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

    Gene ID: 5205, updated on 12-Mar-2017
    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; Vega:OTTHUMG00000180255
    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]
    Orthologs
    Location:
    18q21.31
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (57646426..57803828, 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 transfer RNA-Gly (TCC) 5-1 Neighboring gene transfer RNA-Gly (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 ribosomal L24 domain containing 1 pseudogene 11 Neighboring gene uncharacterized LOC105372140

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cholestasis of pregnancy
    MedGen: C0268318 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: C0268312 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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding 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
     
    phospholipid-translocating ATPase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    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 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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    stereocilium IEA
    Inferred from Electronic Annotation
    more info
     
    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_005594.1

    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_007148.2 RefSeqGene

      Range
      5001..161670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005603.4NP_005594.1  phospholipid-transporting ATPase IC

      See identical proteins and their annotated locations for NP_005594.1

      Status: REVIEWED

      Source sequence(s)
      AA234929, AC027097, AF038007, AI625486, AI914078, BC003534, BG403134, BM796053, CB052296, CV572801, DR005588
      Consensus CDS
      CCDS11965.1
      UniProtKB/Swiss-Prot
      O43520
      Conserved Domains (6) summary
      TIGR01652
      Location:921179
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:171234
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:533628
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:86142
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:9191173
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:875919
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      57646426..57803828 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526023.2XP_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_006722481.3XP_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 (6) summary
      TIGR01652
      Location:921179
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:171234
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:533628
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:86142
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:9191173
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:875919
      HAD_like; Haloacid Dehalogenase-like Hydrolases
    3. XM_011526022.2XP_011524324.1  phospholipid-transporting ATPase IC isoform X1

      See identical proteins and their annotated locations for XP_011524324.1

      UniProtKB/Swiss-Prot
      O43520
      Related
      ENSP00000283684, OTTHUMP00000163615, ENST00000283684, OTTHUMT00000256097
      Conserved Domains (6) summary
      TIGR01652
      Location:921179
      ATPase-Plipid; phospholipid-translocating P-type ATPase, flippase
      pfam00122
      Location:171234
      E1-E2_ATPase; E1-E2 ATPase
      pfam13246
      Location:533628
      Cation_ATPase; Cation transport ATPase (P-type)
      pfam16209
      Location:86142
      PhoLip_ATPase_N; Phospholipid-translocating ATPase N-terminal
      pfam16212
      Location:9191173
      PhoLip_ATPase_C; Phospholipid-translocating P-type ATPase C-terminal
      cl21460
      Location:875919
      HAD_like; Haloacid Dehalogenase-like Hydrolases

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      55309031..55466164 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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