Secondary Accessions:
    • B2RCA6
    • B7XD04
    • F8WCC8
    • Q6ICI5
    • Q96CJ0

    Protein attributes for ARSA Gene

    Size:
    507 amino acids
    Molecular mass:
    53588 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    • Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.
    Miscellaneous:
    • The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit
    SequenceCaution:
    • Sequence=AAB03341.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH11167.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARSA Gene

    Alternative splice isoforms for ARSA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARSA Gene

Proteomics data for ARSA Gene at MOPED

Selected DME Specific Peptides for ARSA Gene

Post-translational modifications for ARSA Gene

  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
  • Glycosylation at Asn158, Asn184, and Asn350

Other Protein References for ARSA Gene

Domains for ARSA Gene

Gene Families for ARSA Gene

HGNC:
  • ARS :Arylsulfatase family

Protein Domains for ARSA Gene

UniProtKB/Swiss-Prot:

ARSA_HUMAN
Family:
  • Belongs to the sulfatase family.:
    • P15289
genes like me logo Genes that share domains with ARSA: view

Function for ARSA Gene

Molecular function for ARSA Gene

GENATLAS Biochemistry: arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids
UniProtKB/Swiss-Prot CatalyticActivity: A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfate
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.
UniProtKB/Swiss-Prot Function: Hydrolyzes cerebroside sulfate

Enzyme Numbers (IUBMB) for ARSA Gene

Gene Ontology (GO) - Molecular Function for ARSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004065 arylsulfatase activity IEA --
GO:0004098 cerebroside-sulfatase activity TAS --
GO:0005509 calcium ion binding IDA 12888274
GO:0005515 protein binding IPI 21516116
genes like me logo Genes that share ontologies with ARSA: view
genes like me logo Genes that share phenotypes with ARSA: view

Animal Models for ARSA Gene

MGI Knock Outs for ARSA:

miRNA for ARSA Gene

miRTarBase miRNAs that target ARSA

No data available for Transcription Factor Targeting and HOMER Transcription for ARSA Gene

Localization for ARSA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSA Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARSA Gene COMPARTMENTS Subcellular localization image for ARSA gene
Compartment Confidence
lysosome 5
vacuole 5
endoplasmic reticulum 4
cytosol 2
endosome 2
golgi apparatus 2
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ARSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm --
GO:0005764 lysosome TAS 2562955
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with ARSA: view

Pathways for ARSA Gene

genes like me logo Genes that share pathways with ARSA: view

Gene Ontology (GO) - Biological Process for ARSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006914 autophagy IEA --
GO:0007339 binding of sperm to zona pellucida IEA --
GO:0007417 central nervous system development IEA --
genes like me logo Genes that share ontologies with ARSA: view

Compounds for ARSA Gene

(11) HMDB Compounds for ARSA Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • Sulfatide (d18:1/24:0)
151122-71-3
Galactosylceramide (d18:1/16:0)
  • Galactocerebroside
Not Available
Galactosylceramide (d18:1/18:0)
  • Galactocerebroside
Not Available
Galactosylceramide (d18:1/18:1(9Z))
  • Galactocerebroside
Not Available
Galactosylceramide (d18:1/20:0)
  • Galactocerebroside
Not Available

(5) Drugbank Compounds for ARSA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid
target
2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid
enzyme
Micafungin
235114-32-6 enzyme substrate
N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium
target
Suramin
  • Bayer 205
145-63-1 enzyme inhibitor

(42) Novoseek inferred chemical compound relationships for ARSA Gene

Compound -log(P) Hits PubMed IDs
sulfatide 95.1 52
formylglycine 90.1 3
p-nitrocatechol sulfate 89.9 10
cerebroside 77.4 6
n-acetylgalactosamine 6-sulfate 72.1 2
genes like me logo Genes that share compounds with ARSA: view

Transcripts for ARSA Gene

Unigene Clusters for ARSA Gene

Arylsulfatase A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARSA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9
SP1: -
SP2: - -
SP3: - - - - - - - - - -
SP4: - - - -
SP5: -
SP6: - -
SP7:
SP8:

Relevant External Links for ARSA Gene

GeneLoc Exon Structure for
ARSA
ECgene alternative splicing isoforms for
ARSA

Expression for ARSA Gene

mRNA expression in normal human tissues for ARSA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ARSA Gene

SOURCE GeneReport for Unigene cluster for ARSA Gene Hs.88251

genes like me logo Genes that share expressions with ARSA: view

Orthologs for ARSA Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARSA 36
  • 99.29 (n)
  • 99.29 (a)
ARSA 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARSA 36
  • 87.42 (n)
  • 88.25 (a)
ARSA 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARSA 36
  • 86.79 (n)
  • 88.36 (a)
ARSA 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arsa 36
  • 83.68 (n)
  • 87.6 (a)
Arsa 16
Arsa 37
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSA 37
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 30 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Arsa 36
  • 82.97 (n)
  • 85.6 (a)
chicken
(Gallus gallus)
Aves ARSA 36
  • 67.43 (n)
  • 66.32 (a)
ARSA 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARSA 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsa 36
  • 58.75 (n)
  • 57.71 (a)
zebrafish
(Danio rerio)
Actinopterygii arsa 36
  • 59.82 (n)
  • 58.28 (a)
arsa 37
  • 56 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sul-2 37
  • 28 (a)
OneToMany
D1014.1 38
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
ManyToMany
Species with no ortholog for ARSA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARSA Gene

ENSEMBL:
Gene Tree for ARSA (if available)
TreeFam:
Gene Tree for ARSA (if available)

Paralogs for ARSA Gene

Paralogs for ARSA Gene

Selected SIMAP similar genes for ARSA Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ARSA: view

Variants for ARSA Gene

Sequence variations from dbSNP and Humsavar for ARSA Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs131713 -- 50,630,132(-) gcatc(C/T)gatca upstream-variant-2KB
rs131714 -- 50,630,089(-) cccaa(C/G)acggg upstream-variant-2KB
rs131715 -- 50,628,493(-) ACGCT(C/T)CGCGC upstream-variant-2KB
rs131716 -- 50,623,899(-) ttttt(-/TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT)gagac utr-variant-3-prime
rs131717 -- 50,623,794(-) AGCCT(C/G)CCTAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ARSA Gene

Variant ID Type Subtype PubMed ID
nsv915495 CNV Loss 21882294
nsv914542 CNV Loss 21882294
nsv914543 CNV Loss 21882294
nsv834239 CNV Loss 17160897
dgv5066n71 CNV Loss 21882294
dgv5067n71 CNV Loss 21882294
dgv5068n71 CNV Loss 21882294
dgv5069n71 CNV Loss 21882294
nsv519694 CNV Gain+Loss 19592680

Relevant External Links for ARSA Gene

HapMap Linkage Disequilibrium report
ARSA
Human Gene Mutation Database (HGMD)
ARSA

Disorders for ARSA Gene

(1) OMIM Diseases for ARSA Gene (607574)

UniProtKB/Swiss-Prot

ARSA_HUMAN
  • Leukodystrophy metachromatic (MLD) [MIM:250100]: A leukodystrophy due to a lysosomal storage defect. Characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile, juvenile and adult. {ECO:0000269 PubMed:10220151, ECO:0000269 PubMed:10381328, ECO:0000269 PubMed:10477432, ECO:0000269 PubMed:10533072, ECO:0000269 PubMed:10751093, ECO:0000269 PubMed:11020646, ECO:0000269 PubMed:11061266, ECO:0000269 PubMed:11456299, ECO:0000269 PubMed:11941485, ECO:0000269 PubMed:1353340, ECO:0000269 PubMed:14517960, ECO:0000269 PubMed:14680985, ECO:0000269 PubMed:15026521, ECO:0000269 PubMed:15326627, ECO:0000269 PubMed:15710861, ECO:0000269 PubMed:1670590, ECO:0000269 PubMed:1673291, ECO:0000269 PubMed:1678251, ECO:0000269 PubMed:18693274, ECO:0000269 PubMed:19606494, ECO:0000269 PubMed:20339381, ECO:0000269 PubMed:21265945, ECO:0000269 PubMed:7581401, ECO:0000269 PubMed:7825603, ECO:0000269 PubMed:7860068, ECO:0000269 PubMed:7902317, ECO:0000269 PubMed:7906588, ECO:0000269 PubMed:7909527, ECO:0000269 PubMed:8095918, ECO:0000269 PubMed:8101038, ECO:0000269 PubMed:8101083, ECO:0000269 PubMed:8104633, ECO:0000269 PubMed:8891236, ECO:0000269 PubMed:9090526, ECO:0000269 PubMed:9272717, ECO:0000269 PubMed:9452102, ECO:0000269 PubMed:9490297, ECO:0000269 PubMed:9600244, ECO:0000269 PubMed:9819708}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269 PubMed:15146462}. Note=The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine.

(37) Novoseek inferred disease relationships for ARSA Gene

Disease -log(P) Hits PubMed IDs
leukodystrophy metachromatic 99 143
leukodystrophy metachromatic late infantile 95.6 6
leukodystrophy metachromatic adult 93.3 2
multiple sulfatase deficiency 90.5 5
leukodystrophy metachromatic juvenile 89.2 2

Relevant External Links for ARSA

GeneTests
ARSA
GeneReviews
ARSA
Genetic Association Database (GAD)
ARSA
Human Genome Epidemiology (HuGE) Navigator
ARSA
genes like me logo Genes that share disorders with ARSA: view

Publications for ARSA Gene

  1. Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. (PMID: 1353340) Kappler J. … Gieselmann V. (Ann. Neurol. 1992) 3 4 23
  2. Molecular basis of different forms of metachromatic leukodystrophy. (PMID: 1670590) Polten A. … Gieselmann V. (N. Engl. J. Med. 1991) 3 4 23
  3. Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy. (PMID: 1673291) Kondo R. … Tsuji S. (Am. J. Hum. Genet. 1991) 3 4 23
  4. Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy. (PMID: 1678251) Gieselmann V. … von Figura K. (Am. J. Hum. Genet. 1991) 3 4 23
  5. A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme. (PMID: 7860068) Kafert S. … Gieselmann V. (Hum. Genet. 1995) 3 4 23

Products for ARSA Gene

Sources for ARSA Gene

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