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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP8B1 Gene

protein-coding   GIFtS: 60
GCID: GC18M055290

ATPase, Aminophospholipid Transporter, Class I, Type 8B,...

(Previous names: ATPase, Class I, type 8B, member 1, ATPase, class I, type...)
(Previous symbols: FIC1, BRIC, PFIC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 11 2     EC 3.6.3.13 8
FIC11 2 3 5     ICP12
BRIC1 2 5     E1-E2 ATPase2
PFIC11 2 5     Phospholipid-Transporting ATPase IC2
ATPase, Class I, Type 8B, Member 11 2     Probable Phospholipid-Transporting ATPase IC2
Familial Intrahepatic Cholestasis Type 12 3     ATPase Class I Type 8B Member 13
ATPIC2 3     EC 3.6.38
PFIC2 3     

External Ids:    HGNC: 37061   Entrez Gene: 52052   Ensembl: ENSG000000819237   OMIM: 6023975   UniProtKB: O435203   

Export aliases for ATP8B1 gene to outside databases

Previous GC identifers: GC18P055466 GC18M055100 GC18M053464 GC18M053466 GC18M052024


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP8B1 Gene:
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)

GeneCards Summary for ATP8B1 Gene: 
ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1) is a protein-coding gene. Diseases associated with ATP8B1 include cholestasis, and intrahepatic cholestasis, and among its related super-pathways are Ion channel transport and SLC-mediated transmembrane transport. GO annotations related to this gene include magnesium ion binding and ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism. An important paralog of this gene is ATP10B.

UniProtKB/Swiss-Prot: AT8B1_HUMAN, O43520
Function: May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various
membranes and the maintenance of asymmetric distribution of phospholipids in the canicular membrane. May have a
role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into
intestinal mucosa or both

Gene Wiki entry for ATP8B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP8B1 gene promoter:
         GR   Nkx2-2   GR-beta   Lmo2   Evi-1   IRF-2   GATA-6   Cart-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP8B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP8B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP8B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q21.31   Ensembl cytogenetic band:  18q21.31   HGNC cytogenetic band: 18q21

ATP8B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP8B1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M055290:  view genomic region     (about GC identifiers)

Start:
55,313,658 bp from pter      End:
55,470,333 bp from pter
Size:
156,676 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT8B1_HUMAN, O43520 (See protein sequence)
Recommended Name: Probable phospholipid-transporting ATPase IC  
Size: 1251 amino acids; 143695 Da
Subunit: Interacts with TMEM30A and TMEM30B
Subcellular location: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Note=Exit from the
endoplasmic reticulum requires the presence of TMEM30A or TMEM30B
Secondary accessions: Q9BTP8

Explore the universe of human proteins at neXtProt for ATP8B1: NX_O43520

Explore proteomics data for ATP8B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O43520

  • 4/20 DME Specific Peptides for ATP8B1 (O43520) (see all 20)
     LAIGDGA  TLAIGDG  EGMQAVM  WVLTGDK 

    ATP8B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP8B1 Protein Expression
    REFSEQ proteins: NP_005594.1  
    ENSEMBL proteins: 
     ENSP00000283684   ENSP00000468266   ENSP00000467767   ENSP00000468751   ENSP00000445359  
    Reactome Protein details: O43520
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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane NAS12880872
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    ATP8B1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: ATP8B1 
    Phospholipid-transporting ATPase

    5/6 InterPro protein domains (see all 6):
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase

    Graphical View of Domain Structure for InterPro Entry O43520

    ProtoNet protein and cluster: O43520

    1 Blocks protein domain: IPB001757 ATPase

    UniProtKB/Swiss-Prot: AT8B1_HUMAN, O43520
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily


    ATP8B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT8B1_HUMAN, O43520
    Function: May play a role in the transport of aminophospholipids from the outer to the inner leaflet of various
    membranes and the maintenance of asymmetric distribution of phospholipids in the canicular membrane. May have a
    role in transport of bile acids into the canaliculus, uptake of bile acids from intestinal contents into
    intestinal mucosa or both
    Catalytic activity: ATP + H(2)O + phospholipid(side 1) = ADP + phosphate + phospholipid(side 2)

         Enzyme Numbers (IUBMB): EC 3.6.3.11 2 EC 3.6.32

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity TAS12880872
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    ATP8B1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp8b1):
     growth/size  hearing/vestibular/ear  homeostasis/metabolism  liver/biliary system  nervous system 

    ATP8B1 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP8B1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ATP8B1
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases



    ATP8B1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP8B1

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process RCA12880872
    GO:0006812cation transport ----
    GO:0008206bile acid metabolic process IEA--
    GO:0015721bile acid and bile salt transport NAS12880872
    GO:0015914phospholipid transport ----

    ATP8B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP8B1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ATP8B1 (AT8B1)

    10/2605 HMDB Compounds for ATP8B1 (see all 2605)    About this table
    CompoundSynonyms CAS #PubMed Ids
    PC(O-16:0/18:2(9Z,12Z))1-hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine (see all 5)88542-95-412486725
    PE(O-16:1(1Z)/22:6(4Z,7Z,10Z,13Z,16Z,19Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 15)--12486725
    PE(O-18:1(1Z)/20:4(5Z,8Z,11Z,14Z))1-alkenyl-2-acyl-glycerophosphoethanolamine (see all 19)103597-60-012486725
    PE(P-16:0e/0:0)2-azaniumylethyl [(2R)-3-[(E)-hexadec-1-enoxy]-2-hydroxy-propyl] phosphate;1-(1Z-hexadecenyl)-sn-glycero-3-phosphoethanolamine ;LysoPE(dm16:0e) --12486725
    PE(P-16:0e/18:1(9Z))2-(9Z-octadecanoyl)-1-hexadecyl-sn-glycero-3-phosphoethanolamine --12486725
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    PA(16:0/16:0)Dipalmitoylphosphatidic acid (see all 25)7091-44-3--
    PA(16:0/18:1(11Z))PA(16:0/18:1n7) (see all 10)----
    PA(16:0/18:1(9Z))PA(16:0/18:1n9) (see all 10)----

    3 Novoseek inferred chemical compound relationships for ATP8B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    taurocholate 60.9 7 15209631 (4), 16637898 (2)
    cholesterol 17.9 1 20422494 (1)
    lipid 0 1 16137474 (1), 20422494 (1), 17948906 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP8B1 / AT8B1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP8B1 gene: 
    NM_005603.4  

    Unigene Cluster for ATP8B1:

    ATPase, aminophospholipid transporter, class I, type 8B, member 1
    Hs.216623  [show with all ESTs]
    Unigene Representative Sequence: NM_005603
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000283684 ENST00000588255 ENST00000589147 ENST00000591728 ENST00000585322
    ENST00000536015(uc002lgw.3)
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    Additional mRNA sequence: 

    AF032442.1 AF038007.1 BC003534.1 

    10 DOTS entries:

    DT.310922  DT.91754574  DT.91654874  DT.211832  DT.91930766  DT.70102882  DT.121097007  DT.95343506 
    DT.100744034  DT.70104433 

    24/106 AceView cDNA sequences (see all 106):

    AF038007 AI393019 AA594617 AW439587 AI696818 AA622547 CB052296 BX951079 
    NM_005603 AI753727 BG403134 AI625486 AI569287 AW051562 AA234929 AF032442 
    BC003534 AW130733 BX481774 BG289801 BG261037 AW080059 AI469802 AW207160 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP8B1 expression in normal human tissues (normalized intensities)      ATP8B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATP8B1 Expression
    About this image


    ATP8B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Heart (Cardiovascular System)
             Mature Cardiac Fibroblasts Myocardium
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus

    See ATP8B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP8B1

    SOURCE GeneReport for Unigene cluster: Hs.216623

    UniProtKB/Swiss-Prot: AT8B1_HUMAN, O43520
    Tissue specificity: Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small
    intestine

        SABiosciences Expression via Pathway-Focused PCR Arrays including ATP8B1: 
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP8B1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATP8B1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp8b11 , 5 ATPase, class I, type 8B, member 11, 5 87.08(n)1
    94.56(a)1
      18 (37.49 cM)5
    546701  NM_001001488.31  NP_001001488.21 
     645289795 
    chicken
    (Gallus gallus)
    Aves ATP8B16
    ATPase, aminophospholipid transporter, class I, ty...
    81(a)
    1 ↔ 1
    Z(334046-366833)
    lizard
    (Anolis carolinensis)
    Reptilia ATP8B16
    ATPase, aminophospholipid transporter, class I, ty...
    81(a)
    1 ↔ 1
    GL343213.1(2215121-2298749)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.303562 Xenopus laevis transcribed sequence with weak similarity more 75.87(n)    CA787961.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp8b11 ATPase, aminophospholipid transporter, class I, type more 66.01(n)
    70.4(a)
      100148342  XM_001920475.3  XP_001920510.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG147413 P-type ATPase 55(a)
    (best of 2)
      87A7   --
    worm
    (Caenorhabditis elegans)
    Secernentea tat-26
    Protein TAT-2, isoform a
    44(a)
    1 → many
    IV(4827872-4841127)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DNF21 Dnf2p 49.97(n)
    40.77(a)
      851667   NP_010378.1 


    ENSEMBL Gene Tree for ATP8B1 (if available)
    TreeFam Gene Tree for ATP8B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP8B1 gene
    ATP10B2  ATP10D2  ATP10A2  
    13 SIMAP similar genes for ATP8B1 using alignment to 4 protein entries:     AT8B1_HUMAN (see all proteins):
    ATP8B4    DKFZp779H1459    ATP8B2    ATP8B3    ATP8A1    ATP8A2
    ATP10A    DKFZp686H2093    ATP11C    DKFZp434P0831    ATP11A    ATP11B
    ATP10D

