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Pkhd1 Gene Detail
Summary
  • Symbol
    Pkhd1
  • Name
    polycystic kidney and hepatic disease 1
  • Synonyms
    FPC, tigmin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2155808
    NCBI Gene: 241035
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:20128003-20688288 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 6.27 cM, cytoband A2-A5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    17141 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2155808
 protein coding gene Chr1:20128003-20688306 (-)
129S1/SvImJ MGP_129S1SvImJ_G0015869
 protein coding gene Chr1:17674548-18227449 (-)
A/J MGP_AJ_G0015850
 protein coding gene Chr1:17465631-18015214 (-)
AKR/J MGP_AKRJ_G0015809
 protein coding gene Chr1:17451544-18035720 (-)
BALB/cJ MGP_BALBcJ_G0015806
 protein coding gene Chr1:17134402-17692513 (-)
C3H/HeJ MGP_C3HHeJ_G0015640
 protein coding gene Chr1:17520775-18081141 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016260
 protein coding gene Chr1:18495092-19096464 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0013981
 protein coding gene Chr1:15678726-16177378 (-)
CAST/EiJ MGP_CASTEiJ_G0015221
 protein coding gene Chr1:17613219-18174250 (-)
CBA/J MGP_CBAJ_G0015613
 protein coding gene Chr1:18918628-19522432 (-)
DBA/2J MGP_DBA2J_G0015712
 protein coding gene Chr1:16983462-17513955 (-)
FVB/NJ MGP_FVBNJ_G0015717
 protein coding gene Chr1:16765164-17284340 (-)
LP/J MGP_LPJ_G0015784
 protein coding gene Chr1:17901935-18461940 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015735
 protein coding gene Chr1:19879861-20484159 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016307
 protein coding gene Chr1:17477066-18031908 (-)
PWK/PhJ MGP_PWKPhJ_G0015005
 protein coding gene Chr1:16740174-17274635 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014786
 protein coding gene Chr1:17566404-18133719 (-)
WSB/EiJ MGP_WSBEiJ_G0015284
 protein coding gene Chr1:17413591-17951972 (-)



Homology
more
  • Human Ortholog
    PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PKHD1, PKHD1 ciliary IPT domain containing fibrocystin/polyductin
  • Synonyms
    ARPKD, FCYT, FPC, PCYT, PKD4, TIGM1
  • Links
    NCBI Gene ID: 5314
    neXtProt AC: NX_P08F94
    UniProt: P08F94

  • Chr Location
    6p12.3-p12.2; chr6:51615299-52087615 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Pkhd1 mouse models; 2 with human PKHD1 associations

Human Disease Mouse Models
      
IDs
 View 6 models
IDs
 View 2 models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    9 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    63 phenotypes from 11 alleles in 15 genetic backgrounds
    10 phenotypes from multigenic genotypes
    1 images
    29 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.
Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    16
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
    808
  • Tissues
    26
  • cDNA Data
    12
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000043760 Ensembl Gene Model | MGI Sequence Detail 560286 C57BL/6J ±  kb
    transcript ENSMUST00000088448 Ensembl | MGI Sequence Detail 12935 Not Applicable  
    polypeptide ENSMUSP00000085794 Ensembl | MGI Sequence Detail 4059 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      Genomic 1
      cDNA 13
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138159, MGI:2138168
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 18
      Diseases 9
      Gene Ontology 16
      Phenotypes 29
    • Earliest
      J:78807 Xiong H, et al., A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease. Genomics. 2002 Jul;80(1):96-104
    • Latest
      J:346701 Fox JC, et al., Defects of renal tubular homeostasis and cystogenesis in the Pkhd1 knockout. iScience. 2024 Apr 19;27(4):109487
    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