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

ATP8B1 Gene

protein-coding   GIFtS: 59
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)
 Explore 21 diseases affiliated with
ATP8B1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP8B1    

Aliases
for ATP8B1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
ATPIC1 2 3     E1-E2 ATPase2
PFIC1 2 3     Phospholipid-Transporting ATPase IC2
BRIC1 2 5     Probable Phospholipid-Transporting ATPase IC2
PFIC11 2 5     ATPase Class I Type 8B Member 13
ATPase, Class I, Type 8B, Member 11 2     EC 3.6.38
Familial Intrahepatic Cholestasis Type 12 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


Summaries
for ATP8B1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  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 plasmid: ATP8B1 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

Proteins
for ATP8B1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    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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    Uscn Proteins for ATP8B1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane NAS12880872
    GO:0016324apical plasma membrane IDA11682026

    ATP8B1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ATP8B1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP8B1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR023306 ATPase_cation_domN
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR006539 ATPase_P-typ_Plipid-transp

    Graphical View of Domain Structure for InterPro Entry O43520

    ProtoNet protein and cluster: O43520

    1 Blocks protein family: 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


    Function
    for ATP8B1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IEA--
    GO:0004012phospholipid-translocating ATPase activity TAS12880872
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0015662ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism 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:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ATP8B1 

    miRNA
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    8/48 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP8B1 (see all 48):
    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
    SwitchGear 3'UTR luciferase reporter plasmid: ATP8B1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for ATP8B1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    		Ion channel transport1.00
    		Ion transport by P-type ATPases0.32
    2SLC-mediated transmembrane transport
    		Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006200ATP catabolic process RCA9500542
    GO:0006812cation transport IEA--
    GO:0008206bile acid metabolic process IEA--
    GO:0015721bile acid and bile salt transport NAS12880872
    GO:0034220ion transmembrane transport TAS--

    ATP8B1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP8B1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for ATP8B1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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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    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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    Inhib. RNA
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    Additional cDNA 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):

    AA234929 NM_005603 BC003534 AF032442 AW051562 AI569287 AI625486 BG403134 
    AI753727 BX951079 AA622547 CB052296 AA594617 AI696818 AW439587 AI393019 
    AF038007 AK128536 AI914078 AI798490 BG617650 AI401099 AI368471 BF940006 

    GeneLoc Exon Structure


    Expression
    for ATP8B1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    ATP8B1 Expression
    About this image

    ATP8B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumMature Cardiac FibroblastsEpicardium
    KidneyPodocyte LayerPodocytesKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
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    In Situ
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    Orthologs
    for ATP8B1 gene

    (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 eukaryotes.

    Orthologs for ATP8B1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ATP8B16
    		 Uncharacterized protein
    		 77(a)
    		 1 ↔ 1
    		 Z(225933-251456)
    lizard
    (Anolis carolinensis)    		 Reptilia ATP8B16
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343213.1(2217390-2256052)
    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 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes DNF21 Dnf2p 49.97(n)
    40.77(a)    		   851667   NP_010378.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    		 phospholipid-transporting ATPase 2, putative, expr...
    		 27(a)
    		 possible ortholog
    		 9(1611177-1614358)


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

    Paralogs
    for ATP8B1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP8B1 gene
    ATP11A2  ATP11B2  ATP8A12  ATP11C2  ATP8B42  ATP8A22  ATP8B22  ATP8B32  
    14 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
    ATP9B    ATP10D

