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Abca1
Gene Detail
 Symbol
Name
ID
Abca1
ATP-binding cassette, sub-family A (ABC1), member 1
MGI:99607
Synonyms ABC1
Feature Type protein coding gene
Genetic Map
Chromosome 4
28.57 cM, cytoband A5-B3
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr4:53030787-53159895 bp, - strand
From VEGA annotation of GRCm38

  129109 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:21130  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Abca1

Human
homologs
Human Homolog ABCA1, ATP-binding cassette, sub-family A (ABC1), member 1
NCBI Gene ID 19
neXtProt AC  NX_O95477
Human Synonyms  ABC1, ABC-1, CERP, HDLDT1, TGD
Human Chr (Location)  9q31.1; chr9:104781002-104928246 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human ABCA1
Alleles
and
phenotypes
All alleles(12) : Targeted(10) Gene trapped(1) Chemically induced(1)
 
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.
 
Human Diseases Modeled Using Mouse Abca1 (2)    Alleles Annotated to Human Diseases(6)    Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (76 annotations)
Process apolipoprotein A-I-mediated signaling pathway, ATP catabolic process, ...
Component cell surface, endocytic vesicle, ...
Function anion transmembrane transporter activity, apolipoprotein A-I binding, ...
External Resources: FuncBase
Expression
Literature Summary: (13 records)
Data Summary: Results (191)    Tissues (104)    Images (28)
Theiler Stages: 21, 22, 23
Assay TypeResults
RNA in situ 191
cDNA source data(101)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(102) cDNA(101) Other(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000007157 (Evidence)
Ensembl Gene ModelENSMUSG00000015243 (Evidence)
Entrez Gene11303 (Evidence)
UniGene277376
DFCITC1582475, TC1597897, TC1696417, TC1764253
DoTSDT.491162, DT.91590402
NIA Mouse Gene IndexU025071
Consensus CDS ProjectCCDS18187.1
International Mouse Knockout Project StatusAbca1
Sequences
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 sequences
All sequences(47) RefSeq(8) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(1035 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR026082 ABC transporter A, ABCA
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003537 ATP-binding cassette sub-family A member 1
References (Earliest) J:24443 Higgins CF, ABC transporters: from microorganisms to man. Annu Rev Cell Biol. 1992;8:67-113
(Latest) J:204909 Iqbal J, et al., Lipid absorption defects in intestine-specific microsomal triglyceride transfer protein and ATP-binding cassette transporter A1-deficient mice. J Biol Chem. 2013 Oct 18;288(42):30432-44
All references(188)
Other
accession IDs
MGD-MRK-16392

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory