|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:autosomal_dominant_polycystic_kidney_disease
|
|
gptkbp:discoveredBy
|
Peter C. Harris
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
polycystin-1
|
|
gptkbp:Entrez_Gene_ID
|
5310
|
|
gptkbp:expressedIn
|
gptkb:kidney
liver
pancreas
|
|
gptkbp:fullName
|
polycystic kidney disease 1
|
|
gptkbp:function
|
receptor activity
calcium ion binding
cell-cell and cell-matrix interactions
|
|
gptkbp:GOProcess
|
signal transduction
kidney development
cell adhesion
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9008
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PKD1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
PKD2
fibrocystin
|
|
gptkbp:length
|
4302 amino acids
|
|
gptkbp:locatedOnChromosome
|
16
16p13.3
|
|
gptkbp:mousePhenotype
|
perinatal lethality
liver cysts
cystic kidneys
|
|
gptkbp:mutationAssociatedWith
|
nonsense
deletion
insertion
missense
splicing
frameshift
renal cyst formation
|
|
gptkbp:numberOfExons
|
46
|
|
gptkbp:OMIM
|
601313
|
|
gptkbp:orthologInMouse
|
Pkd1
|
|
gptkbp:product
|
polycystin-1
|
|
gptkbp:proteinFamily
|
transmembrane domain
C-type lectin domain
GPS domain
Ig-like PKD domain
PKD gene family
receptor for egg jelly domain
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
gptkb:plasma_membrane
gptkb:primary_cilium
|
|
gptkbp:UniProtID
|
P98161
|
|
gptkbp:bfsParent
|
gptkb:chromosome_16_(human)
gptkb:chromosome_16
gptkb:chromosome_16p13.3
|
|
gptkbp:bfsLayer
|
7
|