AMPD3 (adenosine monophosphate deaminase 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
272
Gene name Gene Name - the full gene name approved by the HGNC.
Adenosine monophosphate deaminase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AMPD3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0003876 Function AMP deaminase activity IBA 21873635
GO:0005515 Function Protein binding IPI 25910212
GO:0005576 Component Extracellular region TAS
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol TAS
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
102772 470 ENSG00000133805
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Erythrocyte amp deaminase deficiency Erythrocyte Amp Deaminase Deficiency rs3741040 11139257, 8004104, 7881427, 9598089
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 20713499 ClinVar
Muscle amp deaminase deficiency Muscle AMP deaminase deficiency 11139257, 8004104 ClinVar
Hypertension Hypertension GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Show/Hide Text Mining Associations (10)
Associations from Text Mining
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