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PKHD1
Identifiers
Aliases	PKHD1, ARPKD, FCYT, TIGM1, polycystic kidney and hepatic disease 1 (autosomal recessive), fibrocystin/polyductin, FPC, PKD4, PKHD1 ciliary IPT domain containing fibrocystin/polyductin
External IDs	OMIM: 606702; MGI: 2155808; HomoloGene: 16336; GeneCards: PKHD1; OMA:PKHD1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p12.3-p12.2 Start 51,615,299 bp End 52,087,613 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 A4 Start 20,128,003 bp End 20,688,288 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla pancreatic epithelial cell body of pancreas corpus epididymis human kidney testicle tibialis anterior muscle caput epididymis islet of Langerhans right lobe of liver Top expressed in transitional epithelium of urinary bladder human kidney renal calyx efferent ductule medullary collecting duct inner renal medulla right kidney left lobe of liver morula pancreas More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding signaling receptor activity Cellular component cytoplasm integral component of membrane ciliary basal body centrosome cell projection membrane plasma membrane spindle chromosome apical plasma membrane anchored component of external side of plasma membrane perinuclear region of cytoplasm mitotic spindle chromosome, centromeric region extracellular exosome cytoskeleton cilium Biological process negative regulation of protein kinase B signaling regulation of centrosome duplication regulation of TOR signaling kidney development cellular calcium ion homeostasis negative regulation of apoptotic process positive regulation of cell population proliferation regulation of ERK1 and ERK2 cascade negative regulation of NF-kappaB transcription factor activity homeostatic process cilium assembly cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5314 241035 Ensembl ENSG00000170927 ENSMUSG00000043760 UniProt P08F94 E9PZ36 RefSeq (mRNA) NM_138694 NM_170724 NM_153179 RefSeq (protein) NP_619639 NP_733842 NP_694819 Location (UCSC) Chr 6: 51.62 – 52.09 Mb Chr 1: 20.13 – 20.69 Mb PubMed search
Wikidata
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Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.

Pathology

Mutations of its encoding gene (chromosomal locus 6p12.2) can cause autosomal recessive polycystic kidney disease. 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.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000170927 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000043760 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Zhang M, Mai W, Li C, Cho S, Hao C, Moeckel G, Zhao R, Kim I, Wang J, Xiong H, Wang H, Sato Y, Wu Y, Nakanuma Y, Lilova M, Pei Y, Harris R, Li S, Coffey R, Sun L, Wu D, Chen X, Breyer M, Zhao Z, McKanna J, Wu G (2004). "PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells". Proc Natl Acad Sci USA. 101 (8): 2311–2316. Bibcode:2004PNAS..101.2311Z. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006.
6. Kim, Ingyu; Fu, Yulong; Hui, Kwokyin; Moeckel, Gilbert; Mai, Weiyi; Li, Cunxi; Liang, Dan; Zhao, Ping; Ma, Jie; Chen, Xing-Zhen; George, Alfred L.; Coffey, Robert J.; Feng, Zhong-Ping; Wu, Guanqing (March 2008). "Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function". Journal of the American Society of Nephrology. 19 (3): 455–468. doi:10.1681/ASN.2007070770. PMC 2391052. PMID 18235088.

External links

• GeneReviews/NIH/NCBI/UW entry on Polycystic Kidney Disease, Autosomal Recessive
• fibrocystin+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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