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Gene Ontology Classifications
Symbol
Name
ID
Pkhd1
polycystic kidney and hepatic disease 1
MGI:2155808

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of epithelial cell apoptotic process; and regulation of establishment of planar polarity. Acts upstream of with a positive effect on branching morphogenesis of an epithelial tube and cell-cell junction organization. Acts upstream of or within cilium assembly and kidney development. Located in several cellular components, including 9+0 non-motile cilium; apical plasma membrane; and extracellular exosome. Is expressed in several structures, including adrenal cortex; gut; mesonephric tubule; metanephros; and ureteric bud. Used to study Caroli syndrome; autosomal recessive polycystic kidney disease; and polycystic kidney disease 4. Human ortholog(s) of this gene implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4. Orthologous to human PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin).



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
HMP
Inferred from high throughput mutant phenotype
HGI
Inferred from high throughput genetic interaction
HDA
Inferred from high throughput direct assay
HEP
Inferred from high throughput expression pattern
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory