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ATPase Class I Type 8B1 (ATP8B1)

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ATPIC; BRIC; FIC1; PFIC; PFIC1; Familial intrahepatic cholestasis type 1; P4-ATPase flippase complex alpha subunit ATP8B1; Phospholipid-transporting ATPase IC

ATPase Class I Type 8B1 (ATP8B1)
CCC G399
HGNC 3706
MGI 1859665
PubMed 17948906
RGD 1308488
UniProt O43520
Wiki ATP8B1
This protein is associated with progressive familial intrahepatic cholestasis type 1 as well as benign recurrent intrahepatic cholestasis. ATP8B1 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. 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. Exactly how mutations result in these diseases is not currently understood.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase Class I Type 8B1 (ATP8B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase Class I Type 8B1 (ATP8B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase Class I Type 8B1 (ATP8B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase Class I Type 8B1 (ATP8B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase Class I Type 8B1 (ATP8B1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase Class I Type 8B1 (ATP8B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase Class I Type 8B1 (ATP8B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase Class I Type 8B1 (ATP8B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase Class I Type 8B1 (ATP8B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase Class I Type 8B1 (ATP8B1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant ATPase Class I Type 8B1 (ATP8B1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to ATPase Class I Type 8B1 (ATP8B1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to ATPase Class I Type 8B1 (ATP8B1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for ATPase Class I Type 8B1 (ATP8B1) CLIA Kit Customized Service Offer
n/a ELISA Kit for ATPase Class I Type 8B1 (ATP8B1) ELISA Kit Customized Service Offer
  1. "A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis."Nat. Genet. 18:219-223(1998) [PubMed] [Europe PMC] [Abstract]
  2. "DNA sequence and analysis of human chromosome 18." Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
  3. "Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs."Genome Res. 8:354-361(1998) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity."Hepatology 47:268-278(2008) [PubMed] [Europe PMC] [Abstract]
  6. "CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells."Biochem. Pharmacol. 80:793-800(2010) [PubMed] [Europe PMC] [Abstract]
  7. "A flippase-independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells."Hepatology 51:2049-2060(2010) [PubMed] [Europe PMC] [Abstract]
  8. "Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases."J. Biol. Chem. 285:40088-40096(2010) [PubMed] [Europe PMC] [Abstract]
  9. "CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery."J. Biol. Chem. 285:40562-40572(2010) [PubMed] [Europe PMC] [Abstract]
  10. "ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner."J. Biol. Chem. 286:38159-38167(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity."Hepatology 29:506-508(1999) [PubMed] [Europe PMC] [Abstract]
  12. "A missense mutation in FIC1 is associated with Greenland familial cholestasis."Hepatology 32:1337-1341(2000) [PubMed] [Europe PMC] [Abstract]
  13. "Characterization of mutations in ATP8B1 associated with hereditary cholestasis." Hepatology 40:27-38(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy."Eur. J. Hum. Genet. 13:435-439(2005) [PubMed] [Europe PMC] [Abstract]
  15. "ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy."Gut 54:829-834(2005) [PubMed] [Europe PMC] [Abstract]
  16. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  17. "Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1."Hepatology 50:1597-1605(2009) [PubMed] [Europe PMC] [Abstract]
  18. "Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT."J. Pediatr. Gastroenterol. Nutr. 50:179-183(2010) [PubMed] [Europe PMC] [Abstract]
  19. "Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis."World J. Gastroenterol. 18:6504-6509(2012) [PubMed] [Europe PMC] [Abstract]