Gene table of PRF1 : perforin 1

Gene-disease associations table

Disease IDDisease nameSource of annotation with PRF1OMIM linkNumber of associated genesgenes
605027LYMPHOMA, NON-HODGKIN, FAMILIALClinVar, OMIM link to OMIM 7BRAF, RAD54B, BCL10, PRF1, CASP10, TP53, RAD54L
603553HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2ClinVar, OMIM, HUMSAVAR link to OMIM 1PRF1
609135APLASTIC ANEMIAOMIM link to OMIM 4NBN, PRF1, IFNG, SBDS

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Annotation of the gene PRF1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Natural killer cell mediated cytotoxicityhsa046505.53
Autoimmune thyroid diseasehsa053206.62
Allograft rejectionhsa053306.91
Graft-versus-host diseasehsa053326.84
Type I diabetes mellitushsa049406.79
Viral myocarditishsa054166.45
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
bindingGO:00054880.18
cation bindingGO:00431691.4
transporter activityGO:00052152.57
ion bindingGO:00431671.36
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
calcium ion bindingGO:00055093.17
protein bindingGO:00055150.46
passive transmembrane transporter activityGO:00228033.6
metal ion bindingGO:00468721.41
wide pore channel activityGO:00228296.6