About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    Chr1:20057779-20618064 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      560286 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PKHD1, polycystic kidney and hepatic disease 1 (autosomal recessive)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    PKHD1, polycystic kidney and hepatic disease 1 (autosomal recessive)
    Orthology source: HomoloGene
  • Synonyms
    ARPKD, FCYT, TIGM1
  • Links
    NCBI Gene ID: 5314
    neXtProt AC: NX_P08F94

  • Chr Location
    6p12.2; chr6:51614685-52087625 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Pkhd1 mouse models; 1 with human PKHD1 associations

Human Disease Mouse Models
       Polycystic Kidney Disease, Autosomal Recessive; ARPKD   OMIM: 263200 View 6 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    58 phenotypes from 9 alleles in 13 genetic backgrounds
    10 phenotypes from multigenic genotypes
    1 images
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
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
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026248 VEGA Gene Model | MGI Sequence Detail 560286 C57BL/6J ±  kb
transcript OTTMUST00000064911 VEGA | MGI Sequence Detail 12935 Not Applicable  
polypeptide OTTMUSP00000032279 VEGA | MGI Sequence Detail 4059 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    4390 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 14
    Genomic 1
    cDNA 12
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2138159, MGI:2138168
References
more
  • Summaries
    All 50
    Developmental Gene Expression 12
    Diseases 8
    Gene Ontology 3
    Phenotypes 17
  • 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:220324 De Vas MG, et al., Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors. Development. 2015 Mar 1;142(5):871-82

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
02/02/2016
MGI 6.02
The Jackson Laboratory