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Atp8b1 Gene Detail
Summary
  • Symbol
    Atp8b1
  • Name
    ATPase, class I, type 8B, member 1
  • Synonyms
    FIC1, Ic
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859665
    NCBI Gene: 54670
  • Gene Overview
    MyGene.info: ATP8B1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr18:64528979-64661000 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      132022 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 37.49 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ATP8B1, ATPase phospholipid transporting 8B1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP8B1, ATPase phospholipid transporting 8B1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1
  • Links
    NCBI Gene ID: 5205
    neXtProt AC: NX_O43520
    UniProt: O43520

  • Chr Location
    18q21.31; chr18:57646426-57803828 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 21151
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: ATP8B1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human ATP8B1 associations

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 2 genetic backgrounds
    11 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mice display abnormal bile salt homeostasis, normal bile secretion, and an impaired ability to handle increased bile salt loading resulting in liver damage and weight loss on a bile salt supplemented diet.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000039529 Ensembl Gene Model | MGI Sequence Detail 132022 C57BL/6J ±  kb
    transcript ENSMUST00000025482 Ensembl | MGI Sequence Detail 6440 Not Applicable  
    polypeptide ENSMUSP00000025482 Ensembl | MGI Sequence Detail 1251 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      787 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 8
      Genomic 1
      cDNA 7

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGI:2147231
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 9
      Phenotypes 9
    • Earliest
      J:59384 Halleck MS, et al., Differential expression of putative transbilayer amphipath transporters. Physiol Genomics. 1999 Nov 11;1(3):139-50
    • Latest
      J:251366 van der Mark VA, et al., The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator. Biochim Biophys Acta. 2016 Sep;1863(9):2280-8

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory