Fibrocystin

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.

Fibrocystin
Identifiers
Symbol	Fibrocystin
InterPro	IPR029927
Membranome	632

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
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p12.3-p12.2 Start 51,615,299 bp[1] End 52,087,613 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 A3-A4 Start 20,057,779 bp[2] End 20,618,064 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • receptor activity • signaling receptor activity Cellular component • cytoplasm • integral component of membrane • ciliary basal body • centrosome • cell projection • membrane • cell 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 • negative regulation of cellular component movement • cellular calcium ion homeostasis • negative regulation of apoptotic process • positive regulation of cell proliferation • regulation of ERK1 and ERK2 cascade • negative regulation of NF-kappaB transcription factor activity • homeostatic process • cilium morphogenesis • cell-cell adhesion Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	5314	241035
Ensembl	ENSG00000170927	ENSMUSG00000043760
UniProt	P08F94	n/a
RefSeq (mRNA)	NM_138694 NM_170724	NM_153179
RefSeq (protein)	NP_619639 NP_733842	n/a
Location (UCSC)	Chr 6: 51.62 – 52.09 Mb	Chr 1: 20.06 – 20.62 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Pathology

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

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. doi:10.1073/pnas.0400073101. PMC 356947. PMID 14983006.

External links

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