Bos taurus Gene: PKD1
Summary
InnateDB Gene IDBG-635133.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PKD1
Gene Name Uncharacterized protein
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000020619
Encoded Proteins
polycystic kidney disease 1 (autosomal dominant)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000008710:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 25:1627978-1666088
Strand Reverse strand
Band
Transcripts
ENSBTAT00000027480 ENSBTAP00000027480
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.
Predicted by orthology
Total 23 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0019904 protein domain specific binding
GO:0030246 carbohydrate binding
GO:0044325 ion channel binding
Biological Process
GO:0001502 cartilage condensation
GO:0001568 blood vessel development
GO:0001701 in utero embryonic development
GO:0001822 kidney development
GO:0001889 liver development
GO:0001892 embryonic placenta development
GO:0006611 protein export from nucleus
GO:0006807 nitrogen compound metabolic process
GO:0006816 calcium ion transport
GO:0007050 cell cycle arrest
GO:0007218 neuropeptide signaling pathway
GO:0007259 JAK-STAT cascade
GO:0007507 heart development
GO:0016337 single organismal cell-cell adhesion
GO:0018105 peptidyl-serine phosphorylation
GO:0021510 spinal cord development
GO:0021915 neural tube development
GO:0031659 positive regulation of cyclin-dependent protein kinase activity involved in G1/S
GO:0032092 positive regulation of protein binding
GO:0034405 response to fluid shear stress
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0043588 skin development
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048565 digestive tract development
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048806 genitalia development
GO:0050982 detection of mechanical stimulus
GO:0051216 cartilage development
GO:0060236 regulation of mitotic spindle organization
GO:0060428 lung epithelium development
GO:0060674 placenta blood vessel development
GO:0061136 regulation of proteasomal protein catabolic process
GO:0070588 calcium ion transmembrane transport
GO:0072001 renal system development
GO:0072164 mesonephric tubule development
GO:0072177 mesonephric duct development
GO:0072205 metanephric collecting duct development
GO:0072218 metanephric ascending thin limb development
GO:0072237 metanephric proximal tubule development
GO:0072287 metanephric distal tubule morphogenesis
Cellular Component
GO:0002133 polycystin complex
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0031512 motile primary cilium
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq XM_003584004 XM_003587798
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas