Gene table of SAMHD1 : SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with SAMHD1OMIM linkNumber of associated genesgenes
PS610448CHILBLAIN LUPUSClinVar, OMIM, HUMSAVAR link to OMIM 2TREX1, SAMHD1
PS225750AICARDI-GOUTIERES SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 7IFIH1, RNASEH2B, RNASEH2C, RNASEH2A, ADAR, TREX1, SAMHD1

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Annotation of the gene SAMHD1

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
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Interferon SignalingR-HSA-9135314.95
Cytokine Signaling in Immune systemR-HSA-12802153.74
Immune SystemR-HSA-1682562.37
Interferon alpha/beta signalingR-HSA-9097336.04
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
triphosphoric monoester hydrolase activityGO:00167939.74
phosphoric ester hydrolase activityGO:00425783.82
zinc ion bindingGO:00082702.66
nucleic acid bindingGO:00036761.44
nucleotide bindingGO:00001661.96
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
ion bindingGO:00431671.36
guanyl deoxyribonucleotide bindingGO:00325609.74
dGTP bindingGO:00325679.74
purine nucleotide bindingGO:00170762.19
metal ion bindingGO:00468721.41
dGTPase activityGO:00088329.74
hydrolase activityGO:00167871.9
hydrolase activity, acting on ester bondsGO:00167883.1
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
guanyl nucleotide bindingGO:00190013.73
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
purine deoxyribonucleotide bindingGO:00325548.13
deoxyribonucleotide bindingGO:00325527.95