AMPD3 (adenosine monophosphate deaminase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 272
Gene name Adenosine monophosphate deaminase 3
Gene symbol AMPD3
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11p15.4
Summary This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway.
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs3741040 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
600
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (600)
miRTarBase ID miRNA Experiments Reference
MIRT018876 hsa-miR-335-5p Microarray 18185580
MIRT609672 hsa-miR-543 HITS-CLIP 23313552
MIRT609671 hsa-miR-8485 HITS-CLIP 23313552
MIRT609670 hsa-miR-3143 HITS-CLIP 23313552
MIRT613555 hsa-miR-548ac HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (20)
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 ISS
GO:0003876 Function AMP deaminase activity TAS
GO:0005515 Function Protein binding IPI 25910212, 32296183
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
102772 470 ENSG00000133805
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.
Q01432
Protein name AMP deaminase 3 (EC 3.5.4.6) (AMP deaminase isoform E) (Erythrocyte AMP 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 310 → 717 Adenosine/AMP deaminase Domain
Sequence 
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQ
KELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLP
TPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQY
LGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEH
QEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKEL
KSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFD
GLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARM
VKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIF
RSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDK
SPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAF
LTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSL
STDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYY
KEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN
Sequence length 767
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 		  Neutrophil degranulation
Purine salvage
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
138
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AMPD3-related disorder Pathogenic rs3741040 RCV003952365
Erythrocyte AMP deaminase deficiency Likely pathogenic; Pathogenic rs2539574847, rs3741040 RCV003990798
RCV000019932
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Uncertain significance rs376493129 RCV005891937
Lung cancer Uncertain significance rs202231572 RCV005892076
Myoepithelial tumor Uncertain significance rs764421503 RCV002463889
Uterine corpus endometrial carcinoma Uncertain significance rs776606981 RCV005913694
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carotid Stenosis Associate 35020748
Colitis Ulcerative Associate 19253308
Crohn Disease Associate 19253308
Dental Plaque Associate 35020748
Heart Failure Associate 32892688
Inflammation Associate 19253308
Inflammatory Bowel Diseases Associate 19253308
Neoplasms Inhibit 35241525
Ovarian Neoplasms Associate 31775891
Squamous Cell Carcinoma of Head and Neck Inhibit 35241525