Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMPD3 Gene

protein-coding   GIFtS: 62
GCID: GC11P010329

Adenosine Monophosphate Deaminase 3

(Previous name: adenosine monophosphate deaminase (isoform E))
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Adenosine Monophosphate Deaminase 31 2     AMP Aminohydrolase2
Adenosine Monophosphate Deaminase (Isoform E)1 2     AMP Deaminase 32
Erythrocyte-Specific AMP Deaminase1 2     Erythrocyte Type AMP Deaminase2
Erythrocyte AMP Deaminase2 3     Myoadenylate Deaminase2
EC 3.5.4.63 8     AMP Deaminase Isoform E3

External Ids:    HGNC: 4701   Entrez Gene: 2722   Ensembl: ENSG000001338057   OMIM: 1027725   UniProtKB: Q014323   

Export aliases for AMPD3 gene to outside databases

Previous GC identifers: GC11P011483 GC11P011042 GC11P010511 GC11P010436 GC11P010428 GC11P010144


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AMPD3 Gene:
This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that
catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the
adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode
isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically
asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced
transcript variants encoding different isoforms of this gene have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for AMPD3 Gene: 
AMPD3 (adenosine monophosphate deaminase 3) is a protein-coding gene. Diseases associated with AMPD3 include erythrocyte amp deaminase deficiency, and amp deaminase deficiency, erythrocytic, and among its related super-pathways are Metabolic pathways and Purine metabolism. GO annotations related to this gene include AMP deaminase activity and metal ion binding. An important paralog of this gene is AMPD1.

UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432
Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMPD3 gene promoter:
         Max1   MAZR   Lmo2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): AMPD3 promoter sequence
   Search SABiosciences Chromatin IP Primers for AMPD3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMPD3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15

AMPD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMPD3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P010329:  view genomic region     (about GC identifiers)

Start:
10,329,860 bp from pter      End:
10,529,126 bp from pter
Size:
199,267 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432 (See protein sequence)
Recommended Name: AMP deaminase 3  
Size: 767 amino acids; 88812 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homotetramer
Secondary accessions: A0AUX0 B7Z2S2 B7Z763 B7Z877
Alternative splicing: 6 isoforms:  Q01432-1   Q01432-2   Q01432-3   Q01432-4   Q01432-5   Q01432-6   

Explore the universe of human proteins at neXtProt for AMPD3: NX_Q01432

Explore proteomics data for AMPD3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01432

  • 4/5 DME Specific Peptides for AMPD3 (Q01432) (see all 5)
     PHRDFYN  QFHYTKE  RPHCGEAG  TFHRFDKFN 

    AMPD3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AMPD3 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000471.1  NP_001020560.1  NP_001020561.1  NP_001165901.1  NP_001165902.1  

    ENSEMBL proteins: 
     ENSP00000432707   ENSP00000379802   ENSP00000433284   ENSP00000433937   ENSP00000379801  
     ENSP00000435382   ENSP00000436987   ENSP00000431648   ENSP00000433351   ENSP00000434608  
     ENSP00000396000  
    Reactome Protein details: Q01432
    Human Recombinant Protein Products for AMPD3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for AMPD3
    OriGene Protein Over-expression Lysate for AMPD3
    OriGene MassSpec for AMPD3 
    OriGene Custom Protein Services for AMPD3
    GenScript Custom Purified and Recombinant Proteins Services for AMPD3
    Novus Biologicals AMPD3 Protein
    Novus Biologicals AMPD3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AMPD3 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    AMPD3 for ontologies           About GeneDecksing



    AMPD3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AMPD3
    GenScript Custom Superior Antibodies Services for AMPD3
    Novus Biologicals AMPD3 Antibodies
    Abcam antibodies for AMPD3
    Cloud-Clone Corp. Antibodies for AMPD3 
    ThermoFisher Antibodies for AMPD3
    LSBio Antibodies in human, mouse, rat for AMPD3 

    Assay Products for AMPD3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AMPD3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AMPD3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AMPD3 
    Cloud-Clone Corp. CLIAs for AMPD3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR001365 A/AMP_deaminase_dom
     IPR006329 AMP_deaminase
     IPR006650 A/AMP_deam_AS

    Graphical View of Domain Structure for InterPro Entry Q01432

    ProtoNet protein and cluster: Q01432

    1 Blocks protein domain: IPB006650 Adenosine/AMP deaminase active site

    UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432
    Similarity: Belongs to the adenosine and AMP deaminases family


    AMPD3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMPD3_HUMAN, Q01432
    Function: AMP deaminase plays a critical role in energy metabolism
    Catalytic activity: AMP + H(2)O = IMP + NH(3)

         Enzyme Number (IUBMB): EC 3.5.4.61 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003876AMP deaminase activity IEA--
    GO:0019239deaminase activity ----
    GO:0046872metal ion binding IEA--
         
    AMPD3 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ampd3):
     hematopoietic system  immune system  skeleton 

    AMPD3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AMPD3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AMPD3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMPD3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AMPD3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMPD3
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate AMPD3 (see all 29):
    hsa-miR-3910 hsa-miR-485-5p hsa-miR-3194-5p hsa-miR-513a-5p hsa-miR-106a hsa-miR-628-3p hsa-miR-3923 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidAMPD3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AMPD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AMPD3
    Sirion Biotech Customized adenovirus for overexpression of AMPD3

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for AMPD3 (see all 23)
    OriGene ORF clones in mouse, rat for AMPD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): AMPD3 (NM_000480)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD3
    Sirion Biotech Customized lentivirus for stable overexpression of AMPD3 
                         Customized lentivirus expression plasmids for stable overexpression of AMPD3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AMPD3
    Search LifeMap BioReagents cell lines for AMPD3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD3


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AMPD3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Purine metabolism
    Purine metabolism0.38
    ATP/ITP metabolism0.31
    3Purine metabolism
    Purine metabolism0.42
    Purine salvage0.39
    Metabolism of nucleotides0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for AMPD3
        ATP/ITP metabolism


    1 GeneGo (Thomson Reuters) Pathway for AMPD3
        ATP/ITP metabolism

    4        Reactome Pathways for AMPD3
        Metabolism of nucleotides
    Metabolism
    Purine salvage
    Purine metabolism


    2         Kegg Pathways  (Kegg details for AMPD3):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432
    Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1


    AMPD3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMPD3

    1 Interacting protein for AMPD3 (Q014323) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALBP027683I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006188IMP biosynthetic process ----
    GO:0006196AMP catabolic process TAS9291127
    GO:0009168purine ribonucleoside monophosphate biosynthetic process ----
    GO:0032264IMP salvage IEA--

    AMPD3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AMPD3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AMPD3

    5 HMDB Compounds for AMPD3    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    AmmoniaNH3 (see all 31)7664-41-7--
    Inosinic acid5'-IMP (see all 9)131-99-7--
    PropranololDociton (see all 8)525-66-6--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    10/46 Novoseek inferred chemical compound relationships for AMPD3 gene (see all 46)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ampd 96 30 8476935 (2), 10464307 (2), 11028479 (1), 11444869 (1) (see all 26)
    coformycin 88.2 5 8426365 (1), 10780907 (1), 18242582 (1), 10766176 (1) (see all 5)
    ddamp 84.4 1 1540653 (1)
    inosine monophosphate 77.2 14 17384464 (4), 1914440 (1), 8903844 (1), 17174234 (1) (see all 9)
    adenylosuccinate 73.2 6 8054268 (1), 9486871 (1), 1529104 (1), 1540653 (1)
    adenylate 73 51 8394393 (5), 10996775 (3), 9880040 (2), 16314416 (2) (see all 35)
    purine 69.2 10 15955461 (1), 18409530 (1), 1529104 (1), 7599155 (1) (see all 10)
    2',3'-dideoxyadenosine 66.4 1 1540653 (1)
    hypoxanthine 66.3 7 8054268 (1), 11168788 (1), 2288993 (1), 8327372 (1) (see all 7)
    orthophosphate 65.5 5 14577611 (1), 2015270 (1), 10545153 (1), 15532716 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about AMPD3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AMPD3 gene (5 alternative transcripts): 
    NM_000480.2  NM_001025389.1  NM_001025390.1  NM_001172430.1  NM_001172431.1  

