Gene table of AMPD1 : adenosine monophosphate deaminase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with AMPD1OMIM linkNumber of associated genesgenes
615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCYClinVar, OMIM, HUMSAVAR link to OMIM 1AMPD1

Download the gene annotation in CSV format

Annotation of the gene AMPD1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Metabolic pathwayshsa011002.49
Purine metabolismhsa002305.28
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Purine salvageR-HSA-742179.28
Metabolism of nucleotidesR-HSA-158696.7
MetabolismR-HSA-14307282.34
Purine metabolismR-HSA-738477.94
Associated GO terms for Molecular function
GO termGO IDGO IC
myosin heavy chain bindingGO:00320367.25
hydrolase activityGO:00167871.9
cytoskeletal protein bindingGO:00080923.02
hydrolase activity, acting on carbon-nitrogen (but not peptide) bondsGO:00168104.76
myosin bindingGO:00170225.66
cation bindingGO:00431691.4
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidinesGO:00168146.21
ion bindingGO:00431671.36
GO:00476238.64
catalytic activityGO:00038241.05
deaminase activityGO:00192396.24
bindingGO:00054880.18
protein bindingGO:00055150.46
metal ion bindingGO:00468721.41
GO:00038768.64