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Aliases for AMPD1 Gene

Aliases for AMPD1 Gene

  • Adenosine Monophosphate Deaminase 1 2 3
  • Adenosine Monophosphate Deaminase 1 (Isoform M) 2 3
  • Myoadenylate Deaminase 3 4
  • Skeletal Muscle AMPD 2 3
  • EC 3.5.4.6 4 64
  • MMDD 3 6
  • Adenosine Monophosphate Deaminase-1 (Muscle) 3
  • AMP Deaminase Isoform M 4
  • AMP Deaminase 1 3
  • AMPD Isoform M 2
  • AMPD 3
  • MADA 3
  • MAD 3

External Ids for AMPD1 Gene

Summaries for AMPD1 Gene

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 myopathy due to myoadenylate deaminase deficiency and adenosine monophosphate deaminase 1 deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include myosin heavy chain binding and AMP deaminase activity. An important paralog of this gene is AMPD2.

UniProtKB/Swiss-Prot for AMPD1 Gene

  • AMP deaminase plays a critical role in energy metabolism

Gene Wiki entry for AMPD1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMPD1 Gene

Genomics for AMPD1 Gene

Genomic Location for AMPD1 Gene

Start:
114,673,098 bp from pter
End:
114,695,618 bp from pter
Size:
22,521 bases
Orientation:
Minus strand

Genomic View for AMPD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AMPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMPD1 Gene

Regulatory Elements for AMPD1 Gene

Proteins for AMPD1 Gene

  • Protein details for AMPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23109-AMPD1_HUMAN
    Recommended name:
    AMP deaminase 1
    Protein Accession:
    P23109
    Secondary Accessions:
    • A8K5N4
    • B2RAM1
    • F2Z3B3
    • Q5TF00
    • Q5TF02

    Protein attributes for AMPD1 Gene

    Size:
    780 amino acids
    Molecular mass:
    90219 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Homotetramer
    SequenceCaution:
    • Sequence=AAA57281.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG24258.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84038.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG36918.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI18828.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for AMPD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMPD1 Gene

Proteomics data for AMPD1 Gene at MOPED

Selected DME Specific Peptides for AMPD1 Gene

Post-translational modifications for AMPD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMPD1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for AMPD1 Gene

Protein Domains for AMPD1 Gene

UniProtKB/Swiss-Prot:

AMPD1_HUMAN
Family:
  • Belongs to the adenosine and AMP deaminases family.:
    • P23109
genes like me logo Genes that share domains with AMPD1: view

No data available for Gene Families for AMPD1 Gene

Function for AMPD1 Gene

Molecular function for AMPD1 Gene

GENATLAS Biochemistry: adenosine monophosphate deaminase 1 (isoform M,skeletal muscle),adenine nucleotide catabolic pathway,purine nucleotide cycle
UniProtKB/Swiss-Prot CatalyticActivity: AMP + H(2)O = IMP + NH(3)
UniProtKB/Swiss-Prot Function: AMP deaminase plays a critical role in energy metabolism

Enzyme Numbers (IUBMB) for AMPD1 Gene

Gene Ontology (GO) - Molecular Function for AMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003876 AMP deaminase activity IEA --
GO:0019239 deaminase activity --
GO:0032036 myosin heavy chain binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMPD1: view

miRNA for AMPD1 Gene

miRTarBase miRNAs that target AMPD1

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for AMPD1 Gene

Localization for AMPD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AMPD1 Gene COMPARTMENTS Subcellular localization image for AMPD1 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for AMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with AMPD1: view

Pathways for AMPD1 Gene

genes like me logo Genes that share pathways with AMPD1: view

Pathways by source for AMPD1 Gene

UniProtKB/Swiss-Prot P23109-AMPD1_HUMAN

  • Pathway: Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1

Gene Ontology (GO) - Biological Process for AMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006144 purine nucleobase metabolic process TAS --
GO:0010033 response to organic substance IEA --
GO:0032264 IMP salvage IEA --
GO:0043101 purine-containing compound salvage TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AMPD1: view

Compounds for AMPD1 Gene

(5) HMDB Compounds for AMPD1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Ammonia
  • NH3
7664-41-7
Inosinic acid
  • 5'-IMP
131-99-7
Propranolol
  • Dociton
525-66-6
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for AMPD1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine monophosphate
  • 5'-Adenosine monophosphate
61-19-8 enzyme substrate

(9) Novoseek inferred chemical compound relationships for AMPD1 Gene

Compound -log(P) Hits PubMed IDs
ampd 91.2 4
adenylate 64.1 13
inosine monophosphate 39.4 1
carnitine 32 2
lactate 22 2

(1) PharmGKB related drug/compound annotations for AMPD1 Gene

Drug/compound Annotation
methotrexate CA
genes like me logo Genes that share compounds with AMPD1: view

Transcripts for AMPD1 Gene

mRNA/cDNA for AMPD1 Gene

Unigene Clusters for AMPD1 Gene

Adenosine monophosphate deaminase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMPD1 Gene

No ASD Table

Relevant External Links for AMPD1 Gene

GeneLoc Exon Structure for
AMPD1
ECgene alternative splicing isoforms for
AMPD1

Expression for AMPD1 Gene

mRNA expression in normal human tissues for AMPD1 Gene

mRNA differential expression in normal tissues according to GTEx for AMPD1 Gene

This gene is overexpressed in Muscle - Skeletal (49.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AMPD1 Gene

SOURCE GeneReport for Unigene cluster for AMPD1 Gene Hs.89570

mRNA Expression by UniProt/SwissProt for AMPD1 Gene

P23109-AMPD1_HUMAN
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
genes like me logo Genes that share expressions with AMPD1: view

Orthologs for AMPD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AMPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMPD1 36
  • 99.74 (n)
  • 99.62 (a)
AMPD1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AMPD1 36
  • 91.48 (n)
  • 93.44 (a)
AMPD1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMPD1 36
  • 90.73 (n)
  • 92.81 (a)
AMPD1 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ampd1 36
  • 88.23 (n)
  • 93.02 (a)
Ampd1 16
Ampd1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMPD1 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AMPD1 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ampd1 36
  • 87.06 (n)
  • 92.77 (a)
chicken
(Gallus gallus)
Aves AMPD1 36
  • 74.08 (n)
  • 80.73 (a)
AMPD1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMPD1 37
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ampd1 36
  • 70.6 (n)
  • 74.04 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 36
ampd1 36
  • 69.37 (n)
  • 73.11 (a)
ampd1 37
  • 72 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C34F11.3b 38
  • 47 (a)
C34F11.3a 38
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AMD1 37
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 57 (a)
OneToMany
Species with no ortholog for AMPD1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for AMPD1 Gene

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

Paralogs for AMPD1 Gene

Paralogs for AMPD1 Gene

genes like me logo Genes that share paralogs with AMPD1: view

Variants for AMPD1 Gene

Sequence variations from dbSNP and Humsavar for AMPD1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs737549 -- 114,679,486(-) ATTAA(C/T)CTAAG intron-variant
rs743041 -- 114,679,857(-) TACTT(C/T)TCAGT intron-variant
rs761755 -- 114,679,813(-) TCCAA(C/T)AATTA intron-variant
rs915955 -- 114,679,922(-) CTTTC(A/C)AAGTT intron-variant
rs926938 -- 114,697,195(-) GATCT(C/T)TGGGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for AMPD1 Gene

Variant ID Type Subtype PubMed ID
esv28734 CNV Loss 19812545

Relevant External Links for AMPD1 Gene

HapMap Linkage Disequilibrium report
AMPD1
Human Gene Mutation Database (HGMD)
AMPD1

Disorders for AMPD1 Gene

(1) OMIM Diseases for AMPD1 Gene (102770)

UniProtKB/Swiss-Prot

AMPD1_HUMAN
  • 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. {ECO:0000269 PubMed:11102975}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for AMPD1 Gene

(12) Novoseek inferred disease relationships for AMPD1 Gene

Disease -log(P) Hits PubMed IDs
mcardles disease 83.7 2
myopathy 67 6
rhabdomyolysis 61.8 1
neuromuscular diseases 53.5 1
enzyme deficiency 41.4 1

Genatlas disease for AMPD1 Gene

myopathy,exercise-related

Relevant External Links for AMPD1

Genetic Association Database (GAD)
AMPD1
Human Genome Epidemiology (HuGE) Navigator
AMPD1
genes like me logo Genes that share disorders with AMPD1: view

Publications for AMPD1 Gene

  1. Molecular analysis of the myoadenylate deaminase deficiencies. (PMID: 1370861) Sabina R.L. … Holmes E.W. (Neurology 1992) 3 4 23
  2. Cloning of human AMP deaminase isoform E cDNAs. Evidence for a third AMPD gene exhibiting alternatively spliced 5'-exons. (PMID: 1400401) Mahnke-Zizelman D.K. … Sabina R.L. (J. Biol. Chem. 1992) 2 3 23
  3. Molecular basis of AMP deaminase deficiency in skeletal muscle. (PMID: 1631143) Morisaki T. … Holmes E.W. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  4. Characterization of the human and rat myoadenylate deaminase genes. (PMID: 2345176) Sabina R.L. … Holmes E.W. (J. Biol. Chem. 1990) 3 4 23
  5. A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. (PMID: 11028479) Anderson J.L. … Hart N. (J. Am. Coll. Cardiol. 2000) 3 23 49

Products for AMPD1 Gene

Sources for AMPD1 Gene

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