About   Help   FAQ
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
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:53030787-53159895 bp, - strand
  • From Ensembl annotation of GRCm38

    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
    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
less
  • Phenotype Summary
    65 phenotypes from 9 alleles in 16 genetic backgrounds
    40 phenotypes from multigenic genotypes
    1 images
    142 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
less
  • All GO Annotations
    88
  • GO References
    21
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 population 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 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 105
      cDNA 103
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-16392
    References
    more
    • Summaries
      All 275
      Developmental Gene Expression 16
      Diseases 5
      Gene Ontology 21
      Phenotypes 142
    • Earliest
      J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
    • Latest
      J:267208 Iqbal J, et al., ATP binding cassette family A protein 1 determines hexosylceramide and sphingomyelin levels in human and mouse plasma. J Lipid Res. 2018 Nov;59(11):2084-2097
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.     		last database update
    02/05/2019
    MGI 6.13     		The Jackson Laboratory