Property Summary

NCBI Gene PubMed Count 60
PubMed Score 255.30
PubTator Score 189.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
astrocytic glioma 2.900 4.4e-03
ependymoma 3.100 5.2e-03
oligodendroglioma 2.900 3.2e-03
esophageal adenocarcinoma 1.700 1.8e-02
osteosarcoma 1.010 2.7e-02
medulloblastoma, large-cell -1.700 1.1e-02
pancreatic ductal adenocarcinoma liver m... 2.801 5.9e-04
intraductal papillary-mucinous adenoma (... 2.800 3.5e-05
intraductal papillary-mucinous carcinoma... 2.600 9.6e-04
intraductal papillary-mucinous neoplasm ... 2.200 2.3e-03
interstitial cystitis -2.500 3.2e-06
group 4 medulloblastoma -1.400 2.4e-02
spina bifida -2.085 4.0e-02
Pick disease 1.300 3.5e-06
ductal carcinoma in situ 1.600 6.7e-04
invasive ductal carcinoma 1.400 1.2e-02
ovarian cancer 2.200 7.6e-04
pituitary cancer -1.300 4.5e-03
dermatomyositis 1.200 2.3e-02

Gene RIF (36)

PMID Text
27050426 GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year
26382629 As hypothyroidism can be another extrahepatic feature of ATP8B1 deficiency, thyroid function should be monitored in these patients.
26240149 the predominant P4 ATPases in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. ATP8B1 and CDC50A were highly concentrated in ISG
26050466 insufficient activity of Atp8b1/FIC1 increases susceptibility to bacterial pneumonia.
25421123 We systematically characterized the molecular consequences of 14 ATP8B1 mutations at exon-intron boundaries associated with ATP8B1 deficiency and found that the majority resulted in total exon skipping
25239307 Data indicate that the lipid flippase (ATP8B1)-transmembrane protein 30A (CDC50A) heterodimer is essential for the apical localization of sodium-dependent bile acid transporter (SLC10A2/ASBT) in Caco-2 cells.
24260417 We did not find an association between heterozygous ATP8B1 variants and chronic pancreatitis in our cohort of patients with hereditary and idiopathic chronic pancreatitis.
23750872 Case Report: suggest contribution of ATP8B1 mutations to drug-induced liver injury from anabolic androgenic steroids marketed as dietary supplements.
23251605 The basal expression of ATP8B1 is driven by a housekeeping-like promoter located 71 kb upstream of the first protein coding exon, and is independent of bile acids and farnesoid X receptor.
23213138 FIC1 signals to FXR via a signaling pathway including PLD2 and PKCzeta
23197899 Case Report: missense ATP8B1 mutation in adult male with progressive familial intrahepatic cholestasis type 1.
23060447 Biochemical analysis of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis
23033845 Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.
20852622 results unveil a new paradigm whereby Atp8b1 is a cardiolipin importer whose capacity to remove cardiolipin from lung fluid is exceeded during inflammation or when Atp8b1 is defective
20683201 Sequence analysis of the genes identified 27% cholestasis subjects with missense, nonsense, deletion, and splice site variants associated with disease phenotypes based on the type of mutation in the JAG1, ATP8B1, ABCB11, or ABCB4 genes.
20512993 critical role in apical membrane organization that is unrelated to its presumed aminophospholipid translocase activity
20447715 facilitating diagnosis and elucidating the differing consequences of ATP8B1 and ABCB11 mutations in progressive familial intrahepatic cholestasis
20414253 Data identified three novel mutations in BSEP, one novel mutation in MDR3, and one heterozygous mutation in ATP8B1 in PFIC patients.
20232290 Progressive familial intrahepatic cholestasis types 1 & 2 differ clinically, biochemically, and histologically at presentation and/or during the disease course. A small proportion of normal-GGT PFIC is likely not due to ATP8B1 or ABCB11 mutations.
20216097 We now report evidence that heterozygous genetically determined alteration of ATP8B1 (encoding FIC1) may also represent a risk factor for transient neonatal cholestasis.
20038848 ATP8B1 gene mutations play an important role in Chinese patients with progressive intrahepatic cholestasis and low gamma-glutamyltransferase. The linked mutation P209T and IVS6+5G>T is a hot mutation in the Chinese population.
19918981 A surprisingly large proportion of ATP8B1 mutations resulted in aberrant folding and decreased expression at the plasma membrane. These effects were partially restored by treatment with 4-phenylbutyrate.
19809379 Findings support the hypothesis that hepatocyte FIC1 enhances FXR signaling via a PKCzeta-dependent signaling pathway.
19731236 PFIC1 mutations lead to the complete absence of canalicular expression, whereas in BRIC1/ICP residual protein is expressed in the canalicular membrane.
19479804 Post-liver transplantation steatosis may be due to a malfunction of the ATP8B1 product.
19478059 show that ATP8B1/Atp8b1 deficiency, both in patients and in Atp8b1(G308V/G308V) mutant mice, causes hearing loss, associated with progressive degeneration of cochlear hair cells
19381753 These results suggest that the PFIC1 mutants have a lower stimulatory effect on FXR activity and cannot interact with CDC50A, which may lead to the development of the features of PFIC1.
19228886 Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064.
19027009 ATP8B1 deficiency predisposes to cholestasis by favoring bile acid-induced injury in the canalicular membrane but does not directly affect FXR expression
18668687 FIC1 signals to FXR via PKC zeta. FIC1-related liver disease is likely related to downstream effects of FXR on bile acid homeostasis.
17948906 Coexpression with CDC50 proteins resulted in relocalization of ATP8B1 from the endoplasmic reticulum to the plasma membrane. In the plasma membrane, ATP8B1 functions as a flippase for phosphatidylserine.
15946126 Loss of familial intrahepatic cholestasis-1 leads to diminished nuclear translocation of farnesoid X receptor(FXR), with subsequent potential for pathologic alterations in intestinal and hepatic bile acid transporter expression
15888793 Observational study of gene-disease association. (HuGE Navigator)
15239083 54 distinct disease mutations: 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations.
14988830 Loss of familial intrahepatic cholestasis-1 leads to diminished nuclear translocation of farnesoid X receptor(FXR), with subsequent potential for pathologic alterations in intestinal and hepatic bile acid transporter expression
12880872 three homologues found and two sequenced and two RNA transcript sizes analysed by northern blot: APT8B2, APT8B3, APT8B4

