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ARSA Gene(Protein Coding)

Arylsulfatase A

GCID:
GC22M050622
GIFtS:
68
Genes Participants
UDN Logo

Aliases for ARSA Gene

Aliases for ARSA Gene

  • Arylsulfatase A 2 3 5
  • Cerebroside-Sulfatase 3 4
  • ASA 3 4
  • Metachromatic Leucodystrophy 2
  • EC 3.1.6.8 4
  • EC 3.1.6 63
  • MLD 3

External Ids for ARSA Gene

Previous GeneCards Identifiers for ARSA Gene

  • GC22M047567
  • GC22M049195
  • GC22M049353
  • GC22M049410
  • GC22M051063
  • GC22M033953

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 Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency. Among its related pathways are Sphingolipid metabolism and Gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include calcium ion binding and arylsulfatase 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

Products:

  1. Regulatory Element

Regulatory Elements for ARSA Gene

Enhancers for ARSA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARSA on UCSC Golden Path with GeneCards custom track

Promoters for ARSA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARSA on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ARSA gene promoter:

Genomic Location for ARSA Gene

Chromosome:
22
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

Genes around ARSA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARSA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARSA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ARSA Gene

Proteins for ARSA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    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

Protein Expression for ARSA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ARSA Gene

P15289:

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 Asn 158, Asn 184, and Asn 350

Other Protein References for ARSA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for ARSA (Arylsulfatase A/ARSA)

Domains & Families for ARSA Gene

Gene Families for ARSA Gene

HGNC:

Protein Domains for ARSA Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ARSA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15289

UniProtKB/Swiss-Prot:

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

Function for ARSA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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

Phenotypes for ARSA Gene

MGI mutant phenotypes for ARSA:
inferred from 1 alleles
GenomeRNAi human phenotypes for ARSA:
genes like me logo Genes that share phenotypes with ARSA: view

Human Phenotype Ontology for ARSA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARSA Gene

MGI Knock Outs for ARSA:

Animal Model Products

miRNA for ARSA Gene

miRTarBase miRNAs that target ARSA

Inhibitory RNA Products

Flow Cytometry Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
extracellular 5
lysosome 5
vacuole 5
endoplasmic reticulum 4
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ARSA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with ARSA: view

Pathways & Interactions 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:0007584 response to nutrient IEA --
GO:0043687 post-translational protein modification TAS --
GO:0045471 response to ethanol IEA --
GO:0051597 response to methylmercury IEA --
genes like me logo Genes that share ontologies with ARSA: view

No data available for SIGNOR curated interactions for ARSA Gene

Drugs & Compounds for ARSA Gene

Products:

  1. Drug

(18) Drugs for ARSA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Micafungin Approved, Investigational Pharma Enzyme, substrate 57
Suramin Approved Pharma Antagonist, Enzyme, inhibitor 18
2-Amino-3-Hydroxy-3-Phosphonooxy-Propionic Acid Experimental Pharma Target, Enzyme 0
N,4-Dihydroxy-N-Oxo-3-(Sulfooxy)Benzenaminium Experimental Pharma Target 0
Magnesium Nutra 0

(38) Additional Compounds for ARSA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
 14808-79-8
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • 3-O-Sulphogalactosylceramide
 151122-71-3
Galactosylceramide (d18:1/16:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:1(9Z))
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
genes like me logo Genes that share compounds with ARSA: view

Transcripts for ARSA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ARSA Gene

(7) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(228) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARSA Gene

Arylsulfatase A:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for ARSA Gene

mRNA expression in normal human tissues for ARSA Gene
mRNA expression by BioGPS for ARSA GenemRNA expression by GTEx for ARSA Gene

Protein differential expression in normal tissues from HIPED for ARSA Gene

This gene is overexpressed in Urine (26.3), Bone marrow stromal cell (7.4), and Stomach (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ARSA Gene



SOURCE GeneReport for Unigene cluster for ARSA Gene Hs.88251

genes like me logo Genes that share expression patterns with ARSA: view

Protein tissue co-expression partners for ARSA Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ARSA Gene

