Pkd1
Gene Detail

Symbol Name ID

Pkd1 polycystic kidney disease 1 homolog MGI:97603

Synonyms

PC1, PC-1, polycystin-1

Feature Type

protein coding gene

Genetic Map

Chromosome 17

12.40 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)

Sequence Map

Chr17:24549950-24596514 bp, + strand From NCBI annotation of GRCm38   46565 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:250  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Pkd1

Human homologs

Human Homolog		PKD1, polycystic kidney disease 1 (autosomal dominant)
NCBI Gene ID		5310
neXtProt AC		NX_P98161
Human Synonyms		PBP, Pc-1, TRPP1
Human Chr (Location)		16p13.3; chr16:2138711-2185899 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PKD1

Alleles and phenotypes

All alleles(35) : Targeted(31) Gene trapped(3) Chemically induced(1)
 

Homozygous mutant embryos begin to die after embryonic day (E) 14.5. They develop edema by E13.5, pancreatic cysts by E15.5 and kidney cysts by E16.5. Heterozygous adults develop cysts of the kidneys (~20-30%) and the liver (~10%) late in life.

 
Human Diseases Modeled Using Mouse Pkd1 (2)    Alleles Annotated to Human Diseases(16)    Phenotype Images(6)

Gene Ontology (GO) classifications

All GO classifications: (53 annotations)

Process	blood vessel development, branching morphogenesis of an epithelial tube, ...
Component	basolateral plasma membrane, cell projection, ...
Function	calcium channel activity, carbohydrate binding, ...

External Resources: FuncBase

Expression

Literature Summary: (39 records)
Data Summary: Results (282)    Tissues (198)    Images (74)
Theiler Stages: 1, 3, 5, 9, 15, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	5
RNA in situ	178
In situ reporter (knock in)	46
Northern blot	9
Western blot	6
RT-PCR	38

cDNA source data(15)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(34) Genomic(7) cDNA(16) Primer pair(9) Other(2)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000032855 (Evidence)
Entrez Gene	18763 (Evidence)
DFCI	TC1576604, TC1596137, TC1688854
NIA Mouse Gene Index	U017643
Consensus CDS Project	CCDS28485.1
International Mouse Knockout Project Status	Pkd1

Sequences

Length	Strain/Species
genomic	18763	NCBI Gene Model | MGI Sequence Detail	46565	C57BL/6J
transcript	NM_013630	RefSeq | MGI Sequence Detail	14170	C57BL/6
polypeptide	O08852	UniProt | EBI | MGI Sequence Detail	4293	Not Applicable

All sequences(26) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(112 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002889	Carbohydrate-binding WSC
InterPro	IPR013994	Carbohydrate-binding WSC, subgroup
InterPro	IPR001304	C-type lectin
InterPro	IPR016187	C-type lectin fold
InterPro	IPR016186	C-type lectin-like
InterPro	IPR000483	Cysteine-rich flanking region, C-terminal
InterPro	IPR014010	Egg jelly receptor, REJ-like
InterPro	IPR000203	GPS domain
InterPro	IPR001611	Leucine-rich repeat
InterPro	IPR000372	Leucine-rich repeat-containing N-terminal
InterPro	IPR003591	Leucine-rich repeat, typical subtype
InterPro	IPR008976	Lipase/lipooxygenase, PLAT/LH2
InterPro	IPR001024	Lipoxygenase, LH2
InterPro	IPR022409	PKD/Chitinase domain
InterPro	IPR000601	PKD domain
InterPro	IPR002859	PKD/REJ-like protein
InterPro	IPR000434	Polycystic kidney disease type 1 protein
InterPro	IPR006228	Polycystin cation channel
InterPro	IPR013122	Polycystin cation channel, PKD1/PKD2
Protein Ontology	PR:000012769	polycystin-1

Graphical View of Protein Domain Structure

References

(Earliest) J:490 Himmelbauer H, et al., Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1). Genomics. 1992 May;13(1):35-8
(Latest) J:194970 Khonsari RH, et al., Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2). Hum Mol Genet. 2013 May 1;22(9):1873-85
All references(155)

Other accession IDs

MGD-MRK-13335