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
SymbolFibrocystin
InterProIPR029927
Membranome632
PKHD1
Identifiers
AliasesPKHD1, ARPKD, FCYT, TIGM1, polycystic kidney and hepatic disease 1 (autosomal recessive), fibrocystin/polyductin, FPC, PKD4, PKHD1 ciliary IPT domain containing fibrocystin/polyductin
External IDsOMIM: 606702 MGI: 2155808 HomoloGene: 16336 GeneCards: PKHD1
Gene location (Human)
Chr.Chromosome 6 (human)[1]
Band6p12.3-p12.2Start51,615,299 bp[1]
End52,087,613 bp[1]
Orthologs
SpeciesHumanMouse
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 MbChr 1: 20.06 – 20.62 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Pathology

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

gollark: So you can just use P=IV with that, as you can work out the voltage.
gollark: voltage on primary/voltage on secondary = turns on primary/turns on secondary if I remember right, and the power on both things is the same (ignoring losses).
gollark: Just solve for a.
gollark: v = end velocity, u = start velocity, a = acceleration, s = distance.
gollark: My physics data/formulæ sheet says v² = u² + 2as.

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.
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