AMPD1 (adenosine monophosphate deaminase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 270
Gene name Adenosine monophosphate deaminase 1
Gene symbol AMPD1
Synonyms (NCBI Gene)
MADMADAMMDD
Chromosome 1
Chromosome location 1p13.2
Summary 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.
9
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.
2
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
102770 468 ENSG00000116748
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Muscle AMP deaminase deficiency Likely pathogenic rs1657881990 RCV001332120
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (16)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADENOSINE MONOPHOSPHATE DEAMINASE DEFICIENCY — GenCC
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPD1-related disorder Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; other ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Uncertain significance; Likely benign ClinVar
GWAS catalog
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
AUTISTIC DISORDER — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (100)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 18493233
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 18493233
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenosine monophosphate deaminase deficiency Adenosine Monophosphate Deaminase Deficiency CTD_human_DG 10996775, 11102975, 1631143
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adenosine monophosphate deaminase deficiency Myoadenylate deaminase deficiency Pubtator 28751290, 29095874 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adenosine monophosphate deaminase deficiency Adenosine Monophosphate Deaminase Deficiency ORPHANET_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adenosine monophosphate deaminase deficiency Adenosine Monophosphate Deaminase Deficiency Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 28668386
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 16947783 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 7585143
★★★★★
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 28097908
★★★★★
★☆☆☆☆
Found in Text Mining only