Orthologs for ARSA Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia ARSA 35
  • 87.42 (n)
  • 88.25 (a)
ARSA 36
  • 87 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ARSA 35
  • 86.79 (n)
  • 88.36 (a)
ARSA 36
  • 88 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Arsa 35
  • 83.68 (n)
  • 87.6 (a)
Arsa 16
Arsa 36
  • 86 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia ARSA 35
  • 99.29 (n)
  • 99.29 (a)
ARSA 36
  • 98 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Arsa 35
  • 82.97 (n)
  • 85.6 (a)
oppossum
(Monodelphis domestica)
 Mammalia ARSA 36
  • 75 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 36
  • 30 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves ARSA 35
  • 67.43 (n)
  • 66.32 (a)
ARSA 36
  • 64 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ARSA 36
  • 67 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia arsa 35
  • 58.75 (n)
  • 57.71 (a)
zebrafish
(Danio rerio)
 Actinopterygii arsa 35
  • 59.82 (n)
  • 58.28 (a)
arsa 36
  • 56 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea D1014.1 37
  • 36 (a)
sul-2 36
  • 28 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 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

(3) 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
rs199476362 - 50,627,398(-) CGCCC(C/T)CCTGA reference, missense, utr-variant-5-prime
rs6151411 Leukodystrophy metachromatic (MLD) 50,627,380(-) GCTCC(C/T)GGTTC reference, missense, utr-variant-5-prime
rs74315458 Leukodystrophy metachromatic (MLD) 50,627,374(-) GGTTC(A/G)GATGG reference, missense, utr-variant-5-prime
rs74315460 Leukodystrophy metachromatic (MLD) 50,627,368(-) GATGG(A/G)CATGT reference, missense
rs199476363 Leukodystrophy metachromatic (MLD) 50,627,341(-) GCCCA(A/G)CTCCC reference, missense

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

Variation tolerance for ARSA Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.41; 92.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARSA Gene

Human Gene Mutation Database (HGMD)
ARSA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARSA Gene

Disorders for ARSA Gene

MalaCards: The human disease database

(20) MalaCards diseases for ARSA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
metachromatic leukodystrophy
  • arylsulfatase a deficiency
multiple sulfatase deficiency
  • mucosulfatidosis
mucopolysaccharidosis type vi
  • mucopolysaccharidosis vi
metachromatic leukodystrophy, adult form
  • arylsulfatase a deficiency, adult form
metachromatic leukodystrophy, late infantile form
  • arylsulfatase a deficiency, late infantile form
- elite association - COSMIC cancer census association via MalaCards
Search ARSA in MalaCards View complete list of genes associated with diseases

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 (PubMed:15146462). SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69 that is not converted to 3-oxoalanine (PubMed:7628016). {ECO:0000269 PubMed:15146462, ECO:0000269 PubMed:7628016}.

Relevant External Links for ARSA

Genetic Association Database (GAD)
ARSA
Human Genome Epidemiology (HuGE) Navigator
ARSA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARSA
genes like me logo Genes that share disorders with ARSA: view

No data available for Genatlas for ARSA Gene

Publications for ARSA Gene

  1. Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. (PMID: 15026521) Gallo S. … Pandolfo M. (J. Neurol. Neurosurg. Psych. 2004) 3 4 48 67
  2. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. (PMID: 15772092) Matzner U. … Gieselmann V. (Hum. Mol. Genet. 2005) 2 3 23
  3. Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy. (PMID: 19606494) Cesani M. … Biffi A. (Hum. Mutat. 2009) 3 23
  4. Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (PMID: 18693274) Grossi S. … Filocamo M. (Hum. Mutat. 2008) 3 23
  5. Induction of tolerance to human arylsulfatase A in a mouse model of metachromatic leukodystrophy. (PMID: 17660863) Matzner U. … Gieselmann V. (Mol. Med. 2007) 3 23

Products for ARSA Gene

Sources for ARSA Gene

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