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Gene: Pkhd1 (polycystic kidney and hepatic disease 1) Mus musculus
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Symbol: Pkhd1
Name: polycystic kidney and hepatic disease 1
Description: Involved in cilium assembly and kidney development. Localizes to the cilium. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Is expressed in several structures, including adrenal cortex; gut; mesonephric tubule; metanephros; and neural tube. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4-hydroxyphenyl retinamide; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AI118496; AI182499; fibrocystin; FPC; polyductin; TIG multiple domains 1; Tigm1; tigmin
Orthologs:
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38 Ensembl120,057,779 - 20,618,064 (-)Ensembl
GRCm38120,057,779 - 20,618,082 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37120,047,860 - 20,608,138 (-)NCBIGRCm37mm9NCBIm37
MGSCv36120,042,930 - 20,603,208 (-)NCBImm8
Celera119,948,411 - 20,498,116 (-)NCBICelera
Cytogenetic Map1 A3-A4NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
 
More on Pkhd1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318267
Created: 2005-01-12
Species: Mus musculus
Last Modified: 2020-01-14
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.