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Pkd1 Gene Detail
Summary
  • Symbol
    Pkd1
  • Name
    polycystin 1, transient receptor potential channel interacting
  • Synonyms
    PC-1, PC1, polycystin-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97603
    NCBI Gene: 18763
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:24768808-24815482 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 12.40 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    861 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97603
 protein coding gene Chr17:24767657-24815482 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023307
 protein coding gene Chr17:23541519-23593397 (+)
A/J MGP_AJ_G0023267
 protein coding gene Chr17:22907173-22955268 (+)
AKR/J MGP_AKRJ_G0023234
 protein coding gene Chr17:22986571-23034857 (+)
BALB/cJ MGP_BALBcJ_G0023272
 protein coding gene Chr17:23094119-23141333 (+)
C3H/HeJ MGP_C3HHeJ_G0023032
 protein coding gene Chr17:23340893-23393488 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023716
 protein coding gene Chr17:24595393-24644993 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021192
 protein coding gene Chr17:20378233-20427680 (+)
CAST/EiJ MGP_CASTEiJ_G0022534
 protein coding gene Chr17:23185846-23237646 (+)
CBA/J MGP_CBAJ_G0023008
 protein coding gene Chr17:25434387-25487179 (+)
DBA/2J MGP_DBA2J_G0023137
 protein coding gene Chr17:22498833-22546215 (+)
FVB/NJ MGP_FVBNJ_G0023107
 protein coding gene Chr17:22214786-22265862 (+)
LP/J MGP_LPJ_G0023214
 protein coding gene Chr17:23852735-23905940 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023126
 protein coding gene Chr17:25145481-25195543 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023753
 protein coding gene Chr17:23261016-23310809 (+)
PWK/PhJ MGP_PWKPhJ_G0022283
 protein coding gene Chr17:21244867-21291809 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022102
 protein coding gene Chr17:21305218-21355329 (+)
WSB/EiJ MGP_WSBEiJ_G0022597
 protein coding gene Chr17:23331021-23381258 (+)



Homology
more
  • Human Ortholog
    PKD1, polycystin 1, transient receptor potential channel interacting
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKD1, polycystin 1, transient receptor potential channel interacting
  • Synonyms
    PBP, Pc-1, PC1, TRPP1
  • Links
    NCBI Gene ID: 5310
    neXtProt AC: NX_P98161
    UniProt: P98161

  • Chr Location
    16p13.3; chr16:2088708-2135898 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Pkd1 mouse models; 3 with human PKD1 associations

Human Disease Mouse Models
      
IDs
 View 27 models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    21 with disease annotations
  • References
    22 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    223 phenotypes from 36 alleles in 46 genetic backgrounds
    27 phenotypes from multigenic genotypes
    38 images
    256 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.
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
less
  • All GO Annotations
    108
  • GO References
    32
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1202
  • Tissues
    296
  • cDNA Data
    16
  • Literature Summary
    55
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032855 Ensembl Gene Model | MGI Sequence Detail 46675 C57BL/6J ±  kb
    transcript ENSMUST00000035565 Ensembl | MGI Sequence Detail 14164 Not Applicable  
    polypeptide ENSMUSP00000049296 Ensembl | MGI Sequence Detail 4293 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      Genomic 8
      cDNA 17
      Primer pair 11
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13335
    References
    more
    • Summaries
      All 372
      Developmental Gene Expression 55
      Diseases 22
      Gene Ontology 32
      Phenotypes 256
    • 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:351305 Zhu M, et al., PKD1 mutant clones within cirrhotic livers inhibit steatohepatitis without promoting cancer. Cell Metab. 2024 Jun 13;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory