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AMPD3 (adenosine monophosphate deaminase 3)

Identity

Alias_namesadenosine monophosphate deaminase (isoform E)
Other alias-
HGNC (Hugo) AMPD3
LocusID (NCBI) 272
Atlas_Id 43120
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 10472224 and ends at 10529126 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AMPD3 (11p15.4) / IER3 (6p21.33)AMPD3 (11p15.4) / MAN1B1 (9q34.3)AMPD3 (11p15.4) / PTMS (12p13.31)
CLEC18A (16q22.1) / AMPD3 (11p15.4)

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)AMPD3   470
Cards
Entrez_Gene (NCBI)AMPD3  272  adenosine monophosphate deaminase 3
Aliases
GeneCards (Weizmann)AMPD3
Ensembl hg19 (Hinxton)ENSG00000133805 [Gene_View]  chr11:10472224-10529126 [Contig_View]  AMPD3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000133805 [Gene_View]  chr11:10472224-10529126 [Contig_View]  AMPD3 [Vega]
ICGC DataPortalENSG00000133805
TCGA cBioPortalAMPD3
AceView (NCBI)AMPD3
Genatlas (Paris)AMPD3
WikiGenes272
SOURCE (Princeton)AMPD3
Genetics Home Reference (NIH)AMPD3
Genomic and cartography
GoldenPath hg19 (UCSC)AMPD3  -     chr11:10472224-10529126 +  11p15.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AMPD3  -     11p15.4   [Description]    (hg38-Dec_2013)
EnsemblAMPD3 - 11p15.4 [CytoView hg19]  AMPD3 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBIAMPD3 [Mapview hg19]  AMPD3 [Mapview hg38]
OMIM102772   612874   
Gene and transcription
Genbank (Entrez)AK289998 AK294444 AK295046 AK299113 AK301507
RefSeq transcript (Entrez)NM_000480 NM_001025389 NM_001025390 NM_001172430 NM_001172431
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_012041 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)AMPD3
Cluster EST : UnigeneHs.501890 [ NCBI ]
CGAP (NCI)Hs.501890
Alternative Splicing GalleryENSG00000133805
Gene ExpressionAMPD3 [ NCBI-GEO ]   AMPD3 [ EBI - ARRAY_EXPRESS ]   AMPD3 [ SEEK ]   AMPD3 [ MEM ]
Gene Expression Viewer (FireBrowse)AMPD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)272
GTEX Portal (Tissue expression)AMPD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01432   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01432  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01432
Splice isoforms : SwissVarQ01432
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 ]   
PhosPhoSitePlusQ01432
Domaine pattern : Prosite (Expaxy)A_DEAMINASE (PS00485)   
Domains : Interpro (EBI)A/AMP_deam_AS    A/AMP_deaminase_dom    AMPD    AMPD3    Metal_Hydrolase   
Domain families : Pfam (Sanger)A_deaminase (PF00962)   
Domain families : Pfam (NCBI)pfam00962   
Conserved Domain (NCBI)AMPD3
DMDM Disease mutations272
Blocks (Seattle)AMPD3
SuperfamilyQ01432
Human Protein AtlasENSG00000133805
Peptide AtlasQ01432
HPRD00041
IPIIPI00300573   IPI00956138   IPI01010843   IPI00980378   IPI00978878   IPI00977598   IPI00619970   IPI00979714   IPI00978174   IPI00980892   
Protein Interaction databases
DIP (DOE-UCLA)Q01432
IntAct (EBI)Q01432
FunCoupENSG00000133805
BioGRIDAMPD3
STRING (EMBL)AMPD3
ZODIACAMPD3
Ontologies - Pathways
QuickGOQ01432
Ontology : AmiGOAMP deaminase activity  cytosol  AMP catabolic process  IMP salvage  erythrocyte homeostasis  purine-containing compound salvage  ADP metabolic process  ATP metabolic process  GTP metabolic process  metal ion binding  energy homeostasis  
Ontology : EGO-EBIAMP deaminase activity  cytosol  AMP catabolic process  IMP salvage  erythrocyte homeostasis  purine-containing compound salvage  ADP metabolic process  ATP metabolic process  GTP metabolic process  metal ion binding  energy homeostasis  
Pathways : KEGGPurine metabolism   
NDEx NetworkAMPD3
Atlas of Cancer Signalling NetworkAMPD3
Wikipedia pathwaysAMPD3
Orthology - Evolution
OrthoDB272
GeneTree (enSembl)ENSG00000133805
Phylogenetic Trees/Animal Genes : TreeFamAMPD3
HOVERGENQ01432
HOGENOMQ01432
Homologs : HomoloGeneAMPD3
Homology/Alignments : Family Browser (UCSC)AMPD3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMPD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMPD3
dbVarAMPD3
ClinVarAMPD3
1000_GenomesAMPD3 
Exome Variant ServerAMPD3
ExAC (Exome Aggregation Consortium)AMPD3 (select the gene name)
Genetic variants : HAPMAP272
Genomic Variants (DGV)AMPD3 [DGVbeta]
DECIPHER (Syndromes)11:10472224-10529126  ENSG00000133805
CONAN: Copy Number AnalysisAMPD3 
Mutations
ICGC Data PortalAMPD3 
TCGA Data PortalAMPD3 
Broad Tumor PortalAMPD3
OASIS PortalAMPD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMPD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMPD3
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 AMPD3
DgiDB (Drug Gene Interaction Database)AMPD3
DoCM (Curated mutations)AMPD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMPD3 (select a term)
intoGenAMPD3
Cancer3DAMPD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM102772    612874   
Orphanet458   
MedgenAMPD3
Genetic Testing Registry AMPD3
NextProtQ01432 [Medical]
TSGene272
GENETestsAMPD3
Huge Navigator AMPD3 [HugePedia]
snp3D : Map Gene to Disease272
BioCentury BCIQAMPD3
ClinGenAMPD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD272
Chemical/Pharm GKB GenePA24778
Clinical trialAMPD3
Miscellaneous
canSAR (ICR)AMPD3 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMPD3
EVEXAMPD3
GoPubMedAMPD3
iHOPAMPD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:19 CEST 2017

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