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

Gene ID: 5205, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:3706
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
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Genomic context

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See ATP8B1 in Genome Data Viewer
Location:
18q21.31
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (57646426..57803315, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (57847030..58003571, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55313658..55470547, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13370 Neighboring gene MPRA-validated peak3163 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:55230082-55230255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13373 Neighboring gene ferrochelatase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9479 Neighboring gene Sharpr-MPRA regulatory region 4588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55288917-55289621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55297311-55297811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55300102-55300950 Neighboring gene asparaginyl-tRNA synthetase 1 Neighboring gene ATP8B1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55310728-55311239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55311240-55311750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13377 Neighboring gene tRNA-Gly (anticodon TCC) 5-1 Neighboring gene tRNA-Gly (anticodon TCC) 6-1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:55360919-55362118 Neighboring gene MPRA-validated peak3164 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55366253-55366936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55380387-55380889 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55386192-55386760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55386761-55387329 Neighboring gene uncharacterized LOC105372141 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55404555-55405056 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55405057-55405556 Neighboring gene RNA, U6 small nuclear 742, pseudogene Neighboring gene uncharacterized LOC124904310 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:55443057-55444256 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 7 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55470167-55470804 Neighboring gene Sharpr-MPRA regulatory region 4888 Neighboring gene MPRA-validated peak3165 silencer Neighboring gene Sharpr-MPRA regulatory region 13131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13380 Neighboring gene ribosomal L24 domain containing 1 pseudogene 11 Neighboring gene NANOG hESC enhancer GRCh37_chr18:55523486-55524043 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55561711-55562212 Neighboring gene uncharacterized LOC105372140 Neighboring gene MPRA-validated peak3167 silencer

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Clayton RJ, et al. Am J Dis Child, 1969 Jan. PMID 5762004
  2. Mutational analysis of ATP8B1 in patients with chronic pancreatitis. van der Woerd WL, et al. PLoS One, 2013. PMID 24260417, Free PMC Article
  3. Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis. Deng BC, et al. World J Gastroenterol, 2012 Nov 28. PMID 23197899, Free PMC Article
  4. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1. Copeland E, et al. J Gastroenterol Hepatol, 2013 Mar. PMID 23033845
  5. Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA. van der Woerd WL, et al. Hepatology, 2015 Apr. PMID 25421123

See all (90) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation and substrate specificity of the human P4-ATPase ATP8B1.
    Title: Activation and substrate specificity of the human P4-ATPase ATP8B1.
  2. ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.
    Title: ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.
  3. ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells.
    Title: ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells.
  4. Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
    Title: Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
  5. Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
    Title: Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
  6. Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.
    Title: Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.
  7. Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
    Title: Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
  8. Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.
    Title: Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.
  9. Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
    Title: Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
  10. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
    Title: Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
Submit: New GeneRIF Correction See all GeneRIFs (55)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATPase-coupled intramembrane lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATPase-coupled intramembrane lipid transporter activity TAS
Traceable Author Statement
more info
 PubMed 
enables cardiolipin binding IEA
Inferred from Electronic Annotation
more info
  
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylcholine flippase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylcholine floppase activity IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylserine flippase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables phosphatidylserine floppase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in aminophospholipid translocation IEA
Inferred from Electronic Annotation
more info
  
involved_in apical protein localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in bile acid and bile salt transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in bile acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear receptor cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in negative regulation of DNA-templated transcription IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phospholipid translocation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phospholipid translocation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipid translocation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of chloride transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of microvillus assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of plasma membrane organization IEA
Inferred from Electronic Annotation
more info
  
involved_in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
  
involved_in vestibulocochlear nerve formation IEA
Inferred from Electronic Annotation
more info
  
involved_in xenobiotic transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
part_of phospholipid-translocating ATPase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of phospholipid-translocating ATPase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in stereocilium IEA
Inferred from Electronic Annotation
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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_001361314.1
NP_001361315.1
NP_005594.2
XP_011524325.1
XP_047293497.1
XP_047293498.1
XP_047293499.1
XP_047293500.1
XP_047293501.1
XP_047293502.1
XP_047293503.1
XP_047293504.1
XP_054174653.1
XP_054174654.1
XP_054174655.1
XP_054174656.1
XP_054174657.1
XP_054174658.1
XP_054174659.1
XP_054174660.1
XP_054174661.1

