Gene table of NHLRC1 : NHL repeat containing E3 ubiquitin protein ligase 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with NHLRC1OMIM linkNumber of associated genesgenes
PS254800EPILEPSY, PROGRESSIVE MYOCLONICClinVar, OMIM, HUMSAVAR link to OMIM 12CERS1, PRICKLE1, KCTD7, SCARB2, CSTB, TBC1D24, PRDM8, LMNB2, NHLRC1, KCNC1, GOSR2, EPM2A

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Annotation of the gene NHLRC1

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
Ubiquitin mediated proteolysishsa041205.63
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Glycogen storage diseasesR-HSA-32291219.52
Metabolism of carbohydratesR-HSA-713874.93
Myoclonic epilepsy of LaforaR-HSA-37856539.52
Diseases of carbohydrate metabolismR-HSA-56630848.28
Diseases of metabolismR-HSA-56689146.57
Glycogen synthesisR-HSA-33220779.08
MetabolismR-HSA-14307282.34
DiseaseR-HSA-16436853.33
Glucose metabolismR-HSA-703266.77
Associated GO terms for Molecular function
GO termGO IDGO IC
ubiquitin-like protein transferase activityGO:00197873.69
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
ubiquitin-protein transferase activityGO:00048423.73
ubiquitin protein ligase activityGO:00616304.47
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
bindingGO:00054880.18
protein bindingGO:00055150.46
ubiquitin-like protein ligase activityGO:00616594.44
metal ion bindingGO:00468721.41
ligase activityGO:00168743.72
zinc ion bindingGO:00082702.66