ATP8B1

From Wikipedia, the free encyclopedia

ATPase, Class I, type 8B, member 1

Identifiers

ATP8B1; ATPIC; BRIC; FIC1; PFIC; PFIC1

External IDs

OMIM: 602397 MGI: 1859665 HomoloGene: 21151

Gene ontology
Molecular Function:	• nucleotide binding • magnesium ion binding • phospholipid-translocating ATPase activity • ATP binding • ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism • hydrolase activity • ATPase activity
Cellular Component:	• membrane fraction • integral to plasma membrane • membrane • apical plasma membrane
Biological Process:	• transport • cation transport • bile acid metabolic process • bile acid and bile salt transport • negative regulation of transcription

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_005603 (mRNA)
NP_005594 (protein)

NM_001001488 (mRNA)
NP_001001488 (protein)

Location

Chr 18: 53.47 - 53.55 Mb

n/a

Pubmed search

[1]

[2]

ATPase, Class I, type 8B, member 1, also known as ATP8B1, is a human gene.^[1] This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.^[2]

This gene encodes a member of the P-type cation transport ATPase family and specifically belongs to the subfamily of aminophospholipid-transporting ATPases. This protein is highly expressed in the small intestine, stomach, pancreas, and prostate and is also found in cholangiocytes and the canalicular membranes of hepatocytes in the liver.^[3] ^[4] The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis.^[1] Exactly how mutations result in these diseases is not currently understood.

[edit] References

^ ^a ^b Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1.
^ Klomp LW, Vargas JC, van Mil SW, et al (July 2004). "Characterization of mutations in ATP8B1 associated with hereditary cholestasis". Hepatology 40 (1): 27–38. doi:10.1002/hep.20285. PMID 15239083.
^ Jansen PL, Müller M (July 2000). "The molecular genetics of familial intrahepatic cholestasis". Gut 47 (1): 1–5. PMID 10861251.
^ Eppens EF, van Mil SW, de Vree JM, et al (October 2001). "FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte". J. Hepatol. 35 (4): 436–43. PMID 11682026.

[edit] Further reading

Knisely AS (2000). "Progressive familial intrahepatic cholestasis: a personal perspective.". Pediatr. Dev. Pathol. 3 (2): 113–25. PMID 10679031.
Harris MJ, Le Couteur DG, Arias IM (2006). "Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.". J. Gastroenterol. Hepatol. 20 (6): 807–17. doi:10.1111/j.1440-1746.2005.03743.x. PMID 15946126.
Clayton RJ, Iber FL, Ruebner BH, McKusick VA (1969). "Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred.". Am. J. Dis. Child. 117 (1): 112–24. PMID 5762004.
Carlton VE, Knisely AS, Freimer NB (1995). "Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.". Hum. Mol. Genet. 4 (6): 1049–53. PMID 7655458.
Houwen RH, Baharloo S, Blankenship K, et al. (1995). "Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.". Nat. Genet. 8 (4): 380–6. doi:10.1038/ng1294-380. PMID 7894490.
Bull LN, van Eijk MJ, Pawlikowska L, et al. (1998). "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.". Nat. Genet. 18 (3): 219–24. doi:10.1038/ng0398-219. PMID 9500542.
Halleck MS, Pradhan D, Blackman C, et al. (1998). "Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs.". Genome Res. 8 (4): 354–61. PMID 9548971.
Tygstrup N, Steig BA, Juijn JA, et al. (1999). "Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.". Hepatology 29 (2): 506–8. doi:10.1002/hep.510290214. PMID 9918928.
Halleck MS, Lawler JF JR, Blackshaw S, et al. (2001). "Differential expression of putative transbilayer amphipath transporters.". Physiol. Genomics 1 (3): 139–50. PMID 11015572.
Klomp LW, Bull LN, Knisely AS, et al. (2001). "A missense mutation in FIC1 is associated with greenland familial cholestasis.". Hepatology 32 (6): 1337–41. doi:10.1053/jhep.2000.20520. PMID 11093741.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Harris MJ, Arias IM (2003). "FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body.". Biochim. Biophys. Acta 1633 (2): 127–31. PMID 12880872.
Chen F, Ananthanarayanan M, Emre S, et al. (2004). "Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.". Gastroenterology 126 (3): 756–64. PMID 14988830.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Demeilliers C, Jacquemin E, Barbu V, et al. (2006). "Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation.". Hepatology 43 (5): 1125–34. doi:10.1002/hep.21160. PMID 16628629.