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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
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

  • Chr Location
    9q31.1; chr9:104781002-104928246 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    2 with Abca1 mouse models; 4 with human ABCA1 associations

Human Disease Mouse Models
       Tangier Disease; TGD   OMIM: 205400 View 7 models
       Membranoproliferative Glomerulonephritis, X-Linked   OMIM: 305800 View 1 model
       ATP-Binding Cassette, Subfamily A, Member 1; ABCA1   OMIM: 600046
Hypercholesterolemia, Familial   OMIM: 143890
Hypoalphalipoproteinemia, Primary   OMIM: 604091
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
    65 phenotypes from 8 alleles in 15 genetic backgrounds
    40 phenotypes from multigenic genotypes
    1 images
    128 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.
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    10
  • Transgenic
    3
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
    79
  • GO References
    20
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
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
    191
  • Tissues
    104
  • cDNA Data
    101
  • Literature Summary
    14
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
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000003537 ATP-binding cassette sub-family A member 1
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR026082 ABC transporter A, ABCA
    IPR017871 ABC transporter, conserved site
    IPR003439 ABC transporter-like
    IPR030365 ATP-binding cassette subfamily A member 1
    IPR020846 Major facilitator superfamily domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
less
  • All nucleic 102
    cDNA 101
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGD-MRK-16392
References
more
  • Summaries
    All 211
    Developmental Gene Expression 14
    Diseases 5
    Gene Ontology 20
    Phenotypes 128
  • Earliest
    J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
  • Latest
    J:234723 Wijesekara N, et al., ABCA1 deficiency and cellular cholesterol accumulation increases islet amyloidogenesis in mice. Diabetologia. 2016 Jun;59(6):1242-6
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
09/13/2016
MGI 6.05 		The Jackson Laboratory