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

    Gene ID: 5205, updated on 8-Jul-2021

    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
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    Genomic context

    See ATP8B1 in Genome Data Viewer
    Location:
    18q21.31
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (57646426..57803822, complement)
    105.20201022 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 ferrochelatase Neighboring gene asparaginyl-tRNA synthetase 1 Neighboring gene uncharacterized LOC100505549 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 Functions

    What'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: C4551899 OMIM: 243300 GeneReviews: ATP8B1 Deficiency
    Compare labs
    Cholestasis, progressive familial intrahepatic 1
    MedGen: C4551898 OMIM: 211600 GeneReviews: ATP8B1 Deficiency
    Compare labs
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    GeneReviews: Not available
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    GeneReviews: Not available
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    GeneReviews: Not available
    Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 phosphatidylserine flippase activity ISS
    Inferred from Sequence or Structural Similarity
    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
    PubMed 
    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 drug transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in inner ear receptor cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid translocation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
     
    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 brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane NAS
    Non-traceable Author Statement
    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 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    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
    PubMed 

    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_001361314.1
    NP_001361315.1
    NP_005594.2
    XP_011524325.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

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

      Status: REVIEWED

      Source sequence(s)
      AC022724, AC027097
      Related
      ENSP00000497896.1, ENST00000648908.2
      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
    2. NM_001374386.1NP_001361315.1  phospholipid-transporting ATPase IC isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC022724, AC027097
      Conserved Domains (1) summary
      cd02073
      Location:441001
      P-type_ATPase_APLT_Dnf-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Dnf1-3p, Drs2p, and human ATP8A2, -10D, -11B, -11C
    3. NM_005603.6NP_005594.2  phospholipid-transporting ATPase IC isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC022724, AC027097
      Consensus CDS
      CCDS11965.1
      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 Updated Annotation Release 109.20210514

    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
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