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Pkhd1
Gene Detail
Symbol

Name
ID
Pkhd1
polycystic kidney and hepatic disease 1
MGI:2155808
Synonyms
FPC, tigmin
Feature Type
protein coding gene
Genetic Map
Chromosome 1
6.27 cM, cytoband A2-A5
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:20057779-20618064 bp, - strand
From VEGA annotation of GRCm38

  560286 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:16336  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

HCOP human homology predictions: PKHD1
Gene Tree: Pkhd1

Human
homologs
PKHD1, polycystic kidney and hepatic disease 1 (autosomal recessive)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5314
neXtProt AC: NX_P08F94

Human Synonyms: ARPKD, FCYT, TIGM1

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

Disease Associations: (1) Diseases Associated with Human PKHD1

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Targeted(9)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Pkhd1 (1)    Mutations Annotated to Human Diseases (5)    Phenotype Images(1)
Interactions
Pkhd1 interacts with 235 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (19 annotations)
Process cellular calcium ion homeostasis, cilium assembly, ...
Component apical plasma membrane, centrosome, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (12 records)
Data Summary: Results (99)    Tissues (24)    Images (37)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 16
RNA in situ 77
Western blot 4
RT-PCR 2
cDNA source data(11)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(14) Genomic(1) cDNA(12) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000026248 (Evidence)
Ensembl Gene Model ENSMUSG00000043760 (Evidence)
Entrez Gene 241035 (Evidence)
UniGene 249253
DFCI TC1595432, TC1587527
DoTS DT.94217031, DT.91424942, DT.487437
NIA Mouse Gene Index U021158
Consensus CDS Project CCDS14841.1
International Mouse Phenotyping Consortium Status Pkhd1
Sequences
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 sequences
All sequences(44) RefSeq(10) UniProt(5)
Polymorphisms
SNPs within 2kb(4389 from dbSNP Build 137)    SNPs within 2kb including multiple locations(4393)
Protein-related
information
ResourceIDDescription
InterPro IPR002909 Cell surface receptor IPT/TIG
InterPro IPR019316 G8 domain
InterPro IPR014756 Immunoglobulin E-set
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR006626 Parallel beta-helix repeat
InterPro IPR012334 Pectin lyase fold
InterPro IPR011050 Pectin lyase fold/virulence factor
Protein Ontology PR:000012777 fibrocystin
References
(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
All references(54)
Disease annotation references (8)
Other
accession IDs
MGI:2138159, MGI:2138168

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory