InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PKD1

Summary

InnateDB Gene

IDBG-9930.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PKD1

Gene Name

polycystic kidney disease 1 (autosomal dominant)

Synonyms

PBP; Pc-1; TRPP1

Species

Homo sapiens

Ensembl Gene

ENSG00000008710

Encoded Proteins

IDBP-9932

polycystic kidney disease 1 (autosomal dominant)

IDBP-364853

polycystic kidney disease 1 (autosomal dominant)

IDBP-751623

IDBP-751304

IDBP-752488

IDBP-745877

IDBP-752039

IDBP-747946

IDBP-750367

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 16:2088710-2135898

Strand

Reverse strand

Band

p13.3

Transcripts

ENST00000262304	ENSP00000262304
ENST00000423118	ENSP00000399501
ENST00000415938
ENST00000472577
ENST00000487932	ENSP00000457132
ENST00000485120
ENST00000472659
ENST00000483731
ENST00000496574
ENST00000486339
ENST00000471603
ENST00000480227
ENST00000469851
ENST00000483814
ENST00000474088
ENST00000475889
ENST00000483558
ENST00000483024	ENSP00000456670
ENST00000473780
ENST00000488185	ENSP00000456672
ENST00000468674
ENST00000469241
ENST00000562297
ENST00000565639
ENST00000569983
ENST00000568796
ENST00000564865
ENST00000567946	ENSP00000457984
ENST00000570150
ENST00000570193
ENST00000566784
ENST00000564890
ENST00000564313
ENST00000561991
ENST00000561668	ENSP00000461391
ENST00000568591	ENSP00000457162
ENST00000567355
ENST00000566905
ENST00000570253
ENST00000562425	ENSP00000455753

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 32 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	32 [view]
Protein-Protein	28 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005261	cation channel activity
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:0007156	homophilic cell adhesion
GO:0007160	cell-matrix adhesion
GO:0007161	calcium-independent cell-matrix adhesion
GO:0007204	positive regulation of cytosolic calcium ion concentration
GO:0007218	neuropeptide signaling pathway
GO:0007259	JAK-STAT cascade
GO:0007507	heart development
GO:0009653	anatomical structure morphogenesis
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:0005887	integral component of 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

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000032855

View Gene Order

ENSBTAG00000020619

Not yet available

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.559245 Hs.569615 Hs.578873 Hs.634612 Hs.75813

RefSeq

NM_000296 NM_001009944 XM_005255370

HUGO

OMIM

CCDS

CCDS32369 CCDS45385

HPRD

03203

IMGT

EMBL

GenPept

RNA Seq Atlas