ATP8B1 Gene (Protein Coding)

ATPase Phospholipid Transporting 8B1

GC18M057646
GIFtS:
42
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 beni... See more...

Aliases for ATP8B1 Gene

Aliases for ATP8B1 Gene

  • ATPase Phospholipid Transporting 8B1 2 3 5
  • ATPase, Class I, Type 8B, Member 1 2 2 3
  • ATPase, Aminophospholipid Transporter, Class I, Type 8B, Member 1 2 3
  • P4-ATPase Flippase Complex Alpha Subunit ATP8B1 3 4
  • Familial Intrahepatic Cholestasis Type 1 3 4
  • Phospholipid-Transporting ATPase IC 3 4
  • ATPIC 3 4
  • FIC1 3 4
  • PFIC 3 4
  • Probable Phospholipid-Transporting ATPase IC 3
  • ATPase Class I Type 8B Member 1 4
  • E1-E2 ATPase 3
  • EC 3.6.3.1 54
  • EC 7.6.2.1 4
  • EC 3.6.3 54
  • PFIC1 3
  • ICP1 3
  • BRIC 3

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 Phospholipid Transporting 8B1) is a Protein Coding gene. Diseases associated with ATP8B1 include Cholestasis, Benign Recurrent Intrahepatic, 1 and Cholestasis, Progressive Familial Intrahepatic, 1. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP8B4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ATP8B1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP8B1 Gene

Genomics for ATP8B1 Gene

GeneHancer (GH) Regulatory Elements for ATP8B1 Gene

Promoters and enhancers for ATP8B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J057778 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 763.9 +12.4 12421 26 ZBTB6 FOXA1 MLX RBPJ SMARCE1 NR2F1 NR2F6 CREB1 MIXL1 MYC ATP8B1 NARS1 MALT1 RNU6-742P lnc-NEDD4L-2 MRPS17P7
GH18J057811 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -9.1 -9081 3.4 USF2 MIXL1 CEBPG ZNF24 ZNF644 KAT8 POLR2A CEBPA GATAD2A RXRB ATP8B1 RNU6-742P NARS1 RSL24D1P11
GH18J057806 Enhancer 0.8 ENCODE dbSUPER 14.4 -4.3 -4254 3.7 FOXA1 POLR2A FOXA2 SP1 CEBPB JUN RCOR1 JUND EP300 OSR2 ATP8B1 RNU6-742P NARS1 lnc-NEDD4L-2 RSL24D1P11
GH18J057819 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.3 -16.5 -16479 3.4 SMARCE1 ELF1 HLF L3MBTL2 RAD21 DACH1 TEAD4 SP1 CBFA2T2 MLLT1 RNU6-742P NARS1 ATP8B1 RSL24D1P11
GH18J057816 Enhancer 0.8 Ensembl dbSUPER 10 -12.5 -12479 1.4 MLX RBPJ L3MBTL2 CEBPG CEBPA RCOR2 OSR2 NR2C2 CEBPB ZSCAN23 RNU6-742P NARS1 ATP8B1 RSL24D1P11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP8B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATP8B1 gene promoter:
  • Cart-1
  • Evi-1
  • GATA-6
  • GR
  • GR-alpha
  • GR-beta
  • IRF-2
  • Lmo2
  • Nkx2-2

Genomic Locations for ATP8B1 Gene

Genomic Locations for ATP8B1 Gene
chr18:57,646,426-57,803,822
(GRCh38/hg38)
Size:
157,397 bases
Orientation:
Minus strand
chr18:55,313,658-55,470,333
(GRCh37/hg19)
Size:
156,676 bases
Orientation:
Minus strand

Genomic View for ATP8B1 Gene

Genes around ATP8B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP8B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP8B1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATP8B1 Gene

Proteins for ATP8B1 Gene

Products:

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  • 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

Protein Expression for ATP8B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ATP8B1 Gene

O43520:
  • TAIEDKLQ
  • LDTSYWTF
  • RAANLYFL
  • SPDEGALV
  • TLAIGDG
  • EGMQAVM
  • YQAASPDE
  • VVDLVKRYKK
  • CKFLRYFFYK
  • AVICCRVTPKQKA
  • RRSAYAFSH
  • ARTTTLNE
  • MIKTAHIGVGISGQEG
  • SDYSFAQFRYLQRLLLVHGRWSY
  • LAIGDGA
  • FSDKTGTLT
  • WVLTGDK
  • DGETNLK
  • DKTGTLT
  • PISLYVS

Post-translational modifications for ATP8B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATP8B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ATP8B1 Gene

Gene Families for ATP8B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ATP8B1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATP8B1 Gene

GenScript: Design optimal peptide antigens:
  • Familial intrahepatic cholestasis type 1 (AT8B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43520

UniProtKB/Swiss-Prot:

AT8B1_HUMAN :
  • Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily.
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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ATP8B1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).; EC=7.6.2.1;.

Enzyme Numbers (IUBMB) for ATP8B1 Gene

Phenotypes From GWAS Catalog for ATP8B1 Gene

Gene Ontology (GO) - Molecular Function for ATP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004012 phospholipid-translocating ATPase activity IEA --
GO:0005319 lipid transporter activity IEA --
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

Human Phenotype Ontology for ATP8B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP8B1 Gene

MGI Knock Outs for ATP8B1:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets 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 (PubMed:20947505). Localizes to apical membranes in epithelial cells (PubMed:20512993). {ECO:0000269 PubMed:20512993, ECO:0000269 PubMed:20947505}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP8B1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
cytosol 3
nucleus 1
endosome 1

Gene Ontology (GO) - Cellular Components for ATP8B1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP8B1 Gene

Pathways & Interactions for ATP8B1 Gene

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

Pathways by source for ATP8B1 Gene

Interacting Proteins for ATP8B1 Gene

Selected Interacting proteins: O43520-AT8B1_HUMAN for ATP8B1 Gene via UniProtKB IID

GPS-Prot Interaction Network for ATP8B1

Gene Ontology (GO) - Biological Process for ATP8B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IDA 20510206
GO:0006869 lipid transport IEA --
GO:0007030 Golgi organization IBA 21873635
GO:0007605 sensory perception of sound IEA --
GO:0008206 bile acid metabolic process IEA --
genes like me logo Genes that share ontologies with ATP8B1: view

No data available for SIGNOR curated interactions for ATP8B1 Gene

Drugs & Compounds for ATP8B1 Gene

Products:

  1. Drug

(3) Drugs for ATP8B1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(403) Additional Compounds for ATP8B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
PA(16:0/16:0)
  • 1,2-Dipalmitoyl-3-sn-phosphatidic acid
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphate
  • 1,2-Dipalmitoyl-sn-glycerol-3-phosphoric acid
  • Dipalmitoyl phosphatidic acid
  • PA(32:0)
 7091-44-3
PA(16:0/18:1(11Z))
  • 1-Hexadecanoyl-2-(11Z-octadecenoyl)-sn-phosphatidic acid
  • 1-Palmitoyl-2-vaccenoyl-sn-glycero-3-phosphate
  • PA(16:0/18:1)
  • PA(16:0/18:1N7)
  • PA(16:0/18:1W7)
PA(16:0/18:1(9Z))
  • (2R)-1-(Palmitoyloxy)-3-(phosphonooxy)propan-2-yl (9Z)-octadec-9-enoate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycerol 3-phosphate
  • 1-Hexadecanoyl-2-(9Z-octadecenoyl)-sn-phosphatidic acid
  • PA(16:0/18:1)
PA(16:0/18:2(9Z,12Z))
  • 1-16:0-2-18:2-Phosphatidic acid
  • 1-Palmitoyl-2-linoleoyl-sn-glycero-3-phosphate
  • 16:0-18:2-PA
  • 2-Linoleoyl-1-palmitoyl-sn-glycero-3-phosphate
  • PA(16:0/18:2)
genes like me logo Genes that share compounds with ATP8B1: view

Transcripts for ATP8B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ATP8B1 Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATP8B1 Gene

mRNA expression in normal human tissues for ATP8B1 Gene
mRNA expression by GTEx for ATP8B1 GenemRNA expression by BioGPS for ATP8B1 Gene

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

This gene is overexpressed in Colon - Transverse (x6.7).

Protein differential expression in normal tissues from HIPED for ATP8B1 Gene

This gene is overexpressed in Nasal epithelium (46.7) and Amniocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP8B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ATP8B1 Gene:

ATP8B1

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.

