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: 61
GCID: GC11P010329

adenosine monophosphate deaminase 3

(Previous name: adenosine monophosphate deaminase (isoform E) )
 Explore 19 diseases affiliated with
AMPD3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AMPD3    

Aliases
for AMPD3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Adenosine Monophosphate Deaminase 31 2     AMP Deaminase 32
Adenosine Monophosphate Deaminase (Isoform E)1 2     Erythrocyte Type AMP Deaminase2
Erythrocyte AMP Deaminase2 3     Erythrocyte-Specific AMP Deaminase2
EC 3.5.4.63 8     Myoadenylate Deaminase2
AMP Aminohydrolase2     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


Summaries
for AMPD3 gene

(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:
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)

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

Gene Wiki entry for AMPD3


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
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

Proteins
for AMPD3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    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: AMPD3
    OriGene Protein Over-expression Lysate (see all 2): 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 ProSpec Recombinant Proteins
    Uscn 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
    Search for Antibodies for AMPD3 at Abcam  
    Uscn Antibodies for AMPD3
    ThermoFisher Antibodies for AMPD3

    Assay Products for AMPD3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AMPD3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for AMPD3

    Protein Domains /
    Families
    for AMPD3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AMPD3 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB006650 Adenosine/AMP deaminase active site

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


    Function
    for AMPD3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 3): AMPD3
    Browse MicroRNA Expression Plasmids
    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 plasmid: AMPD3 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPD3 (see all 7)
    OriGene shRNA RFP: AMPD3
    OriGene siRNA: AMPD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for AMPD3

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD3 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD3 (see all 5)
    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 

    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

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003876AMP deaminase activity IEA--
    GO:0046872metal ion binding IEA--


    AMPD3 for ontologies           About GeneDecksing


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

    AMPD3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AMPD3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Purine metabolism
    		Purine metabolism1.00
    		Purine salvage0.39
    		Metabolism of nucleotides0.42
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3ATP/ITP metabolism
    		ATP/ITP metabolism1.00
    		ATP/ITP metabolism0.98
    4Purine metabolism
    		Purine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006188IMP biosynthetic process ----
    GO:0006196AMP catabolic process TAS9291127
    GO:0032264IMP salvage IEA--
    GO:0043101purine-containing compound salvage TAS--


    AMPD3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AMPD3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for AMPD3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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:             		 OriGene 3'-UTR Clone (see all 3): AMPD3
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: AMPD3 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPD3 (see all 7)
    OriGene shRNA RFP: AMPD3
    OriGene siRNA: AMPD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMPD3
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD3 (see all 7)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD3 (see all 5)
    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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMPD3
    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA 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):

    CR626009 CA775423 BX483124 AA362222 BX104911 M84722 BF055506 AL547924 
    BX489285 BQ772957 AI690159 BM723099 T29128 AI690034 CD608601 AW298461 
    BX343894 AW139868 AI216587 AU136146 W73721 AL572688 BE505012 AA490397 

    GeneLoc Exon Structure


    Expression
    for AMPD3 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AATACTTTAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AMPD3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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 genome-wide validated SYBR primer pairs in human, mouse, rat for AMPD3
    Browse OriGene validated miRNA SYBR primer pairs
    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
    for AMPD3 gene

    (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 5/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 83(a)
    		 1 ↔ 1
    		 1(63536981-63576603)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufi25h102 wufi25h10 76.82(n)   333997  BC044154.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons FAC16
    		 AMP deaminase
    		 37(a)
    		 1 → many
    		 2(16033448-16038876)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    		 AMP deaminase, putative, expressed
    		 53(a)
    38(a)
    		 many ↔ many
    many ↔ many
    		 5(16420105-16428026)
    7(29504015-29512215)


