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AMPD1 (adenosine monophosphate deaminase 1)

Identity

Other namesMAD
MADA
MMDD
HGNC (Hugo) AMPD1
LocusID (NCBI) 270
Atlas_Id 43118
Location 1p13.2  [Link to chromosome band 1p13]
Location_base_pair Starts at 115215720 and ends at 115238239 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AMPD1 (1p13.2) / FYTTD1 (3q29)DENND2C (1p13.2) / AMPD1 (1p13.2)TFIP11 (22q12.1) / AMPD1 (1p13.2)
DENND2C 1p13.2 / AMPD1 1p13.2TFIP11 22q12.1 / AMPD1 1p13.2

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
AliasesMAD; MADA; MMDD
GeneCards (Weizmann)AMPD1
Ensembl hg19 (Hinxton)ENSG00000116748 [Gene_View]  chr1:115215720-115238239 [Contig_View]  AMPD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000116748 [Gene_View]  chr1:115215720-115238239 [Contig_View]  AMPD1 [Vega]
ICGC DataPortalENSG00000116748
TCGA cBioPortalAMPD1
AceView (NCBI)AMPD1
Genatlas (Paris)AMPD1
WikiGenes270
SOURCE (Princeton)AMPD1
Genomic and cartography
GoldenPath hg19 (UCSC)AMPD1  -     chr1:115215720-115238239 -  1p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AMPD1  -     1p13.2   [Description]    (hg38-Dec_2013)
EnsemblAMPD1 - 1p13.2 [CytoView hg19]  AMPD1 - 1p13.2 [CytoView hg38]
Mapping of homologs : NCBIAMPD1 [Mapview hg19]  AMPD1 [Mapview hg38]
OMIM102770   615511   
Gene and transcription
Genbank (Entrez)AA086476 AK097077 AK291349 AK314252 BC056678
RefSeq transcript (Entrez)NM_000036 NM_001172626
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008012 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)AMPD1
Cluster EST : UnigeneHs.89570 [ NCBI ]
CGAP (NCI)Hs.89570
Alternative Splicing GalleryENSG00000116748
Gene ExpressionAMPD1 [ NCBI-GEO ]   AMPD1 [ EBI - ARRAY_EXPRESS ]   AMPD1 [ SEEK ]   AMPD1 [ MEM ]
Gene Expression Viewer (FireBrowse)AMPD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)270
GTEX Portal (Tissue expression)AMPD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23109 (Uniprot)
NextProtP23109  [Sequence]  [Exons]  [Medical]  [Publications]
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 ]   
PhosPhoSitePlusP23109
Domaine pattern : Prosite (Expaxy)A_DEAMINASE (PS00485)   
Domains : Interpro (EBI)A/AMP_deam_AS    A/AMP_deaminase_dom    AMPD    AMPD1    Metal_Hydrolase   
Domain families : Pfam (Sanger)A_deaminase (PF00962)   
Domain families : Pfam (NCBI)pfam00962   
DMDM Disease mutations270
Blocks (Seattle)AMPD1
SuperfamilyP23109
Human Protein AtlasENSG00000116748
Peptide AtlasP23109
HPRD00040
IPIIPI00185631   IPI00980902   IPI00955989   IPI00984228   
Protein Interaction databases
DIP (DOE-UCLA)P23109
IntAct (EBI)P23109
FunCoupENSG00000116748
BioGRIDAMPD1
STRING (EMBL)AMPD1
ZODIACAMPD1
Ontologies - Pathways
QuickGOP23109
Ontology : AmiGOAMP deaminase activity  cytosol  response to organic substance  myosin heavy chain binding  IMP salvage  purine-containing compound salvage  metal ion binding  
Ontology : EGO-EBIAMP deaminase activity  cytosol  response to organic substance  myosin heavy chain binding  IMP salvage  purine-containing compound salvage  metal ion binding  
Pathways : KEGGPurine metabolism   
NDEx NetworkAMPD1
Atlas of Cancer Signalling NetworkAMPD1
Wikipedia pathwaysAMPD1
Orthology - Evolution
OrthoDB270
GeneTree (enSembl)ENSG00000116748
Phylogenetic Trees/Animal Genes : TreeFamAMPD1
Homologs : HomoloGeneAMPD1
Homology/Alignments : Family Browser (UCSC)AMPD1
Gene fusions - Rearrangements
Fusion: TCGADENND2C 1p13.2 AMPD1 1p13.2 BRCA
Fusion: TCGATFIP11 22q12.1 AMPD1 1p13.2 LUSC
Polymorphisms : SNP, variants
NCBI Variation ViewerAMPD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMPD1
dbVarAMPD1
ClinVarAMPD1
1000_GenomesAMPD1 
Exome Variant ServerAMPD1
ExAC (Exome Aggregation Consortium)AMPD1 (select the gene name)
Genetic variants : HAPMAP270
Genomic Variants (DGV)AMPD1 [DGVbeta]
Mutations
ICGC Data PortalAMPD1 
TCGA Data PortalAMPD1 
Broad Tumor PortalAMPD1
OASIS PortalAMPD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMPD1 
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
BioMutasearch AMPD1
DgiDB (Drug Gene Interaction Database)AMPD1
DoCM (Curated mutations)AMPD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMPD1 (select a term)
intoGenAMPD1
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:115215720-115238239  ENSG00000116748
CONAN: Copy Number AnalysisAMPD1 
Mutations and Diseases : HGMDAMPD1
OMIM102770    615511   
MedgenAMPD1
Genetic Testing Registry AMPD1
NextProtP23109 [Medical]
TSGene270
GENETestsAMPD1
Huge Navigator AMPD1 [HugePedia]
snp3D : Map Gene to Disease270
BioCentury BCIQAMPD1
ClinGenAMPD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD270
Chemical/Pharm GKB GenePA24776
Clinical trialAMPD1
Miscellaneous
canSAR (ICR)AMPD1 (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMPD1
EVEXAMPD1
GoPubMedAMPD1
iHOPAMPD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:36:25 CEST 2016

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