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Abca1 Gene Detail
Summary
  • Symbol
    Abca1
  • Name
    ATP-binding cassette, sub-family A member 1
  • Synonyms
    ABC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:99607
    NCBI Gene: 11303
  • Alliance
    gene page
  • Transcription Start Sites
    58 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:53030787-53159895 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 28.57 cM, cytoband A5-B3
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1017 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99607
 protein coding gene Chr4:53030787-53159988 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028298
 protein coding gene Chr4:51642218-51779143 (-)
A/J MGP_AJ_G0028259
 protein coding gene Chr4:49666454-49790031 (-)
AKR/J MGP_AKRJ_G0028208
 protein coding gene Chr4:51025623-51153100 (-)
BALB/cJ MGP_BALBcJ_G0028278
 protein coding gene Chr4:49844173-49970288 (-)
C3H/HeJ MGP_C3HHeJ_G0027999
 protein coding gene Chr4:51575613-51702976 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028719
 protein coding gene Chr4:53561151-53692448 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026027
 protein coding gene Chr4:46638755-46764905 (-)
CAST/EiJ MGP_CASTEiJ_G0027437
 protein coding gene Chr4:51217997-51347536 (-)
CBA/J MGP_CBAJ_G0027964
 protein coding gene Chr4:55373723-55506770 (-)
DBA/2J MGP_DBA2J_G0028114
 protein coding gene Chr4:49640556-49770652 (-)
FVB/NJ MGP_FVBNJ_G0028081
 protein coding gene Chr4:48870528-48996813 (-)
LP/J MGP_LPJ_G0028213
 protein coding gene Chr4:51751399-51881576 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028105
 protein coding gene Chr4:58621983-58766630 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028755
 protein coding gene Chr4:51261404-51391432 (-)
PWK/PhJ MGP_PWKPhJ_G0027162
 protein coding gene Chr4:49597496-49722338 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026990
 protein coding gene Chr4:50551180-50679825 (-)
WSB/EiJ MGP_WSBEiJ_G0027515
 protein coding gene Chr4:51148377-51277718 (-)



Homology
more
  • Human Ortholog
    ABCA1, ATP binding cassette subfamily A member 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ABCA1, ATP binding cassette subfamily A member 1
  • Synonyms
    ABC1, ABC-1, CERP, HDLCQTL13, HDLDT1, HPALP1, TGD
  • Links
    NCBI Gene ID: 19
    neXtProt AC: NX_O95477
    UniProt: O95477

  • Chr Location
    9q31.1; chr9:104781006-104928155 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Abca1 mouse models; 7 with human ABCA1 associations

Human Disease Mouse Models
      
IDs
 View 7 models
      
IDs
IDs
IDs
IDs
IDs
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
less
  • Phenotype Summary
    64 phenotypes from 8 alleles in 15 genetic backgrounds
    42 phenotypes from multigenic genotypes
    1 images
    176 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.
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
less
  • All GO Annotations
    125
  • GO References
    23
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
non-membrane-bounded 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
    1011
  • Tissues
    157
  • cDNA Data
    103
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000015243 Ensembl Gene Model | MGI Sequence Detail 129109 C57BL/6J ±  kb
    transcript ENSMUST00000030010 Ensembl | MGI Sequence Detail 10262 Not Applicable  
    polypeptide ENSMUSP00000030010 Ensembl | MGI Sequence Detail 2261 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 109
      cDNA 103
      Primer pair 4
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16392
    References
    more
    • Summaries
      All 328
      Developmental Gene Expression 18
      Diseases 5
      Gene Ontology 23
      Phenotypes 176
    • Earliest
      J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
    • Latest
      J:346197 Liimatta J, et al., Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis. Endocrinology. 2024 Jan 16;165(3)
    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
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory