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IMPDH1 (IMP (inosine 5'-monophosphate) dehydrogenase 1)

Identity

Alias_namesRP10
retinitis pigmentosa 10 (autosomal dominant)
IMP (inosine 5'-monophosphate) dehydrogenase 1
Alias_symbol (synonym)sWSS2608
LCA11
HGNC (Hugo) IMPDH1
LocusID (NCBI) 3614
Atlas_Id 43316
Location 7q32.1  [Link to chromosome band 7q32]
Location_base_pair Starts at 128032331 and ends at 128050036 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CDV3 (3q22.1) / IMPDH1 (7q32.1)

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)IMPDH1   6052
Cards
Entrez_Gene (NCBI)IMPDH1  3614  IMP (inosine 5'-monophosphate) dehydrogenase 1
AliasesIMPD; IMPD1; IMPDH-I; LCA11; 
RP10; sWSS2608
GeneCards (Weizmann)IMPDH1
Ensembl hg19 (Hinxton)ENSG00000106348 [Gene_View]  chr7:128032331-128050036 [Contig_View]  IMPDH1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000106348 [Gene_View]  chr7:128032331-128050036 [Contig_View]  IMPDH1 [Vega]
ICGC DataPortalENSG00000106348
TCGA cBioPortalIMPDH1
AceView (NCBI)IMPDH1
Genatlas (Paris)IMPDH1
WikiGenes3614
SOURCE (Princeton)IMPDH1
Genetics Home Reference (NIH)IMPDH1
Genomic and cartography
GoldenPath hg19 (UCSC)IMPDH1  -     chr7:128032331-128050036 -  7q32.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)IMPDH1  -     7q32.1   [Description]    (hg38-Dec_2013)
EnsemblIMPDH1 - 7q32.1 [CytoView hg19]  IMPDH1 - 7q32.1 [CytoView hg38]
Mapping of homologs : NCBIIMPDH1 [Mapview hg19]  IMPDH1 [Mapview hg38]
OMIM146690   180105   613837   
Gene and transcription
Genbank (Entrez)AK054640 AK054667 AK092452 AK122994 AK131294
RefSeq transcript (Entrez)NM_000883 NM_001102605 NM_001142573 NM_001142574 NM_001142575 NM_001142576 NM_001304521 NM_183243
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_009194 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)IMPDH1
Cluster EST : UnigeneHs.654401 [ NCBI ]
CGAP (NCI)Hs.654401
Alternative Splicing GalleryENSG00000106348
Gene ExpressionIMPDH1 [ NCBI-GEO ]   IMPDH1 [ EBI - ARRAY_EXPRESS ]   IMPDH1 [ SEEK ]   IMPDH1 [ MEM ]
Gene Expression Viewer (FireBrowse)IMPDH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3614
GTEX Portal (Tissue expression)IMPDH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20839   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20839  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20839
Splice isoforms : SwissVarP20839
PhosPhoSitePlusP20839
Domaine pattern : Prosite (Expaxy)CBS (PS51371)    IMP_DH_GMP_RED (PS00487)   
Domains : Interpro (EBI)Aldolase_TIM    CBS_dom    IMP_DH    IMP_DH/GMP_Rdtase_CS    IMP_DH_GMPRt   
Domain families : Pfam (Sanger)CBS (PF00571)    IMPDH (PF00478)   
Domain families : Pfam (NCBI)pfam00571    pfam00478   
Domain families : Smart (EMBL)CBS (SM00116)  
Conserved Domain (NCBI)IMPDH1
DMDM Disease mutations3614
Blocks (Seattle)IMPDH1
PDB (SRS)1JCN   
PDB (PDBSum)1JCN   
PDB (IMB)1JCN   
PDB (RSDB)1JCN   
Structural Biology KnowledgeBase1JCN   
SCOP (Structural Classification of Proteins)1JCN   
CATH (Classification of proteins structures)1JCN   
SuperfamilyP20839
Human Protein AtlasENSG00000106348
Peptide AtlasP20839
HPRD08853
IPIIPI00916697   IPI00647813   IPI00644730   IPI00940243   IPI00856084   IPI00442268   IPI00375527   IPI00945155   IPI00916378   IPI00945952   IPI00945331   IPI00946122   IPI00945779   
Protein Interaction databases
DIP (DOE-UCLA)P20839
IntAct (EBI)P20839
FunCoupENSG00000106348
BioGRIDIMPDH1
STRING (EMBL)IMPDH1
ZODIACIMPDH1
Ontologies - Pathways
QuickGOP20839
Ontology : AmiGOnucleic acid binding  DNA binding  RNA binding  IMP dehydrogenase activity  nucleus  nucleoplasm  cytoplasm  cytosol  GMP biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  response to cold  cell junction  lymphocyte proliferation  metal ion binding  oxidation-reduction process  retina development in camera-type eye  
Ontology : EGO-EBInucleic acid binding  DNA binding  RNA binding  IMP dehydrogenase activity  nucleus  nucleoplasm  cytoplasm  cytosol  GMP biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  response to cold  cell junction  lymphocyte proliferation  metal ion binding  oxidation-reduction process  retina development in camera-type eye  
Pathways : KEGGPurine metabolism    Drug metabolism - other enzymes   
NDEx NetworkIMPDH1
Atlas of Cancer Signalling NetworkIMPDH1
Wikipedia pathwaysIMPDH1
Orthology - Evolution
OrthoDB3614
GeneTree (enSembl)ENSG00000106348
Phylogenetic Trees/Animal Genes : TreeFamIMPDH1
HOVERGENP20839
HOGENOMP20839
Homologs : HomoloGeneIMPDH1
Homology/Alignments : Family Browser (UCSC)IMPDH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIMPDH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IMPDH1
dbVarIMPDH1
ClinVarIMPDH1
1000_GenomesIMPDH1 
Exome Variant ServerIMPDH1
ExAC (Exome Aggregation Consortium)IMPDH1 (select the gene name)
Genetic variants : HAPMAP3614
Genomic Variants (DGV)IMPDH1 [DGVbeta]
DECIPHER (Syndromes)7:128032331-128050036  ENSG00000106348
CONAN: Copy Number AnalysisIMPDH1 
Mutations
ICGC Data PortalIMPDH1 
TCGA Data PortalIMPDH1 
Broad Tumor PortalIMPDH1
OASIS PortalIMPDH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIMPDH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIMPDH1
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch IMPDH1
DgiDB (Drug Gene Interaction Database)IMPDH1
DoCM (Curated mutations)IMPDH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IMPDH1 (select a term)
intoGenIMPDH1
Cancer3DIMPDH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM146690    180105    613837   
Orphanet659    3243   
MedgenIMPDH1
Genetic Testing Registry IMPDH1
NextProtP20839 [Medical]
TSGene3614
GENETestsIMPDH1
Huge Navigator IMPDH1 [HugePedia]
snp3D : Map Gene to Disease3614
BioCentury BCIQIMPDH1
ClinGenIMPDH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3614
Chemical/Pharm GKB GenePA29862
Clinical trialIMPDH1
Miscellaneous
canSAR (ICR)IMPDH1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIMPDH1
EVEXIMPDH1
GoPubMedIMPDH1
iHOPIMPDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:40:28 CET 2016

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