pkd1 Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description polycystic kidney disease 1 (autosomal dominant)|This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] (NCBI Entrez Gene Database, 5310)
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Genes

40 genes co-occuring with the biological term pkd1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AR androgen receptor
BIRC5 baculoviral IAP repeat containing 5
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CREB1 cAMP responsive element binding protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DKK3 dickkopf WNT signaling pathway inhibitor 3
EGFR epidermal growth factor receptor
F2R coagulation factor II (thrombin) receptor
F2RL1 coagulation factor II (thrombin) receptor-like 1
HDAC6 histone deacetylase 6
HDAC7 histone deacetylase 7
HSPB1 heat shock 27kDa protein 1
ID2 inhibitor of DNA binding 2, dominant negative helix-loop-helix protein
IVL involucrin
KIDINS220 kinase D-interacting substrate, 220kDa
KRT10 keratin 10, type I
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NTS neurotensin
PAK4 p21 protein (Cdc42/Rac)-activated kinase 4
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PDK2 pyruvate dehydrogenase kinase, isozyme 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PRKCD protein kinase C, delta
PRKD1 protein kinase D1
PRKD2 protein kinase D2
RHOA ras homolog family member A
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SNAI1 snail family zinc finger 1
SP1 Sp1 transcription factor
SPRY2 sprouty homolog 2 (Drosophila)
TP53 tumor protein p53
TSC2 tuberous sclerosis 2
VASP vasodilator-stimulated phosphoprotein
VEGFA vascular endothelial growth factor A