Evidence on tissue expression from TISSUES for ATP8B1 Gene

  • Liver(4.6)
  • Intestine(4.5)
  • Nervous system(2.4)
  • Gall bladder(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP8B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ATP8B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for ATP8B1 Gene

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 33 32
  • 98.21 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ATP8B1 33 32
  • 90.45 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ATP8B1 33
  • 90 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ATP8B1 33 32
  • 88.46 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Atp8b1 17 33 32
  • 87.08 (n)
rat
(Rattus norvegicus)
 Mammalia Atp8b1 32
  • 86.78 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ATP8B1 33
  • 85 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ATP8B1 33 32
  • 76.54 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ATP8B1 33
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia atp8b1 32
  • 71.84 (n)
Str.4355 32
African clawed frog
(Xenopus laevis)
 Amphibia Xl.30356 32
zebrafish
(Danio rerio)
 Actinopterygii atp8b1 33 32
  • 65.62 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG14741 33 34
  • 34 (a)
 OneToMany
CG9981 34
  • 30 (a)
worm
(Caenorhabditis elegans)
 Secernentea tat-2 33
  • 43 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 41 (a)
 OneToOne
Species where no ortholog for ATP8B1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ATP8B1: view image

Paralogs for ATP8B1 Gene

Paralogs for ATP8B1 Gene

(13) SIMAP similar genes for ATP8B1 Gene using alignment to 4 proteins:

  • AT8B1_HUMAN
  • K7EQC4_HUMAN
  • K7ERI0_HUMAN
  • K7ESK2_HUMAN
genes like me logo Genes that share paralogs with ATP8B1: view

Variants for ATP8B1 Gene

Products:

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Sequence variations from dbSNP and Humsavar for ATP8B1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs111033609 pathogenic, Progressive intrahepatic cholestasis, not provided, Cholestasis, progressive familial intrahepatic, 1 (PFIC1) [MIM:211600], Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) [MIM:243300] 57,695,188(-) C/A/T coding_sequence_variant, missense_variant
rs11152024 benign, Familial Intrahepatic Cholestasis 57,648,205(-) C/T 3_prime_UTR_variant
rs1129621 benign, Familial Intrahepatic Cholestasis 57,646,551(-) A/T 3_prime_UTR_variant
rs11543269 likely-benign, Familial Intrahepatic Cholestasis 57,646,765(-) C/T 3_prime_UTR_variant
rs117182648 benign, likely-benign, not specified, Familial Intrahepatic Cholestasis 57,650,421(-) G/A coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv1050363 CNV deletion 17803354
esv1135051 CNV insertion 17803354
esv1788273 CNV deletion 17803354
esv2717150 CNV deletion 23290073
esv2717152 CNV deletion 23290073
esv2717153 CNV deletion 23290073
esv2751777 CNV gain 17911159
esv3555451 CNV deletion 23714750
esv3574064 CNV gain 25503493
esv3642634 CNV loss 21293372
esv3642635 CNV loss 21293372
esv3642637 CNV loss 21293372
nsv2319 CNV insertion 18451855
nsv2320 CNV insertion 18451855
nsv458086 CNV gain 19166990
nsv458087 CNV loss 19166990
nsv577032 CNV gain 21841781
nsv577033 CNV loss 21841781
nsv833663 CNV gain 17160897
nsv953553 CNV deletion 24416366

Variation tolerance for ATP8B1 Gene

Residual Variation Intolerance Score: 39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.50; 71.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP8B1 Gene

Human Gene Mutation Database (HGMD)
ATP8B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP8B1

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

Disorders for ATP8B1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ATP8B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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:19731236, 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:19731236, 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, ECO:0000269 PubMed:19731236}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATP8B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for ATP8B1 Gene

  1. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. (PMID: 15888793) Müllenbach R … Williamson C (Gut 2005) 3 4 23 43 56
  2. A missense mutation in FIC1 is associated with greenland familial cholestasis. (PMID: 11093741) Klomp LW … Houwen RH (Hepatology (Baltimore, Md.) 2000) 3 4 23 43 56
  3. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. (PMID: 9500542) Bull LN … Freimer NB (Nature genetics 1998) 2 3 4 23 56
  4. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. (PMID: 20038848) Liu LY … Wang JS (Journal of pediatric gastroenterology and nutrition 2010) 3 4 23 56
  5. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. (PMID: 17948906) Paulusma CC … Oude Elferink RP (Hepatology (Baltimore, Md.) 2008) 3 4 23 56

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