About   Help   FAQ
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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 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; chr16:2088708-2135898 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human PKD1
Mutations,
alleles, and
phenotypes
All mutations/alleles(36) : Chemically induced (ENU)(2) Gene trapped(3) Targeted(31)
Incidental mutations (data from Mutagenetix , APF )
 
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(18)    Phenotype Images(35)
Interactions
Pkd1 interacts with 306 markers (Mir1a-1, Mir1b, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (66 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: (40 records)
Data Summary: Results (280)    Tissues (205)    Images (77)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 178
In situ reporter (knock in) 46
Northern blot 9
Western blot 6
RT-PCR 36
cDNA source data(15)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(34) Genomic(7) cDNA(16) Primer pair(9) Other(2)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000032855 (Evidence)
Entrez Gene18763 (Evidence)
DFCITC1576604, TC1596137, TC1688854
NIA Mouse Gene IndexU017643
Consensus CDS ProjectCCDS28485.1
International Mouse Knockout Project StatusPkd1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 18763 NCBI Gene Model | MGI Sequence Detail 46565 C57BL/6J ±  kb
transcript NM_013630 RefSeq | MGI Sequence Detail 14170 C57BL/6 
polypeptide O08852 UniProt | EBI | MGI Sequence Detail 4293 Not Applicable 

For the selected sequences
All sequences(70) RefSeq(42) UniProt(9)
Polymorphisms
RFLP(1) : SNPs within 2kb(225 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:214729 Su X, et al., Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Hum Mol Genet. 2014 Oct 15;23(20):5441-51
All references(175)
Disease annotation references (25)
Other
accession IDs
MGD-MRK-13335

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
12/16/2014
MGI 5.20
The Jackson Laboratory