|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:DSCR1
Adapt78
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:Down_syndrome
cardiac hypertrophy
|
|
gptkbp:component
|
gptkb:nucleus
gptkb:cytoplasm
|
|
gptkbp:discoveredBy
|
Fuentes et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
RCAN1 protein
|
|
gptkbp:Entrez_Gene_ID
|
1827
ENSG00000159216
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:fullName
|
Regulator of calcineurin 1
|
|
gptkbp:function
|
protein phosphatase inhibitor activity
inhibits calcineurin
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
negative regulation of calcineurin-NFAT signaling
|
|
gptkbp:hasParalog
|
RCAN2
RCAN3
|
|
gptkbp:hasTranscriptVariant
|
RCAN1-1
RCAN1-4
RCAN1-5
|
|
gptkbp:HGNC_ID
|
HGNC:2886
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RCAN1
|
|
gptkbp:interactsWith
|
gptkb:14-3-3_proteins
gptkb:GSK3B
calcineurin
NFATc proteins
|
|
gptkbp:length
|
7 exons
252 amino acids (isoform 1)
|
|
gptkbp:locatedOnChromosome
|
chromosome 21
|
|
gptkbp:mutationAssociatedWith
|
implicated in neurodegeneration
affects neuronal development
|
|
gptkbp:OMIM
|
602917
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Rcan1
|
|
gptkbp:proteinFamily
|
RCAN family
|
|
gptkbp:regulates
|
upregulated by oxidative stress
upregulated by glucocorticoids
NFAT signaling pathway
upregulated by VEGF
|
|
gptkbp:UniProtID
|
O14983
|
|
gptkbp:bfsParent
|
gptkb:human_chromosome_21
|
|
gptkbp:bfsLayer
|
7
|