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Pkd1 Gene Detail
Summary
  • Symbol
    Pkd1
  • Name
    polycystic kidney disease 1 homolog
  • Synonyms
    PC1, PC-1, polycystin-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97603
    NCBI Gene: 18763
  • Gene Overview
    MyGene.info: PKD1
Location & Maps
more
  • Sequence Map
    Chr17:24549950-24596514 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46565 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 12.40 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    PKD1, polycystin 1, transient receptor potential channel interacting
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PKD1, polycystin 1, transient receptor potential channel interacting
    Orthology source: HomoloGene
  • Synonyms
    PBP, Pc-1, TRPP1
  • Links
    NCBI Gene ID: 5310
    neXtProt AC: NX_P98161

  • Chr Location
    16p13.3; chr16:2088708-2135898 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Pkd1 mouse models; 1 with human PKD1 associations

Human Disease Mouse Models
       Polycystic Kidney Disease 1; PKD1   OMIM: 173900 View 23 models
       Polycystic Kidney Disease, Autosomal Recessive; ARPKD   OMIM: 263200 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    20 with disease annotations
  • References
    33 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    205 phenotypes from 35 alleles in 41 genetic backgrounds
    17 phenotypes from multigenic genotypes
    35 images
    120 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    42
  • Chemically induced (ENU)
    2
  • Gene trapped
    3
  • Targeted
    33
  • Transgenic
    4
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    224 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 35
    Genomic 7
    cDNA 17
    Primer pair 9
    Other 2

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-13335
References
more
  • Summaries
    All 195
    Developmental Gene Expression 43
    Diseases 33
    Gene Ontology 25
    Phenotypes 120
  • 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:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory