Human Gene PKHD1 (uc003pah.1) Description and Page Index
Description: Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. RefSeq Summary (NM_138694): 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]. Transcript (Including UTRs) Position: hg19 chr6:51,480,145-51,952,423 Size: 472,279 Total Exon Count: 67 Strand: - Coding Region Position: hg19 chr6:51,483,879-51,949,731 Size: 465,853 Coding Exon Count: 66
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";
Genetic Association Studies of Complex Diseases and Disorders
Amyotrophic Lateral Sclerosis Jennifer C Schymick et al. Lancet neurology 2007, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data., Lancet neurology.
We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.
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.
SCOP Domains: 81296 - E set domains 51126 - Pectin lyase-like 56988 - Anthrax protective antigen
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.