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

    Paralogs
    for AMPD3 gene

    (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



    Genomic Variants
    for AMPD3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1218 NCBI SNPs in AMPD3 are shown (see all 1218)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs37410401,2
    		C,F,H,pathogenic10521792(+) ACCTCC/TGCAGG 10 R C mis1 ese39Minor allele frequency- T:0.01EA NS NA 2160
    rs1392678601,2
    		C,--10470183(+) CACAT-/ACAC  
                ACACA     		1 -- us2k10--------
    rs1507507431,2
    		C,--10470183(+) CACAT-/ACAC  
      ACACAC    ACACA     		1 -- us2k10--------
    rs2016513371,2
    		--10470190(+) CACAC-/ATACACA 1 -- us2k10--------
    rs110428091,2
    		C--10470192(+) ACACAC/TACACA 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs49099281,2
    		C,F,A,H,--10470275(+) CTTTAG/AAAGAA 2 -- us2k120Minor allele frequency- A:0.26NS EA NA WA CSA 2234
    rs1427925561,2
    		--10470314(+) TTGACA/GTTTGG 2 -- us2k10--------
    rs79299991,2
    		C,F,A,H,--10470440(+) ATATTG/CCAAAT 2 -- us2k111Minor allele frequency- C:0.50NA WA CSA EA 373
    rs2020297661,2
    		C--10470658(+) GATATC/TTNNNN 2 -- us2k10--------
    rs2001460491,2
    		--10470674(+) TTTTT-/AAAAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMPD3 (10329860 - 10529126 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for AMPD3: --
    Human Gene Mutation Database (HGMD): AMPD3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AMPD3
    DNA2.0 Custom Variant and Variant Library Synthesis for AMPD3

    Disorders / Diseases
    for AMPD3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AMPD3 for disorders           About GeneDecksing

    OMIM gene information: 102772   
    OMIM disorders: 612874  
    UniProtKB/Swiss-Prot: AMPD3_HUMAN, Q01432
  • Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE)
    • [MIM:612874]; also known as erythrocyte AMP deaminase deficiency. AMPDDE is 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

    19 diseases for AMPD3:    About MalaCards
    amp deaminase deficiency, erythrocytic    adenosine monophosphate deaminase deficiency    erythrocyte amp deaminase deficiency    myoadenylate deaminase deficiency
    metabolic disorders    essential hypertension    hyperuricemia    ischemia
    myopathy    nephropathy    lung adenocarcinoma    hypertension
    hepatocellular carcinoma    alzheimer's disease    adenocarcinoma    carcinoma
    hypoxia    immunodeficiency    malaria

    1 disease from the University of Copenhagen DISEASES database for AMPD3:
    Liver neoplasm

    10/12 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: AMPD3 (1 document)

    Export disorders for AMPD3 gene to outside databases

    Publications
    for AMPD3 gene

    (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 172):
    (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. 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)
    7. 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)
    8. 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)
    9. Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC). (PubMed id 18493842)1, 9 Szydl/owska M. and Roszkowska A. (2008)
    10. Coordinate induction of AMP deaminase in human atrium with mitochondrial DNA deletion. (PubMed id 12604357)1, 9 Tomikura Y....Kitakaze M. (2003)

    External Searches for AMPD3 gene

    (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)

    Genome Databases showing AMPD3 gene

    (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

    Other Databases showing AMPD3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AMPD3 gene

    (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

    Intellectual Property
    for AMPD3 gene

    (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



    Products
    for AMPD3 gene

    (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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    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 Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for AMPD3  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AMPD3   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AMPD3  
     OriGene Protein Over-expression Lysate for AMPD3   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for AMPD3   OriGene 3'-UTR Clone for AMPD3  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD3   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AMPD3  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein 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  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AMPD3
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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 cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AMPD3 antibodies
     AMPD3 proteins
     AMPD3 lysates
     Search for Antibodies for AMPD3 at Abcam
     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




     AMPD3 Proteins, Antibodies, CLIAs, and ELISAs
     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
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      AMPD3 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4