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IDUA (iduronidase, alpha-L-)

Identity

Alias_symbol (synonym)MPS1
Other aliasIDA
HGNC (Hugo) IDUA
LocusID (NCBI) 3425
Atlas_Id 64502
Location 4p16.3  [Link to chromosome band 4p16]
Location_base_pair Starts at 986997 and ends at 1004557 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FAM134C (17q21.2) / IDUA (4p16.3)IDUA (4p16.3) / IDUA (4p16.3)

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)IDUA   5391
Cards
Entrez_Gene (NCBI)IDUA  3425  iduronidase, alpha-L-
AliasesIDA; MPS1
GeneCards (Weizmann)IDUA
Ensembl hg19 (Hinxton)ENSG00000127415 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127415 [Gene_View]  chr4:986997-1004557 [Contig_View]  IDUA [Vega]
ICGC DataPortalENSG00000127415
TCGA cBioPortalIDUA
AceView (NCBI)IDUA
Genatlas (Paris)IDUA
WikiGenes3425
SOURCE (Princeton)IDUA
Genetics Home Reference (NIH)IDUA
Genomic and cartography
GoldenPath hg38 (UCSC)IDUA  -     chr4:986997-1004557 +  4p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IDUA  -     4p16.3   [Description]    (hg19-Feb_2009)
EnsemblIDUA - 4p16.3 [CytoView hg19]  IDUA - 4p16.3 [CytoView hg38]
Mapping of homologs : NCBIIDUA [Mapview hg19]  IDUA [Mapview hg38]
OMIM252800   607014   607015   607016   
Gene and transcription
Genbank (Entrez)AA114859 AB208901 AK098805 AK125223 AK291816
RefSeq transcript (Entrez)NM_000203
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IDUA
Cluster EST : UnigeneHs.89560 [ NCBI ]
CGAP (NCI)Hs.89560
Alternative Splicing GalleryENSG00000127415
Gene ExpressionIDUA [ NCBI-GEO ]   IDUA [ EBI - ARRAY_EXPRESS ]   IDUA [ SEEK ]   IDUA [ MEM ]
Gene Expression Viewer (FireBrowse)IDUA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3425
GTEX Portal (Tissue expression)IDUA
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35475   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35475  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35475
Splice isoforms : SwissVarP35475
Catalytic activity : Enzyme3.2.1.76 [ Enzyme-Expasy ]   3.2.1.763.2.1.76 [ IntEnz-EBI ]   3.2.1.76 [ BRENDA ]   3.2.1.76 [ KEGG ]   
PhosPhoSitePlusP35475
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F39 (PS01027)   
Domains : Interpro (EBI)Glyco_hydro_39    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Glyco_hydro_39 (PF01229)   
Domain families : Pfam (NCBI)pfam01229   
Conserved Domain (NCBI)IDUA
DMDM Disease mutations3425
Blocks (Seattle)IDUA
PDB (SRS)1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
PDB (PDBSum)1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
PDB (IMB)1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
PDB (RSDB)1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
Structural Biology KnowledgeBase1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
SCOP (Structural Classification of Proteins)1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
CATH (Classification of proteins structures)1Y24    3W81    3W82    4KGJ    4KGL    4KH2    4MJ2    4MJ4    4OBR    4OBS   
SuperfamilyP35475
Human Protein AtlasENSG00000127415
Peptide AtlasP35475
HPRD02016
IPIIPI00018879   IPI00902482   IPI00555600   IPI00964701   IPI00964811   IPI00964201   IPI00964534   
Protein Interaction databases
DIP (DOE-UCLA)P35475
IntAct (EBI)P35475
FunCoupENSG00000127415
BioGRIDIDUA
STRING (EMBL)IDUA
ZODIACIDUA
Ontologies - Pathways
QuickGOP35475
Ontology : AmiGOL-iduronidase activity  L-iduronidase activity  receptor binding  disaccharide metabolic process  glycosaminoglycan catabolic process  coated vesicle  chondroitin sulfate catabolic process  dermatan sulfate catabolic process  lysosomal lumen  extracellular exosome  
Ontology : EGO-EBIL-iduronidase activity  L-iduronidase activity  receptor binding  disaccharide metabolic process  glycosaminoglycan catabolic process  coated vesicle  chondroitin sulfate catabolic process  dermatan sulfate catabolic process  lysosomal lumen  extracellular exosome  
Pathways : KEGGGlycosaminoglycan degradation    Lysosome   
NDEx NetworkIDUA
Atlas of Cancer Signalling NetworkIDUA
Wikipedia pathwaysIDUA
Orthology - Evolution
OrthoDB3425
GeneTree (enSembl)ENSG00000127415
Phylogenetic Trees/Animal Genes : TreeFamIDUA
HOVERGENP35475
HOGENOMP35475
Homologs : HomoloGeneIDUA
Homology/Alignments : Family Browser (UCSC)IDUA
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIDUA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IDUA
dbVarIDUA
ClinVarIDUA
1000_GenomesIDUA 
Exome Variant ServerIDUA
ExAC (Exome Aggregation Consortium)IDUA (select the gene name)
Genetic variants : HAPMAP3425
Genomic Variants (DGV)IDUA [DGVbeta]
DECIPHERIDUA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIDUA 
Mutations
ICGC Data PortalIDUA 
TCGA Data PortalIDUA 
Broad Tumor PortalIDUA
OASIS PortalIDUA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIDUA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIDUA
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 IDUA
DgiDB (Drug Gene Interaction Database)IDUA
DoCM (Curated mutations)IDUA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IDUA (select a term)
intoGenIDUA
Cancer3DIDUA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252800    607014    607015    607016   
Orphanet12382    12383    12381   
MedgenIDUA
Genetic Testing Registry IDUA
NextProtP35475 [Medical]
TSGene3425
GENETestsIDUA
Target ValidationIDUA
Huge Navigator IDUA [HugePedia]
snp3D : Map Gene to Disease3425
BioCentury BCIQIDUA
ClinGenIDUA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3425
Chemical/Pharm GKB GenePA29638
Clinical trialIDUA
Miscellaneous
canSAR (ICR)IDUA (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIDUA
EVEXIDUA
GoPubMedIDUA
iHOPIDUA
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 15:53:07 CEST 2017

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