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

Identity

Other namesIMPD
IMPD1
LCA11
RP10
sWSS2608
HGNC (Hugo) IMPDH1
LocusID (NCBI) 3614
Location 7q32.1
Location_base_pair Starts at 128032331 and ends at 128050036 bp from pter ( according to hg19-Feb_2009)
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
GeneCards (Weizmann)IMPDH1
Ensembl (Hinxton)ENSG00000106348 [Gene_View]  chr7:128032331-128050036 [Contig_View]  IMPDH1 [Vega]
ICGC DataPortalENSG00000106348
cBioPortalIMPDH1
AceView (NCBI)IMPDH1
Genatlas (Paris)IMPDH1
WikiGenes3614
SOURCE (Princeton)NM_000883 NM_001102605 NM_001142573 NM_001142574 NM_001142575 NM_001142576 NM_183243
Genomic and cartography
GoldenPath (UCSC)IMPDH1  -  7q32.1   chr7:128032331-128050036 -  7q32.1   [Description]    (hg19-Feb_2009)
EnsemblIMPDH1 - 7q32.1 [CytoView]
Mapping of homologs : NCBIIMPDH1 [Mapview]
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_183243
RefSeq genomic (Entrez)AC_000139 NC_000007 NC_018918 NG_009194 NT_007933 NW_001839071 NW_004929332
Consensus coding sequences : CCDS (NCBI)IMPDH1
Cluster EST : UnigeneHs.654401 [ NCBI ]
CGAP (NCI)Hs.654401
Alternative Splicing : Fast-db (Paris)GSHG0028561
Alternative Splicing GalleryENSG00000106348
Gene ExpressionIMPDH1 [ NCBI-GEO ]     IMPDH1 [ SEEK ]   IMPDH1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20839 (Uniprot)
NextProtP20839  [Medical]
With graphics : InterProP20839
Splice isoforms : SwissVarP20839 (Swissvar)
Catalytic activity : Enzyme1.1.1.205 [ Enzyme-Expasy ]   1.1.1.2051.1.1.205 [ IntEnz-EBI ]   1.1.1.205 [ BRENDA ]   1.1.1.205 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CBS (PS51371)    IMP_DH_GMP_RED (PS00487)   
Domains : Interpro (EBI)Aldolase_TIM [organisation]   CBS_dom [organisation]   IMP_DH [organisation]   IMP_DH/GMP_Rdtase_CS [organisation]   IMP_DH_GMPRt [organisation]  
Related proteins : CluSTrP20839
Domain families : Pfam (Sanger)CBS (PF00571)    IMPDH (PF00478)   
Domain families : Pfam (NCBI)pfam00571    pfam00478   
Domain families : Smart (EMBL)CBS (SM00116)  
DMDM Disease mutations3614
Blocks (Seattle)P20839
PDB (SRS)1JCN   
PDB (PDBSum)1JCN   
PDB (IMB)1JCN   
PDB (RSDB)1JCN   
Human Protein AtlasENSG00000106348 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP20839
Interologous Interaction database P20839
IntegromeDBIMPDH1
STRING (EMBL)IMPDH1
Ontologies - Pathways
Ontology : AmiGOnucleic acid binding  DNA binding  RNA binding  IMP dehydrogenase activity  nucleus  cytoplasm  cytosol  purine nucleobase metabolic process  GMP biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  adenyl nucleotide binding  small molecule metabolic process  lymphocyte proliferation  metal ion binding  nucleobase-containing small molecule metabolic process  oxidation-reduction process  
Ontology : EGO-EBInucleic acid binding  DNA binding  RNA binding  IMP dehydrogenase activity  nucleus  cytoplasm  cytosol  purine nucleobase metabolic process  GMP biosynthetic process  purine ribonucleoside monophosphate biosynthetic process  adenyl nucleotide binding  small molecule metabolic process  lymphocyte proliferation  metal ion binding  nucleobase-containing small molecule metabolic process  oxidation-reduction process  
Pathways : KEGGPurine metabolism    Drug metabolism - other enzymes   
Protein Interaction DatabaseIMPDH1
Wikipedia pathwaysIMPDH1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)IMPDH1
snp3D : Map Gene to Disease3614
SNP (GeneSNP Utah)IMPDH1
SNP : HGBaseIMPDH1
Genetic variants : HAPMAPIMPDH1
Exome VariantIMPDH1
1000_GenomesIMPDH1 
ICGC programENSG00000106348 
Somatic Mutations in Cancer : COSMICIMPDH1 
CONAN: Copy Number AnalysisIMPDH1 
Mutations and Diseases : HGMDIMPDH1
Mutations and Diseases : intOGenIMPDH1
Genomic VariantsIMPDH1  IMPDH1 [DGVbeta]
dbVarIMPDH1
ClinVarIMPDH1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM146690    180105    613837   
MedgenIMPDH1
GENETestsIMPDH1
Disease Genetic AssociationIMPDH1
Huge Navigator IMPDH1 [HugePedia]  IMPDH1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneIMPDH1
Homology/Alignments : Family Browser (UCSC)IMPDH1
Phylogenetic Trees/Animal Genes : TreeFamIMPDH1
Chemical/Protein Interactions : CTD3614
Chemical/Pharm GKB GenePA29862
Clinical trialIMPDH1
Cancer Resource (Charite)ENSG00000106348
Other databases
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
CoreMineIMPDH1
iHOPIMPDH1
OncoSearchIMPDH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:56:53 CEST 2014

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