Version 5.4
Mus musculus Gene: Pkd1
Summary
InnateDB Gene IDBG-147323.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Pkd1
Gene Name polycystic kidney disease 1 homolog
Synonyms mFLJ00285; PC1
Species Mus musculus
Ensembl Gene ENSMUSG00000032855
Encoded Proteins
IDBP-147325
polycystic kidney disease 1 homolog
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 17:24549950-24596514
Strand Forward strand
Band A3.3
Transcripts
ENSMUST00000035565 ENSMUSP00000049296
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 18 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein-Protein 11 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 18 [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:0007204 positive regulation of cytosolic calcium ion concentration
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:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005929 cilium
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016328 lateral plasma membrane
GO:0031512 motile primary cilium
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000008710
View Gene Order
ENSBTAG00000020619
Not yet available
Cross-References
SwissProt O08852
TrEMBL Q3TTV4 Q9CUT4
UniProt Splice Variant
Entrez Gene 18763
UniGene Mm.290442
RefSeq NM_013630 XM_006523841 XM_006523842 XM_006523843 XM_006523844 XM_006523845 XM_006523846 XM_006523847
OMIM
CCDS CCDS28485
HPRD
IMGT
MGI ID MGI:97603
MGI Symbol Pkd1
EMBL AC132367 AK014622 AK161158 U70209
GenPept AAC53207 BAB29468 BAE36220
RNA Seq Atlas 18763

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca