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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
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
    1 experiment
Homology
more
  • Human Ortholog
    ATP8B1, ATPase phospholipid transporting 8B1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ATP8B1, ATPase phospholipid transporting 8B1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1
  • Links
    NCBI Gene ID: 5205
    neXtProt AC: NX_O43520

  • Chr Location
    18q21.31; chr18:57646426-57803822 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Atp8b1 mouse models; 3 with human ATP8B1 associations

Human Disease Mouse Models
       Cholestasis, Progressive Familial Intrahepatic, 1; PFIC1   OMIM: 211600 View 1 model
       Cholestasis, Benign Recurrent Intrahepatic, 1; BRIC1   OMIM: 243300
Cholestasis, Intrahepatic, of Pregnancy, 1; ICP1   OMIM: 147480
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
    8 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
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
Interactions
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Sequences &
Gene Models
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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
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  • 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 33
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 8
    Phenotypes 8
  • 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:227543 Bruurs LJ, et al., ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization. J Cell Biol. 2015 Sep 28;210(7):1055-63

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory