ATP8B1 Membrane Protein Introduction

Introduction of ATP8B1

This gene product belongs to the family of P-type cation transport ATPase, which is a member of aminophospholipid-transporting ATPases superfamily. The phospholipid-transporting ATPase transport phospholipid from one side of a lipid bilayer to another. Mutations in this gene may lead to benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis type 1.

Basic Information of ATP8B1>
Protein Name Phospholipid-transporting ATPase IC
Gene Name ATP8B1
Aliases ATPase class I type 8B member 1, Familial intrahepatic cholestasis type 1, P4-ATPase flippase complex alpha subunit ATP8B1
Organism Homo sapiens (Human)
UniProt ID O43520
Transmembrane Times 10
Length (aa) 1251

Function ofATP8B1 Membrane Protein

ATP8B1 is an indispensable component of a P4-ATPase flippase complex, which catalyzes the ATP hydrolysis along with the transport of aminophospholipids from the one side to another of various membranes, to keep the maintenance of unsymmetric distribution of phospholipids. Phospholipid translocation is also proved to be implicated in the formation of vesicles and in the uptake of lipid signaling molecules. It is also reported that ATP8B1 plays a role in intaking bile acids from intestinal contents into intestinal mucosa, and in transporting bile acids into the canaliculus or both. In coordination with ABCB4, it has an influence in establishing the integrity of the canalicular membrane to protect hepatocytes from bile salts. In cooperation with TMEM30A, it participates in the uptake of synthetic drug alkylphospholipid perifosine. It may also be associated with the formation of microvillus in polarized epithelial cells, which seems to have no connection with its flippase activity. Fig.1 shows a schematic representation of ATP8B1 structure in the plasma membrane.

Schematic representation of ATP8B1 structure. Fig.1 Schematic representation of ATP8B1 structure. (Jansen, 2000)

Application of ATP8B1 Membrane Protein in Literature

  1. Li L.L., et al. Hypothyroidism Associated with ATP8B1 Deficiency. J Pediatr. 2015, 167(6):1334-9.e1. PubMed ID: 26382629

    This article proves that ATP8B1 deficiency may have a connection with hypothyroidism. Patients with ATP8B1 deficiency should concern their thyroid function.

  2. Soundararajan R., et al. Global gene profiling of aging lungs in Atp8b1 mutant mice. Aging (Albany NY). 2016, 8(9):2232-2252. PubMed ID: 27689529

    This article indicates that ATP8B1 mutation may be associated with age-related lung diseases in mice by global transcriptome analysis, which reveals 532 differentially expressed genes in ATP8B1 lungs, 157 differentially expressed genes in C57BL/6 lungs, and 37 overlapping genes.

  3. Naik J., et al. ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function. Dig Dis. 2015, 33(3):314-8. PubMed ID: 26045263

    This article shows that severe Cholestatic liver disease can be caused by the loss of the ATP11C and P4 ATPases ATP8B1. Mutation of ATP8B1 will lead to benign recurrent intrahepatic cholestasis type 1 and progressive familial Intrahepatic Cholestasis type 1.

  4. Haas M.J., et al. Identification of ATP8B1 as a blood-brain barrier-enriched protein. Cell Mol Neurobiol. 2014, 34(4):473-8. PubMed ID: 24643366

    This report suggests that a P-type aminophospholipid translocase ATP8B1 is abundant in cerebral microvessels by identifying the overexpressed proteins in the cerebral microvessels and may play a role in plasma membrane lipid transport.

  5. van der Woerd W.L., Mutational analysis of ATP8B1 in patients with chronic pancreatitis. PLoS One. 2013, 8(11):e80553. PubMed ID: 24260417

    This article finds no association between chronic pancreatitis and heterozygous ATP8B1 variants in their cohort of patients with idiopathic and hereditary chronic pancreatitis.

ATP8B1 Preparation Options

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  1. Jansen P L and Müller M. (2000). The molecular genetics of familial intrahepatic cholestasis. Gut. 47(1),1-5.

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