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AMPD1 Gene(Protein Coding)

Adenosine Monophosphate Deaminase 1

GCID:
GC01M114673
GIFtS:
55
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 56
  • Adenosine Monophosphate Deaminase-1 (Muscle) 3
  • AMP Deaminase Isoform M 4
  • AMP Deaminase 1 3
  • 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 Metabolism and Pyrimidine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include deaminase activity and AMP deaminase activity. An important paralog of this gene is AMPD3.

UniProtKB/Swiss-Prot for AMPD1 Gene

  • AMP deaminase plays a critical role in energy metabolism.

Gene Wiki entry for AMPD1 Gene

Additional gene information for AMPD1 Gene

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

Genomics for AMPD1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for AMPD1 Gene

Promoters and enhancers for AMPD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I114695 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 550.8 -0.1 -81 0.6 ZSCAN4 RUNX3 AMPD1 DENND2C RN7SL432P GC01M114679
GH01I114693 Enhancer 0.4 dbSUPER 561.5 +1.6 1588 0.6 RNF2 SMARCA4 AMPD1 DENND2C GC01M114679
GH01I114694 Enhancer 0.4 dbSUPER 550.8 +1.0 981 0.6 RNF2 SMARCA4 PRDM1 AMPD1 DENND2C GC01M114679
GH01I114667 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 14.3 +25.8 25795 3.7 PKNOX1 ATF1 FOXA2 ARID4B ZNF2 BRCA1 ZNF48 YY1 ZNF121 GLIS2 DENND2C AMPD1 TRIM33 TSPAN2 ENSG00000228035 LOC105378914
GH01I114580 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 14 +114.1 114072 2.4 PKNOX1 FOXA2 ARNT ARID4B DMAP1 ZNF2 YY1 POLR2B ZNF766 CBX5 BCAS2 LOC105378914 TRIM33 AMPD1 DENND2C RSBN1 LOC105378913
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around AMPD1 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for AMPD1 Gene

Genomic Locations for AMPD1 Gene
chr1:114,673,090-114,695,618
(GRCh38/hg38)
Size:
22,529 bases
Orientation:
Minus strand
chr1:115,215,719-115,238,239
(GRCh37/hg19)

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

Protein Expression for AMPD1 Gene

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

Selected DME Specific Peptides for AMPD1 Gene

P23109:
  • RPHCGEAG
  • DADRVVY
  • PHRDFYN
  • DNYINGEY

Post-translational modifications for AMPD1 Gene

No Post-translational modifications

Other Protein References for AMPD1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for AMPD1 Gene

Gene Families for AMPD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

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 metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
Family:
  • Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family.
genes like me logo Genes that share domains with AMPD1: view

Function for AMPD1 Gene

Products:

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

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

Phenotypes From GWAS Catalog for AMPD1 Gene

Gene Ontology (GO) - Molecular Function for AMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003876 AMP deaminase activity EXP 1429593
GO:0016787 hydrolase activity IEA --
GO:0019239 deaminase activity IEA --
GO:0032036 myosin heavy chain binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMPD1: view
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

CRISPR Products

miRNA for AMPD1 Gene

miRTarBase miRNAs that target AMPD1

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for AMPD1 Gene

Localization for AMPD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMPD1 gene
Compartment Confidence
cytosol 5
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) 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:0009117 nucleotide metabolic process IEA --
GO:0009168 purine ribonucleoside monophosphate biosynthetic process IEA --
GO:0010033 response to organic substance IEA --
GO:0032264 IMP salvage IEA --
GO:0043101 purine-containing compound salvage 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

(12) 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, Investigational Nutra Enzyme, substrate 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603
Regadenoson Approved, Investigational Pharma Agonist Highly selective and low affinity A2A adenosine agonist 75
Cladribine Approved, Investigational Pharma Apoptosis inducer in CLL cells 81
Ammonia Approved Pharma 0

(4) Additional Compounds for AMPD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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

Drug Products

Transcripts for AMPD1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for AMPD1 Gene

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

Unigene Clusters for AMPD1 Gene

Adenosine monophosphate deaminase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of AMPD1 Gene:

AMPD1

SOURCE GeneReport for Unigene cluster for AMPD1 Gene:

Hs.89570

Evidence on tissue expression from TISSUES for AMPD1 Gene

  • Muscle(3.8)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMPD1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
 Mammalia AMPD1 33 34
  • 99.74 (n)
cow
(Bos Taurus)
 Mammalia AMPD1 33 34
  • 91.48 (n)
dog
(Canis familiaris)
 Mammalia AMPD1 33 34
  • 90.73 (n)
mouse
(Mus musculus)
 Mammalia Ampd1 33 16 34
  • 88.23 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia AMPD1 34
  • 88 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ampd1 33
  • 87.06 (n)
oppossum
(Monodelphis domestica)
 Mammalia AMPD1 34
  • 87 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AMPD1 33 34
  • 74.08 (n)
lizard
(Anolis carolinensis)
 Reptilia AMPD1 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ampd1 33
  • 70.6 (n)
zebrafish
(Danio rerio)
 Actinopterygii ampd1 33 34
  • 69.37 (n)
-- 33
worm
(Caenorhabditis elegans)
 Secernentea C34F11.3b 35
  • 47 (a)
C34F11.3a 35
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AMD1 34
  • 36 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 57 (a)
 OneToMany
Species where no ortholog for AMPD1 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs121912682 conflicting-interpretations-of-pathogenicity, uncertain-significance, Muscle AMP deaminase deficiency, not specified, Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] 114,677,465(-) C/G/T coding_sequence_variant, missense_variant
rs12566550 uncertain-significance, Muscle AMP deaminase deficiency 114,686,903(-) G/A coding_sequence_variant, missense_variant
rs139512772 uncertain-significance, Muscle AMP deaminase deficiency 114,688,673(-) G/A coding_sequence_variant, missense_variant
rs139582106 likely-pathogenic, Muscle AMP deaminase deficiency, not provided 114,684,278(-) C/A coding_sequence_variant, missense_variant
rs140176911 benign, uncertain-significance, not specified, Muscle AMP deaminase deficiency 114,677,902(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
esv28734 CNV loss 19812545
esv3587269 CNV loss 21293372
esv3587274 CNV loss 21293372

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)

Additional Variant Information for AMPD1 Gene

Human Gene Mutation Database (HGMD)
AMPD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMPD1

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

Disorders for AMPD1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myopathy due to myoadenylate deaminase deficiency
  • mmdd
adenosine monophosphate deaminase 1 deficiency
  • myopathy due to myoadenylate deaminase deficiency
glycogen storage disease v
  • gsd5
myopathy
  • muscular diseases
myopathy, myofibrillar, 4
  • mfm4
- 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

Additional Disease Information for AMPD1

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

Publications for AMPD1 Gene

  1. 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 (Scandinavian journal of medicine & science in sports 2010) 3 22 44 58
  2. Associations of polymorphisms of eight muscle- or metabolism-related genes with performance in Mount Olympus marathon runners. (PMID: 20044476) Tsianos GI … Ioannidis JP (Journal of applied physiology (Bethesda, Md. : 1985) 2010) 3 22 44 58
  3. 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 (Scandinavian journal of clinical and laboratory investigation 2009) 3 22 44 58
  4. Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. (PMID: 19353846) Teijeira S … Navarro C (Clinical neuropathology 2009) 3 22 44 58
  5. Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation. (PMID: 19427446) Taegtmeyer AB … Barton PJ (The American journal of cardiology 2009) 3 22 44 58

Products for AMPD1 Gene

Sources for AMPD1 Gene

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