NCBI Reference Sequences (RefSeq)

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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_001374385.1 → NP_001361314.1  phospholipid-transporting ATPase IC isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC022724, AC027097
    Consensus CDS
    CCDS11965.1
    UniProtKB/Swiss-Prot
    O43520, Q9BTP8
    Related
    ENSP00000497896.1, ENST00000648908.2
    Conserved Domains (1) summary
    cd02073
    Location:94 → 1051
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

  2. NM_001374386.1 → NP_001361315.1  phospholipid-transporting ATPase IC isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC022724, AC027097
    Conserved Domains (1) summary
    cd02073
    Location:44 → 1001
    P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C

  3. NM_005603.6 → NP_005594.2  phospholipid-transporting ATPase IC isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC022724, AC027097
    Consensus CDS
    CCDS11965.1
    UniProtKB/Swiss-Prot
    O43520, Q9BTP8
    Conserved Domains (1) summary
    cd02073
    Location:94 → 1051
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    57646426..57803315 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437547.1 → XP_047293503.1  phospholipid-transporting ATPase IC isoform X2

  2. XM_011526023.4 → XP_011524325.1  phospholipid-transporting ATPase IC isoform X2

    Conserved Domains (5) summary
    TIGR01652
    Location:75 → 1141
    ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
    pfam00122
    Location:133 → 196
    E1-E2_ATPase; E1-E2 ATPase
    pfam13246
    Location:495 → 590
    Cation_ATPase; Cation transport ATPase (P-type)
    pfam16212
    Location:881 → 1135
    PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
    cl21460
    Location:837 → 881
    HAD_like; Haloacid Dehalogenase-like Hydrolases

  3. XM_047437543.1 → XP_047293499.1  phospholipid-transporting ATPase IC isoform X1

    UniProtKB/Swiss-Prot
    O43520, Q9BTP8

  4. XM_047437542.1 → XP_047293498.1  phospholipid-transporting ATPase IC isoform X1

    UniProtKB/Swiss-Prot
    O43520, Q9BTP8

  5. XM_047437545.1 → XP_047293501.1  phospholipid-transporting ATPase IC isoform X1

    UniProtKB/Swiss-Prot
    O43520, Q9BTP8

  6. XM_047437548.1 → XP_047293504.1  phospholipid-transporting ATPase IC isoform X2

  7. XM_047437541.1 → XP_047293497.1  phospholipid-transporting ATPase IC isoform X1

    UniProtKB/Swiss-Prot
    O43520, Q9BTP8

  8. XM_047437544.1 → XP_047293500.1  phospholipid-transporting ATPase IC isoform X1

    UniProtKB/Swiss-Prot
    O43520, Q9BTP8

  9. XM_047437546.1 → XP_047293502.1  phospholipid-transporting ATPase IC isoform X1

    UniProtKB/Swiss-Prot
    O43520, Q9BTP8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    57847030..58003571 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318685.1 → XP_054174660.1  phospholipid-transporting ATPase IC isoform X2

  2. XM_054318684.1 → XP_054174659.1  phospholipid-transporting ATPase IC isoform X2

  3. XM_054318680.1 → XP_054174655.1  phospholipid-transporting ATPase IC isoform X1

  4. XM_054318679.1 → XP_054174654.1  phospholipid-transporting ATPase IC isoform X1

  5. XM_054318682.1 → XP_054174657.1  phospholipid-transporting ATPase IC isoform X1

  6. XM_054318686.1 → XP_054174661.1  phospholipid-transporting ATPase IC isoform X2

  7. XM_054318678.1 → XP_054174653.1  phospholipid-transporting ATPase IC isoform X1

  8. XM_054318681.1 → XP_054174656.1  phospholipid-transporting ATPase IC isoform X1

  9. XM_054318683.1 → XP_054174658.1  phospholipid-transporting ATPase IC isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43520.3 GenPept UniProtKB/Swiss-Prot:O43520

Gene LinkOut

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