    Unigene Cluster for AMPD3:

    Adenosine monophosphate deaminase 3
    Hs.501890  [show with all ESTs]
    Unigene Representative Sequence: NM_001025390
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000527261 ENST00000532250 ENST00000295663(uc009yfv.1) ENST00000532966
    ENST00000527369 ENST00000529835 ENST00000396554(uc001min.1 uc009yfw.1)
    ENST00000524866(uc009yfx.1) ENST00000534047 ENST00000396553 ENST00000529834
    ENST00000528723 ENST00000529507 ENST00000531227 ENST00000533116 ENST00000530864
    ENST00000529744 ENST00000444303(uc010rbz.1 uc001mio.1 uc009yfz.2 uc001mip.1 uc009yfy.2)


    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMPD3
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate AMPD3 (see all 29):
    hsa-miR-3910 hsa-miR-485-5p hsa-miR-3194-5p hsa-miR-513a-5p hsa-miR-106a hsa-miR-628-3p hsa-miR-3923 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidAMPD3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AMPD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD3
    Clone
    Products:
         
    OriGene clones in human, mouse for AMPD3 (see all 23)
    OriGene ORF clones in mouse, rat for AMPD3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): AMPD3 (NM_000480)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPD3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD3
    Sirion Biotech Customized lentivirus for stable overexpression of AMPD3 
                         Customized lentivirus expression plasmids for stable overexpression of AMPD3 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AMPD3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMPD3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPD3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPD3

    Additional mRNA sequence: 

    AK289998.1 AK294444.1 AK295046.1 AK299113.1 AK301507.1 AK302970.1 AK308181.1 AK311279.1 
    AK311436.1 AK311607.1 AK311711.1 AK313039.1 BC126118.1 D12775.1 M84720.1 M84721.1 
    M84722.1 

    11 DOTS entries:

    DT.447603  DT.91775680  DT.100784934  DT.120712934  DT.75101190  DT.91748072  DT.91775683  DT.91775674 
    DT.95294501  DT.95193511  DT.95287493 

    24/186 AceView cDNA sequences (see all 186):

    T29128 AW298461 CD608601 BX343894 BX104911 AA362222 BX483124 CA775423 
    BX489285 AI216587 BQ772957 AI690159 BM723099 AL547924 AW139868 AI690034 
    M84722 BF055506 CR626009 BU622569 BQ002678 AA890491 BE467861 AI814994 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMPD3 expression in normal human tissues (normalized intensities)      AMPD3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATACTTTAG
    AMPD3 Expression
    About this image


    AMPD3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Thyroid (Endocrine System)
             parathyroid gland   
     
     Heart (Cardiovascular System)
             heart/ventricle   
     
     Brain (Nervous System)
             ganglion/cranial   
     
     Peripheral Nervous System (Nervous System)

    See AMPD3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMPD3

    SOURCE GeneReport for Unigene cluster: Hs.501890

    UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432
    Tissue specificity: Isoform 1 is the predominant form in skeletal muscle; Isoform 2 predominates in smooth muscle,
    non-muscle tissue, embryonic muscle and undifferentiated myoblasts; Isoform 3 is found in erythrocytes

