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PKHD1 gene

PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin) is a Protein Coding gene. Diseases associated with PKHD1 include Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease and Polycystic Kidney Disease 4. An important paralog of this gene is SYNE1. UniProtKB/Swiss-Prot Summary for PKHD1 Gene In cultured renal cells, the PKHD1 gene product colocalized with polycystin-2, the gene product of autosomal dominant polycystic disease type 2. PKHD1 gene product polyductin/fibrocystin undergoes a complicated pattern of Notch-like proteolytic processing and is shed from the cilia to the lumen. Mutations in 110 alleles The PKHD1 gene is associated with autosomal recessive polycystic kidney disease (MedGen UID: 39076)

PKHD1 Gene - GeneCards PKHD1 Protein PKHD1 Antibod

ARPKD is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, which is among the largest human genes, with a minimum of 86 exons assembled into a variety of alternatively spliced transcripts Sequence analysis of PKHD1 is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found. Sequence analysis of DZIP1L may be performed if no pathogenic variant of PKHD1 is identified; note, however, that DZIP1L has not yet been definitively proven to be a second locus for ARPKD

Frontiers | Gene Panel Analysis in a Large Cohort of

5314 - Gene ResultPKHD1 PKHD1 ciliary IPT domain

The product of the Pkhd1 gene is required for normal tubulomorphogenesis of mouse inner medullary collecting duct (IMCD) cell lines via extracellular-regulated kinase (ERK) and focal adhesion kinase (FAK) signaling. These findings suggest that FPC and polycystins share, at least in part, a common mechanotransduction pathway Compound heterozygous PKHD1 gene mutations A979G and G5935A, which lead to substitution of an asparagine for an aspartate at amino acid 327 (N327D) and a glycine for an arginine at amino acid 1979 (G1979R) respectively, were identified using targeted exome sequencing and confirmed by Sanger sequencing for the patient Further genomic sequencing of IVS 56 of the PKHD1 gene identified a rare homozygous deep intronic mutation (c.8798-459 C > A), which was inherited from the parents and not detectable in 100 unrelated control subjects

PKHD1 gene codes for fibrocystin. Fibrocystin is found in the epithelial cell of both the renal tubule and the bile ducts. A mutation in PKHD1 (can be autosomal recessive pattern or spontaneous mutations) leading to a deficiency in fibrocystin causes characteristic polycystic dilation of both structures Corresponds to variant dbSNP:rs1037991711 Ensembl ClinVar. PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats Genetic interaction between Pkhd1and Pkd1depended on dosage in the digenic murine models, with no significant enhancement of the monogenic phenotype until a threshold of reduced expression at the second locus was breached The single gene mutation called ''PKHD1'' is fully responsible for the disease presentation of ARPKD. This PKHD1 is located on the human chromosome region 6p21.1-6p12.2. [10] It is also one of the largest genes in the genome as it occupies approximately 450 kb of DNA, and contains at least 86 exons Ward et al. (2002) identified a gene encoding a large, receptor-like protein as the site of mutations causing autosomal recessive polycystic kidney disease (PKD4; 263200), also known as polycystic kidney and hepatic disease-1, and designated the protein fibrocystin

Status. Unreviewed - Annotation score: Annotation score:4 out of 5. The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score cannot be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein [Prenatal diagnosis and genetic counseling in two pedigrees affected with infantile polycystic kidney disease due to PKHD1 gene mutations]. Cao Q, Zhang W, Ge J, Sun D, Feng Q, Li C, Meng Y, Zhu JCao Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Aug 10. PMID 3140012 You can see various sequences for this gene: cDNA (ENST00000371117.7) Protein (PKHD1) Transcript and protein aligned (ENST00000371117.7+PKHD1 This gene provides instructions for making a protein whose exact function is unknown; however, the protein likely transmits chemical signals from outside the cell to the cell nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease Introduction. PKHD1 is the disease gene for autosomal recessive polycystic kidney disease (ARPKD). ARPKD is a pediatric diagnosis with incidence 1:20,000 live births, characterized by diffusely cystic kidneys progressing to renal failure and congenital hepatic fibrosis (CHF) ().CHF is a fully penetrant component of the diagnosis characterized by liver fibrosis and portal hypertension, whose.

ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene located on chromosome 6p12.2 (29, 36, 40). PKHD1 is a large gene consisting of 67 coding exons extending over ∼500 kb of genomic DNA. The orthologous mouse gene, Pkhd1, consists of 68 exons and encodes a protein comprising 4,059 amino acids MalaCards Gene Search: PKHD1 Diseases sorted by gene-association score: polycystic kidney disease 4, with or without hepatic disease* (1707), cystic kidney disease* (432), caroli disease, isolated* (350), oligohydramnios (43), caroli disease (34), polycystic kidney disease (33), kidney disease (30), congenital hepatic fibrosis (29), autosomal. Pkhd1 Gene Detail Summary Symbol. Pkhd1 Name. polycystic kidney and hepatic disease 1. Synonyms. FPC, tigmin Feature Type. protein coding gene. IDs. MGI:2155808 NCBI Gene: 241035. Alliance. gene page. Transcription Start Sites. 7 TSS. Location & Maps more. Sequence Map Chr1:20128003-20688288 bp, - strand. PKHD1 is a large gene containing 66 coding exons, which encode several alternatively spliced isoforms. The gene codes for the protein fibrocystin , a hepatocyte growth factor receptor-like protein that functions on the primary cilia of the renal collecting duct and biliary epithelial cells Variants in the PKHD1 gene have been identified as the main genetic basis of the disease. 1, 2 Additionally, variants in DZIP1L have been reported in 7 patients from 4 families so far with a moderate renal phenotype. 3 PKHD1, with the longest open reading frame of 67 exons, encodes the cilia-associated protein fibrocystin

Autosomal recessive polycystic kidney disease (ARPKD) is a severe disease of early childhood that is clinically characterized by fibrocystic changes of the kidneys and the liver. The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood. the same gene product, which they named polyductin. They also identified diverse alternatively spliced variants of PKHD1 that could putatively generate isoforms of the PKHD1 product. Using library screening and exon-exon cloning strategies, we identified one of the PKHD1 isoforms, named PKHD1-tentative (PKHD1-T) (12). PKHD1-T encodes a 3,396. Gene. Pkhd1. Organism. Mus musculus (Mouse) Status. Unreviewed-Annotation score: MGI:2155808, Pkhd1 Subcellular location i. Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual. The PKD1 gene provides instructions for making a protein called polycystin-1. This protein is most active in kidney cells before birth; much less of the protein is made in normal adult kidneys. Although its exact function is not well understood, polycystin-1 appears to interact with a smaller, somewhat similar protein called polycystin-2

Gene PKHD

PKHD1 mutations in autosomal recessive polycystic kidney

  1. al fragment of 21-kDa translocates to the nucleus. The.
  2. imum of 86 exons. Its exons are assembled in a complex pattern of alternative splice variants, giving rise to a large number of transcripts that are potentially translated into membrane-bound and secreted protein products 9
  3. N2 - Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated
  4. ated PKHD1 for polycystic kidney and hepatic disease, is located on chromosome 6p (Zerres et al. 1994). The disease is clinically heterogeneous but so far all families have been linked to this locus, including patients with severe or with relatively mild progression of the disease (Guay-Woodford et al. 1995 ; Zerres et al.
  5. o acids (26). PKHD1 has been reported to undergo.

Polycystic Kidney Disease, Autosomal Recessive

The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic, PKHD1-002: ENST00000340994.4: 11589: 3396aa: ENSP00000341097. A mouse model, for human autosomal recessive polycystic kidney disease (ARPKD), where homozygous knockout mice for the Pkhd1 gene are born at a frequency lower than the expected Mendelian ratio (PubMed:18235088).Homozygous mice may lead to embryonic lethality (PubMed:18235088).Mice that escape embryonic lethality and survive into adulthood exhibit mild to severe tubular dilation or cyst.

WikiGenes - PKHD1 - polycystic kidney and hepatic disease 1

Performance of Blueprint Genetics high-quality, clinical grade NGS sequencing assay for single genes. Sensitivity % (TP/ (TP+FN) Specificity %. Single nucleotide variants. 99.89% (99,153/99,266) >99.9999%. Insertions, deletions and indels by sequence analysis PKHD1 is a very large gene, extending over an at least 469 kb genomic segment and including a minimum of 86 exons. Its exons are assembled in a complex pattern of alternative splice variants, giving rise to a large number of transcripts that are potentially translated into membrane-bound and secreted protein products. 9 In the current study, the PKHD1 gene was sequenced in probands and parents from all 36 unique Afrikaner families and 11 PKHD1 intragenic SNPs were identified (Fig. 1b). We found that 24/36 (66.7 %) of the probands were homozygous for a single haplotype (Fig. 1c), while 10/36 (27.8 %) were compound heterozygotes

Cost-effective PKHD1 Genetic Testing for Autosomal

Patients and samples. Mutational analysis of the PKHD1 gene was carried out in 24 Czech families, and the set analyzed by NGS counted 26 samples. The cohort of probands was divided into two groups (A and B) on the basis of their fulfillment of established clinical criteria of ARPKD including: 1) typical kidney involvement on ultrasound (US) (enlarged hyperechogenic kidneys with bilateral poor. The PKHD1 gene homepage. Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. The Reading-frame checker generates a prediction of the effect of whole-exon changes Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD the PKHD1 gene have been identified as the main genetic basis of the disease.1,2 Additionally, variants in DZIP1L have been reported in 7 patients from 4 families so far with a moderate renal phenotype.3 PKHD1, with the longest open reading frame of 67 exons, encodes the cilia-associated protein fibrocystin The main cause of ARPKD are variants in the PKHD1 gene encoding the large transmembrane protein fibrocystin. The mechanisms underlying the observed clinical heterogeneity in ARPKD remain incompletely understood, partly due to the fact that genotype-phenotype correlations have been limited to the association of biallelic null variants in PKHD1.

PKHD1 protein encoded by the gene for autosomal recessive

List of variants in gene PKHD1 reported by Counsyl. List of variants in gene. PKHD1. reported by. Counsyl. NM_138694. 4 (PKHD1): c. 10031T>G (p. Leu3344Ter) NM_138694. 4 (PKHD1): c. 10036T>C (p. Cys3346Arg Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary. The disease is linked to mutations in the PKHD1 gene. In this study, we describe the gene diagnosis and prenatal diagnosis for a consanguineous family with two fetuses diagnosed with polycystic kidney disease by fetal sonography during the pregnancy. Sequence analysis of cDNA synthesized from the PKHD1 mRNA of the second induced fetus.

Gene symbol: Chromosomal location: Gene name: Mutation total: Log in: PKHD1: 6p12.2: PKHD1 ciliary IPT domain containing fibrocystin/polyductin: 51 PKD1 gene, which is reported to be causative of ADPKD. He is also heterozygous in the PKHD1 gene for a variant designated c.10171G>A which, as seen in the second fetus, has not been reported in the literature. Maternal results revealed she is heterozygous for the PKD1 gene c.9829C>T, which is likely a hypomorphic allele for ADPKD

PCK Rat | Charles River Laboratories

Given the poor prognosis for the majority of children with the severe perinatal ARPKD phenotype, there is a regular request for prenatal testing. ARPKD is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene, which consists of 86 exons that are variably assembled into a number of alternatively spliced transcripts Genetic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) is challenging due to the length and allelic heterogeneity of the PKHD1 gene. Mutations appear to be clustered at specific exons, depending on the geographic origin of the patient. We aimed to identify the PKHD1 exons most likely mutated in Spanish ARPKD patients UCL Cancer Institute: PKHD1. Assigned class in TissGDB*. C. Included tissue-specific gene expression resources. TiGER,GTEx. Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) Kidney. Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) KIRC,KIRP,KICH Mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene have been shown to cause autosomal recessive polycystic kidney disease (ARPKD), but the cellular functions of the gene product (PKHD1) remain uncharacterized. To illuminate its properties, the spatial and temporal expression patterns of PKHD1 were determined in mouse, rat, and human tissues by using polyclonal Abs and mAbs.

Unique variants in the PKHD1 gene. The variants shown are described using the NM_138694.3 transcript reference sequence. Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column The proximal promoter of the mouse Pkhd1 gene contains an evolutionarily conserved HNF-1-binding site that is located near a region of deoxyribonuclease hypersensitivity. HNF-1β and the structurally related HNF-1α bind specifically to the Pkhd1 promoter and stimulate gene transcription Gene. PKHD1. Species Human Location. Chr.6: 51626936-51627181 on GRCh38; Amp. Len. 246 Transcripts. 13 RefSeqs (NM) Availability. Made to Order. Catalog # A15629, A15630 Non-tailed | Desalted | Pair : See in cart, See in cart Add Pair To Cart Add to Array View Details.

52 PKHD1 Silencer Select Pre-designed, Validated, and Custom siRNA in Standard, HPLC, and In-vivo Ready Purities PKHD1 gene was constructed in vitro by the Shanghai GenePharma Biotech Company (Shanghai, China), and the LV3-PKHD1 was transfected into HuCCT-1 cells to construct sta

Cancer Cell Metabolism Database ~~ Bioinformatics and

Generation of Pkhd1 knockout mice. A targeting vector was designed to replace exons 1-3 of Pkhd1 with a lacZ reporter gene. The targeting vector contained 2,043 bp of the proximal Pkhd1 promoter linked to a nuclear-localized lacZ reporter gene, followed by exons 4-5 of Pkhd1 (Fig. 1a). The lacZ reporter gene contained a stop codon so that no fusion protein would be generated PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood. ARPKD can also present in adulthood with milder phenotypes. In this study, we describe a 24-year-old woman with atypical polycystic kidney, no family history of renal disease.

Test Autosomal Recessive Polycystic Kidney Disease

Gene Expression: PKHD1 [ NCBI-GEO ] PKHD1 [ EBI - ARRAY_EXPRESS ] PKHD1 [ SEEK ] PKHD1 [ MEM ] Gene Expression Viewer (FireBrowse) PKHD1 [ Firebrowse - Broad ] Genevisible: Expression of PKHD1 in : [perturbations] BioGPS (Tissue expression) 5314: GTEX Portal (Tissue expression) PKHD1: Human Protein Atla What Is Autosomal Recessive Polycystic Kidney Disease, PKHD1-Related? Autosomal recessive polycystic kidney disease (ARPKD), is an inherited condition caused by mutations in the PKHD1 gene in which clusters of fluid-filled sacs (cysts) form in the kidneys, often leading to kidney failure by the age of 10 and a reduced lifespan. Children with ARPKD may have underdeveloped lungs, leading to.

As previously speculated, other independent mutations on the PKHD1 gene could be related to the expression of the disease. 7 We found a 3-fold higher genotypic frequency for PKHD1 SNP: g.49,630,834G>A mutation and a 5-fold higher genotypic frequency for PKHD1 SNP: g.49,597,760A>T in our population compared with those genotypic frequencies. The PKHD1 gene and its translation products have several distinctive features that warrant special note. First, with a genomic size of ⩾469 kb, PKHD1 is among the largest human genes characterized to date. Second, the gene encodes a complex and extensive array of splice variants discovered by RT-PCR and cDNA cloning and confirmed by northern. Gene type: Distinguish antisense genes from sense genes ClinVar version: Total variants: 2024. Download table as spreadsheet. HGVS dbSNP; GRCh37/hg19 6p12. 2 (chr6: 51801779-51878315) x1 GRCh37/hg19 6p12. 3 (chr6 NM_138694. 4 (PKHD1):. It is a confirmed causative gene for Polycystic kidney disease 4 with or without hepatic disease on Gene2Phenotype. There are 4 probands with LOF mutations and have liver cysts and there are murine models that support this. Gene: pkhd1 has been classified as Green List (High Evidence) PKHD1 (6p21.1-p12) is the only gene known to be associated with ARPKD. Mutation detection rates for sequence analysis of the coding region and flanking intronic regions have not been reported; they are expected to be as high or higher than those reported for mutation scanning analyses

Tissue-specific regulation of the mouse Pkhd1 (ARPKD) gene

List of variants in gene PKHD1 reported as pathogenic for Autosomal recessive polycystic kidney disease Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guidelin Database. It has been crucial to catalogue all changes detected in the PKHD1 gene in a locus specific database to provide the users with information on all known variants and therefore to facilitate the characterization of detected PKHD1 variants. It has been set up to be a collection of all variants in this gene, whether they are likely. PKHD1 gene mutations are found responsible for autosomal recessive polycystic kidney disease (ARPKD). However, it is inconvenient to detect the mutations by common polymerase chain reaction (PCR) because the open reading frame of PKHD1 is very long. Recently, long-range (LR) PCR is demonstrated to be a more sensitive mutation screening method for PKHD1 by directly sequencing

241035 - Gene ResultPkhd1 polycystic kidney and hepatic

Exhaustive mutation analysis of PKHD1 gene was carried out by Sanger sequencing and multiple ligation probe amplification (MLPA) technique in 110 individuals. A total of 173 mutations resulting in. The fetus was also found to be heterozygous in the AR PKHD1 gene with a variant not previously described in the literature. Where fetal features consistent with ARPKD are identified in the setting of familial ADPKD, this fetal manifestation of ADPKD, resulting from combined variants in the PKD1 gene, should be considered gene: PKHD1 was added gene: PKHD1 was added to Renal ciliopathies. Sources: UKGTN,Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic.

Increased p53 expression and decreased ERK activation inMICAL2 Gene - GeneCards | MICA2 Protein | MICA2 Antibody

After gene sequencing analysis and filtering against the human gene mutation database (HGMD) professional edition, we identified a new mutation in PKHD1. We then sequenced this gene in family members of this patient . We revealed that the proband had a single base-pair alteration (G>A) on one allele at position 3628 of PKHD1 . This mutation. Mode of inheritance for gene: PKHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal. 25 Jul 2018, Gel status: 2. Entity classified by Genomics England curator. Ellen McDonagh (Genomics England Curator) Gene: pkhd1 has been classified as Amber List (Moderate Evidence). 21 Jun 2018, Gel status: 1 The PKHD1 gene mutations had no overall effect on outcomes of the 48-h MTT proliferation assay (vs. WT: b = 0.09, P = 0.2499). Fig. 5.Truncating mutations in polycystic kidney and hepatic disease 1 (PKHD1) or polycystic kidney disease 2 (PKD2) genes have no major effect on human embryonic kidney (HEK-293) cell proliferation Mutation details: 2 Kb of the mouse Pkhd1 promoter was used to drive the expression of a nuclear-locatized cre gene followed by a metallothionein-1 polyadenylation sequence. No line information was given. (