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ATP8B1 ATPase phospholipid transporting 8B1 [ Homo sapiens (human) ]

Gene ID: 5205, updated on 18-Jun-2019

Summary

Official Symbol
ATP8B1provided by HGNC
Official Full Name
ATPase phospholipid transporting 8B1provided by HGNC
Primary source
HGNC:HGNC:3706
See related
Ensembl:ENSG00000081923 MIM:602397
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRIC; FIC1; ICP1; PFIC; ATPIC; PFIC1
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]
Expression
Broad expression in colon (RPKM 52.5), stomach (RPKM 26.5) and 17 other tissues See more
Orthologs

Genomic context

See ATP8B1 in Genome Data Viewer
Location:
18q21.31
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (57646426..57803822, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55313658..55470327, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ferrochelatase Neighboring gene uncharacterized LOC100505549 Neighboring gene asparaginyl-tRNA synthetase Neighboring gene tRNA-Gly (anticodon TCC) 5-1 Neighboring gene tRNA-Gly (anticodon TCC) 6-1 Neighboring gene uncharacterized LOC105372141 Neighboring gene RNA, U6 small nuclear 742, pseudogene Neighboring gene mitochondrial ribosomal protein S17 pseudogene 7 Neighboring gene Sharpr-MPRA regulatory region 4888 Neighboring gene ribosomal L24 domain containing 1 pseudogene 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cholestasis of pregnancy
MedGen: C3549845 OMIM: 147480 GeneReviews: Not available
Compare labs
Cholestasis, benign recurrent intrahepatic 1
MedGen: C1855731 OMIM: 243300 GeneReviews: ATP8B1 Deficiency
Compare labs
Progressive intrahepatic cholestasis
MedGen: C4551898 OMIM: 211600 GeneReviews: ATP8B1 Deficiency
Compare labs

NHGRI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
NHGRI GWA Catalog
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
NHGRI GWA Catalog
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
aminophospholipid transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
cardiolipin binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bile acid and bile salt transport NAS
Non-traceable Author Statement
more info
PubMed 
bile acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
drug transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phospholipid translocation IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid translocation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of microvillus assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
vestibulocochlear nerve formation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
brush border membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
stereocilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
phospholipid-transporting ATPase IC
Names
ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPase, class I, type 8B, member 1
E1-E2 ATPase
P4-ATPase flippase complex alpha subunit ATP8B1
familial intrahepatic cholestasis type 1
probable phospholipid-transporting ATPase IC
NP_005594.2
XP_006722544.1
XP_011524325.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007148.3 RefSeqGene

    Range
    5508..162397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1205

mRNA and Protein(s)

  1. NM_005603.6NP_005594.2  phospholipid-transporting ATPase IC

    Status: REVIEWED

    Source sequence(s)
    AC022724, AC027097
    Consensus CDS
    CCDS11965.1
    Related
    ENSP00000497896.1, ENST00000648908.1
    Conserved Domains (1) summary
    cd02073
    Location:941051
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    57646426..57803822 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526023.3XP_011524325.1  phospholipid-transporting ATPase IC isoform X2

    Conserved Domains (5) summary
    TIGR01652
    Location:751141
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:133196
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:495590
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:8811135
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:837881
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. XM_006722481.4XP_006722544.1  phospholipid-transporting ATPase IC isoform X1

    See identical proteins and their annotated locations for XP_006722544.1

    UniProtKB/Swiss-Prot
    O43520
    Conserved Domains (1) summary
    cd02073
    Location:941051
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
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