AA Sequence

MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKAND      1 - 70
RKYHEQPHFMNTKFLCIKESKYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLA     71 - 140
WYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEVIKDGRFKVAKWKEIQVGDVIRLKKNDFVPA    141 - 210
DILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNNRLDKFTGTLF    211 - 280
WRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAGADTKIMKNSGKTRFKRTKIDYLMNYMVYTIFVVLIL    281 - 350
LSAGLAIGHAYWEAQVGNSSWYLYDGEDDTPSYRGFLIFWGYIIVLNTMVPISLYVSVEVIRLGQSHFIN    351 - 420
WDLQMYYAEKDTPAKARTTTLNEQLGQIHYIFSDKTGTLTQNIMTFKKCCINGQIYGDHRDASQHNHNKI    421 - 490
EQVDFSWNTYADGKLAFYDHYLIEQIQSGKEPEVRQFFFLLAVCHTVMVDRTDGQLNYQAASPDEGALVN    491 - 560
AARNFGFAFLARTQNTITISELGTERTYNVLAILDFNSDRKRMSIIVRTPEGNIKLYCKGADTVIYERLH    561 - 630
RMNPTKQETQDALDIFANETLRTLCLCYKEIEEKEFTEWNKKFMAASVASTNRDEALDKVYEEIEKDLIL    631 - 700
LGATAIEDKLQDGVPETISKLAKADIKIWVLTGDKKETAENIGFACELLTEDTTICYGEDINSLLHARME    701 - 770
NQRNRGGVYAKFAPPVQESFFPPGGNRALIITGSWLNEILLEKKTKRNKILKLKFPRTEEERRMRTQSKR    771 - 840
RLEAKKEQRQKNFVDLACECSAVICCRVTPKQKAMVVDLVKRYKKAITLAIGDGANDVNMIKTAHIGVGI    841 - 910
SGQEGMQAVMSSDYSFAQFRYLQRLLLVHGRWSYIRMCKFLRYFFYKNFAFTLVHFWYSFFNGYSAQTAY    911 - 980
EDWFITLYNVLYTSLPVLLMGLLDQDVSDKLSLRFPGLYIVGQRDLLFNYKRFFVSLLHGVLTSMILFFI    981 - 1050
PLGAYLQTVGQDGEAPSDYQSFAVTIASALVITVNFQIGLDTSYWTFVNAFSIFGSIALYFGIMFDFHSA   1051 - 1120
GIHVLFPSAFQFTGTASNALRQPYIWLTIILAVAVCLLPVVAIRFLSMTIWPSESDKIQKHRKRLKAEEQ   1121 - 1190
WQRRQQVFRRGVSTRRSAYAFSHQRGYADLISSGRSIRKKRSPLDAIVADGTAEYRRTGDS            1191 - 1251
//

Text Mined References (63)

PMID Year Title
27050426 2016 The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
26382629 2015 Hypothyroidism Associated with ATP8B1 Deficiency.
26240149 2015 Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION.
26050466 [P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
25421123 2015 Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
25378659 2015 Genetic loci associated with circulating levels of very long-chain saturated fatty acids.
25239307 2014 The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.
24260417 2013 Mutational analysis of ATP8B1 in patients with chronic pancreatitis.
23750872 2013 Hepatotoxicity from anabolic androgenic steroids marketed as dietary supplements: contribution from ATP8B1/ABCB11 mutations?
23251605 2012 ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor.
23213138 2013 Phospholipase D2 mediates signaling by ATPase class I type 8B membrane 1.
23197899 2012 Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
23060447 2012 Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.
23033845 2013 Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1.
22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
21914794 2011 ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner.
20961850 2010 CDC50 proteins are critical components of the human class-1 P4-ATPase transport machinery.
20947505 2010 Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases.
20852622 2010 Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.
20683201 2010 Analysis of gene mutations in children with cholestasis of undefined etiology.
20512993 2010 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.
20510206 2010 CDC50A plays a key role in the uptake of the anticancer drug perifosine in human carcinoma cells.
20447715 2010 Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
20414253 2010 DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
20232290 2010 ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
20216097 2010 Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis.
20038848 2010 Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
19918981 2010 Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
19890347 2010 Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
19809379 2010 ATPase Class I Type 8B Member 1 and protein kinase C zeta induce the expression of the canalicular bile salt export pump in human hepatocytes.
19731236 2009 Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
19479804 2009 Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
19478059 2009 ATP8B1 is essential for maintaining normal hearing.
19381753 2009 FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells.
19228886 2009 Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064.
19027009 2009 ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.
18951430 2008 Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
18668687 2008 The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor.
17948906 2008 ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16628629 2006 Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation.
16341674 2005 Transcriptome analysis of human gastric cancer.
16177791 2005 DNA sequence and analysis of human chromosome 18.
15946126 2005 Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters.
15919184 2005 The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease.
15888793 2005 ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
15657619 2005 Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15239083 2004 Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
15071553 2004 Biology, structure and mechanism of P-type ATPases.
14988830 2004 Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.
12880872 2003 FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11682026 2001 FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte.
11093741 2000 A missense mutation in FIC1 is associated with greenland familial cholestasis.
11015572 1999 Differential expression of putative transbilayer amphipath transporters.
10679031 Progressive familial intrahepatic cholestasis: a personal perspective.
9918928 1999 Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity.
9548971 1998 Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs.
9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
7894490 1994 Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis.
7655458 1995 Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.
5762004 1969 Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred.