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AMPD3 Gene

protein-coding   GIFtS: 63
GCID: GC11P010329

Adenosine Monophosphate Deaminase 3

(Previous name: adenosine monophosphate deaminase (isoform E))
  See AMPD3-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4.4

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   
ORGUL members:    fRNAdb10:FR120278 FR138171 FR181116 FR163601 FR407653      
H-InvDB12:HIT000395566    
NCBI13:EF537580    
NONCODE14:n386004 n337574    
RNAdb15:RNZ6343 EVF32528 EVF47705 RNZ6344    

Export aliases for AMPD3 gene to outside databases

Previous GC identifers: GC11P011483 GC11P011042 GC11P010511 GC11P010436 GC11P010428 GC11P010144


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 adenosine monophosphate deaminase deficiency, and erythrocyte amp deaminase deficiency. GO annotations related to this gene include AMP deaminase activity. 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

fRNAdb sequence ontologies for AMPD3 - the ORGUL cluster for this gene includes several descriptions:
nc_conserved_region - Non-coding region of sequence similarity by descent from a common ancestor.
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for AMPD3

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_009237.19  
Regulatory elements:
   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 Chromatin IP Primers for AMPD3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AMPD3 (Q01432) (see all 5)
     PHRDFYN  QFHYTKE  RPHCGEAG  TFHRFDKFN 


    See AMPD3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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    Cloud-Clone Corp. CLIAs for AMPD3
    Search eBioscience for ELISAs for AMPD3 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with AMPD3           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003876AMP deaminase activity IEA--
    GO:0019239deaminase activity ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with AMPD3           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ampd3):
     cellular  hematopoietic system  immune system  respiratory system  skeleton 

    Find genes that share phenotypes with AMPD3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ampd3tm1Tm for AMPD3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMPD3
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       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
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    miRTarBase miRNAs that target AMPD3:
    hsa-mir-335-5p (MIRT018876)

    Block miRNA regulation of human, mouse, rat AMPD3 using miScript Target Protectors
    Selected qRT-PCR 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
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    OriGene RNAi products in human, mouse, rat for AMPD3
    Predesigned siRNA for gene silencing in human, mouse, rat AMPD3

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 5): AMPD3 (NM_000480)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with AMPD3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for AMPD3 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    ATP ITP metabolism0.31
    3Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine salvage0.00
    Metabolism of nucleotides0.42


    Find genes that share SuperPaths with AMPD3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for AMPD3
        Purine salvage


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMPD3
    Interactions:

        Search GeneGlobe Interaction Network 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): Selected biological process terms (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--

    Find genes that share ontologies with AMPD3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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--

    Selected 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)



    Find genes that share compounds with AMPD3           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    5 fRNAdb Secondary structures:


    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
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    Selected qRT-PCR 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
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    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 

    Selected AceView cDNA sequences (see all 186):

    BX104911 AA362222 BX483124 CA775423 AW298461 BX489285 T29128 BM723099 
    AL547924 AW139868 BQ772957 AI690159 AI216587 CD608601 AI690034 BX343894 
    M84722 BF055506 CR626009 BM929590 AL598526 AW015618 BX645828 T28054 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AMPD3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Peripheral Nervous System (Nervous System)
    AMPD3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMPD3 Protein Expression

    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

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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AMPD3 gene from Selected 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_009667.31  NP_033797.21 
     1107682065 
    chicken
    (Gallus gallus)
    Aves AMPD31 adenosine monophosphate deaminase 3 75.14(n)
    85.98(a)
      423041  NM_001199588.1  NP_001186517.1 
    lizard
    (Anolis carolinensis)
    Reptilia AMPD36
    adenosine monophosphate deaminase 3
    76(a)
    1 ↔ 1
    1(63536981-63583088)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ampd31 adenosine monophosphate deaminase 3 74.84(n)
    81.06(a)
      595079  NM_001030516.1  NP_001025687.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi25h102 wufi25h10 76.82(n)   333997  BC044154.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AMD16
    AMP deaminase, tetrameric enzyme that catalyzes th...
    39(a)
    1 → many
    XIII(206428-208860) YML035C
    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)
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    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

    Find genes that share paralogs with AMPD3           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AMPD3 (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
    ----------
    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
    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--------

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 4 diseases for AMPD3:    
    About MalaCards
    adenosine monophosphate deaminase deficiency    erythrocyte amp deaminase deficiency    penile neoplasm    myopathy due to myoadenylate deaminase deficiency


    Find genes that share disorders with AMPD3           About GenesLikeMe

    Selected 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)
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    PubMed articles for AMPD3 gene, integrated from 10 sources (see all 178):
    (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. (J. Biol. Chem. 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. (Hum. Mutat. 2001)
    3. A point mutation responsible for human erythrocyte AMP deaminase deficiency. (PubMed id 8004104)1, 2, 9 Yamada Y.... Ogasawara N. (Hum. Mol. Genet. 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. (Biochim. Biophys. Acta 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. (Biochim. Biophys. Acta 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. (Mol. Med. 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. (Hum. Mol. Genet. 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. (Biochemistry 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. (Biochem. J. 1997)
    10. Expression patterns of AMP-deaminase isozymes in human hepatocellular carcinoma (HCC). (PubMed id 18493842)1, 9 SzydA8owska M. and Roszkowska A. (Mol. Cell. Biochem. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 272 HGNC: 470 AceView: AMPD3 Ensembl:ENSG00000133805 euGenes: HUgn272
    ECgene: AMPD3 Kegg: 272 H-InvDB: AMPD3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



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