View source for ATP8B1

{{PBB_Controls
| update_page = yes 
| require_manual_inspection = no 
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}

<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
 | image =  
 | image_source =  
 | PDB = 
 | Name = ATPase, Class I, type 8B, member 1
 | HGNCid = 3706
 | Symbol = ATP8B1
 | AltSymbols =; ATPIC; BRIC; FIC1; PFIC; PFIC1
 | OMIM = 602397
 | ECnumber =  
 | Homologene = 21151
 | MGIid = 1859665
 | GeneAtlas_image1 = PBB_GE_ATP8B1_214594_x_at_tn.png
 | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0000287 |text = magnesium ion binding}} {{GNF_GO|id=GO:0004012 |text = phospholipid-translocating ATPase activity}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0015662 |text = ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism}} {{GNF_GO|id=GO:0016787 |text = hydrolase activity}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} 
 | Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016324 |text = apical plasma membrane}} 
 | Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006812 |text = cation transport}} {{GNF_GO|id=GO:0008206 |text = bile acid metabolic process}} {{GNF_GO|id=GO:0015721 |text = bile acid and bile salt transport}} {{GNF_GO|id=GO:0016481 |text = negative regulation of transcription}} 
 | Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5205
    | Hs_Ensembl = ENSG00000081923
    | Hs_RefseqProtein = NP_005594
    | Hs_RefseqmRNA = NM_005603
    | Hs_GenLoc_db =  
    | Hs_GenLoc_chr = 18
    | Hs_GenLoc_start = 53466591
    | Hs_GenLoc_end = 53550037
    | Hs_Uniprot = O43520
    | Mm_EntrezGene = 54670
    | Mm_Ensembl =  
    | Mm_RefseqmRNA = NM_001001488
    | Mm_RefseqProtein = NP_001001488
    | Mm_GenLoc_db =  
    | Mm_GenLoc_chr =  
    | Mm_GenLoc_start =  
    | Mm_GenLoc_end =  
    | Mm_Uniprot =  
  }}
}}

'''ATPase, Class I, type 8B, member 1''', also known as '''ATP8B1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5205| accessdate = }}</ref> This protein is associated with [[progressive familial intrahepatic cholestasis]] type 1.

<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
| section_title = 
| summary_text = This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. 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.<ref name="entrez">{{cite web | title = Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5205| accessdate = }}</ref>
}}

==References==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading 
| citations = 
*{{cite journal  | author=Knisely AS |title=Progressive familial intrahepatic cholestasis: a personal perspective. |journal=Pediatr. Dev. Pathol. |volume=3 |issue= 2 |pages= 113-25 |year= 2000 |pmid= 10679031 |doi=  }}
*{{cite journal  | author=Harris MJ, Le Couteur DG, Arias IM |title=Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters. |journal=J. Gastroenterol. Hepatol. |volume=20 |issue= 6 |pages= 807-17 |year= 2006 |pmid= 15946126 |doi= 10.1111/j.1440-1746.2005.03743.x }}
*{{cite journal  | author=Clayton RJ, Iber FL, Ruebner BH, McKusick VA |title=Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. |journal=Am. J. Dis. Child. |volume=117 |issue= 1 |pages= 112-24 |year= 1969 |pmid= 5762004 |doi=  }}
*{{cite journal  | author=Carlton VE, Knisely AS, Freimer NB |title=Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. |journal=Hum. Mol. Genet. |volume=4 |issue= 6 |pages= 1049-53 |year= 1995 |pmid= 7655458 |doi=  }}
*{{cite journal  | author=Houwen RH, Baharloo S, Blankenship K, ''et al.'' |title=Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. |journal=Nat. Genet. |volume=8 |issue= 4 |pages= 380-6 |year= 1995 |pmid= 7894490 |doi= 10.1038/ng1294-380 }}
*{{cite journal  | author=Bull LN, van Eijk MJ, Pawlikowska L, ''et al.'' |title=A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. |journal=Nat. Genet. |volume=18 |issue= 3 |pages= 219-24 |year= 1998 |pmid= 9500542 |doi= 10.1038/ng0398-219 }}
*{{cite journal  | author=Halleck MS, Pradhan D, Blackman C, ''et al.'' |title=Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. |journal=Genome Res. |volume=8 |issue= 4 |pages= 354-61 |year= 1998 |pmid= 9548971 |doi=  }}
*{{cite journal  | author=Tygstrup N, Steig BA, Juijn JA, ''et al.'' |title=Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. |journal=Hepatology |volume=29 |issue= 2 |pages= 506-8 |year= 1999 |pmid= 9918928 |doi= 10.1002/hep.510290214 }}
*{{cite journal  | author=Halleck MS, Lawler JF JR, Blackshaw S, ''et al.'' |title=Differential expression of putative transbilayer amphipath transporters. |journal=Physiol. Genomics |volume=1 |issue= 3 |pages= 139-50 |year= 2001 |pmid= 11015572 |doi=  }}
*{{cite journal  | author=Klomp LW, Bull LN, Knisely AS, ''et al.'' |title=A missense mutation in FIC1 is associated with greenland familial cholestasis. |journal=Hepatology |volume=32 |issue= 6 |pages= 1337-41 |year= 2001 |pmid= 11093741 |doi= 10.1053/jhep.2000.20520 }}
*{{cite journal  | author=Eppens EF, van Mil SW, de Vree JM, ''et al.'' |title=FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. |journal=J. Hepatol. |volume=35 |issue= 4 |pages= 436-43 |year= 2002 |pmid= 11682026 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Harris MJ, Arias IM |title=FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. |journal=Biochim. Biophys. Acta |volume=1633 |issue= 2 |pages= 127-31 |year= 2003 |pmid= 12880872 |doi=  }}
*{{cite journal  | author=Chen F, Ananthanarayanan M, Emre S, ''et al.'' |title=Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. |journal=Gastroenterology |volume=126 |issue= 3 |pages= 756-64 |year= 2004 |pmid= 14988830 |doi=  }}
*{{cite journal  | author=Klomp LW, Vargas JC, van Mil SW, ''et al.'' |title=Characterization of mutations in ATP8B1 associated with hereditary cholestasis. |journal=Hepatology |volume=40 |issue= 1 |pages= 27-38 |year= 2004 |pmid= 15239083 |doi= 10.1002/hep.20285 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Demeilliers C, Jacquemin E, Barbu V, ''et al.'' |title=Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. |journal=Hepatology |volume=43 |issue= 5 |pages= 1125-34 |year= 2006 |pmid= 16628629 |doi= 10.1002/hep.21160 }}
}}
{{refend}}


==External links==
* {{MeshName|ATP8B1+protein,+human}}

{{gene-18-stub}}

[[Category:Transmembrane proteins]]
{{WikiDoc Sources}}