About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:64662050-64794342 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 37.49 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3795 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859665
 protein coding gene Chr18:64662038-64794342 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024505
 protein coding gene Chr18:64594324-64738465 (-)
A/J MGP_AJ_G0024472
 protein coding gene Chr18:61804845-61938010 (-)
AKR/J MGP_AKRJ_G0024442
 protein coding gene Chr18:63534434-63677110 (-)
BALB/cJ MGP_BALBcJ_G0024471
 protein coding gene Chr18:61950841-62084283 (-)
C3H/HeJ MGP_C3HHeJ_G0024239
 protein coding gene Chr18:63751019-63887700 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024918
 protein coding gene Chr18:66320647-66466238 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022349
 protein coding gene Chr18:61248132-61387876 (-)
CAST/EiJ MGP_CASTEiJ_G0023712
 protein coding gene Chr18:63668961-63813834 (-)
CBA/J MGP_CBAJ_G0024209
 protein coding gene Chr18:68473754-68622159 (-)
DBA/2J MGP_DBA2J_G0024339
 protein coding gene Chr18:61470227-61603328 (-)
FVB/NJ MGP_FVBNJ_G0024305
 protein coding gene Chr18:60852127-60932841 (-)
LP/J MGP_LPJ_G0024423
 protein coding gene Chr18:64456769-64536057 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024334
 protein coding gene Chr18:69965640-70107700 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024965
 protein coding gene Chr18:63745785-63901926 (-)
PWK/PhJ MGP_PWKPhJ_G0023455
 protein coding gene Chr18:61698569-61834601 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023260
 protein coding gene Chr18:63898147-64033604 (-)
WSB/EiJ MGP_WSBEiJ_G0023776
 protein coding gene Chr18:63603782-63749605 (-)



Homology
more
  • Human Ortholog
    ATP8B1, ATPase phospholipid transporting 8B1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ATP8B1, ATPase phospholipid transporting 8B1
  • Synonyms
    ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1
  • Links
    NCBI Gene ID: 5205
    neXtProt AC: NX_O43520
    UniProt: O43520

  • Chr Location
    18q21.31; chr18:57646426-57803315 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human ATP8B1 associations

Human Disease Mouse Models
      
IDs
IDs
 View 1 model
IDs
IDs
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
less
  • Phenotype Summary
    60 phenotypes from 2 alleles in 3 genetic backgrounds
    11 phenotypes from multigenic genotypes
    22 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
less
  • All GO Annotations
    55
  • GO References
    16
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    720
  • Tissues
    14
  • cDNA Data
    7
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 54670 NCBI Gene Model | MGI Sequence Detail 132293 C57BL/6J ±  kb
    transcript NM_001001488 RefSeq | MGI Sequence Detail 6440 C57BL/6  
    polypeptide Q148W0 UniProt | EBI | MGI Sequence Detail 1251 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      Genomic 2
      cDNA 7

      Microarray probesets 1
    Other
    Accession IDs
    less
    MGI:2147231
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 16
      Phenotypes 22
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory