Fibrocystin

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)
End	52,087,613 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	20,688,288 bp
RNA expression pattern
	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
	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
	5314
	241035
	ENSG00000170927
	ENSMUSG00000043760
	P08F94
	E9PZ36
	NM_138694; NM_170724
	NM_153179
	NP_619639; NP_733842
	NP_694819
	Wikidata
View/Edit Human	View/Edit Mouse

Fibrocystin
Fibrocystin
Identifiers
Symbol	Fibrocystin
InterPro	IPR029927
Membranome	632

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.^[5] 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.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000170927 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000043760 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000170927 – Ensembl, May 2017

[refGRCm38Ensembl-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.

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