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AMPD1 (adenosine monophosphate deaminase 1)

Identity

Other namesMAD
MADA
MMDD
HGNC (Hugo) AMPD1
LocusID (NCBI) 270
Location 1p13.2
Location_base_pair Starts at 115215720 and ends at 115238239 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)AMPD1   468
Cards
Entrez_Gene (NCBI)AMPD1  270  adenosine monophosphate deaminase 1
GeneCards (Weizmann)AMPD1
Ensembl (Hinxton)ENSG00000116748 [Gene_View]  chr1:115215720-115238239 [Contig_View]  AMPD1 [Vega]
ICGC DataPortalENSG00000116748
cBioPortalAMPD1
AceView (NCBI)AMPD1
Genatlas (Paris)AMPD1
WikiGenes270
SOURCE (Princeton)NM_000036 NM_001172626
Genomic and cartography
GoldenPath (UCSC)AMPD1  -  1p13.2   chr1:115215720-115238239 -  1p13.2   [Description]    (hg19-Feb_2009)
EnsemblAMPD1 - 1p13.2 [CytoView]
Mapping of homologs : NCBIAMPD1 [Mapview]
OMIM102770   
Gene and transcription
Genbank (Entrez)AA086476 AK097077 AK291349 AK314252 BC056678
RefSeq transcript (Entrez)NM_000036 NM_001172626
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_008012 NT_032977 NW_001838594 NW_004929290
Consensus coding sequences : CCDS (NCBI)AMPD1
Cluster EST : UnigeneHs.89570 [ NCBI ]
CGAP (NCI)Hs.89570
Alternative Splicing : Fast-db (Paris)GSHG0002383
Alternative Splicing GalleryENSG00000116748
Gene ExpressionAMPD1 [ NCBI-GEO ]     AMPD1 [ SEEK ]   AMPD1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23109 (Uniprot)
NextProtP23109  [Medical]
With graphics : InterProP23109
Splice isoforms : SwissVarP23109 (Swissvar)
Catalytic activity : Enzyme3.5.4.6 [ Enzyme-Expasy ]   3.5.4.63.5.4.6 [ IntEnz-EBI ]   3.5.4.6 [ BRENDA ]   3.5.4.6 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)A_DEAMINASE (PS00485)   
Domains : Interpro (EBI)A/AMP_deam_AS [organisation]   A/AMP_deaminase_dom [organisation]   AMP_deaminase [organisation]  
Related proteins : CluSTrP23109
Domain families : Pfam (Sanger)A_deaminase (PF00962)   
Domain families : Pfam (NCBI)pfam00962   
DMDM Disease mutations270
Blocks (Seattle)P23109
Human Protein AtlasENSG00000116748 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP23109
HPRD00040
IPIIPI00185631   IPI00980902   IPI00955989   IPI00984228   
Protein Interaction databases
DIP (DOE-UCLA)P23109
IntAct (EBI)P23109
FunCoupENSG00000116748
BioGRIDAMPD1
InParanoidP23109
Interologous Interaction database P23109
IntegromeDBAMPD1
STRING (EMBL)AMPD1
Ontologies - Pathways
Ontology : AmiGOAMP deaminase activity  cytosol  purine nucleobase metabolic process  response to organic substance  myosin heavy chain binding  IMP salvage  purine-containing compound salvage  small molecule metabolic process  metal ion binding  nucleobase-containing small molecule metabolic process  
Ontology : EGO-EBIAMP deaminase activity  cytosol  purine nucleobase metabolic process  response to organic substance  myosin heavy chain binding  IMP salvage  purine-containing compound salvage  small molecule metabolic process  metal ion binding  nucleobase-containing small molecule metabolic process  
Pathways : KEGGPurine metabolism   
Protein Interaction DatabaseAMPD1
Wikipedia pathwaysAMPD1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)AMPD1
snp3D : Map Gene to Disease270
SNP (GeneSNP Utah)AMPD1
SNP : HGBaseAMPD1
Genetic variants : HAPMAPAMPD1
Exome VariantAMPD1
1000_GenomesAMPD1 
ICGC programENSG00000116748 
Somatic Mutations in Cancer : COSMICAMPD1 
CONAN: Copy Number AnalysisAMPD1 
Mutations and Diseases : HGMDAMPD1
Genomic VariantsAMPD1  AMPD1 [DGVbeta]
dbVarAMPD1
ClinVarAMPD1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM102770   
MedgenAMPD1
GENETestsAMPD1
Disease Genetic AssociationAMPD1
Huge Navigator AMPD1 [HugePedia]  AMPD1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneAMPD1
Homology/Alignments : Family Browser (UCSC)AMPD1
Phylogenetic Trees/Animal Genes : TreeFamAMPD1
Chemical/Protein Interactions : CTD270
Chemical/Pharm GKB GenePA24776
Clinical trialAMPD1
Cancer Resource (Charite)ENSG00000116748
Other databases
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
CoreMineAMPD1
iHOPAMPD1
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 : Fri Jul 11 16:43:41 CEST 2014

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