Pkhd1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) - Rat Genome Database

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Gene: Pkhd1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) Rattus norvegicus
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Symbol: Pkhd1
Name: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
RGD ID: 1308476
Description: Predicted to be involved in several processes, including establishment of centrosome localization; regulation of epithelial cell proliferation; and regulation of intracellular signal transduction. Predicted to act upstream of with a positive effect on branching morphogenesis of an epithelial tube and cell-cell junction organization. Predicted to act upstream of or within cilium assembly and kidney development. Predicted to be located in several cellular components, including apical plasma membrane; extracellular exosome; and microtubule cytoskeleton. Used to study autosomal recessive polycystic kidney disease. Biomarker of autosomal recessive polycystic kidney disease. 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); INTERACTS WITH bisphenol A; cefaloridine; rotenone.
Type: protein-coding
RefSeq Status: MODEL
Previously known as: AABR07067023.1; fibrocystin; LOC301287; PKHD1, fibrocystin/polyductin; polycystic kidney and hepatic disease 1; polycystic kidney and hepatic disease 1 (autosomal recessive); polycystic kidney and hepatic disease 1 homolog; polycystic kidney and hepatic disease 1 homolog (human)
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Pkhd1pck
Genetic Models: PCK-P2rx7em8Mcwi
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8930,040,466 - 30,533,834 (-)NCBIGRCr8
mRatBN7.2922,547,396 - 23,037,443 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl922,549,513 - 23,037,381 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0926,164,969 - 26,736,704 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl926,636,334 - 26,707,571 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0925,025,958 - 25,065,045 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0925,159,062 - 25,593,163 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4918,833,903 - 19,338,716 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1918,831,224 - 19,254,940 (-)NCBI
Celera920,127,204 - 20,618,569 (-)NCBICelera
Cytogenetic Map9q13NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Object Symbol
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Original Reference(s)
Pkhd1Ratautosomal recessive polycystic kidney disease  IAGP 70439 RGD 
Pkhd1Ratautosomal recessive polycystic kidney disease  ISORGD:131826714700917DNA:deletion:exon:RGD 
Pkhd1Ratautosomal recessive polycystic kidney disease severityISORGD:131826611062506DNA:missense mutations:cds:RGD 
Pkhd1Ratautosomal recessive polycystic kidney disease  IEP 1642441protein:decreased expression:kidneyRGD 
Pkhd1Ratautosomal recessive polycystic kidney disease susceptibilityISORGD:131826670439DNA:missense mutations, nonsense mutations: :multipleRGD 
Pkhd1Ratautosomal recessive polycystic kidney disease susceptibilityIAGP 70439DNA:splice site mutation:intron:IVS35-2A>TRGD 
Pkhd1Ratcholangitis  ISORGD:131826714700923 RGD 
Pkhd1Ratcholedochal cyst  ISORGD:131826714700991DNA:deletion:exon:RGD 
Pkhd1RatCongenital Hepatic Fibrosis  ISORGD:131826614700992DNA:mutations:cds:c.7994T>C, p.(Leu2665Pro),c.8518C>T, p.(Arg2840Cys)(human)RGD 
Pkhd1RatCongenital Hepatic Fibrosis  ISORGD:131826714700919 RGD 
Pkhd1Ratliver cirrhosis  ISORGD:131826714700917DNA:deletion:exon:RGD 
Pkhd1RatMedullary Sponge Kidney  ISORGD:131826714700919 RGD 
Pkhd1RatPancreatic Cyst  ISORGD:131826714700921 RGD 
Pkhd1RatPancreatic Cyst  ISORGD:131826714700917DNA:deletion:exon:RGD 
Pkhd1Ratpolycystic kidney disease  ISORGD:13182671642440mRNA:decreased expression:kidneyRGD 
Pkhd1Ratpolycystic liver disease  ISORGD:131826714700921 RGD 
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Species
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Qualifier
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With
Reference
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Original Reference(s)
Pkhd1Ratautosomal dominant polycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease | ClinVar Annotator: match by more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21407107|PMID:21493627|PMID:21945273|PMID:22034641|PMID:22415584|PMID:23389334|PMID:23582048|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25326637|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25771912|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28252636|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:29068549|PMID:29095814|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31308072|PMID:31328266|PMID:31395617|PMID:31589614|PMID:31730820|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32203225|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33742171|PMID:33774617|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34405919|PMID:34426522|PMID:34487536|PMID:34536170|PMID:35372954|PMID:35373060|PMID:35497799|PMID:35715958|PMID:35812281|PMID:36307859|PMID:36703223|PMID:36938085|PMID:38057357|PMID:38374194|PMID:39071699|PMID:9536098
Pkhd1Ratautosomal recessive polycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Autosomal recessive polycystic kidney diseaseClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25741895|PMID:25741913|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32359821|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34426522|PMID:9536098
Pkhd1Ratautosomal recessive polycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease | ClinVar Annotator: match by more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:16876319|PMID:16897190|PMID:17576681|PMID:18414213|PMID:18503009|PMID:18769842|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:20575693|PMID:21228398|PMID:21274727|PMID:21407107|PMID:21493627|PMID:21790888|PMID:21945273|PMID:22034641|PMID:22415584|PMID:22882926|PMID:22995991|PMID:23041322|PMID:23265383|PMID:23389334|PMID:23582048|PMID:23757202|PMID:24009235|PMID:24033266|PMID:24121792|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25326637|PMID:25525159|PMID:25589618|PMID:25640679|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741880|PMID:25771912|PMID:25966130|PMID:26139440|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26633542|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27577217|PMID:27595491|PMID:27752906|PMID:27894351|PMID:28166811|PMID:28170084|PMID:28252636|PMID:28364132|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28578020|PMID:28851938|PMID:28862642|PMID:28933340|PMID:29068549|PMID:29095814|PMID:29520754|PMID:29643536|PMID:29801666|PMID:29947050|PMID:29956005|PMID:30017326|PMID:30260789|PMID:30275481|PMID:30343465|PMID:30366773|PMID:30507656|PMID:30566001|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30655312|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31308072|PMID:31328266|PMID:31395617|PMID:31395954|PMID:31589614|PMID:31624253|PMID:31730820|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31938409|PMID:31980526|PMID:32203225|PMID:32256442|PMID:32304219|PMID:32359821|PMID:32384486|PMID:3239877|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32576985|PMID:32799815|PMID:32901917|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33742171|PMID:33774617|PMID:33845788|PMID:33940108|PMID:33964006|PMID:34008892|PMID:34032358|PMID:34096032|PMID:34405919|PMID:34426522|PMID:34487536|PMID:34536170|PMID:34573383|PMID:34977057|PMID:35314707|PMID:35368817|PMID:35372954|PMID:35373060|PMID:35497799|PMID:35627109|PMID:35715958|PMID:35778421|PMID:35783601|PMID:35812281|PMID:36065636|PMID:36307859|PMID:36691356|PMID:36703223|PMID:36938085|PMID:37372416|PMID:37535131|PMID:38057357|PMID:38125876|PMID:38374194|PMID:39071699|PMID:9536098
Pkhd1RatCaroli disease  ISORGD:13182668554872ClinVar Annotator: match by term: Caroli diseaseClinVarPMID:1189128|PMID:11898128|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:21228398|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492530|PMID:28492532|PMID:29068549|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:35715958
Pkhd1Ratcolon cancer  ISORGD:13182668554872ClinVar Annotator: match by term: Malignant tumor of colonClinVarPMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212
Pkhd1Ratcystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Familial cystic renal disease | ClinVar Annotator: match by term: more ...ClinVarPMID:11898128|PMID:19940839|PMID:25741868|PMID:27225849|PMID:28492532
Pkhd1Ratfamilial Mediterranean fever  ISORGD:13182668554872ClinVar Annotator: match by term: Periodic diseaseClinVarPMID:15805161|PMID:16876319|PMID:21228398|PMID:25326637|PMID:26673778|PMID:27225849|PMID:28492532|PMID:28862642
Pkhd1Ratgenetic disease  ISORGD:13182668554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:20413436|PMID:21274727|PMID:23041322|PMID:23265383|PMID:25124979|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:29956005|PMID:30773290|PMID:31395617|PMID:31395954|PMID:32304219|PMID:32574212|PMID:32799815|PMID:33532864|PMID:33774617
Pkhd1Ratgenetic disease  ISORGD:13182668554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:11919560|PMID:15698423|PMID:15805161|PMID:19914852|PMID:20413436|PMID:23041322|PMID:25741868|PMID:26695994|PMID:28492532|PMID:29956005|PMID:31395954
Pkhd1RatHabitual Abortions  ISORGD:13182668554872ClinVar Annotator: match by term: Pregnancy loss, recurrent, susceptibility to, 3ClinVar 
Pkhd1Rathomocystinuria  ISORGD:13182668554872ClinVar Annotator: match by term: CBS deficiencyClinVarPMID:25741868
Pkhd1RatIsolated Caroli Disease  ISORGD:13182668554872ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary treeClinVarPMID:1189128|PMID:11898128|PMID:12874454|PMID:15698423|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32359821|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:35715958
Pkhd1Ratoligohydramnios  ISORGD:13182668554872ClinVar Annotator: match by term: Oligohydramnios | ClinVar Annotator: match by term: anhydramniosClinVarPMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:19914852|PMID:20413436|PMID:21274727|PMID:25124979|PMID:25741868|PMID:26695994|PMID:27225849|PMID:28375157|PMID:28492532|PMID:30773290|PMID:32574212|PMID:32799815|PMID:33532864|PMID:35005812
Pkhd1Ratpolycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25326637|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31328266|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892|PMID:34032358
Pkhd1Ratpolycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892
Pkhd1Ratpolycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Polycystic kidney diseaseClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892
Pkhd1Ratpolycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25326637|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25741905|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29068549|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31328266|PMID:31395954|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33123899|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892|PMID:34032358
Pkhd1Ratpolycystic kidney disease  ISORGD:13182668554872ClinVar Annotator: match by term: Polycystic kidney disease | ClinVar Annotator: match by term: Polycystic more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16523049|PMID:16632497|PMID:16876319|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:21228398|PMID:21274727|PMID:21790888|PMID:22882926|PMID:23041322|PMID:23582048|PMID:23757202|PMID:24033266|PMID:24162162|PMID:25124979|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28375157|PMID:28492530|PMID:28492532|PMID:28862642|PMID:29801666|PMID:29956005|PMID:30343465|PMID:30773290|PMID:31130284|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:33112055|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33940108|PMID:34008892
Pkhd1Ratpolycystic kidney disease 3  ISORGD:13182668554872ClinVar Annotator: match by term: PKD3 | ClinVar Annotator: match by term: Polycystic kidney disease more ...ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:16632497|PMID:17576681|PMID:18503009|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:22415584|PMID:22882926|PMID:23041322|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24984783|PMID:25034658|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25701400|PMID:25741868|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28252636|PMID:28375157|PMID:28492532|PMID:28578020|PMID:29095814|PMID:29801666|PMID:29956005|PMID:30275481|PMID:30343465|PMID:30507656|PMID:30586318|PMID:30650191|PMID:30773290|PMID:30787879|PMID:31130284|PMID:31395954|PMID:31589614|PMID:31738409|PMID:31813136|PMID:31844813|PMID:31980526|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33112055|PMID:33123899|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33845788|PMID:33940108|PMID:34008892|PMID:9536098
Pkhd1Ratpolycystic kidney disease 3  ISORGD:13182668554872ClinVar Annotator: match by term: GANAB-related condition | ClinVar Annotator: match by term: PKD3ClinVarPMID:1189128|PMID:11898128|PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:12925574|PMID:14741187|PMID:14971004|PMID:15108277|PMID:15108281|PMID:15696446|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16133180|PMID:16199545|PMID:16199547|PMID:16523049|PMID:17576681|PMID:18414213|PMID:18503009|PMID:19021639|PMID:19176689|PMID:19914852|PMID:19940839|PMID:19940939|PMID:20301501|PMID:20413436|PMID:20460933|PMID:21228398|PMID:21274727|PMID:21407107|PMID:21493627|PMID:21945273|PMID:22034641|PMID:22415584|PMID:23389334|PMID:23582048|PMID:24033266|PMID:24162162|PMID:24710345|PMID:24984783|PMID:25034658|PMID:25114813|PMID:25124979|PMID:25153916|PMID:25193386|PMID:25525159|PMID:25646624|PMID:25701400|PMID:25741868|PMID:25771912|PMID:26385851|PMID:26489027|PMID:26489029|PMID:26673778|PMID:26695994|PMID:26721323|PMID:27151922|PMID:27225849|PMID:27491411|PMID:27752906|PMID:27894351|PMID:28170084|PMID:28252636|PMID:28364132|PMID:28375157|PMID:28492532|PMID:28578020|PMID:28851938|PMID:29068549|PMID:29095814|PMID:29643536|PMID:29801666|PMID:29956005|PMID:30260789|PMID:30275481|PMID:30507656|PMID:30586318|PMID:30595564|PMID:30650191|PMID:30773290|PMID:30787879|PMID:31010483|PMID:31130284|PMID:31308072|PMID:31328266|PMID:31395617|PMID:31589614|PMID:31730820|PMID:31738409|PMID:31844813|PMID:31980526|PMID:32203225|PMID:32384486|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815|PMID:32939031|PMID:33059616|PMID:33059727|PMID:33112055|PMID:33123899|PMID:33226606|PMID:33282801|PMID:33426401|PMID:33437033|PMID:33532864|PMID:33569422|PMID:33716212|PMID:33742171|PMID:33774617|PMID:33845788|PMID:33940108|PMID:34008892|PMID:34405919|PMID:34426522|PMID:34487536|PMID:34536170|PMID:35372954|PMID:35373060|PMID:35497799|PMID:35812281|PMID:36307859|PMID:36703223|PMID:36938085|PMID:38057357|PMID:38374194|PMID:39071699|PMID:9536098
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Object Symbol
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Original Reference(s)
Pkhd1Ratautosomal recessive polycystic kidney disease  ISORGD:131826611554173CTD Direct Evidence: marker/mechanismCTDPMID:16133180|PMID:18988797|PMID:19524688|PMID:21685914
Pkhd1Ratcholedochal cyst  ISORGD:131826611554173CTD Direct Evidence: marker/mechanismCTDPMID:18988797
Object Symbol
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Qualifier
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Original Reference(s)
Pkhd1Ratautosomal recessive polycystic kidney disease  ISSRGD:131826713592920OMIM:263200MouseDO 
Pkhd1RatCaroli syndrome  ISSRGD:131826713592920 MouseDO 
Pkhd1Ratpolycystic kidney disease 4  ISSRGD:131826713592920OMIM:263200MouseDO 
Object Symbol
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Evidence
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Reference
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Original Reference(s)
Pkhd1Ratpolycystic kidney disease 4  ISORGD:13182667240710 OMIM 

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Original Reference(s)
Pkhd1Rat17beta-estradiol increases expressionISORGD:13182676480464Estradiol results in increased expression of PKHD1 mRNACTDPMID:39298647
Pkhd1Rat2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:13182676480464Tetrachlorodibenzodioxin affects the expression of PKHD1 mRNACTDPMID:21570461
Pkhd1Rat2,4-dibromophenyl 2,4,5-tribromophenyl ether affects expressionISORGD:131826764804642,2',4,4',5-brominated diphenyl ether affects the expression of PKHD1 mRNACTDPMID:38648751
Pkhd1Rat4,4'-sulfonyldiphenol multiple interactionsISORGD:13182666480464[bisphenol S co-treated with Fulvestrant] results in increased methylation of PKHD1 geneCTDPMID:31601247
Pkhd1Rat4-hydroxyphenyl retinamide increases expressionISORGD:13182676480464Fenretinide results in increased expression of PKHD1 mRNACTDPMID:28973697
Pkhd1Rataflatoxin B1 decreases expressionISORGD:13182676480464Aflatoxin B1 results in decreased expression of PKHD1 mRNACTDPMID:19770486
Pkhd1Rataflatoxin B1 decreases expressionISORGD:13182666480464Aflatoxin B1 results in decreased expression of PKHD1 mRNACTDPMID:32234424
Pkhd1Ratbenzo[a]pyrene increases mutagenesisISORGD:13182666480464Benzo(a)pyrene results in increased mutagenesis of PKHD1 geneCTDPMID:25435355
Pkhd1Ratbenzo[a]pyrene decreases expressionISORGD:13182666480464Benzo(a)pyrene results in decreased expression of PKHD1 mRNACTDPMID:32234424
Pkhd1Ratbenzo[a]pyrene decreases methylationISORGD:13182666480464Benzo(a)pyrene results in decreased methylation of PKHD1 5' UTRCTDPMID:27901495
Pkhd1Ratbenzo[a]pyrene increases methylationISORGD:13182666480464Benzo(a)pyrene results in increased methylation of PKHD1 promoterCTDPMID:27901495
Pkhd1Ratbenzo[a]pyrene decreases expressionISORGD:13182676480464Benzo(a)pyrene results in decreased expression of PKHD1 mRNACTDPMID:19770486|PMID:21715664
Pkhd1Ratbisphenol A increases expressionISORGD:13182676480464bisphenol A results in increased expression of PKHD1 mRNACTDPMID:21932408
Pkhd1Ratbisphenol A increases methylationISORGD:13182666480464bisphenol A results in increased methylation of PKHD1 geneCTDPMID:31601247
Pkhd1Ratbisphenol A affects expressionEXP 6480464bisphenol A affects the expression of PKHD1 mRNACTDPMID:32145629
Pkhd1Ratbisphenol A decreases expressionEXP 6480464bisphenol A results in decreased expression of PKHD1 mRNACTDPMID:25181051
Pkhd1Ratcadmium atom multiple interactionsISORGD:13182666480464[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PKHD1 more ...CTDPMID:35301059
Pkhd1Ratcadmium dichloride multiple interactionsISORGD:13182666480464[Cadmium Chloride results in increased abundance of Cadmium] which results in decreased expression of PKHD1 more ...CTDPMID:35301059
Pkhd1Ratcarbon nanotube decreases expressionISORGD:13182676480464Nanotubes, Carbon analog results in decreased expression of PKHD1 mRNACTDPMID:25620056
Pkhd1Ratcefaloridine decreases expressionEXP 6480464Cephaloridine results in decreased expression of PKHD1 mRNACTDPMID:18500788

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Biological Process
1 to 20 of 39 rows

  
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Original Reference(s)
Pkhd1Ratbiological_process  ND 159840709/2007: no relevant rat dataRGD 
Pkhd1Ratbranching morphogenesis of an epithelial tube acts_upstream_of_positive_effectISORGD:13182671624291 PMID:20875407RGDPMID:20875407
Pkhd1Ratbranching morphogenesis of an epithelial tube acts_upstream_of_positive_effectIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratcell-cell junction organization acts_upstream_of_positive_effectIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratcell-cell junction organization acts_upstream_of_positive_effectISORGD:13182671624291 PMID:20875407RGDPMID:20875407
Pkhd1Ratcilium assembly acts_upstream_of_or_withinISORGD:13182671624291MGI:3826780 PMID:18235088RGDPMID:18235088
Pkhd1Ratcilium assembly acts_upstream_of_or_withinIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratepithelial cell morphogenesis involved_inISORGD:123097221624291 PMID:32698519RGDPMID:32698519
Pkhd1Ratestablishment of centrosome localization involved_inISORGD:123097221624291 PMID:32698519RGDPMID:32698519
Pkhd1Ratestablishment of mitotic spindle orientation involved_inISORGD:13182671624291 PMID:19959710RGDPMID:19959710
Pkhd1Ratestablishment of mitotic spindle orientation involved_inIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratintracellular calcium ion homeostasis involved_inISORGD:13182661624291 PMID:17669261RGDPMID:17669261
Pkhd1Ratintracellular calcium ion homeostasis involved_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratkidney development acts_upstream_of_or_withinISORGD:13182671624291 PMID:15067314RGDPMID:15067314
Pkhd1Ratkidney development acts_upstream_of_or_withinIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratnegative regulation of apoptotic process involved_inISORGD:13182661624291 PMID:19943112, PMID:21300060RGDPMID:19943112|PMID:21300060
Pkhd1Ratnegative regulation of apoptotic process involved_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratnegative regulation of epithelial cell apoptotic process involved_inIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratnegative regulation of epithelial cell apoptotic process involved_inISORGD:13182671624291 PMID:20875407RGDPMID:20875407
Pkhd1Ratnegative regulation of NF-kappaB transcription factor activity involved_inISORGD:13182661624291 PMID:21300060RGDPMID:21300060
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Cellular Component
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Original Reference(s)
Pkhd1Rat9+0 non-motile cilium located_inISORGD:13182671624291 PMID:24586199RGDPMID:24586199
Pkhd1Rat9+0 non-motile cilium located_inIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratapical plasma membrane located_inISORGD:13182661624291 PMID:16243292RGDPMID:16243292
Pkhd1Ratapical plasma membrane located_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratapical plasma membrane located_inIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratapical plasma membrane located_inISORGD:13182671624291 PMID:18202188RGDPMID:18202188
Pkhd1Ratcell projection located_inIEAUniProtKB-KW:KW-09661600115GO_REF:0000043UniProtGO_REF:0000043
Pkhd1Ratcell projection located_inIEAUniProtKB-SubCell:SL-02801600115GO_REF:0000044UniProtGO_REF:0000044
Pkhd1Ratcentrosome located_inISORGD:13182661624291 PMID:20554582RGDPMID:20554582
Pkhd1Ratcentrosome located_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratciliary basal body located_inISORGD:13182661624291 PMID:14978161, PMID:14983006RGDPMID:14978161|PMID:14983006
Pkhd1Ratciliary basal body located_inISORGD:1318266|UniProtKB:P08F94-1|UniProtKB:P08F94-21624291 RGDGO_REF:0000052
Pkhd1Ratciliary basal body located_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratcilium located_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratcilium located_inIEAUniProtKB:E9PZ36|ensembl:ENSMUSP000000857941600115GO_REF:0000107EnsemblGO_REF:0000107
Pkhd1Ratcilium located_inISORGD:1318266|UniProtKB:P08F94-1|UniProtKB:P08F94-21624291 RGDGO_REF:0000052
Pkhd1Ratcilium located_inISORGD:13182661624291 PMID:15458427, PMID:16956880, PMID:17470460, PMID:20048263RGDPMID:15458427|PMID:16956880|PMID:17470460|PMID:20048263
Pkhd1Ratcilium located_inISORGD:13182671624291 PMID:16956880, PMID:17470460, PMID:18202188, PMID:22021705, PMID:28154160RGDPMID:16956880|PMID:17470460|PMID:18202188|PMID:22021705|PMID:28154160
Pkhd1Ratcytoplasm located_inISORGD:13182661624291 PMID:20709014RGDPMID:20709014
Pkhd1Ratcytoplasm located_inIEAUniProtKB:P08F94|ensembl:ENSP000003601581600115GO_REF:0000107EnsemblGO_REF:0000107
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Molecular Function

  
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Source
Original Reference(s)
Pkhd1Ratprotein binding enablesISORGD:13182671624291PR:O35245|PR:P61750|UniProtKB:O75386|UniProtKB:P49069 PMID:16243292, PMID:18235088, PMID:24586199, PMID:28154160RGDPMID:16243292|PMID:18235088|PMID:24586199|PMID:28154160
Pkhd1Ratprotein binding enablesISORGD:13182661624291UniProtKB:P07602|UniProtKB:P49069|UniProtKB:P55258|UniProtKB:Q13563 PMID:16243292, PMID:18235088, PMID:20048263, PMID:20709014RGDPMID:16243292|PMID:18235088|PMID:20048263|PMID:20709014


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Reference Title
Reference Citation
1. Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. Furu L, etal., J Am Soc Nephrol. 2003 Aug;14(8):2004-14.
2. Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1. Gallagher AR, etal., Am J Pathol. 2008 Feb;172(2):417-29. doi: 10.2353/ajpath.2008.070381. Epub 2008 Jan 17.
3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
4. Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Goilav B, etal., Pediatr Transplant. 2006 May;10(3):294-8.
5. Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice. Hiesberger T, etal., J Clin Invest. 2004 Mar;113(6):814-25.
6. A Novel Pkhd1 Mutation Interacts with the Nonobese Diabetic Genetic Background To Cause Autoimmune Cholangitis. Huang W, etal., J Immunol. 2018 Jan 1;200(1):147-162. doi: 10.4049/jimmunol.1701087. Epub 2017 Nov 20.
7. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
8. A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Moser M, etal., Hepatology. 2005 May;41(5):1113-21. doi: 10.1002/hep.20655.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. GOA pipeline RGD automated data pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Comprehensive gene review and curation RGD comprehensive gene curation
14. Heterozygous Pkhd1C642* mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney. Shan D, etal., Am J Physiol Renal Physiol. 2019 Mar 1;316(3):F463-F472. doi: 10.1152/ajprenal.00181.2018. Epub 2019 Jan 2.
15. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Ward CJ, etal., Hum Mol Genet. 2003 Oct 15;12(20):2703-10. Epub 2003 Aug 12.
16. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Ward CJ, etal., Nat Genet 2002 Mar;30(3):259-69.
17. A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Woollard JR, etal., Kidney Int. 2007 Aug;72(3):328-36. doi: 10.1038/sj.ki.5002294. Epub 2007 May 23.
18. Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family. Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
19. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Zhang MZ, etal., Proc Natl Acad Sci U S A. 2004 Feb 24;101(8):2311-6.
1 to 19 of 19 rows
PMID:14978161   PMID:15458427   PMID:15509540   PMID:16243292   PMID:16783394   PMID:17669261   PMID:18235088   PMID:19056867   PMID:19158352   PMID:19524688   PMID:19943112   PMID:20554582  
PMID:20709014   PMID:21300060   PMID:25367197   PMID:26136112   PMID:28154160  



Pkhd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8930,040,466 - 30,533,834 (-)NCBIGRCr8
mRatBN7.2922,547,396 - 23,037,443 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl922,549,513 - 23,037,381 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0926,164,969 - 26,736,704 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl926,636,334 - 26,707,571 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0925,025,958 - 25,065,045 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0925,159,062 - 25,593,163 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4918,833,903 - 19,338,716 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1918,831,224 - 19,254,940 (-)NCBI
Celera920,127,204 - 20,618,569 (-)NCBICelera
Cytogenetic Map9q13NCBI
PKHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38651,615,299 - 52,087,615 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl651,615,299 - 52,087,613 (-)EnsemblGRCh38hg38GRCh38
GRCh37651,480,097 - 51,952,411 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36651,588,104 - 52,060,382 (-)NCBINCBI36Build 36hg18NCBI36
Celera653,139,903 - 53,613,559 (-)NCBICelera
Cytogenetic Map6p12.3-p12.2NCBI
HuRef651,314,936 - 51,783,413 (-)NCBIHuRef
CHM1_1651,482,653 - 51,954,627 (-)NCBICHM1_1
T2T-CHM13v2.0651,458,672 - 51,926,294 (-)NCBIT2T-CHM13v2.0
Pkhd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39120,128,003 - 20,688,306 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl120,128,003 - 20,688,288 (-)EnsemblGRCm39 Ensembl
GRCm38120,057,779 - 20,618,082 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl120,057,779 - 20,618,064 (-)EnsemblGRCm38mm10GRCm38
MGSCv37120,047,860 - 20,608,138 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36120,042,930 - 20,603,208 (-)NCBIMGSCv36mm8
Celera119,948,411 - 20,498,116 (-)NCBICelera
Cytogenetic Map1A4NCBI
cM Map16.27NCBI
Pkhd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554115,990,316 - 6,432,301 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554115,988,100 - 6,434,369 (+)NCBIChiLan1.0ChiLan1.0
PKHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2566,083,287 - 66,550,385 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1661,960,485 - 62,427,247 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0651,166,516 - 51,635,057 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1652,435,455 - 52,903,309 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl652,435,462 - 52,903,309 (-)Ensemblpanpan1.1panPan2
PKHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11219,280,866 - 19,744,669 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1219,286,822 - 19,744,141 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1219,173,042 - 19,651,204 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01219,781,225 - 20,253,821 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1219,783,877 - 20,243,554 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11219,289,289 - 19,759,402 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01219,392,649 - 19,862,367 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01219,530,405 - 20,000,289 (-)NCBIUU_Cfam_GSD_1.0
Pkhd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494654,799,690 - 55,229,420 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364768,730,842 - 9,159,863 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364768,730,766 - 9,160,102 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PKHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl745,450,950 - 45,925,149 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1745,447,354 - 45,925,141 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2752,029,750 - 52,373,563 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PKHD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11720,411,746 - 20,873,601 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604451,528,670 - 51,991,959 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pkhd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248554,019,056 - 4,536,324 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248554,019,088 - 4,539,289 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in Pkhd1
3655 total Variants

Predicted Target Of
Summary Value
Count of predictions:12
Count of miRNA genes:10
Interacting mature miRNAs:11
Transcripts:ENSRNOT00000060760
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 22 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
631211Bw4Body weight QTL45.31retroperitoneal fat pad mass (VT:0010430)retroperitoneal fat pad weight to body weight ratio (CMO:0000635)9510982650109826Rat
2303559Gluco54Glucose level QTL 542blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)9125408446254084Rat
7411609Foco16Food consumption QTL 1625.60.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)9895256053952560Rat
631680Cm11Cardiac mass QTL 113.10.00089heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)92043051965430519Rat
70186Niddm26Non-insulin dependent diabetes mellitus QTL 263.87blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)92207116986369743Rat
9589055Scfw5Subcutaneous fat weight QTL 55.550.001subcutaneous adipose mass (VT:1000472)abdominal subcutaneous fat pad weight (CMO:0002069)9137999212Rat
1641911Alcrsp13Alcohol response QTL 13response to alcohol trait (VT:0010489)brain neurotensin receptor 1 density (CMO:0002068)9143718459Rat
1354650Despr5Despair related QTL 54.010.0017locomotor behavior trait (VT:0001392)amount of time spent in voluntary immobility (CMO:0001043)9125408446254084Rat
1300124Cm4Cardiac mass QTL 43.55heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)9140594091Rat
61425Cia15Collagen induced arthritis QTL 154.6joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)9510982642921101Rat

1 to 10 of 22 rows
D9Got30  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2922,911,264 - 22,911,504 (+)MAPPERmRatBN7.2
Rnor_6.0926,612,243 - 26,612,482NCBIRnor6.0
Rnor_5.0925,469,745 - 25,469,984UniSTSRnor5.0
RGSC_v3.4919,203,614 - 19,203,854RGDRGSC3.4
RGSC_v3.4919,203,615 - 19,203,854UniSTSRGSC3.4
RGSC_v3.1919,200,937 - 19,201,176RGD
Celera920,492,634 - 20,492,873UniSTS
RH 3.4 Map9212.1UniSTS
RH 3.4 Map9212.1RGD
RH 2.0 Map9174.6RGD
Cytogenetic Map9q13UniSTS
AU028005  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2922,862,453 - 22,862,619 (+)MAPPERmRatBN7.2
Rnor_6.0926,563,227 - 26,563,392NCBIRnor6.0
Rnor_5.0925,421,225 - 25,421,390UniSTSRnor5.0
RGSC_v3.4919,154,986 - 19,155,151UniSTSRGSC3.4
Celera920,444,082 - 20,444,247UniSTS
Cytogenetic Map9q13UniSTS
AU049041  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2922,626,409 - 22,626,629 (+)MAPPERmRatBN7.2
Rnor_6.0926,326,879 - 26,327,096NCBIRnor6.0
Rnor_5.0925,182,167 - 25,182,384UniSTSRnor5.0
RGSC_v3.4918,913,421 - 18,913,638UniSTSRGSC3.4
Celera920,208,062 - 20,208,263UniSTS
Cytogenetic Map9q13UniSTS


This gene Pkhd1 is modified in the following models/strains:







Ensembl Acc Id: ENSRNOT00000080948   ⟹   ENSRNOP00000072399
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl922,549,513 - 23,037,381 (-)Ensembl
RefSeq Acc Id: XM_008766937   ⟹   XP_008765159
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8930,040,466 - 30,533,834 (-)NCBI
mRatBN7.2922,547,396 - 23,037,443 (-)NCBI
Rnor_6.0926,164,969 - 26,736,704 (-)NCBI
Sequence:
Protein RefSeqs XP_008765159 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00000072399
  ENSRNOP00000072399.2
RefSeq Acc Id: XP_008765159   ⟸   XM_008766937
- UniProtKB: A0A0G2K2W1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000072399   ⟸   ENSRNOT00000080948
G8   PA14

Name Modeler Protein Id AA Range Protein Structure
AF-A0A0G2K2W1-F1-model_v2 AlphaFold A0A0G2K2W1 1-1613 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen



1 to 33 of 33 rows
Database
Acc Id
Source(s)
BioCyc Gene G2FUF-28044 BioCyc
Ensembl Genes ENSRNOG00000058742 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000080948 ENTREZGENE
  ENSRNOT00000080948.2 UniProtKB/TrEMBL
Gene3D-CATH 2.160.20.10 UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/TrEMBL
InterPro Beta_helix UniProtKB/TrEMBL
  Fibrocystin-related UniProtKB/TrEMBL
  G8_domain UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/TrEMBL
  Ig_E-set UniProtKB/TrEMBL
  IPT_dom UniProtKB/TrEMBL
  PA14/GLEYA UniProtKB/TrEMBL
  PbH1 UniProtKB/TrEMBL
  Pectin_lyas_fold UniProtKB/TrEMBL
  Pectin_lyase_fold/virulence UniProtKB/TrEMBL
NCBI Gene 301287 ENTREZGENE
PANTHER POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 (AUTOSOMAL RECESSIVE)-LIKE 1 UniProtKB/TrEMBL
  PTHR46769:SF1 UniProtKB/TrEMBL
Pfam Beta_helix UniProtKB/TrEMBL
  PF10162 UniProtKB/TrEMBL
  TIG UniProtKB/TrEMBL
PhenoGen Pkhd1 PhenoGen
PROSITE PA14 UniProtKB/TrEMBL
  PS51484 UniProtKB/TrEMBL
RatGTEx ENSRNOG00000058742 RatGTEx
SMART IPT UniProtKB/TrEMBL
  PbH1 UniProtKB/TrEMBL
  SM01225 UniProtKB/TrEMBL
Superfamily-SCOP Anthrax protective antigen UniProtKB/TrEMBL
  SSF51126 UniProtKB/TrEMBL
  SSF81296 UniProtKB/TrEMBL
UniProt A0A0G2K2W1 ENTREZGENE, UniProtKB/TrEMBL
1 to 33 of 33 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-02 Pkhd1  PKHD1 ciliary IPT domain containing fibrocystin/polyductin  AABR07067023.1    Data merged from RGD:15012019 737654 PROVISIONAL
2021-09-02 AABR07067023.1    Pkhd1  PKHD1 ciliary IPT domain containing fibrocystin/polyductin  Symbol and/or name change 19259462 PROVISIONAL
2021-08-09 Pkhd1  PKHD1 ciliary IPT domain containing fibrocystin/polyductin  AABR07067023.1    Symbol and/or name change 19259462 PROVISIONAL
2019-11-08 AABR07067023.1        Symbol and Name status set to provisional 45752 PROVISIONAL
2012-06-26 Pkhd1  polycystic kidney and hepatic disease 1  Pkhd1  polycystic kidney and hepatic disease 1 homolog (human)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2011-04-29 Pkhd1  polycystic kidney and hepatic disease 1 homolog (human)  Pkhd1  polycystic kidney and hepatic disease 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-04-07 Pkhd1  polycystic kidney and hepatic disease 1  Pkhd1_predicted  polycystic kidney and hepatic disease 1 (predicted)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-12 Pkhd1_predicted  polycystic kidney and hepatic disease 1 (predicted)      Symbol and Name status set to approved 70820 APPROVED