PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) - Rat Genome Database
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Gene: PKHD1 (PKHD1 ciliary IPT domain containing fibrocystin/polyductin) Homo sapiens
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Symbol: PKHD1
Name: PKHD1 ciliary IPT domain containing fibrocystin/polyductin
RGD ID: 1318266
Description: Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; regulation of centrosome duplication; and regulation of intracellular signal transduction. Localizes to apical plasma membrane; microtubule cytoskeleton; and perinuclear region of cytoplasm. Implicated in autosomal recessive polycystic kidney disease and polycystic kidney disease 4.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARPKD; DKFZp686C01112; FCYT; fibrocystin; fibrocystin/polyductin complex; FLJ46150; FPC; PKD4; PKHD1, fibrocystin/polyductin; polycystic kidney and hepatic disease 1 (autosomal recessive); polycystic kidney and hepatic disease 1 protein; polyductin; TIG multiple domains 1; TIGM1; tigmin
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl651,615,299 - 52,087,613 (-)EnsemblGRCh38hg38GRCh38
GRCh38651,614,685 - 52,087,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37651,480,145 - 51,952,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36651,588,104 - 52,060,382 (-)NCBINCBI36hg18NCBI36
Celera653,139,903 - 53,613,559 (-)NCBI
Cytogenetic Map6p12.3-p12.2NCBI
HuRef651,314,936 - 51,783,413 (-)NCBIHuRef
CHM1_1651,482,653 - 51,954,627 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of limbs  (IAGP)
Abnormality of the intrahepatic bile duct  (IAGP)
Absence of renal corticomedullary differentiation  (IAGP)
Acute kidney injury  (IAGP)
Ascites  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biliary hyperplasia  (IAGP)
Cholangiocarcinoma  (IAGP)
Cholangitis  (IAGP)
Cognitive impairment  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Dehydration  (IAGP)
Depressed nasal ridge  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
Enlarged kidney  (IAGP)
Esophageal varix  (IAGP)
Fat malabsorption  (IAGP)
Feeding difficulties  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Growth delay  (IAGP)
Hepatic cysts  (IAGP)
Hepatoblastoma  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hypersplenism  (IAGP)
Hypertension  (IAGP)
Hyponatremia  (IAGP)
Hypoventilation  (IAGP)
Increased serum bile acid concentration  (IAGP)
Jaundice  (IAGP)
Low levels of vitamin A  (IAGP)
Low levels of vitamin D  (IAGP)
Low levels of vitamin E  (IAGP)
Low levels of vitamin K  (IAGP)
Low-set ears  (IAGP)
Micrognathia  (IAGP)
Neonatal death  (IAGP)
Oligohydramnios  (IAGP)
Oliguria  (IAGP)
Pancreatic cysts  (IAGP)
Periportal fibrosis  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polydipsia  (IAGP)
Portal hypertension  (IAGP)
Potter facies  (IAGP)
Protein-losing enteropathy  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent urinary tract infections  (IAGP)
Reduced renal corticomedullary differentiation  (IAGP)
Renal cyst  (IAGP)
Renal insufficiency  (IAGP)
Respiratory failure  (IAGP)
Splenomegaly  (IAGP)
Spontaneous pneumothorax  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Thrombocytopenia  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
References

Additional References at PubMed
PMID:7920664   PMID:9503014   PMID:11898128   PMID:12079288   PMID:12191969   PMID:12506140   PMID:12846734   PMID:14702039   PMID:14978161   PMID:15108277   PMID:15108281   PMID:15458427  
PMID:15647252   PMID:16199545   PMID:16243292   PMID:16677362   PMID:16897190   PMID:16956880   PMID:17160262   PMID:17283055   PMID:17470460   PMID:17593545   PMID:17669261   PMID:17903305  
PMID:18235088   PMID:18782757   PMID:19021639   PMID:19056867   PMID:19158352   PMID:19292732   PMID:19524688   PMID:19557197   PMID:19914852   PMID:19923420   PMID:19940839   PMID:19943112  
PMID:20048263   PMID:20301501   PMID:20301743   PMID:20379614   PMID:20413436   PMID:20554582   PMID:20575693   PMID:20709014   PMID:21274727   PMID:21300060   PMID:21873635   PMID:21945273  
PMID:22411058   PMID:22882926   PMID:23633212   PMID:24002674   PMID:24639526   PMID:24710345   PMID:24851866   PMID:24984783   PMID:25104275   PMID:25124979   PMID:25153916   PMID:25193386  
PMID:25367197   PMID:25771912   PMID:26385851   PMID:26695994   PMID:26721323   PMID:27225849   PMID:27577217   PMID:27595491   PMID:27752906   PMID:28578020   PMID:28798345   PMID:29676528  
PMID:29703621   PMID:30021884   PMID:30414501   PMID:30566001   PMID:30595564   PMID:30617278   PMID:30677029   PMID:30745168   PMID:30898581   PMID:31400123   PMID:31638247   PMID:31813136  
PMID:31900314   PMID:32001768  


Genomics

Comparative Map Data
PKHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl651,615,299 - 52,087,613 (-)EnsemblGRCh38hg38GRCh38
GRCh38651,614,685 - 52,087,625 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37651,480,145 - 51,952,423 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36651,588,104 - 52,060,382 (-)NCBINCBI36hg18NCBI36
Celera653,139,903 - 53,613,559 (-)NCBI
Cytogenetic Map6p12.3-p12.2NCBI
HuRef651,314,936 - 51,783,413 (-)NCBIHuRef
CHM1_1651,482,653 - 51,954,627 (-)NCBICHM1_1
Pkhd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39120,128,003 - 20,688,306 (-)NCBI
GRCm38120,057,779 - 20,618,082 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl120,057,779 - 20,618,064 (-)EnsemblGRCm38mm10GRCm38
MGSCv37120,047,860 - 20,608,138 (-)NCBIGRCm37mm9NCBIm37
MGSCv36120,042,930 - 20,603,208 (-)NCBImm8
Celera119,948,411 - 20,498,116 (-)NCBICelera
Cytogenetic Map1A4NCBI
Pkhd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0926,164,969 - 26,736,704 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
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 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1918,831,224 - 19,254,940 (-)NCBI
Celera920,127,204 - 20,618,569 (-)NCBICelera
Cytogenetic Map9q13NCBI
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
JBrowseNCBI