“ATP8B1”的意思、由来-开放百科全书

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

1. ^{{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 }}
2. ^{{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 }}
3. ^¹{{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 = }}
4. ^{{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.}}
5. ^{{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}}
6. ^{{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|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}}

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 }}

{{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 |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=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=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=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=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= 10.1152/physiolgenomics.1999.1.3.139|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=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=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 |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=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=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=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 }}

Function

References

Further reading

External links