    ATP8B1 for paralogs           About GeneDecksing



    Genomic Variants
    for ATP8B1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3209 NCBI SNPs in ATP8B1 are shown (see all 3209)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219091001,2
    		C,Fpathogenic55336665(-) GGAAAT/CTGAAG 3 /T /I mis1 int11Minor allele frequency- C:0.00NA 4540
    rs347190061,2
    		C,Fpathogenic55373793(-) CAAACG/AATCGC 2 /N /D mis14Minor allele frequency- A:0.00NA EU 6003
    rs1906907261,2
    		--55313184(+) TTCTTC/TTAGAG 2 -- int1 ds50010--------
    rs1828636181,2
    		--55313329(+) ACTGAA/GATGTT 2 -- ds5001 int10--------
    rs3787771,2
    		C,F,A--55313355(+) AGAGTC/TTTGCT 2 -- ds5001 int18Minor allele frequency- T:0.42WA NA CSA EA 370
    rs72410541,2
    		C,F,A,H--55313483(+) ATCACC/TTTTTC 2 -- ds5001 int121Minor allele frequency- T:0.44NS EA NA WA CSA 1352
    rs72412131,2
    		H--55313577(+) CCCTAC/TATTCC 2 -- ds5001 int14Minor allele frequency- T:0.00NS EA 420
    rs739593061,2
    		C--55313614(+) TTCTGT/CCACAT 2 -- int1 ds50012Minor allele frequency- C:0.11WA 120
    rs734369931,2
    		C--55313622(+) CATACG/CCTATT 2 -- int1 ds50011Minor allele frequency- C:0.50WA 2
    rs1433139971,2
    		C--55313637(+) AAAAT-/AACAACAA 2 -- ds5001 int10--------

    HapMap Linkage Disequilibrium report for ATP8B1 (55313658 - 55470333 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ATP8B1
         1 CNV: 8858
         1 Indel: 26072
    Human Gene Mutation Database (HGMD): ATP8B1

    Locus Specific Mutation Databases (LSDB): ATP8B1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATP8B1
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP8B1

    Disorders / Diseases
    for ATP8B1 gene

    (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.)
    About This Section
    ATP8B1 for disorders           About GeneDecksing

    OMIM gene information: 602397   
    OMIM disorders: 211600  243300  
    UniProtKB/Swiss-Prot: AT8B1_HUMAN, O43520
  • Defects in ATP8B1 are the cause of progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600];
    • also known as Byler disease. PFIC1 is an autosomal recessive disorder, characterized by early infancy cholestasis,
    that may be initially episodic but progresses to malnutrition, growth retardation and end-stage liver disease before
    adulthood
  • Defects in ATP8B1 are the cause of benign recurrent intrahepatic cholestasis type 1 (BRIC1) [MIM:243300]; also
    • known as Summerskill syndrome. BRIC is 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
  • Defects in ATP8B1 may be the cause of cholestasis of pregnancy, intrahepatic 1 (ICP1) [MIM:147480]. A
    • multifactorial liver disorder of pregnancy. It presents during the second or, more commonly, the third trimestre 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

    20/21 diseases for ATP8B1 (see all 21):    About MalaCards
    intrahepatic cholestasis    benign recurrent intrahepatic cholestasis    cholestasis    low gamma-gt familial intrahepatic cholestasis
    cholestasis, progressive familial intrahepatic 1    splenic artery aneurysm    biliary atresia    intrahepatic cholestasis of pregnancy
    alagille syndrome    conduct disorder    metabolic disorders    liver disease
    jaundice    vitiligo    adhd    diarrhea
    choriocarcinoma    pneumonia    cholesterol    pancreatitis

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

    9 Novoseek 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
    Low Gamma-GT Familial Intrahepatic Cholestasis

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

    Export disorders for ATP8B1 gene to outside databases

    Publications
    for ATP8B1 gene

    (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 90):
    (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. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. (PubMed id 15239083)1, 2 Klomp L.W....Bull L.N. (2004)
    6. 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)
    7. Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs. (PubMed id 9548971)1, 2 Halleck M.S....Schlegel R.A. (1998)
    8. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. (PubMed id 7655458)1, 3 Carlton V.E....Freimer N.B. (1995)
    9. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. (PubMed id 16628629)1, 9 Demeilliers C....Lomri N.E. (2006)
    10. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. (PubMed id 17948906)1, 9 Paulusma C.C....Oude Elferink R.P. (2008)

    External Searches for ATP8B1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing ATP8B1 gene

    (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

    Other Databases showing ATP8B1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP8B1 gene

    (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

    Intellectual Property
    for ATP8B1 gene

    (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

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