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ATP8B1 Gene

protein-coding   GIFtS: 61
GCID: GC18M055313

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 ATP8B1-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)
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Aliases
ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 11 2     EC 3.6.3.13 8
FIC11 2 3 5     ICP12 5
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 GC18M055290 GC18M055100 GC18M053464 GC18M053466 GC18M052024


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include magnesium ion binding and cation-transporting ATPase activity. An important paralog of this gene is ATP11A.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP8B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC18M055313:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP8B1 (O43520) (see all 20)
     LAIGDGA  TLAIGDG  EGMQAVM  WVLTGDK 


    See ATP8B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005594.1  
    ENSEMBL proteins: 
     ENSP00000283684   ENSP00000468266   ENSP00000467767   ENSP00000468751   ENSP00000445359  
    Reactome Protein details: O43520

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

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

    Selected InterPro protein domains (see all 6):
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp
     IPR001757 Cation_transp_P_typ_ATPase
     IPR018303 ATPase_P-typ_P_site

    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


    Find genes that share domains with ATP8B1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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--
         
    Find genes that share ontologies with ATP8B1           About GenesLikeMe


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

    Find genes that share phenotypes with ATP8B1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP8B1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP8B1
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    SwitchGear 3'UTR luciferase reporter plasmidATP8B1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT8B1_HUMAN, O43520: Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum. Note=Exit from the
    endoplasmic reticulum requires the presence of TMEM30A or TMEM30B
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    cytosol3
    nucleus2
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

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

    Find genes that share ontologies with ATP8B1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP8B1 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    3Ion transport by P-type ATPases
    Ion transport by P-type ATPases


    Find genes that share SuperPaths with ATP8B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ATP8B1
        Ion transport by P-type ATPases


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP8B1: 
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ATP8B1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for ATP8B1 (ENSP000002836844) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TMEM30BENSP000003479304STRING: ENSP00000347930
    MON2ENSP000003772524STRING: ENSP00000377252
    GBF1ENSP000003590004STRING: ENSP00000359000
    NEK11ENSP000003728574STRING: ENSP00000372857
    About this table

    Gene Ontology (GO): Selected biological process terms (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 ----

    Find genes that share ontologies with ATP8B1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP8B1 (AT8B1)

    Selected 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)



    Find genes that share compounds with ATP8B1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
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    hsa-miR-3607-3p hsa-miR-4328 hsa-miR-25 hsa-miR-1260b hsa-miR-30d hsa-miR-10b* hsa-miR-30a hsa-miR-4330
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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 

    Selected AceView cDNA sequences (see all 106):

    AF038007 AI393019 AA594617 AW439587 AI696818 AA622547 CB052296 BX951079 
    AI753727 BG403134 AI625486 AI569287 AW051562 AA234929 AF032442 BC003534 
    NM_005603 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP8B1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
    ATP8B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP8B1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATP8B1: 
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              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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATP8B1 gene from Selected species (see all 15)    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 ATP8B11 ATPase, class I, type 8B, member 1 76.54(n)
    81.42(a)
      426857  NM_001277775.1  NP_001264704.1 
    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 65.62(n)
    69.74(a)
      100148342  XM_001920475.4  XP_001920510.4 
    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 (tat-2) mRNA, complete cd...
    43(a)
    1 → many
    IV(4827854-4846893) WBGene00019166


    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)
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    Paralogs for ATP8B1 gene
    ATP11A2  ATP11B2  ATP8A12  ATP11C2  ATP8B42  ATP8A22  ATP8B22  ATP8B32  
    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

    Find genes that share paralogs with ATP8B1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP8B1 (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
    ----------
    rs563553101,2,,4
    C,FCholestasis of pregnancy, intrahepatic 1 (ICP1)4 --55218903(+) TTTTTT/CCAGAC 2 /K /E mis12Minor allele frequency- C:0.00NA EU 5831
    rs1465999621,2,,4
    C,FCholestasis of pregnancy, intrahepatic 1 (ICP1)4 --55252696(+) CTCGGT/GTTTGT 2 /N /T mis12Minor allele frequency- G:0.00NA EU 5871
    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--------
    rs289396861,2,4
    Cholestasis, progressive familial intrahepatic, 1 (PFIC1)4--see VAR_0088122 mis40--------
    VAR_0430574
    Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)4--see VAR_0430572 D G 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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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

    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602397   
    OMIM disorders: 211600  243300  147480  
    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

  • 10 diseases for ATP8B1:    
    About MalaCards
    cholestasis    intrahepatic cholestasis    cholestasis, progressive familial intrahepatic 1    atp8b1-related intrahepatic cholestasis
    benign recurrent intrahepatic cholestasis    cholestasis, intrahepatic, of pregnancy, 1    low gamma-gt familial intrahepatic cholestasis    atp8b1 deficiency
    splenic artery aneurysm    alagille syndrome

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

    Find genes that share disorders with ATP8B1           About GenesLikeMe

    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)
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    PubMed articles for ATP8B1 gene, integrated from 10 sources (see all 95):
    (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. (Gut 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. (Hepatology 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. (Nat. Genet. 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. (Hepatology 1999)
    5. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (Nat. Genet. 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. (J. Biol. Chem. 2011)
    7. Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. (PubMed id 19890347)1, 4 Birlea S.A....Spritz R.A. (J. Invest. Dermatol. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    9. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. (PubMed id 15239083)1, 2 Klomp L.W.J.... Bull L.N. (Hepatology 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. (Genome Res. 2004)

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

      Query String
    PubMed
    OMIM
    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)
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    Entrez Gene: 5205 HGNC: 3706 AceView: ATP8B1 Ensembl:ENSG00000081923 euGenes: HUgn5205
    ECgene: ATP8B1 H-InvDB: ATP8B1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP8B1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP8B1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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