AMPD1 (adenosine monophosphate deaminase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
270
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine monophosphate deaminase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMPD1
Synonyms (NCBI Gene) Gene synonyms aliases
MAD, MADA, MMDD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.2
Summary Summary of gene provided in NCBI Entrez 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 isofor
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs34526199 T>A Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
rs35859650 G>A Pathogenic, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs61752478 C>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121912682 C>G,T Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant
rs139582106 C>A Likely-pathogenic, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT051077 hsa-miR-16-5p CLASH 23622248
MIRT047529 hsa-miR-10a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0003876 Function AMP deaminase activity IBA
GO:0003876 Function AMP deaminase activity IEA
GO:0003876 Function AMP deaminase activity IMP 11102975
GO:0003876 Function AMP deaminase activity ISS
GO:0003876 Function AMP deaminase activity TAS 644316
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102770 468 ENSG00000116748
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P23109
Protein name AMP deaminase 1 (EC 3.5.4.6) (AMP deaminase isoform M) (Myoadenylate deaminase)
Protein function AMP deaminase plays a critical role in energy metabolism.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00962 A_deaminase 329 → 736 Adenosine/AMP deaminase Domain
Sequence 
MNVRIFYSVSQSPHSLLSLLFYCAILESRISATMPLFKLPAEEKQIDDAMRNFAEKVFAS
EVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETLSTSTEARRKKRFQGRKTVNLSIP
LSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIR
EKYMQKSFQRFPKTPSKYLRNIDGEAWVANESFYPVFTPPVKKGEDPFRTDNLPENLGYH
LKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFL
SSKFQVHQMLNEMDELKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDA
DRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASEL
RDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNR
IHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATINPQADPELSVFLKHIT
GFDSVDDESKHSGHMFSSKSPKPQEWTLEKNPSYTYYAYYMYANIMVLNSLRKERGMNTF
LFRPHCGEAGALTHLMTAFMIADDISHGLNLKKSPVLQYLFFLAQIPIAMSPLSNNSLFL
EYAKNPFLDFLQKGLMISLSTDDPMQFHFTKEPLMEEYAIAAQVFKLSTCDMCEVARNSV
LQCGISHEEKVKFLGDNYLEEGPAGNDIRRTNVAQIRMAYRYETWCYELNLIAEGLKSTE
Sequence length 780
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Purine metabolism
Metabolic pathways
Nucleotide metabolism
Cytoskeleton in muscle cells 		  Purine salvage
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
autism Autism N/A N/A ClinVar
Muscle AMP Deaminase Deficiency muscle amp deaminase deficiency N/A N/A ClinVar
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37116150
Adenosine monophosphate deaminase deficiency Associate 28751290, 29095874
Arthritis Rheumatoid Associate 16947783
Cardiovascular Diseases Associate 21108053
Colitis Ulcerative Associate 33323040
Colorectal Neoplasms Associate 35093172
Coronary Artery Disease Associate 11028479, 17376785, 21108053
Cystic Fibrosis Associate 27572404
Death Associate 11028479
Diabetes Mellitus Associate 21108053