Human Gene PKHD1 (ENST00000340994.4) from GENCODE V44
Description: Homo sapiens PKHD1 ciliary IPT domain containing fibrocystin/polyductin (PKHD1), transcript variant 2, mRNA. (from RefSeq NM_170724) RefSeq Summary (NM_170724): The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000340994.4 Gencode Gene: ENSG00000170927.15 Transcript (Including UTRs) Position: hg38 chr6:51,720,849-52,087,610 Size: 366,762 Total Exon Count: 61 Strand: - Coding Region Position: hg38 chr6:51,721,986-52,084,933 Size: 362,948 Coding Exon Count: 60
ID:PKHD1_HUMAN DESCRIPTION: RecName: Full=Fibrocystin; AltName: Full=Polycystic kidney and hepatic disease 1 protein; AltName: Full=Polyductin; AltName: Full=Tigmin; Flags: Precursor; FUNCTION: May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Probable). Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, centrosome. TISSUE SPECIFICITY: Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain. DISEASE: Defects in PKHD1 are the cause of polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]. ARPKD is a severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. SIMILARITY: Contains 2 G8 domains. SIMILARITY: Contains 12 IPT/TIG domains. SIMILARITY: Contains 9 PbH1 repeats. WEB RESOURCE: Name=Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1); URL="http://www.humgen.rwth-aachen.de/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PKHD1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P08F94
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0038023 signaling receptor activity
Biological Process: GO:0001822 kidney development GO:0006874 cellular calcium ion homeostasis GO:0007165 signal transduction GO:0008284 positive regulation of cell proliferation GO:0010824 regulation of centrosome duplication GO:0032006 regulation of TOR signaling GO:0032088 negative regulation of NF-kappaB transcription factor activity GO:0042592 homeostatic process GO:0043066 negative regulation of apoptotic process GO:0051271 negative regulation of cellular component movement GO:0051898 negative regulation of protein kinase B signaling GO:0060271 cilium assembly GO:0070372 regulation of ERK1 and ERK2 cascade GO:0098609 cell-cell adhesion
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