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 cattle; 1 dog; 1 chicken

Gene Tree: Pkhd1

Human homologs

Human Homolog		PKHD1, polycystic kidney and hepatic disease 1 (autosomal recessive)
NCBI Gene ID		5314
neXtProt AC		NX_P08F94
Human Synonyms		ARPKD, FCYT, TIGM1
Human Chr (Location)		6p12.2; chr6:51480145-51952423 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human PKHD1

Alleles and phenotypes

All alleles(9) : Targeted(9)
 

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 Using Mouse Pkhd1 (1)    Alleles Annotated to Human Diseases(4)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	cilium assembly, kidney development, ...
Component	apical plasma membrane, centrosome, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (99)    Tissues (24)    Images (37)
Theiler Stages: 15, 17, 19, 23, 26, 28

Assay Type	Results
Immunohistochemistry	16
RNA in situ	77
Western blot	4
RT-PCR	2

cDNA source data(11)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1587527, TC1595432
DoTS	DT.487437, DT.91424942, DT.94217031
NIA Mouse Gene Index	U021158
Consensus CDS Project	CCDS14841.1
International Mouse Knockout Project Status	Pkhd1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000026248	VEGA Gene Model | MGI Sequence Detail	560286	C57BL/6J
transcript	OTTMUST00000064911	VEGA | MGI Sequence Detail	12935	Not Applicable
polypeptide	OTTMUSP00000032279	VEGA | MGI Sequence Detail	4059	Not Applicable

All sequences(36) RefSeq(2) UniProt(5)

Polymorphisms

SNPs(2782 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:188763 Fedeles SV, et al., A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nat Genet. 2011 Jul;43(7):639-47
All references(49)

Other accession IDs

MGI:2138159, MGI:2138168