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AMPD1 Gene(Protein Coding)

Adenosine Monophosphate Deaminase 1

GCID:
GC01M114673
GIFtS:
67
Genes Participants
UDN Logo

Aliases for AMPD1 Gene

Aliases for AMPD1 Gene

  • Adenosine Monophosphate Deaminase 1 2 3 5
  • Adenosine Monophosphate Deaminase 1 (Isoform M) 2 3
  • Myoadenylate Deaminase 3 4
  • Skeletal Muscle AMPD 2 3
  • EC 3.5.4.6 4 63
  • Adenosine Monophosphate Deaminase-1 (Muscle) 3
  • AMP Deaminase Isoform M 4
  • AMPD Isoform M 2
  • AMPD 3
  • MADA 3
  • MMDD 3
  • MAD 3

External Ids for AMPD1 Gene

Previous GeneCards Identifiers for AMPD1 Gene

  • GC01M115629
  • GC01M114097
  • GC01M114315
  • GC01M114514
  • GC01M114927
  • GC01M115215
  • GC01M113074

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 Purine metabolism and Immune response Function of MEF2 in T lymphocytes. GO annotations related to this gene include deaminase activity 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

Products:

  1. Regulatory Element

Regulatory Elements for AMPD1 Gene

Enhancers for AMPD1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around AMPD1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the AMPD1 gene promoter:

Genomic Location for AMPD1 Gene

Chromosome:
1
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

Genes around AMPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMPD1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for AMPD1 Gene

Proteins for AMPD1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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;
    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

Protein Expression for AMPD1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for AMPD1 Gene

P23109:

Post-translational modifications for AMPD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMPD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AMPD1 Gene

Protein Domains for AMPD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AMPD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P23109

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for AMPD1 Gene

Function for AMPD1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

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:0019239 deaminase activity IEA --
genes like me logo Genes that share ontologies with AMPD1: view

Phenotypes for AMPD1 Gene

MGI mutant phenotypes for AMPD1:
inferred from 1 alleles
GenomeRNAi human phenotypes for AMPD1:
genes like me logo Genes that share phenotypes with AMPD1: view

Human Phenotype Ontology for AMPD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMPD1 Gene

MGI Knock Outs for AMPD1:

Animal Model Products

miRNA for AMPD1 Gene

miRTarBase miRNAs that target AMPD1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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 5
mitochondrion 2
nucleus 2
cytoskeleton 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AMPD1 Gene

Pathways & Interactions for AMPD1 Gene

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

Pathways by source for AMPD1 Gene

2 KEGG pathways 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:0009168 purine ribonucleoside monophosphate biosynthetic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with AMPD1: view

No data available for SIGNOR curated interactions for AMPD1 Gene

Drugs & Compounds for AMPD1 Gene

Products:

  1. Drug

(8) Drugs for AMPD1 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra Enzyme, substrate 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR, Cytotoxic agent 1466
Regadenoson Approved Pharma Agonist 62
Cladribine Approved, Investigational Pharma Apoptosis inducer in CLL cells 68
Propranolol Approved, Investigational Pharma Antagonist 207

(8) Additional Compounds for AMPD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
 7664-41-7
Water
  • Dihydrogen oxide
  • Steam
 7732-18-5

(1) ApexBio Compounds for AMPD1 Gene

Compound Action Cas Number
Cladribine Apoptosis inducer in CLL cells 4291-63-8
genes like me logo Genes that share compounds with AMPD1: view

Transcripts for AMPD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for AMPD1 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(358) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMPD1 Gene

Adenosine monophosphate deaminase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Products:

  1. Primer

mRNA expression in normal human tissues for AMPD1 Gene

mRNA expression in normal human tissues for AMPD1 Gene
mRNA expression by BioGPS for AMPD1 GenemRNA expression by GTEx for AMPD1 Gene

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

This gene is overexpressed in Muscle - Skeletal (x49.7).

Protein differential expression in normal tissues from HIPED for AMPD1 Gene

This gene is overexpressed in Cervix (37.1) and Tonsil (31.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AMPD1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for AMPD1 Gene

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
cow
(Bos Taurus)
 Mammalia AMPD1 35
  • 91.48 (n)
  • 93.44 (a)
AMPD1 36
  • 95 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia AMPD1 35
  • 90.73 (n)
  • 92.81 (a)
AMPD1 36
  • 92 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ampd1 35
  • 88.23 (n)
  • 93.02 (a)
Ampd1 16
Ampd1 36
  • 93 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia AMPD1 35
  • 99.74 (n)
  • 99.62 (a)
AMPD1 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ampd1 35
  • 87.06 (n)
  • 92.77 (a)
oppossum
(Monodelphis domestica)
 Mammalia AMPD1 36
  • 87 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia AMPD1 36
  • 88 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AMPD1 35
  • 74.08 (n)
  • 80.73 (a)
AMPD1 36
  • 80 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia AMPD1 36
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ampd1 35
  • 70.6 (n)
  • 74.04 (a)
zebrafish
(Danio rerio)
 Actinopterygii -- 35
ampd1 35
  • 69.37 (n)
  • 73.11 (a)
ampd1 36
  • 72 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea C34F11.3a 37
  • 46 (a)
C34F11.3b 37
  • 47 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AMD1 36
  • 36 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 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

(2) SIMAP similar genes for AMPD1 Gene using alignment to 11 proteins:

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
rs61752479 - 114,688,633(+) AAATC(A/G)GACAG reference, missense
rs35859650 Myopathy due to myoadenylate deaminase deficiency (MMDD) 114,677,972(+) GTCCC(A/G)TAGCT reference, missense
VAR_013272 Myopathy due to myoadenylate deaminase deficiency (MMDD)
VAR_035801 A colorectal cancer sample
rs2273268 - 114,688,712(-) TTGCT(A/G)AAAAA reference, missense

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

Variant ID Type Subtype PubMed ID
esv28734 CNV Loss 19812545

Variation tolerance for AMPD1 Gene

Residual Variation Intolerance Score: 52.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.23; 76.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMPD1 Gene

Human Gene Mutation Database (HGMD)
AMPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMPD1 Gene

Disorders for AMPD1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for AMPD1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy due to myoadenylate deaminase deficiency
  • mad deficiency
adenosine monophosphate deaminase 1 deficiency
  • myopathy due to myoadenylate deaminase deficiency
mcardle disease
  • glycogen storage disease v
myopathy
  • muscular diseases
myopathy, myofibrillar, 4
  • myofibrillar myopathy 4
- elite association - COSMIC cancer census association via MalaCards
Search AMPD1 in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for AMPD1 Gene

myopathy,exercise-related

Relevant External Links for AMPD1

Genetic Association Database (GAD)
AMPD1
Human Genome Epidemiology (HuGE) Navigator
AMPD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMPD1
genes like me logo Genes that share disorders with AMPD1: view

Publications for AMPD1 Gene

  1. Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome). (PMID: 15135700) Gastmann A. … Figulla H.R. (Am. J. Cardiol. 2004) 3 23 48 67
  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. Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing. (PMID: 19422651) Santiago C. … Lucia A. (Scand J Med Sci Sports 2010) 3 23
  4. Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. (PMID: 20044476) Tsianos G.I. … Ioannidis J.P. (J. Appl. Physiol. 2010) 3 23
  5. Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure. (PMID: 18855224) Safranow K. … Chlubek D. (Scand. J. Clin. Lab. Invest. 2009) 3 23

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