    ATP8B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3907 SNPs in ATP8B1 are shown (see all 3907)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0430684
    Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)4--see VAR_0430682 I T mis40--------
    VAR_0154234
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0154232 D N mis40--------
    VAR_0430594
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0430592 Y H mis40--------
    VAR_0088124
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0088122 I T mis40--------
    VAR_0430574
    Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)4--see VAR_0430572 D G mis40--------
    VAR_0088104
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0088102 G V mis40--------
    VAR_0430634
    Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)4--see VAR_0430632 R Q mis40--------
    VAR_0430694
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0430692 G R mis40--------
    VAR_0088094
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0088092 L S mis40--------
    VAR_0430654
    Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)4--see VAR_0430652 R W mis40--------

    HapMap Linkage Disequilibrium report for ATP8B1 (55313658 - 55470333 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for ATP8B1 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1788273CNV Deletion17803354
    esv2717153CNV Deletion23290073
    esv2717150CNV Deletion23290073
    esv2717152CNV Deletion23290073
    esv1050363CNV Deletion17803354
    nsv2319CNV Insertion18451855
    esv1135051CNV Insertion17803354
    nsv2320CNV Insertion18451855
    nsv909664CNV Loss21882294
    nsv458087CNV Loss19166990


    Human Gene Mutation Database (HGMD): ATP8B1

    Locus Specific Mutation Databases (LSDB): ATP8B1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP8B1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP8B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602397   
    OMIM disorders: 211600  243300  
    UniProtKB/Swiss-Prot: AT8B1_HUMAN, O43520
  • Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600]: A disorder characterized by early
    onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before
    adulthood. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300]: A disorder characterized by
    intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum
    bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to
    months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both
    clinically and biochemically. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]: A liver disorder of pregnancy. It presents
    during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more
    severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the
    liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine
    death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. Note=The
    disease may be caused by mutations affecting the gene represented in this entry

  • 20 diseases for ATP8B1:    About MalaCards
    cholestasis    intrahepatic cholestasis    benign recurrent intrahepatic cholestasis    cholestasis, progressive familial intrahepatic 1
    atp8b1-related intrahepatic cholestasis    intrahepatic cholestasis of pregnancy    low gamma-gt familial intrahepatic cholestasis    splenic artery aneurysm
    alagille syndrome    biliary atresia    vitiligo    jaundice
    diarrhea    metabolic disorders    liver disease    choriocarcinoma
    pneumonia    gastric cancer    pancreatitis    hepatitis

    4 diseases from the University of Copenhagen DISEASES database for ATP8B1:
    Cholestasis     Liver disease     Splenic artery aneurysm     Alagille syndrome

    ATP8B1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for ATP8B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    byler disease 98 41 16628629 (6), 19381753 (3), 19027009 (2), 20414253 (2) (see all 15)
    cholestasis, benign recurrent intrahepatic 96.4 11 20126555 (1), 20422494 (1), 11093741 (1), 15209631 (1) (see all 8)
    pfic3 96.4 4 19753442 (1), 20414253 (1), 17241866 (1)
    pfic2 95.7 8 20414253 (2), 16628629 (1), 19133130 (1), 17241866 (1) (see all 5)
    cholestasis intrahepatic 95.7 44 10975791 (3), 20038848 (3), 11093741 (2), 11815775 (2) (see all 21)
    cholestasis 86.5 27 11093741 (3), 19027009 (2), 20422494 (2), 10975791 (2) (see all 13)
    liver diseases 63.3 5 12880872 (2), 20126555 (1), 11745041 (1), 9806540 (1)
    alagille syndrome 58.4 2 17241866 (1)
    biliary atresia 42 2 16628629 (1), 15922475 (1)

    GeneTests: ATP8B1
    GeneReviews: ATP8B1
    Genetic Association Database (GAD): ATP8B1
    Human Genome Epidemiology (HuGE) Navigator: ATP8B1 (1 document)

    Export disorders for ATP8B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP8B1 gene, integrated from 9 sources (see all 93):
    (articles sorted by number of sources associating them with ATP8B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. (PubMed id 15888793)1, 2, 4, 9 Muellenbach R.... Williamson C. (2005)
    2. A missense mutation in FIC1 is associated with Greenland familial cholestasis. (PubMed id 11093741)1, 2, 4, 9 Klomp L.W.J....Houwen R.H.J. (2000)
    3. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. (PubMed id 9500542)1, 2, 3, 9 Bull L.N.... Freimer N.B. (1998)
    4. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. (PubMed id 9918928)1, 2, 9 Tygstrup N.... Houwen R.H.J. (1999)
    5. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (2011)
    6. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PubMed id 21914794)1, 2 Takatsu H.... Shin H.W. (2011)
    7. Genome-Wide Association Study of Generalized Vitiligo in an Isolated European Founder Population Identifies SMOC2, in Close Proximit y to IDDM8. (PubMed id 19890347)1, 4 Birlea S.A....Spritz R.A. (2010)
    8. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PubMed id 18951430)1, 4 Anney R.J....Gill M. (2008)
    9. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. (PubMed id 15239083)1, 2 Klomp L.W....Bull L.N. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5205 HGNC: 3706 AceView: ATP8B1 Ensembl:ENSG00000081923 euGenes: HUgn5205
    ECgene: ATP8B1 H-InvDB: ATP8B1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP8B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP8B1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP8B1 gene:
    Search GeneIP for patents involving ATP8B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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