ATP8B1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
ATPase, aminophospholipid transporter, class I, type 8B, member 1
Identifiers
Symbols ATP8B1 ; ATPIC; BRIC; FIC1; ICP1; PFIC; PFIC1
External IDs OMIM602397 MGI1859665 HomoloGene21151 GeneCards: ATP8B1 Gene
EC number 3.6.3.1
RNA expression pattern
PBB GE ATP8B1 214594 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5205 54670
Ensembl ENSG00000081923 ENSMUSG00000039529
UniProt O43520 Q148W0
RefSeq (mRNA) NM_005603 NM_001001488
RefSeq (protein) NP_005594 NP_001001488
Location (UCSC) Chr 18:
55.31 – 55.47 Mb
Chr 18:
64.53 – 64.66 Mb
PubMed search [1] [2]

Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ATP8B1 gene.[1][2][3] This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis.[4]

Function[edit]

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.[5][6] 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.[3] Exactly how mutations result in these diseases is not currently understood.

References[edit]

  1. ^ Bull LN, van Eijk MJ, Pawlikowska L, DeYoung JA, Juijn JA, Liao M, Klomp LW, Lomri N, Berger R, Scharschmidt BF, Knisely AS, Houwen RH, Freimer NB (Mar 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. 
  2. ^ Carlton VE, Knisely AS, Freimer NB (Oct 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. doi:10.1093/hmg/4.6.1049. PMID 7655458. 
  3. ^ a b "Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1". 
  4. ^ 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. 
  5. ^ Jansen PL, Müller M (July 2000). "The molecular genetics of familial intrahepatic cholestasis". Gut 47 (1): 1–5. doi:10.1136/gut.47.1.1. PMC 1727973. PMID 10861251. 
  6. ^ 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. doi:10.1016/S0168-8278(01)00158-1. PMID 11682026. 

Further reading[edit]

External links[edit]