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ARSA (arylsulfatase A)

Identity

Other aliasMLD
HGNC (Hugo) ARSA
LocusID (NCBI) 410
Atlas_Id 55976
Location 22q13.33  [Link to chromosome band 22q13]
Location_base_pair Starts at 50622754 and ends at 50628173 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARSA (22q13.33) / ANKLE2 (12q24.33)ARSA (22q13.33) / ARSA (22q13.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ARSA   713
Cards
Entrez_Gene (NCBI)ARSA  410  arylsulfatase A
AliasesMLD
GeneCards (Weizmann)ARSA
Ensembl hg19 (Hinxton)ENSG00000100299 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100299 [Gene_View]  chr22:50622754-50628173 [Contig_View]  ARSA [Vega]
ICGC DataPortalENSG00000100299
TCGA cBioPortalARSA
AceView (NCBI)ARSA
Genatlas (Paris)ARSA
WikiGenes410
SOURCE (Princeton)ARSA
Genetics Home Reference (NIH)ARSA
Genomic and cartography
GoldenPath hg38 (UCSC)ARSA  -     chr22:50622754-50628173 -  22q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ARSA  -     22q13.33   [Description]    (hg19-Feb_2009)
EnsemblARSA - 22q13.33 [CytoView hg19]  ARSA - 22q13.33 [CytoView hg38]
Mapping of homologs : NCBIARSA [Mapview hg19]  ARSA [Mapview hg38]
OMIM250100   607574   
Gene and transcription
Genbank (Entrez)AB448736 AK092752 AK098659 AK301098 AK310564
RefSeq transcript (Entrez)NM_000487 NM_001085425 NM_001085426 NM_001085427 NM_001085428
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ARSA
Cluster EST : UnigeneHs.731715 [ NCBI ]
CGAP (NCI)Hs.731715
Alternative Splicing GalleryENSG00000100299
Gene ExpressionARSA [ NCBI-GEO ]   ARSA [ EBI - ARRAY_EXPRESS ]   ARSA [ SEEK ]   ARSA [ MEM ]
Gene Expression Viewer (FireBrowse)ARSA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)410
GTEX Portal (Tissue expression)ARSA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP15289   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP15289  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP15289
Splice isoforms : SwissVarP15289
Catalytic activity : Enzyme3.1.6.8 [ Enzyme-Expasy ]   3.1.6.83.1.6.8 [ IntEnz-EBI ]   3.1.6.8 [ BRENDA ]   3.1.6.8 [ KEGG ]   
PhosPhoSitePlusP15289
Domaine pattern : Prosite (Expaxy)SULFATASE_1 (PS00523)    SULFATASE_2 (PS00149)   
Domains : Interpro (EBI)Alkaline_Pase-like_a/b/a    Alkaline_phosphatase_core    Sulfatase_CS    Sulfatase_N   
Domain families : Pfam (Sanger)Sulfatase (PF00884)   
Domain families : Pfam (NCBI)pfam00884   
Conserved Domain (NCBI)ARSA
DMDM Disease mutations410
Blocks (Seattle)ARSA
PDB (SRS)1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
PDB (PDBSum)1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
PDB (IMB)1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
PDB (RSDB)1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
Structural Biology KnowledgeBase1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
SCOP (Structural Classification of Proteins)1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
CATH (Classification of proteins structures)1AUK    1E1Z    1E2S    1E33    1E3C    1N2K    1N2L    2AIJ    2AIK    2HI8   
SuperfamilyP15289
Human Protein AtlasENSG00000100299
Peptide AtlasP15289
HPRD09617
IPIIPI00744184   IPI00853468   
Protein Interaction databases
DIP (DOE-UCLA)P15289
IntAct (EBI)P15289
FunCoupENSG00000100299
BioGRIDARSA
STRING (EMBL)ARSA
ZODIACARSA
Ontologies - Pathways
QuickGOP15289
Ontology : AmiGOarylsulfatase activity  cerebroside-sulfatase activity  calcium ion binding  protein binding  extracellular region  lysosome  endoplasmic reticulum lumen  glycosphingolipid metabolic process  sulfuric ester hydrolase activity  azurophil granule lumen  lysosomal lumen  neutrophil degranulation  post-translational protein modification  extracellular exosome  
Ontology : EGO-EBIarylsulfatase activity  cerebroside-sulfatase activity  calcium ion binding  protein binding  extracellular region  lysosome  endoplasmic reticulum lumen  glycosphingolipid metabolic process  sulfuric ester hydrolase activity  azurophil granule lumen  lysosomal lumen  neutrophil degranulation  post-translational protein modification  extracellular exosome  
Pathways : KEGGSphingolipid metabolism    Lysosome   
NDEx NetworkARSA
Atlas of Cancer Signalling NetworkARSA
Wikipedia pathwaysARSA
Orthology - Evolution
OrthoDB410
GeneTree (enSembl)ENSG00000100299
Phylogenetic Trees/Animal Genes : TreeFamARSA
HOVERGENP15289
HOGENOMP15289
Homologs : HomoloGeneARSA
Homology/Alignments : Family Browser (UCSC)ARSA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerARSA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ARSA
dbVarARSA
ClinVarARSA
1000_GenomesARSA 
Exome Variant ServerARSA
ExAC (Exome Aggregation Consortium)ARSA (select the gene name)
Genetic variants : HAPMAP410
Genomic Variants (DGV)ARSA [DGVbeta]
DECIPHERARSA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisARSA 
Mutations
ICGC Data PortalARSA 
TCGA Data PortalARSA 
Broad Tumor PortalARSA
OASIS PortalARSA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICARSA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDARSA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch ARSA
DgiDB (Drug Gene Interaction Database)ARSA
DoCM (Curated mutations)ARSA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ARSA (select a term)
intoGenARSA
Cancer3DARSA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM250100    607574   
Orphanet21364    21362    21363   
MedgenARSA
Genetic Testing Registry ARSA
NextProtP15289 [Medical]
TSGene410
GENETestsARSA
Target ValidationARSA
Huge Navigator ARSA [HugePedia]
snp3D : Map Gene to Disease410
BioCentury BCIQARSA
ClinGenARSA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD410
Chemical/Pharm GKB GenePA25005
Clinical trialARSA
Miscellaneous
canSAR (ICR)ARSA (select the gene name)
Probes
Litterature
PubMed119 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineARSA
EVEXARSA
GoPubMedARSA
iHOPARSA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:24:33 CEST 2017

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