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Aliases for ATP8B1 Gene

Aliases for ATP8B1 Gene

  • ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 1 2 3
  • FIC1 3 4 6
  • P4-ATPase Flippase Complex Alpha Subunit ATP8B1 3 4
  • Familial Intrahepatic Cholestasis Type 1 3 4
  • ATPase, Class I, Type 8B, Member 1 2 3
  • EC 3.6.3.1 4 63
  • PFIC1 3 6
  • ATPIC 3 4
  • ICP1 3 6
  • BRIC 3 6
  • PFIC 3 4
  • Probable Phospholipid-Transporting ATPase IC 3
  • Phospholipid-Transporting ATPase IC 3
  • ATPase Class I Type 8B Member 1 4
  • E1-E2 ATPase 3
  • EC 3.6.3 63

External Ids for ATP8B1 Gene

Previous HGNC Symbols for ATP8B1 Gene

  • FIC1
  • BRIC
  • PFIC1

Previous GeneCards Identifiers for ATP8B1 Gene

  • GC18P055466
  • GC18M055290
  • GC18M055100
  • GC18M053464
  • GC18M053466
  • GC18M052024
  • GC18M055313

Summaries for ATP8B1 Gene

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, intrahepatic, of pregnancy, 1 and cholestasis, benign recurrent intrahepatic. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include magnesium ion binding and cation-transporting ATPase activity. An important paralog of this gene is ATP8B4.

UniProtKB/Swiss-Prot for ATP8B1 Gene

  • Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in 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. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury.

Gene Wiki entry for ATP8B1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP8B1 Gene

Genomics for ATP8B1 Gene

Regulatory Elements for ATP8B1 Gene

Genomic Location for ATP8B1 Gene

Start:
57,646,426 bp from pter
End:
57,803,310 bp from pter
Size:
156,885 bases
Orientation:
Minus strand

Genomic View for ATP8B1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP8B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP8B1 Gene

Proteins for ATP8B1 Gene

  • Protein details for ATP8B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43520-AT8B1_HUMAN
    Recommended name:
    Phospholipid-transporting ATPase IC
    Protein Accession:
    O43520
    Secondary Accessions:
    • Q9BTP8

    Protein attributes for ATP8B1 Gene

    Size:
    1251 amino acids
    Molecular mass:
    143695 Da
    Quaternary structure:
    • Component of a P4-ATPase flippase complex which consists of a catalytic alpha subunit and an accessory beta subunit (Probable). The probable flippase ATP8B1:TMEM30A complex can form an intermediate phosphoenzyme in vitro. Also interacts with beta subunit TMEM30B.

neXtProt entry for ATP8B1 Gene

Proteomics data for ATP8B1 Gene at MOPED

Post-translational modifications for ATP8B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP8B1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ATP8B1 Gene

Gene Families for ATP8B1 Gene

HGNC:
  • PATP :ATPases / P-type
IUPHAR :

Suggested Antigen Peptide Sequences for ATP8B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43520

UniProtKB/Swiss-Prot:

AT8B1_HUMAN :
  • O43520
Family:
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
genes like me logo Genes that share domains with ATP8B1: view

Function for ATP8B1 Gene

Molecular function for ATP8B1 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2)
UniProtKB/Swiss-Prot Function: Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules. May play a role in 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. In cooperation with ABCB4 may be involved in establishing integrity of the canalicular membrane thus protecting hepatocytes from bile salts. Together with TMEM30A is involved in uptake of the synthetic drug alkylphospholipid perifosine. Involved in the microvillus formation in polarized epithelial cells; the function seems to be independent from its flippase activity. Required for the preservation of cochlear hair cells in the inner ear. May act as cardiolipin transporter during inflammatory injury.

Enzyme Numbers (IUBMB) for ATP8B1 Gene

Gene Ontology (GO) - Molecular Function for ATP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding --
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity TAS 12880872
GO:0005515 protein binding IPI 19731236
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ATP8B1: view
genes like me logo Genes that share phenotypes with ATP8B1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP8B1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ATP8B1 Gene

Localization for ATP8B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP8B1 Gene

Cell membrane; Multi-pass membrane protein. Apical cell membrane. Cell projection, stereocilium. Endoplasmic reticulum. Golgi apparatus. Note=Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B. Localizes to apical membranes in epithelial cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP8B1 Gene COMPARTMENTS Subcellular localization image for ATP8B1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 5
cytosol 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ATP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21914794
GO:0005794 Golgi apparatus IDA 20947505
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 12880872
GO:0016020 membrane --
genes like me logo Genes that share ontologies with ATP8B1: view

Pathways for ATP8B1 Gene

genes like me logo Genes that share pathways with ATP8B1: view

Pathways by source for ATP8B1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IDA 20510206
GO:0007030 Golgi organization IBA --
GO:0007605 sensory perception of sound IEA --
GO:0008206 bile acid metabolic process IEA --
GO:0015721 bile acid and bile salt transport NAS 12880872
genes like me logo Genes that share ontologies with ATP8B1: view

Compounds for ATP8B1 Gene

(2605) HMDB Compounds for ATP8B1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
PA(16:0/16:0)
  • Dipalmitoylphosphatidic acid
7091-44-3
PA(16:0/18:1(11Z))
  • PA(16:0/18:1n7)
Not Available
PA(16:0/18:1(9Z))
  • PA(16:0/18:1n9)
Not Available

(3) Novoseek inferred chemical compound relationships for ATP8B1 Gene

Compound -log(P) Hits PubMed IDs
taurocholate 60.9 6
cholesterol 17.9 1
lipid 0 3
genes like me logo Genes that share compounds with ATP8B1: view

Transcripts for ATP8B1 Gene

Unigene Clusters for ATP8B1 Gene

ATPase, aminophospholipid transporter, class I, type 8B, member 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP8B1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATP8B1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP8B1 Gene

No ASD Table

Relevant External Links for ATP8B1 Gene

GeneLoc Exon Structure for
ATP8B1
ECgene alternative splicing isoforms for
ATP8B1

Expression for ATP8B1 Gene

mRNA expression in normal human tissues for ATP8B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP8B1 Gene

This gene is overexpressed in Colon - Transverse (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP8B1 Gene

SOURCE GeneReport for Unigene cluster for ATP8B1 Gene Hs.216623

mRNA Expression by UniProt/SwissProt for ATP8B1 Gene

O43520-AT8B1_HUMAN
Tissue specificity: Found in most tissues except brain and skeletal muscle. Most abundant in pancreas and small intestine
genes like me logo Genes that share expressions with ATP8B1: view

In Situ Assay Products

Orthologs for ATP8B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP8B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP8B1 35
  • 98.21 (n)
  • 98.23 (a)
ATP8B1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP8B1 35
  • 88.46 (n)
  • 91.69 (a)
ATP8B1 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP8B1 35
  • 90.45 (n)
  • 94.08 (a)
ATP8B1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp8b1 35
  • 87.08 (n)
  • 94.56 (a)
Atp8b1 16
Atp8b1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP8B1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP8B1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp8b1 35
  • 86.78 (n)
  • 93.69 (a)
chicken
(Gallus gallus)
Aves ATP8B1 35
  • 76.54 (n)
  • 81.42 (a)
ATP8B1 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATP8B1 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.30356 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp8b1 35
  • 71.84 (n)
  • 76.74 (a)
Str.4355 35
zebrafish
(Danio rerio)
Actinopterygii atp8b1 35
  • 65.62 (n)
  • 69.74 (a)
atp8b1 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14741 36
  • 34 (a)
OneToMany
CG14741 37
  • 55 (a)
CG9981 37
  • 30 (a)
worm
(Caenorhabditis elegans)
Secernentea tat-2 36
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for ATP8B1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP8B1 Gene

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

Paralogs for ATP8B1 Gene

Paralogs for ATP8B1 Gene

genes like me logo Genes that share paralogs with ATP8B1: view

Variants for ATP8B1 Gene

Sequence variations from dbSNP and Humsavar for ATP8B1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs160993 -- 57,692,180(+) GCTGC(A/G)ATTGA intron-variant
rs160994 -- 57,690,197(+) accta(C/T)gtaag intron-variant
rs182652 -- 57,740,866(-) ggata(C/T)ggtag intron-variant
rs182653 -- 57,686,110(+) aacaa(A/C)aatta intron-variant
rs317808 -- 57,689,975(+) cgcgc(G/T)actgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP8B1 Gene

Variant ID Type Subtype PubMed ID
esv2751777 CNV Gain 17911159
nsv458086 CNV Gain 19166990
nsv909663 CNV Gain 21882294
nsv833663 CNV Gain 17160897
nsv909664 CNV Loss 21882294
nsv2319 CNV Insertion 18451855
nsv458087 CNV Loss 19166990
esv1788273 CNV Deletion 17803354
esv2717150 CNV Deletion 23290073
esv1135051 CNV Insertion 17803354
esv1050363 CNV Deletion 17803354
nsv2320 CNV Insertion 18451855
esv2717152 CNV Deletion 23290073
esv2717153 CNV Deletion 23290073

Relevant External Links for ATP8B1 Gene

HapMap Linkage Disequilibrium report
ATP8B1
Human Gene Mutation Database (HGMD)
ATP8B1
Locus Specific Mutation Databases (LSDB)
ATP8B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP8B1 Gene

Disorders for ATP8B1 Gene

(3) OMIM Diseases for ATP8B1 Gene (602397)

UniProtKB/Swiss-Prot

AT8B1_HUMAN
  • 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. {ECO:0000269 PubMed:11093741, ECO:0000269 PubMed:15239083, ECO:0000269 PubMed:20038848, ECO:0000269 PubMed:23197899, ECO:0000269 PubMed:9500542}. 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. {ECO:0000269 PubMed:15239083, ECO:0000269 PubMed:9500542, ECO:0000269 PubMed:9918928}. 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. {ECO:0000269 PubMed:15657619, ECO:0000269 PubMed:15888793}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for ATP8B1 Gene

(9) Novoseek inferred disease relationships for ATP8B1 Gene

Disease -log(P) Hits PubMed IDs
byler disease 98 24
cholestasis, benign recurrent intrahepatic 96.4 8
pfic3 96.4 3
pfic2 95.7 6
cholestasis intrahepatic 95.7 29

Relevant External Links for ATP8B1

GeneTests
ATP8B1
GeneReviews
ATP8B1
Genetic Association Database (GAD)
ATP8B1
Human Genome Epidemiology (HuGE) Navigator
ATP8B1
genes like me logo Genes that share disorders with ATP8B1: view

Publications for ATP8B1 Gene

  1. A missense mutation in FIC1 is associated with Greenland familial cholestasis. (PMID: 11093741) Klomp L.W.J. … Houwen R.H.J. (Hepatology 2000) 3 4 23 48
  2. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. (PMID: 9500542) Bull L.N. … Freimer N.B. (Nat. Genet. 1998) 2 3 4 23
  3. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. (PMID: 15888793) Muellenbach R. … Williamson C. (Gut 2005) 3 4 23 48
  4. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. (PMID: 17948906) Paulusma C.C. … Oude Elferink R.P. (Hepatology 2008) 3 4 23
  5. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. (PMID: 20038848) Liu L.Y. … Wang J.S. (J. Pediatr. Gastroenterol. Nutr. 2010) 3 4 23

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