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ATP8B1

GENERAL INFORMATION

Gene name

 ATP8B1

Gene description

 ATPase, aminophospholipid transporter, class I, type 8B, member 1

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

 Intracellular,Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Mixed
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA018673 , HPA018674
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Breast

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 ATP8B1 (HGNC Symbol)

Synonyms

 ATPIC, BRIC, FIC1, PFIC, PFIC1

Description

 ATPase, aminophospholipid transporter, class I, type 8B, member 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. 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. [provided by RefSeq, Jul 2008]

Chromosome

 18

Cytoband

 q21.31

Chromosome location (bp)

 57646426 - 57803101

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000081923 (version 83.38)

Entrez gene

 5205

UniProt

 O43520 (UniProt - Evidence at protein level)

neXtProt

 NX_O43520

Antibodypedia

 ATP8B1 antibodies

PROTEIN BROWSER
ATP8B1-001
ATP8B1-003
ATP8B1-006
ATP8B1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ATP8B1-001
ENSP00000283684
ENST00000283684
O43520 [Direct mapping]
Phospholipid-transporting ATPase IC
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Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000287 [magnesium ion binding]
GO:0004012 [phospholipid-translocating ATPase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006855 [drug transmembrane transport]
GO:0007030 [Golgi organization]
GO:0015721 [bile acid and bile salt transport]
GO:0015914 [phospholipid transport]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0032420 [stereocilium]
GO:0032534 [regulation of microvillus assembly]
GO:0034220 [ion transmembrane transport]
GO:0045332 [phospholipid translocation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046872 [metal ion binding]
GO:0055085 [transmembrane transport]
Show all
 1251 aa
143.7 kDa 		No >9
ATP8B1-003
ENSP00000468266
ENST00000588255
K7ERI0 [Direct mapping]
Phospholipid-transporting ATPase IC
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000287 [magnesium ion binding]
GO:0004012 [phospholipid-translocating ATPase activity]
GO:0005524 [ATP binding]
GO:0007030 [Golgi organization]
GO:0016021 [integral component of membrane]
GO:0045332 [phospholipid translocation]
Show all
 92 aa
10.8 kDa 		No 0
ATP8B1-006
ENSP00000468751
ENST00000585322
K7ESK2 [Direct mapping]
Phospholipid-transporting ATPase IC
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0007030 [Golgi organization]
Show all
 11 aa
1.3 kDa 		No 0
ATP8B1-201
ENSP00000445359
ENST00000536015
O43520 [Direct mapping]
Phospholipid-transporting ATPase IC
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166 [nucleotide binding]
GO:0000287 [magnesium ion binding]
GO:0004012 [phospholipid-translocating ATPase activity]
GO:0005319 [lipid transporter activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005783 [endoplasmic reticulum]
GO:0005794 [Golgi apparatus]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006855 [drug transmembrane transport]
GO:0007030 [Golgi organization]
GO:0007605 [sensory perception of sound]
GO:0008206 [bile acid metabolic process]
GO:0015721 [bile acid and bile salt transport]
GO:0015914 [phospholipid transport]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016324 [apical plasma membrane]
GO:0021650 [vestibulocochlear nerve formation]
GO:0031526 [brush border membrane]
GO:0032420 [stereocilium]
GO:0032534 [regulation of microvillus assembly]
GO:0034220 [ion transmembrane transport]
GO:0045332 [phospholipid translocation]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0046872 [metal ion binding]
GO:0055085 [transmembrane transport]
GO:0060119 [inner ear receptor cell development]
GO:1901612 [cardiolipin binding]
Show all
 1251 aa
143.7 kDa 		No >9

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.