ARSA Gene
protein-coding GIFtS: 67
GCID: GC22M051063
|
|
arylsulfatase A
| |
Aliases
for ARSA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Arylsulfatase A1 2 | | Cerebroside-Sulfatase1 | | ASA2 3 | | EC 3.1.6.83 | | MLD2 | | EC 3.1.68 | | Cerebroside-Sulfatase1 | | |
Export aliases for ARSA gene to outside databasesPrevious GC identifers: GC22M047567 GC22M049195 GC22M049353 GC22M049410 GC22M033953 |
Summaries
for ARSA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ARSA:
The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene leadto metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurologicalsymptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. (providedby RefSeq, Dec 2010)
UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289Function: Hydrolyzes cerebroside sulfate
Gene Wiki entry for ARSA (Arylsulfatase A)
|
Genomic Views
for ARSA gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000022.10 NC_018933.1 NT_011526.7
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ARSA gene promoter:
GR ER-alpha AML1a RelA Nkx2-5 E4BP4 NF-kappaB COMP1 GR-alpha NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for ARSA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 22q13.33 Ensembl cytogenetic band: 22q13.33 HGNC cytogenetic band: 22q13.31-qterARSA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22M051063: view genomic region
(about GC identifiers)
Start:
|
51,063,446 bp from pter |
End:
|
51,066,607 bp from pter |
Size:
|
3,162 bases |
Orientation:
|
minus strand |
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Proteins
for ARSA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289 (See
protein sequence)Recommended Name: Arylsulfatase A precursor Size: 507 amino acids; 53588 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) oras a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1
Subcellular location: Lysosome
Miscellaneous: The metal cofactor was first identified as magnesium ion, based on the structure of the recombinantprotein, but when purified from human placenta, the protein contains 1 calcium ion per subunit
Sequence caution: Sequence=AAB03341.1; Type=Erroneous initiation; Sequence=BAH11167.1; Type=Erroneous initiation;
6/9 PDB 3D structures from  and Proteopedia  for ARSA (see all 9):1AUK (3D)
1E1Z (3D)
1E2S (3D)
1E33 (3D)
1E3C (3D)
1N2K (3D)
Secondary accessions: B2RCA6 B7XD04 F8WCC8 Q6ICI5 Q96CJ0Alternative splicing: 2 isoforms: P15289-1 P15289-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ARSA: NX_P15289
Post-translational modifications:
The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotesand of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification isseverely defective in multiple sulfatase deficiency (MSD)1
View neXtProt modification sites for NX_P15289
2 DME Specific Peptides for ARSA (P15289)
ARSA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_000478.3 NP_001078894.2 NP_001078895.2 NP_001078896.2 NP_001078897.1
ENSEMBL proteins: ENSP00000348406 ENSP00000216124 ENSP00000378983 ENSP00000412542 ENSP00000378981 ENSP00000448440 ENSP00000448932 Reactome Protein details: P15289
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
ARSA for ontologies About GeneDecksing
ARSA Antibody Products:
Assay Products for ARSA: |
Protein
Domains /
Families
for ARSA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARSA for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P15289ProtoNet protein and cluster: P15289 1 Blocks protein family: IPB000917 Sulfatase
UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289Similarity: Belongs to the sulfatase family |
Function
for ARSA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289Function: Hydrolyzes cerebroside sulfateCatalytic activity: A cerebroside 3-sulfate + H(2)O = a cerebroside + sulfateEnzyme regulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine Genatlas biochemistry entry for ARSA:arylsulfatase A,lysosomal,hydrolyzing esters bonds in cerebrosides,sulfation of most sulfolipids
Enzyme Numbers (IUBMB): EC 3.1.6.81 EC 3.1.62
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428) | |  | Sino Biological Human cDNA Clone for ARSA | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARSA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
ARSA for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for ARSA:
Animal Models:
Mouse knock-out Arsatm1Gie for ARSA
6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Arsa):
ARSA for phenotypes About GeneDecksing
|
Pathways & Interactions
for ARSA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Sphingolipid metabolism | | | 2 | PTM: gamma carboxylation, hypusine formation and arylsulfatase activation | | | 3 | Metabolism | | | 4 | Asparagine N-linked glycosylation | | | 5 | Active ARSA translocates to the lysosome | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/9 
Reactome Pathways for ARSA (see all 9)
2 
Kegg Pathways (Kegg details for ARSA):
ARSA for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARSA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/26 Interacting proteins for ARSA (P152893 ENSP000002161244) via UniProtKB, MINT, STRING, and/or I2D (see all 26)About this table
Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006665 | sphingolipid metabolic process |
TAS | -- | | GO:0006687 | glycosphingolipid metabolic process |
TAS | -- | | GO:0007339 | binding of sperm to zona pellucida |
-- | -- | | GO:0043687 | post-translational protein modification |
TAS | -- |
ARSA for ontologies About GeneDecksing
|
Drugs & Compounds
for ARSA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ARSA for compounds About GeneDecksing
 Browse Tocris compounds for ARSA
10/11 HMDB Compounds for ARSA (see all 11) About this table
| Compound | Synonyms |
CAS
# | PubMed Ids |
|---|
| 3-O-Sulfogalactosylceramide (d18:1/24:0) | - Sulfatide (d18:1/24:0)
- 3'-O-Sulphogalactosylceramide
- 3-O-Sulfogalactosylceramide
- 3-O-Sulphogalactosylceramide
- 3-O-sulfo-beta-D-galactosylceramide
- Cerebroside 3-sulfate
- Galactosylceramide-sulfate
- Galactosylceramidesulfate
- Sulfatide
- 3-O-sulfo-beta-delta-galactosylceramide
- N-[(1S,2R,3E)-2-hydroxy-1-[[(3-O-sulfo-b-D-galactopyranosyl)oxy]methyl]-3-heptadecen-1-yl]-Tetracosanamide
- N-[(1S,2R,3E)-2-hydroxy-1-[[(3-O-sulfo-b-D-galactopyranosyl)oxy]methyl]-3-heptadecenyl]-Tetracosanamide
- [R-[R*,S*-(E)]]-N-[2-hydroxy-1-[[(3-O-sulfo-b-D-galactopyranosyl)oxy]methyl]-3-heptadecenyl]-Tetracosanamide
- N-[(1S,2R,3E)-2-hydroxy-1-[[(3-O-sulfo-beta-delta-galactopyranosyl)oxy]methyl]-3-heptadecen-1-yl]-Tetracosanamide
- N-[(1S,2R,3E)-2-hydroxy-1-[[(3-O-sulfo-beta-delta-galactopyranosyl)oxy]methyl]-3-heptadecenyl]-Tetracosanamide
- [R-[R*,S*-(E)]]-N-[2-hydroxy-1-[[(3-O-sulfo-beta-delta-galactopyranosyl)oxy]methyl]-3-heptadecenyl]-Tetracosanamide
(see top 1) | 151122-71-3 | -- | | Galactosylceramide (d18:1/16:0) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(hexadecanoyl)-1-b-galactosyl-sphing-4-enine
- delta-Galactosyl-N-acylsphingosine
- delta-Galactosylceramide
- N-(hexadecanoyl)-1-beta-galactosyl-sphing-4-enine
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- Galactosylceramide
(see top 1) | -- | -- | | Galactosylceramide (d18:1/18:0) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(octadecanoyl)-1-b-galactosyl-sphing-4-enine
- delta-Galactosyl-N-acylsphingosine
- delta-Galactosylceramide
- N-(octadecanoyl)-1-beta-galactosyl-sphing-4-enine
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- Galactosylceramide
(see top 1) | -- | -- | | Galactosylceramide (d18:1/18:1(9Z)) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(9Z-octadecenoyl)-1-b-galactosyl-sphing-4-enine
- N-(9Z-octadecenoyl)-1-beta-galactosyl-sphing-4-enine
- delta-Galactosylceramide
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- delta-Galactosyl-N-acylsphingosine
- Galactosylceramide
(see top 1) | -- | -- | | Galactosylceramide (d18:1/20:0) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(eicosanoyl)-1-b-galactosyl-sphing-4-enine
- delta-Galactosyl-N-acylsphingosine
- delta-Galactosylceramide
- N-(eicosanoyl)-1-beta-galactosyl-sphing-4-enine
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- Galactosylceramide
(see top 1) | -- | -- | | Galactosylceramide (d18:1/22:0) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(docosanoyl)-1-b-galactosyl-sphing-4-enine
- delta-Galactosyl-N-acylsphingosine
- delta-Galactosylceramide
- N-(docosanoyl)-1-beta-galactosyl-sphing-4-enine
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- Galactosylceramide
(see top 1) | -- | -- | | Galactosylceramide (d18:1/24:1(15Z)) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(15Z-tetracosenoyl)-1-b-galactosyl-sphing-4-enine
- delta-Galactosyl-N-acylsphingosine
- delta-Galactosylceramide
- N-(15Z-tetracosenoyl)-1-beta-galactosyl-sphing-4-enine
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- Galactosylceramide
(see top 1) | -- | -- | | Galactosylceramide (d18:1/26:1(17Z)) | - Galactocerebroside
- D-Galactosyl-N-acylsphingosine
- Cerebroside
- D-Galactosylceramide
- N-(17Z-hexacosenoyl)-1-b-galactosyl-sphing-4-enine
- delta-Galactosyl-N-acylsphingosine
- delta-Galactosylceramide
- N-(17Z-hexacosenoyl)-1-beta-galactosyl-sphing-4-enine
- GalCer
- a-GalCer
- alpha-GalCer
- Gal-beta-1-1'Cer
- Gal-b-Cer
- Gal-beta-Cer
- Galactosylceramide
(see top 1) | -- | -- | | Magnesium | (see top 1) | 7439-95-4 | -- | | Sulfate | - Sulfate (ion 2-)
- Sulfate anion
- Sulfate anion(2-)
- Sulfate dianion
- Sulfate ion
- Sulfate ion (SO42-)
- Sulfate(2-)
- Sulfuric acid ion(2-)
- Sulphate
(see top 1) | 14808-79-8 | -- |
4 DrugBank Compounds for ARSA About this table
10/42 Novoseek chemical compound relationships for ARSA gene (see all 42) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| sulfatide |
95.1 |
72 |
1359786 (6), 10894127 (3), 15322834 (2), 17204333 (2) (see all 37) |
| formylglycine |
90.1 |
3 |
10212197 (1), 9497327 (1), 9760228 (1) |
| p-nitrocatechol sulfate |
89.9 |
14 |
10464659 (2), 1687673 (2), 16613739 (2), 11870284 (1) (see all 7) |
| cerebroside |
77.4 |
9 |
10082381 (1), 11746679 (1), 1687673 (1), 15275696 (1) (see all 6) |
| n-acetylgalactosamine 6-sulfate |
72.1 |
2 |
1755850 (1), 1875023 (1) |
| mannose 6-phosphate |
70.3 |
12 |
12296771 (3), 1352293 (1), 8106525 (1), 15709909 (1) (see all 7) |
| sulf |
66.4 |
5 |
16311251 (2), 17093507 (2) |
| galactosylceramide |
65.7 |
3 |
9024105 (1), 18097285 (1) |
| mucopolysaccharide |
40.9 |
3 |
9336808 (2), 11315200 (1) |
| mannose |
35.5 |
3 |
1352293 (1), 7890120 (1), 9202426 (1) |
Search CenterWatch for drugs/clinical trials and news about ARSA
|
Transcripts
for ARSA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ARSA gene (5 alternative transcripts): NM_000487.5 NM_001085425.2 NM_001085426.2 NM_001085427.2 NM_001085428.2 Unigene Clusters for ARSA: Arylsulfatase A Hs.88251 [show with all ESTs], Hs.731715 [show with all ESTs]Unigene Representative Sequences: NM_000487, AK3105648 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000356098 ENST00000216124(uc003bna.4 uc021wsd.1 uc021wse.1 uc021wsf.1 uc003bmz.4)
ENST00000395621 ENST00000453344 ENST00000395619 ENST00000551731(uc010hbf.3)
ENST00000547307 ENST00000547805
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA (see all 7)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA (see all 6)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 5): ARSA (NM_001085428) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARSA | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA |
Additional cDNA sequence: AK301098.1 AK310564.1 17 DOTS entries: DT.453952 DT.100731419 DT.100877746 DT.100877744 DT.95337986 DT.65287834 DT.100699710 DT.100877740 DT.100028446 DT.95337982 DT.100644967 DT.95337987 DT.100877741 DT.120644762 DT.40230542 DT.91745500 DT.97844860 24/228 AceView cDNA sequences (see all 228): CR456383 AU105395 BE093076 BQ669212 BP367614 CB125745 BP380013 BM818658 BM709716 CB306644 CB120047 BQ917626 CB126238 BU618020 BU632246 CA423492 CR613582 BI906735 BQ109579 CR614235 CR590422 CR600807 BC014210 NM_000487
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ARSA (see all 8) About this scheme
| 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: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ARSA
|
Expression
for ARSA gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARSA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACCCTGGCG
About this image
See ARSA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARSA
SOURCE GeneReport for Unigene clusters: Hs.88251 Hs.731715
SABiosciences Custom PCR Arrays for ARSA
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARSA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARSA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARSA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA |
Orthologs
for ARSA gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ARSA gene from 5/17 species (see all 17) About this table
ENSEMBL Gene Tree for ARSA (if available)
TreeFam Gene Tree for ARSA (if available) |
Paralogs
for ARSA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ARSA gene
- ARSF2 ARSJ2 ARSI2 ARSG2 ARSH2 STS2 ARSB2 GALNS2
- ARSE2 ARSD2
3 SIMAP similar genes for ARSA using alignment to 1 protein entry: ARSA_HUMAN:DKFZp686G12235 GALNS ARSG
ARSA for paralogs About GeneDecksing
|
Genomic Variants
for ARSA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 22 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ARSA (51063446 - 51066607 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ARSA
1 CNV: 5192
Human Gene Mutation Database (HGMD): ARSA
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for ARSA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARSA for disorders About GeneDecksing
OMIM gene information: 607574
OMIM disorders: 250100
UniProtKB/Swiss-Prot: ARSA_HUMAN, P15289
Defects in ARSA are a cause of leukodystrophy metachromatic (MLD) [MIM:250100]. MLD is a disease due to alysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural andnon-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes avariety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, andspastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late-infantile,juvenile and adult Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) [MIM:272200]. A clinically andbiochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defectivepost-translational modification and activation. It combines features of individual sulfatase deficiencies such asmetachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologicdeterioration and developmental delay. Note=Arylsulfatase A activity is impaired in multiple sulfatase deficiency dueto mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys-69that is not converted to 3-oxoalanine
20/54  diseases for ARSA (see all 54): About MalaCardstay-sachs disease gangliosidosis gm1 central nervous system cancer lysosomal storage disease
pervasive developmental disorder nervous system cancer leukodystrophy metachromatic leukodystrophy
gangliosidosis sandhoff disease krabbe disease chondrodysplasia punctata
lactic acidosis fabry disease dysostosis wilson disease
gaucher's disease essential tremor sneddon syndrome metabolic disorders
4 diseases from the University of Copenhagen DISEASES database for ARSA:Metachromatic leukodystrophy Mucosulfatidosis Gangliosidosis Mucopolysaccharidosis 10/37 Novoseek disease relationships for ARSA gene (see all 37) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| leukodystrophy metachromatic |
99 |
308 |
1687673 (4), 1670590 (3), 12427515 (3), 1357970 (3) (see all 99) |
| leukodystrophy metachromatic late infantile |
95.6 |
8 |
8723680 (1), 14571263 (1), 9272717 (1), 9888390 (1) (see all 6) |
| leukodystrophy metachromatic adult |
93.3 |
2 |
7710377 (2) |
| multiple sulfatase deficiency |
90.5 |
6 |
9336808 (2), 12809637 (1), 15446395 (1), 1687673 (1) |
| leukodystrophy metachromatic juvenile |
89.2 |
3 |
8707308 (1), 1684088 (1) |
| lysosomal storage diseases |
87.2 |
43 |
1348043 (1), 7860068 (1), 8542433 (1), 9090526 (1) (see all 27) |
| demyelination |
75 |
16 |
7904733 (2), 7866401 (1), 10822308 (1), 15322834 (1) (see all 11) |
| sphingolipidoses |
67.3 |
1 |
18360747 (1) |
| krabbe disease |
64.2 |
4 |
7755846 (1), 10713632 (1), 15275696 (1) |
| enzyme deficiency |
59.1 |
4 |
18797988 (1), 17980709 (1), 1968615 (1) |
GeneTests: ARSA
Arylsulfatase A Deficiency
Genetic Association Database (GAD): ARSA
Human Genome Epidemiology (HuGE) Navigator: ARSA (5 documents)
Export disorders for ARSA gene to outside databases
|
Publications
for ARSA gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ARSA gene, integrated from 9 sources (see all 325):
(articles sorted by number of sources associating them with ARSA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene. (PubMed id 15026521)1, 2, 4 Gallo S.... Pandolfo M. (2004)
- Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T. (PubMed id 12788103)1, 2, 9 Marcao A.... Sa Miranda M.C. (2003)
- High residual arylsulfatase A (ARSA) activity in a patient with late- infantile metachromatic leukodystrophy. (PubMed id 8101038)1, 2, 9 Kreysing J.... Gieselmann V. (1993)
- Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles. (PubMed id 18693274)1, 2, 9 Grossi S....Filocamo M. (2008)
- Croatian population data for arylsulfatase a pseudodeficiency-associated mutations in healthy subjects, and in patients with Alzheimer-type dementia and Down syndrome. (PubMed id 12459318)1, 4, 9 Bognar S.K....Demarin V. (2002)
- Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis. (PubMed id 11124905)1, 2, 9 von Buelow R.... Uson I. (2001)
- Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity. (PubMed id 9888390)1, 2, 9 Berger J.... Bernheimer H. (1999)
- An arylsulfatase A (ARSA) missense mutation (T274M) causing late- infantile metachromatic leukodystrophy. (PubMed id 8104633)1, 2, 9 Harvey J.S.... Morris C.P. (1993)
- Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. (PubMed id 15710861)1, 2, 9 Marcao A.M.... Gieselmann V. (2005)
- The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy. (PubMed id 9744473)1, 2, 9 Ricketts M.H.... Manowitz P. (1998)
|
External Searches for ARSA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ARSA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ARSA gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ARSA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ARSA | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ARSA | | NIEHS-SNPs | http://egp.gs.washington.edu/data/arsa/ | | Wikipedia | http://en.wikipedia.org/wiki/Arylsulfatase_A |
|
| | |
About This Section
| Patent Information for ARSA gene:
Search GeneIP for patents involving ARSA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ARSA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | OriGene Antibodies for ARSA | | OriGene shRNA RFP for ARSA | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ARSA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARSA | | | OriGene Protein Over-expression Lysate for ARSA | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ARSA | | OriGene 3'-UTR Clone for ARSA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for ARSA | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ARSA | | OriGene Custom Protein Services for ARSA | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ARSA | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARSA | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSA | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ARSA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARSA |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSA |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARSA |
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