ATP8B1 (ATPase phospholipid transporting 8B1)

2007-02-01  

Identity

HGNC
LOCATION
18q21.31
LOCUSID
ALIAS
ATPIC,BRIC,FIC1,ICP1,PFIC,PFIC1

Other Information

Locus ID:

NCBI: 5205
MIM: 602397
HGNC: 3706
Ensembl: ENSG00000081923

Variants:

dbSNP: 5205
ClinVar: 5205
TCGA: ENSG00000081923
COSMIC: ATP8B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081923ENST00000585322K7ESK2
ENSG00000081923ENST00000591728K7EQC4
ENSG00000081923ENST00000642462A0A2R8Y5C5
ENSG00000081923ENST00000648039A0A2R8Y5C5
ENSG00000081923ENST00000648467A0A3B3IRQ1
ENSG00000081923ENST00000648908O43520

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179489062008ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity.83
152390832004Characterization of mutations in ATP8B1 associated with hereditary cholestasis.62
208526222010Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.62
149888302004Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity.43
202322902010ATP8B1 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.42
194780592009ATP8B1 is essential for maintaining normal hearing.38
204477152010Differences in presentation and progression between severe FIC1 and BSEP deficiencies.38
186686872008The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor.32
190270092009ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.31
158887932005ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.27

Citation

Dessen P

ATP8B1 (ATPase phospholipid transporting 8B1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45755/atp8b1