        SABiosciences Custom PCR Arrays for AMPD3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AMPD3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMPD3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPD3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPD3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AMPD3 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ampd31 , 5 adenosine monophosphate deaminase 31, 5 88.32(n)1
    94.64(a)1
      7 (57.85 cM)5
    117171  NM_009667.21  NP_033797.21 
     1107682065 
    chicken
    (Gallus gallus)
    Aves AMPD31 adenosine monophosphate deaminase 3 75.14(n)
    85.85(a)
      423041  NM_001199588.1  NP_001186517.1 
    lizard
    (Anolis carolinensis)
    Reptilia AMPD36
    adenosine monophosphate deaminase 3
    76(a)
    1 ↔ 1
    1(63536981-63583088)
    zebrafish
    (Danio rerio)
    Actinopterygii wufi25h102 wufi25h10 76.82(n)   333997  BC044154.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG326266
    --
    45(a)
    1 → many
    X(13724774-13739894)
    worm
    (Caenorhabditis elegans)
    Secernentea C34F11.3a3 AMP deaminase 53(a)
    (best of 2)
      II(5202470-5209649)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AMD16
    AMP deaminase, tetrameric enzyme that catalyzes th...
    37(a)
    1 → many
    XIII(206428-208860)
    barley
    (Hordeum vulgare)
    Liliopsida Hv.67492 Transcribed sequence with moderate similarity to protein more 77.61(n)    AV926787.1 


    ENSEMBL Gene Tree for AMPD3 (if available)
    TreeFam Gene Tree for AMPD3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AMPD3 gene
    AMPD12  AMPD22  
    2 SIMAP similar genes for AMPD3 using alignment to 7 protein entries:     AMPD3_HUMAN (see all proteins):
    AMPD1    AMPD2

    AMPD3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1480 SNPs in AMPD3 are shown (see all 1480)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0426084
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426082 A V mis40--------
    VAR_0426154
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426152 Q P mis40--------
    VAR_0426144
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426142 P L mis40--------
    VAR_0426104
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426102 R C mis40--------
    VAR_0426114
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426112 R C mis40--------
    VAR_0426124
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426122 W R mis40--------
    VAR_0426094
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426092 M T mis40--------
    VAR_0426064
    Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4--see VAR_0426062 N K mis40--------
    rs1177067101,2,4
    C,FAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4 --10432978(+) ATAACG/TTGAGA 10 V L mis13Minor allele frequency- T:0.01NA EU 5993
    rs37410401,2,4
    C,F,HAdenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)4 pathogenic110445870(+) ACCTCC/TGCAGG 10 R C mis1 ese39Minor allele frequency- T:0.01EA NS NA 2160

    HapMap Linkage Disequilibrium report for AMPD3 (10329860 - 10529126 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AMPD3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv526453CNV Loss19592680
    nsv896990CNV Loss21882294
    nsv518705CNV Loss19592680
    nsv519987CNV Gain19592680


    Human Gene Mutation Database (HGMD): AMPD3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AMPD3
    DNA2.0 Custom Variant and Variant Library Synthesis for AMPD3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 102772   
    OMIM disorders: 612874  
    UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432
  • Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]: A metabolic disorder
    due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition
    characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete
    deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 15 diseases for AMPD3:    About MalaCards
    erythrocyte amp deaminase deficiency    amp deaminase deficiency, erythrocytic    adenosine monophosphate deaminase deficiency    hyperuricemia
    metabolic disorders    ischemia    myopathy    essential hypertension
    lung adenocarcinoma    hypertension    hypoxia    adenocarcinoma
    hepatocellular carcinoma    alzheimer's disease    endotheliitis


    AMPD3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 Novoseek inferred disease relationships for AMPD3 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    purine metabolism disorder 78.5 1 1912725 (1)
    phosphofructokinase deficiency 77.8 4 16670071 (2), 15807549 (1)
    mcardles disease 58.7 1 7580237 (1)
    myopathy 51.4 3 9211191 (1), 11408438 (1), 9834785 (1)
    hemolysis 18.8 1 10651804 (1)
    tumors 3.74 4 15077168 (1), 17384464 (1), 16078449 (1)
    heart failure 1.31 2 14499869 (1), 16021915 (1)
    ischemia 0 3 10330232 (2), 12504269 (1)
    renal failure chronic 0 2 2087906 (1)
    atrophy 0 1 10996775 (1)

    Genetic Association Database (GAD): AMPD3
    Human Genome Epidemiology (HuGE) Navigator: AMPD3 (1 document)

