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Abca1 Gene Detail
 Symbol
Name
ID
Abca1
ATP-binding cassette, sub-family A (ABC1), member 1
MGI:99607


Nomenclature History
Synonyms ABC1
Genetic Map
Chromosome 4
23.1 cM, cytoband A5-B3
Detailed Genetic Map ± 1 cM
 
Mapping data( 8)

Sequence Map
Chr4:53043659-53172767 bp, - strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Comparative Map (Mouse/Human Abca1 ± 2 cM)
TreeFam: TF105191
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000007157 VEGA Gene Model | MGI Sequence Detail 129109 C57BL/6J ± Kb
transcript NM_013454 RefSeq | MGI Sequence Detail 10260 C57BL/6
polypeptide P41233 UniProt | EBI | MGI Sequence Detail 2261 Not Applicable
For the selected sequences
All sequences(35)
Alleles
and
phenotypes
All alleles(8) : Targeted, knock-out(5) Targeted, other(1) 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.
Associated Human Diseases (2)   Alleles Annotated to Human Diseases (6)   Phenotype Images (1)  
Polymorphisms RFLP(1) SNPs within 2kb(1004 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications(33)
Process cholesterol efflux, cholesterol metabolic process...
Component Golgi apparatus, integral to membrane...
Function anion transmembrane transporter activity, ATP binding...
External Resources: MouseFunc
Expression Literature Summary: (5 records)
Data Summary: Assays (1)    Results (2)    Tissues (1)    Images (2)
Theiler Stages: 21
  Assay Type Assays   Results
      RNA in situ 1   2
cDNA source data(100)
External Resources: Allen Brain Atlas  GEO 
Molecular
reagents
All nucleic(101) cDNA(100) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene Model ENSMUSG00000015243
DoTS DT.491162, DT.91590402
UniGene 277376
DFCI TC1582475, TC1597897, TC1696417, TC1764253
NIA Mouse Gene Index U025071
Entrez Gene 11303
VEGA Gene Model OTTMUSG00000007157
International Mouse Knockout Project Status Abca1
Protein
domains
InterPro ID Description
IPR003439 ABC transporter-like
IPR003593 ATPase, AAA+ type, core
IPR017871 ABC transporter, conserved site
Graphical View of Protein Domain Structure
References
(Earliest) J:24443 Higgins CF, "ABC transporters: from microorganisms to man." Annu Rev Cell Biol 1992;8():67-113
(Latest) J:153479 Samyn H et al., "Reduction of HDL levels lowers plasma PLTP and affects its distribution among lipoproteins in mice." Biochim Biophys Acta 2009 Aug;1791(8):790-6
All references(102)
Other
accession IDs
MGD-MRK-16392

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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last database update
11/20/2009
MGI_4.31
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The Jackson Laboratory