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AMPD1 Gene

protein-coding   GIFtS: 65
GCID: GC01M115215

Adenosine Monophosphate Deaminase 1

(Previous name: adenosine monophosphate deaminase 1 (isoform M))
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Aliases
for AMPD1 gene

(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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Aliases
Adenosine Monophosphate Deaminase 11 2     AMPD2
Adenosine Monophosphate Deaminase 1 (Isoform M)1 2     MAD2
Skeletal Muscle AMPD1 2     MADA2
Myoadenylate Deaminase2 3     Adenosine Monophosphate Deaminase-1 (Muscle)2
EC 3.5.4.63 8     AMP Deaminase 12
MMDD2 5     AMP Deaminase Isoform M3
AMPD Isoform M1     

External Ids:    HGNC: 4681   Entrez Gene: 2702   Ensembl: ENSG000001167487   OMIM: 1027705   UniProtKB: P231093   

Export aliases for AMPD1 gene to outside databases

Previous GC identifers: GC01M115629 GC01M114097 GC01M114315 GC01M114514 GC01M114927 GC01M113074


Summaries
for AMPD1 gene

(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 AMPD1 Gene:
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an
important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the
liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a
common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human.
Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.(provided
by RefSeq, Feb 2010)

GeneCards Summary for AMPD1 Gene:
AMPD1 (adenosine monophosphate deaminase 1) is a protein-coding gene. Diseases associated with AMPD1 include adenosine monophosphate deaminase 1 deficiency, and myopathy due to myoadenylate deaminase deficiency. GO annotations related to this gene include AMP deaminase activity and myosin heavy chain binding. An important paralog of this gene is AMPD3.

UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
Function: AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD1 (AMP deaminase) Gene


Genomic Views
for AMPD1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMPD1 gene promoter:
         HFH-3   Pbx1a   MyoD   E4BP4   FOXL1   FOXI1   FOXC1   STAT3   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AMPD1 promoter sequence
   Search Chromatin IP Primers for AMPD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMPD1


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

Entrez Gene cytogenetic band: 1p13   Ensembl cytogenetic band:  1p13.2   HGNC cytogenetic band: 1p13

AMPD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMPD1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M115215:  view genomic region     (about GC identifiers)

Start:
 115,215,719 bp from pter      End:
 115,238,239 bp from pter
Size:
 22,521 bases      Orientation:
 minus strand

Proteins
for AMPD1 gene

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109 (See protein sequence)
Recommended Name: AMP deaminase 1  
Size: 780 amino acids; 90219 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Homotetramer
Caution: It is uncertain whether Met-1 or Met-34 is the initiator
Sequence caution: Sequence=AAA57281.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAG24258.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAF84038.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG36918.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAI18828.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: A8K5N4 B2RAM1 F2Z3B3 Q5TF00 Q5TF02
Alternative splicing: 2 isoforms:  P23109-1   P23109-2   

Explore the universe of human proteins at neXtProt for AMPD1: NX_P23109

Explore proteomics data for AMPD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
    • 4 DME Specific Peptides for AMPD1 (P23109)
     PHRDFYN  DADRVVY  RPHCGEAG  DNYINGEY 


    See AMPD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000027.2  NP_001166097.1  

    ENSEMBL proteins: 
     ENSP00000430075   ENSP00000358551   ENSP00000316520  
    Reactome Protein details: P23109

    AMPD1 Human Recombinant Protein Products:

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    AMPD1 Antibody Products:

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    AMPD1 Assay Products:

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    Domains /
    Families
    for AMPD1 gene

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

    TryGeneCards Plus    		 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 P23109

    ProtoNet protein and cluster: P23109

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

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Similarity: Belongs to the adenosine and AMP deaminases family


    AMPD1 for domains           About GeneDecksing


    Function
    for AMPD1 gene

    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMPD1_HUMAN, P23109
    Function: AMP deaminase plays a critical role in energy metabolism
    Catalytic activity: AMP + H(2)O = IMP + NH(3)

         Genatlas biochemistry entry for AMPD1:
    adenosine monophosphate deaminase 1 (isoform M,skeletal muscle),adenine nucleotide catabolic pathway,purine
    nucleotide cycle

         Enzyme Number (IUBMB): EC 3.5.4.61 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003876AMP deaminase activity IEA--
    GO:0019239deaminase activity ----
    GO:0032036myosin heavy chain binding IEA--
    GO:0046872metal ion binding IEA--
         
    AMPD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Ampd1 (no phenotypes)

    AMPD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMPD1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMPD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AMPD1

    miRNA
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    hsa-mir-16-5p (MIRT051077), hsa-mir-10a-5p (MIRT047529)

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    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): AMPD1 (NM_001172626)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMPD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMPD1

    Cell Line
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    In Situ Assay
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    Localization
    for AMPD1 gene

    (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
    plasma membrane1

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

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

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    Pathways & Interactions
    for AMPD1 gene

    (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 AMPD1 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
    4Immune response Function of MEF2 in T lymphocytes
    		Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for AMPD1
        Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    ATP/ITP metabolism

    1 Reactome Pathway for AMPD1
        Purine salvage


    2 Kegg Pathways  (Kegg details for AMPD1):
        Purine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1


    AMPD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMPD1
    Interactions:

        Search GeneGlobe Interaction Network for AMPD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AMPD1 (P231093 ENSP000003165204) via UniProtKB, MINT, STRING, and/or I2D (see all 68)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATG16L1Q676U53I2D: score=1 
    ATG5Q9H1Y03I2D: score=1 
    GABARAPO951663I2D: score=1 
    GABARAPL1Q9H0R83I2D: score=1 
    KBTBD7Q8WVZ93I2D: 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:0010033response to organic substance IEA--
    GO:0032264IMP salvage IEA--
    GO:0043101purine-containing compound salvage TAS--

    AMPD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for AMPD1 gene

    (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 AMPD1

    5 HMDB Compounds for AMPD1    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--

    1 DrugBank Compound for AMPD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8enzymesubstrate16646524 16497164

    9 Novoseek inferred chemical compound relationships for AMPD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ampd 91.2 5 17463303 (2), 7802626 (2)
    adenylate 64.1 16 16360962 (2), 1610923 (1), 10996775 (1), 17376785 (1) (see all 12)
    inosine monophosphate 39.4 1 15793265 (1)
    carnitine 32 2 2156480 (1), 9808277 (1)
    lactate 22 2 2156480 (1), 11408438 (1)
    methotrexate 21.7 4 17265507 (1), 19902562 (1), 17530705 (1), 16947783 (1)
    atp 12.6 8 9730972 (3), 7802626 (2), 18224333 (1), 11408438 (1)
    oxygen 0 1 17687759 (1)
    glucose 0 5 17565237 (1), 18855224 (1)

    1 PharmGKB related drug/compound annotation for AMPD1 gene    About this table
    Drug/compound PharmGKB Annotation
    methotrexateCA  



    AMPD1 for compounds           About GeneDecksing



    Transcripts
    for AMPD1 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AMPD1 gene (2 alternative transcripts): 
    NM_000036.2  NM_001172626.1  

    Unigene Cluster for AMPD1:

    Adenosine monophosphate deaminase 1
    Hs.89570  [show with all ESTs]
    Unigene Representative Sequence: NM_000036
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000520113 ENST00000369538(uc001efe.2 uc001eff.2) ENST00000485564
    ENST00000353928

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    Additional mRNA sequence: 

    AK097077.1 AK291349.1 AK314252.1 BC056678.1 M60092.1 

    3 DOTS entries:

    DT.91872456  DT.411811  DT.91811224 

    Selected AceView cDNA sequences (see all 358):

    BU155332 AI568738 W32722 CD365237 BX499618 AW072129 BM696482 BM794628 
    BX283953 AI051051 BM768440 AA086476 BM703033 AA346126 NM_005872 AA719669 
    BM760989 BP347512 BQ424395 AA740714 AI753082 NM_000036 BC063894 AI638838 

    GeneLoc Exon Structure


    Expression
    for AMPD1 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™, 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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    AMPD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTATCGCT
    AMPD1 Expression
    About this image

    AMPD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    AMPD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89570

    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
    Tissue specificity: Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal
    muscle; AMP deaminase 2 predominates in smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated
    myoblasts; AMP deaminase 3 is found in erythrocytes

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMPD1

    Orthologs
    for AMPD1 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for AMPD1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ampd11 , 5 adenosine monophosphate deaminase 11, 5 88.23(n)1
    93.02(a)1    		   3 (45.25 cM)5
    2296651  NM_001033303.21  NP_001028475.21 
     1030740145 
    chicken
    (Gallus gallus)    		 Aves AMPD11 adenosine monophosphate deaminase 1 74.08(n)
    80.73(a)    		   772125  XM_003642728.2  XP_003642776.1 
    lizard
    (Anolis carolinensis)    		 Reptilia AMPD16
    		 adenosine monophosphate deaminase 1
    		 79(a)
    		 1 ↔ 1
    		 4(130353272-130371246)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia ampd11 adenosine monophosphate deaminase 1 70.6(n)
    74.04(a)    		   100488507  XM_002935775.2  XP_002935821.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC063996.12   -- 77.46(n)   393867  BC063996.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes AMD16
    		 AMP deaminase, tetrameric enzyme that catalyzes th...
    		 36(a)
    		 1 → many
    		 XIII(206428-208860) YML035C


    ENSEMBL Gene Tree for AMPD1 (if available)
    TreeFam Gene Tree for AMPD1 (if available)

    Paralogs
    for AMPD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMPD1 gene
    AMPD32  AMPD22  
    2 SIMAP similar genes for AMPD1 using alignment to 11 protein entries:     AMPD1_HUMAN (see all proteins):
    AMPD3    AMPD2

    AMPD1 for paralogs           About GeneDecksing



    Genomic Variants
    for AMPD1 gene

    (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 AMPD1 (see all 598)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs358596501,2,,4
    		C,FMyopathy due to myoadenylate deaminase deficiency (MMDD)4 pathogenic1115289559(+) GTCCCG/ATAGCT 4 /R /W mis14Minor allele frequency- A:0.00NA 4598
    VAR_0132724
    		Myopathy due to myoadenylate deaminase deficiency (MMDD)4--see VAR_0132722 R H mis40--------
    VAR_0358014
    		A colorectal cancer sample4--see VAR_0358012 P H mis40--------
    rs1219126821,2
    		Cpathogenic1115289052(-) GCCCCA/GCCTGT 4 H R mis10--------
    rs176027291,2
    		C,F,Hpathogenic1115305017(-) AGAAAC/TGTGAG 3 Q * int1 stg120Minor allele frequency- T:0.08NA NS EA EU 7719
    rs559676351,2
    		--113083693(+) TTTTTC/TTGAGA 2 -- int10--------
    rs121325981,2
    		C,F,A--113094261(+) aataaG/Ataagt 2 -- int12Minor allele frequency- A:0.00NA 4
    rs3708385361,2
    		C--115217261(+) TGCTC-/ACTTGA 2 -- int10--------
    rs726878651,2
    		C--115220420(+) TCTCCC/TTCCTT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs593850081,2
    		C--115224215(+) ATCTC-/AAAAAA 2 -- int11Minor allele frequency- A:0.00NA 2

    HapMap Linkage Disequilibrium report for AMPD1 (115215719 - 115238239 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AMPD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv28734CNV Loss19812545

    Human Gene Mutation Database (HGMD): AMPD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMPD1
    DNA2.0 Custom Variant and Variant Library Synthesis for AMPD1

    Disorders / Diseases
    for AMPD1 gene

    (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.)
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    OMIM gene information: 102770   
    OMIM disorders: 615511  
    UniProtKB/Swiss-Prot: AMPD1_HUMAN, P23109
  • Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]: A metabolic disorder resulting in
    exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue.
    Note=The disease is caused by mutations affecting the gene represented in this entry

    • Selected diseases for AMPD1 (see all 30):    
    About MalaCards
    adenosine monophosphate deaminase 1 deficiency    myopathy due to myoadenylate deaminase deficiency    adenosine monophosphate deaminase deficiency    glycogen storage disease v
    barth syndrome    congestive heart failure    neuromuscular disease    myopathy
    malignant hyperthermia    glycogen storage disease    polymyositis    coronary artery disease
    ischemia    dilated cardiomyopathy    coronary heart disease    rhabdomyosarcoma
    rheumatoid arthritis    malaria    breast and colorectal cancer    arthritis

    4 diseases from the University of Copenhagen DISEASES database for AMPD1:
    Glycogen storage disease     Myopathy     Barth syndrome     Malignant hyperthermia

    AMPD1 for disorders           About GeneDecksing


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

    Selected Novoseek inferred disease relationships for AMPD1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mcardles disease 83.7 3 19232494 (1), 12666117 (1)
    myopathy 67 7 11102975 (2), 8486786 (1), 11408438 (1), 19258857 (1) (see all 5)
    rhabdomyolysis 61.8 1 1440976 (1)
    neuromuscular diseases 53.5 1 15368811 (1)
    enzyme deficiency 41.4 1 9760316 (1)
    heart failure 39 15 14499869 (3), 15239633 (2), 11028479 (1), 12448564 (1) (see all 9)
    heart failure congestive 38.9 12 16996850 (3), 15135700 (2), 17452135 (1), 17452134 (1) (see all 7)
    coronary artery disease 30 6 11028479 (1), 17376785 (1), 16875916 (1), 15882662 (1) (see all 5)
    cardiovascular diseases 7.15 3 17378808 (1), 18855224 (1)
    rheumatoid arthritis 6.78 1 17265507 (1)

    Genatlas disease: AMPD1
    myopathy,exercise-related

    Genetic Association Database (GAD): AMPD1
    Human Genome Epidemiology (HuGE) Navigator: AMPD1 (39 documents)

    Export disorders for AMPD1 gene to outside databases

    Publications
    for AMPD1 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

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    PubMed articles for AMPD1 gene, integrated from 10 sources (see all 127):
    (articles sorted by number of sources associating them with AMPD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome). (PubMed id 15135700)1, 4, 9 Gastmann A....Figulla H.R. (Am. J. Cardiol. 2004)
    2. AMPD1 (C34T) polymorphism and clinical outcomes in patients undergoing myocardial revascularization. (PubMed id 15882662)1, 4, 9 Andreassi M.G....Picano E. (Int. J. Cardiol. 2005)
    3. First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient. (PubMed id 11102975)1, 2, 9 Morisaki H.... Morisaki T. (Hum. Mutat. 2000)
    4. The impact of the AMPD1 gene polymorphism on exercise capacity, other prognostic parameters, and survival in patients with stable congestive heart failure: a study in 686 consecutive patients. (PubMed id 16996850)1, 4, 9 de Groote P....Bauters C. (Am. Heart J. 2006)
    5. Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait. (PubMed id 15793265)1, 4, 9 Goodarzi M.O....Rotter J.I. (Diabetes 2005)
    6. A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. (PubMed id 11028479)1, 4, 9 Anderson J.L....Hart N. (J. Am. Coll. Cardiol. 2000)
    7. Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure. (PubMed id 18855224)1, 4, 9 Safranow K....Chlubek D. (Scand. J. Clin. Lab. Invest. 2009)
    8. Association between AMPD1 gene polymorphism and coagulation factors in patients with coronary heart disease. (PubMed id 17565237)1, 4, 9 Agewall S. and Norman B. (Pathophysiol. Haemost. Thromb. 2006)
    9. Does the C34T mutation in AMPD1 alter exercise capacity in the elderly? (PubMed id 16767606)1, 4, 9 PAcrez M....Lucia A. (Int J Sports Med 2006)
    10. Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance? (PubMed id 15677729)1, 4, 9 Rubio J.C....Lucia A. (J. Appl. Physiol. 2005)

    External Searches for AMPD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
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    Genome Databases showing AMPD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 270 HGNC: 468 AceView: AMPD1andBCAS2andFLJ37099 Ensembl:ENSG00000116748 euGenes: HUgn270
    ECgene: AMPD1 Kegg: 270 H-InvDB: AMPD1

    Other Databases showing AMPD1 gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing AMPD1 gene

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

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    NameDescription
    PharmGKB entry for AMPD1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AMPD1[genesymbol]

    Intellectual Property
    for AMPD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    TryGeneCards Plus    		Patent Information for AMPD1 gene:
    Search GeneIP for patents involving AMPD1

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



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