|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:MDA5
gptkb:RH116
Helicard
Melanoma differentiation-associated protein 5
|
|
gptkbp:associatedWith
|
gptkb:systemic_lupus_erythematosus
gptkb:Aicardi-Goutières_syndrome
type 1 diabetes
autoimmune diseases
|
|
gptkbp:biologicalProcess
|
RNA binding
ATP binding
defense response to virus
interferon-beta production
|
|
gptkbp:discoveredBy
|
Yoneyama et al.
|
|
gptkbp:encodes
|
gptkb:MDA5_protein
|
|
gptkbp:Entrez_Gene_ID
|
64135
ENSG00000115267
|
|
gptkbp:expressedIn
|
immune cells
|
|
gptkbp:firstDescribed
|
2002
|
|
gptkbp:fullName
|
interferon induced with helicase C domain 1
|
|
gptkbp:function
|
innate immune response
viral RNA recognition
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
18873
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
IFIH1
|
|
gptkbp:interactsWith
|
gptkb:MAVS
viral double-stranded RNA
|
|
gptkbp:locatedOnChromosome
|
gptkb:2q24.2
|
|
gptkbp:location
|
chromosome 2: 162,844,944-162,882,058 (GRCh38)
|
|
gptkbp:mutationAssociatedWith
|
increased risk of autoimmune disease
protection against type 1 diabetes
|
|
gptkbp:OMIM
|
606951
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Ifih1
|
|
gptkbp:pathway
|
gptkb:RIG-I-like_receptor_signaling_pathway
|
|
gptkbp:product
|
gptkb:MDA5
|
|
gptkbp:proteinFamily
|
gptkb:CARD_domain
C-terminal domain
helicase domain
|
|
gptkbp:regulates
|
induced by interferon
regulated by viral infection
|
|
gptkbp:significance
|
autoimmunity
viral infection susceptibility
|
|
gptkbp:subcellularLocation
|
gptkb:cytoplasm
cytosol
|
|
gptkbp:UniProtID
|
gptkb:Q9BYX4
|
|
gptkbp:bfsParent
|
gptkb:MDA5
|
|
gptkbp:bfsLayer
|
8
|