Property Summary

NCBI Gene PubMed Count 60
PubMed Score 255.30
PubTator Score 189.75

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
interstitial cystitis 2299 3.17652355711586E-6
Pick disease 1893 3.53158577682096E-6
intraductal papillary-mucinous adenoma (IPMA) 2956 3.49632688867409E-5
pancreatic ductal adenocarcinoma liver metastasis 1795 5.9396669113252E-4
ductal carcinoma in situ 1745 6.66773159507424E-4
ovarian cancer 8492 7.5763059058634E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 9.56168641097455E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0022525338196799
oligodendroglioma 2849 0.00315545025951383
astrocytic glioma 2241 0.00440413508916305
pituitary cancer 1972 0.00453717908139307
ependymoma 2514 0.0052145199502725
medulloblastoma, large-cell 6234 0.0113707428424996
invasive ductal carcinoma 2950 0.0115621220538906
esophageal adenocarcinoma 737 0.0179350527878244
dermatomyositis 967 0.0231192151942314
group 4 medulloblastoma 1875 0.0240108493184735
osteosarcoma 7933 0.0270235715819586
spina bifida 1064 0.0395152354081633
Disease Target Count Z-score Confidence
Cholestasis 93 6.703 3.4
Liver disease 219 5.444 2.7
ARC syndrome 14 3.16 1.6

Expression

Synonym

Accession O43520 Q9BTP8
Symbols BRIC
FIC1
ICP1
PFIC
ATPIC
PFIC1

Gene

PANTHER Protein Class (2)

  Ortholog (12)

Species Source
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Pig OMA Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA EggNOG Inparanoid

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
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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.
More...