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Abca1 Gene Detail
Summary
  • Symbol
    Abca1
  • Name
    ATP-binding cassette, sub-family A (ABC1), member 1
  • Synonyms
    ABC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:99607
    NCBI Gene: 11303
  • Gene Overview
    MyGene.info: ABCA1
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr4:53030787-53159895 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      129109 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 28.57 cM, cytoband A5-B3
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    ABCA1, ATP binding cassette subfamily A member 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ABCA1, ATP binding cassette subfamily A member 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABC1, ABC-1, CERP, HDLDT1, TGD
  • Links
    NCBI Gene ID: 19
    neXtProt AC: NX_O95477
    UniProt: O95477

  • Chr Location
    9q31.1; chr9:104781002-104928246 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Abca1 mouse models; 2 with human ABCA1 associations

Human Disease Mouse Models
      
IDs
 View 7 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    6 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    67 phenotypes from 9 alleles in 16 genetic backgrounds
    40 phenotypes from multigenic genotypes
    1 images
    137 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Many homozygous null mutants die perinatally with placental defects. Survivors show altered steroidogenesis, defective lipid export in Golgi, low serum cholesterol, lipid accumulation in macrophages and lung, reduced fertility and kidney and heart defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    87
  • GO References
    20
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
    263
  • Tissues
    141
  • cDNA Data
    103
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000007157 VEGA Gene Model | MGI Sequence Detail 129109 C57BL/6J ±  kb
    transcript OTTMUST00000016509 VEGA | MGI Sequence Detail 10262 Not Applicable  
    polypeptide OTTMUSP00000007567 VEGA | MGI Sequence Detail 2261 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1017 from dbSNP Build 142
    • RFLP
      1
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 105
      cDNA 103
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16392
    References
    more
    • Summaries
      All 269
      Developmental Gene Expression 16
      Diseases 5
      Gene Ontology 20
      Phenotypes 137
    • Earliest
      J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
    • Latest
      J:264674 Ban N, et al., Disrupted cholesterol metabolism promotes age-related photoreceptor neurodegeneration. J Lipid Res. 2018 Aug;59(8):1414-1423
    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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    Send questions and comments to User Support.     		last database update
    10/09/2018
    MGI 6.12     		The Jackson Laboratory