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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
    genome feature 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 ENSMUSG00200018514
 protein coding gene Chr1:17529114-18086283 (-)
A/J ENSMUSG00195027103
 protein coding gene Chr1:17312783-17850255 (-)
AKR/J ENSMUSG00220008061
 protein coding gene Chr1:17352564-17893904 (-)
BALB/cJ ENSMUSG00180023091
 protein coding gene Chr1:17379052-17916475 (-)
C3H/HeJ ENSMUSG00175000101
 protein coding gene Chr1:17308986-17845825 (-)
C57BL/6NJ ENSMUSG00215008430
 protein coding gene Chr1:17361115-17938604 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0013981
 protein coding gene Chr1:15678726-16177378 (-)
CAST/EiJ ENSTCUG00005021943
 protein coding gene Chr1:17642699-18169592 (-)
CBA/J ENSMUSG00210002652
 protein coding gene Chr1:17184767-17722172 (-)
DBA/2J ENSMUSG00185003742
 protein coding gene Chr1:18213035-18766430 (-)
FVB/NJ ENSMUSG00205014098
 protein coding gene Chr1:17300150-17845361 (-)
JF1/MsJ ENSUMUG00000013768
 protein coding gene Chr1:17467789-17997010 (-)
LP/J ENSMUSG00230016400
 protein coding gene Chr1:18224788-18773424 (-)
NOD/ShiLtJ ENSMUSG00190024162
 protein coding gene Chr1:17290618-17827986 (-)
NZO/HlLtJ ENSMUSG00225000307
 protein coding gene Chr1:21592485-22145878 (-)
PWK/PhJ ENSLUMG00010021621
 protein coding gene Chr1:17095489-17628685 (-)
SPRET/EiJ no annotation
WSB/EiJ ENSIUOG00005011304
 protein coding gene Chr1:17266504-17819200 (-)



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
    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
    9 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    68 phenotypes from 12 alleles in 16 genetic backgrounds
    14 phenotypes from multigenic genotypes
    1 images
    37 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
    70
  • 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
    793
  • Tissues
    68
  • cDNA Data
    14
  • Literature Summary
    19
  • 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 22
      Genomic 1
      cDNA 16
      Primer pair 4
      Other 1
      Antibodies 5

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138159, MGI:2138168
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 19
      Diseases 10
      Gene Ontology 16
      Phenotypes 37
    • 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:391384 Ishimoto Y, et al., Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities. Nat Commun. 2026 Jul 23;17(1)
    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)
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    Funding Information
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    09/15/2026
    MGI 6.29     		The Jackson Laboratory