ATP8B1: Difference between revisions

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Latest revision as of 18:28, 29 August 2017

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

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

↑ 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.
↑ 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.
↑ ^3.0 ^3.1 "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. doi:10.1136/gut.47.1.1. PMC 1727973. 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. doi:10.1016/S0168-8278(01)00158-1. PMID 11682026.

Knisely AS (2000). "Progressive familial intrahepatic cholestasis: a personal perspective". Pediatr. Dev. Pathol. 3 (2): 113–25. doi:10.1007/s100240050016. 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. doi:10.1001/archpedi.1969.02100030114014. PMID 5762004.
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.
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. doi:10.1101/gr.8.4.354. 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" (PDF). 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. PMC 139241. 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. doi:10.1016/S1388-1981(03)00107-0. 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. doi:10.1053/j.gastro.2003.12.013. 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. PMC 528928. 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.

External links

ATP8B1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
Human ATP8B1 genome location and ATP8B1 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

[pmid9500542-1] 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.

[pmid7655458-2] 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.

[entrez-3] 3.0 ^3.1 "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.

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[5]

[6]

@@ Line 1: / Line 1: @@
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+{{Infobox_gene}}
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-| update_summary = yes
-| update_citations = yes
-}}
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+'''Probable phospholipid-transporting ATPase IC''' is an [[enzyme]] that in humans is encoded by the ''ATP8B1'' [[gene]].<ref name="pmid9500542">{{cite journal |vauthors=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 | 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 |date=Mar 1998 | pmid = 9500542 | pmc =  | doi = 10.1038/ng0398-219 }}</ref><ref name="pmid7655458">{{cite journal |vauthors=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 |date=Oct 1995 | pmid = 7655458 | pmc =  | doi =10.1093/hmg/4.6.1049  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ATP8B1 ATPase, Class I, type 8B, member 1| url = https://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 as well as [[benign recurrent intrahepatic cholestasis]].<ref>{{cite journal |author=Klomp LW |title=Characterization of mutations in ATP8B1 associated with hereditary cholestasis |journal=Hepatology |volume=40 |issue=1 |pages=27–38 |date=July 2004 |pmid=15239083 |doi=10.1002/hep.20285 |url= |name-list-format=vanc|author2=Vargas JC |author3=van Mil SW |display-authors=3 |last4=Pawlikowska |first4=Ludmila |last5=Strautnieks |first5=Sandra S. |last6=Van Eijk |first6=Michiel J. T. |last7=Juijn |first7=Jenneke A. |last8=Pabón-Peña |first8=Carlos |last9=Smith |first9=Lauren B.}}</ref>
-{{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.
+== Function ==
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
+This gene encodes a member of the [[P-ATPase|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.<ref>{{cite journal |vauthors=Jansen PL, Müller M |title=The molecular genetics of familial intrahepatic cholestasis |journal=Gut |volume=47 |issue=1 |pages=1–5 |date=July 2000 |pmid=10861251 |doi= 10.1136/gut.47.1.1|url=http://gut.bmj.com/cgi/pmidlookup?view=long&pmid=10861251 |pmc=1727973}}</ref><ref>{{cite journal |author=Eppens EF |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 |date=October 2001 |pmid=11682026 |doi= 10.1016/S0168-8278(01)00158-1|url=http://linkinghub.elsevier.com/retrieve/pii/S0168827801001581 |name-list-format=vanc|author2=van Mil SW |author3=de Vree JM |display-authors=3 |last4=Mok |first4=KS |last5=Juijn |first5=JA |last6=Oude Elferink |first6=RP |last7=Berger |first7=R |last8=Houwen |first8=RH |last9=Klomp |first9=LW}}</ref> 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"/> Exactly how mutations result in these diseases is not currently understood.
-{{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}}
+{{reflist}}
 ==Further reading==
 {{refbegin | 2}}
-{{PBB_Further_reading
+*{{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=10.1007/s100240050016  }}
-| citations =
+*{{cite journal  |vauthors=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=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  |vauthors=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=  10.1001/archpedi.1969.02100030114014}}
-*{{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=Houwen RH |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  |name-list-format=vanc| author2=Baharloo S  | author3=Blankenship K  | display-authors=3  | last4=Raeymaekers  | first4=Peter  | last5=Juyn  | first5=Jenneke  | last6=Sandkuijl  | first6=Lodewijk A.  | last7=Freimer  | first7=Nelson B. }}
-*{{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=Halleck MS |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=  10.1101/gr.8.4.354|name-list-format=vanc| author2=Pradhan D  | author3=Blackman C  | display-authors=3  | last4=Berkes  | first4=C  | last5=Williamson  | first5=P  | last6=Schlegel  | first6=RA  }}
-*{{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=Tygstrup N |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  |name-list-format=vanc| author2=Steig BA  | author3=Juijn JA  | display-authors=3  | last4=Bull  | first4=Laura N.  | last5=Houwen  | first5=Roderick H. }}
-*{{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=Halleck MS |title=Differential expression of putative transbilayer amphipath transporters |journal=Physiol. Genomics |volume=1 |issue= 3 |pages= 139–50 |year= 2001 |pmid= 11015572 |doi=  |name-list-format=vanc| author2=Lawler JF JR  | author3=Blackshaw S  | display-authors=3  | last4=Gao  | first4=L  | last5=Nagarajan  | first5=P  | last6=Hacker  | first6=C  | last7=Pyle  | first7=S  | last8=Newman  | first8=JT  | last9=Nakanishi  | first9=Y | url=http://physiolgenomics.physiology.org/content/physiolgenomics/1/3/139.full.pdf }}
-*{{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=Klomp LW |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  |name-list-format=vanc| author2=Bull LN  | author3=Knisely AS  | display-authors=3  | last4=Vanderdoelen  | first4=M  | last5=Juijn  | first5=J  | last6=Berger  | first6=R  | last7=Forget  | first7=S  | last8=Nielsen  | first8=I  | last9=Eiberg  | first9=H }}
-*{{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=Strausberg RL |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  | pmc=139241  |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
-*{{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  |vauthors=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=  10.1016/S1388-1981(03)00107-0}}
-*{{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=Chen F |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=10.1053/j.gastro.2003.12.013  |name-list-format=vanc| author2=Ananthanarayanan M  | author3=Emre S  | display-authors=3  | last4=Neimark  | first4=Ezequiel  | last5=Bull  | first5=Laura N.  | last6=Knisely  | first6=A.S.  | last7=Strautnieks  | first7=Sandra S.  | last8=Thompson  | first8=Richard J.  | last9=Magid  | first9=Margret S.  }}
-*{{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=Gerhard DS |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  | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
-*{{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=Demeilliers C |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  |name-list-format=vanc| author2=Jacquemin E  | author3=Barbu V  | display-authors=3  | last4=Mergey  | first4=Martine  | last5=Paye  | first5=François  | last6=Fouassier  | first6=Laura  | last7=Chignard  | first7=Nicolas  | last8=Housset  | first8=Chantal  | last9=Lomri  | first9=Nour-Eddine }}
-*{{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}}
+* {{UCSC gene info|ATP8B1}}
-{{gene-18-stub}}
+{{Acid anhydride hydrolases}}
+{{Enzymes}}
+{{Portal bar|Molecular and Cellular Biology|border=no}}
+[[Category:EC 3.6.3]]
 [[Category:Transmembrane proteins]]
-{{WikiDoc Sources}}
+{{gene-18-stub}}

v t e Enzymes
Activity	Active site Binding site Catalytic triad Oxyanion hole Enzyme promiscuity Catalytically perfect enzyme Coenzyme Cofactor Enzyme catalysis
Regulation	Allosteric regulation Cooperativity Enzyme inhibitor Enzyme activator
Classification	EC number Enzyme superfamily Enzyme family List of enzymes
Kinetics	Enzyme kinetics Eadie–Hofstee diagram Hanes–Woolf plot Lineweaver–Burk plot Michaelis–Menten kinetics
Types	EC1 Oxidoreductases (list) EC2 Transferases (list) EC3 Hydrolases (list) EC4 Lyases (list) EC5 Isomerases (list) EC6 Ligases (list)

ATP8B1: Difference between revisions

Latest revision as of 18:28, 29 August 2017

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