    Export disorders for AMPD3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AMPD3 gene, integrated from 9 sources (see all 173):
    (articles sorted by number of sources associating them with AMPD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PubMed id 1400401)1, 2, 3, 9 Mahnke-Zizelman D.K. and Sabina R.L. (1992)
    2. A rare case of complete human erythrocyte AMP deaminase deficiency due to two novel missense mutations in AMPD3. (PubMed id 11139257)1, 2, 9 Yamada Y.... Ogasawara N. (2001)
    3. A point mutation responsible for human erythrocyte AMP deaminase deficiency. (PubMed id 8004104)1, 2, 9 Yamada Y.... Ogasawara N. (1994)
    4. Characterization of the human AMPD3 gene reveals that 5' exon useage is subject to transcriptional control by three tandem promoters and alternative splicing. (PubMed id 8611627)1, 2, 9 Mahnke-Zizelman D.K.... Sabina R.L. (1996)
    5. Cloning and nucleotide sequence of the cDNA encoding human erythrocyte-specific AMP deaminase. (PubMed id 1420359)1, 2, 9 Yamada Y.... Ogasawara N. (1992)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    7. Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. (PubMed id 7881427)1, 2 Yamada Y....Ogasawara N. (1994)
    8. Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide. (PubMed id 15807549)1, 9 Mahnke D.K. and Sabina R.L. (2005)
    9. Regulation of rat AMP deaminase 3 (isoform C) by development and skeletal muscle fibre type. (PubMed id 9291127)1, 9 Mahnke-Zizelman D.K....Sabina R.L. (1997)
    10. Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC). (PubMed id 18493842)1, 9 Szydl/owska M. and Roszkowska A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 272 HGNC: 470 AceView: AMPD3 Ensembl:ENSG00000133805 euGenes: HUgn272
    ECgene: AMPD3 Kegg: 272 H-InvDB: AMPD3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMPD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AMPD3 gene:
    Search GeneIP for patents involving AMPD3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AMPD3  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for AMPD3  
     OriGene MassSpec something-or-other for AMPD3   OriGene clones in human, mouse for AMPD3  
     OriGene qSTAR qPCR primer pairs in human, mouse for AMPD3   OriGene Purified Protein for AMPD3  
     OriGene ORF clones in mouse, rat for AMPD3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AMPD3   OriGene Custom Protein Services for AMPD3  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AMPD3
     QIAGEN SeqTarget long-range PCR primers for resequencing AMPD3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMPD3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMPD3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMPD3
     GenScript Custom Purified and Recombinant Proteins Services for AMPD3 GenScript cDNA clones with any tag delivered in your preferred vector for AMPD3
     GenScript Custom Assay Services for AMPD3 GenScript Custom Superior Antibodies Services for AMPD3
     GenScript Custom overexpressing Cell Line Services for AMPD3 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in AMPD3 promoter
     Search Chromatin IP Primers for AMPD3
     RT2 qPCR Primer Assay in human, mouse, rat AMPD3
     Search GNC Networks for AMPD3
     SABiosciences Custom PCR Arrays for AMPD3
     Search Tocris compounds for AMPD3
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AMPD3 antibodies
     AMPD3 proteins
     AMPD3 lysates
     Antibodies for AMPD3
     See all of Abcam's Antibodies, Kits and Proteins for AMPD3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for AMPD3
     Antibodies for AMPD3
     ELISAs for AMPD3
     CLIAs for AMPD3
     Search LifeMap BioReagents cell lines for AMPD3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD3
     SwitchGear 3'UTR luciferase reporter plasmids for AMPD3
     SwitchGear Promoter luciferase reporter plasmids for AMPD3
     ThermoFisher Antibodies for AMPD3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD3
     inGenious Targeting Laboratory - Custom generated mouse model solutions for AMPD3
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AMPD3
    Customized:
     lentivirus for stable overexpression of AMPD3
     lentivirus expression plasmids for stable overexpression of AMPD3
     adenovirus for overexpression of AMPD3
     LSBio Antibodies in human, mouse, rat for AMPD3
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AMPD3 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4