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(9)

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; 1 western clawed frog; 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

Mutations,
alleles, and
phenotypes

All mutations/alleles(14) : Chemically induced (ENU)(1) Gene trapped(1) Targeted(10) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 

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 in Mice Using Abca1 (2)    Mutations Annotated to Human Diseases (6)    Phenotype Images(1)

Interactions

Abca1 interacts with 446 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (81 annotations)

Process	apolipoprotein A-I-mediated signaling pathway, cellular response to lipopolysaccharide, ...
Component	cell surface, endocytic vesicle, ...
Function	anion transmembrane transporter activity, apolipoprotein A-I binding, ...

External Resources: FuncBase

Expression

Literature Summary: (14 records)

Data Summary: Results (191)    Tissues (104)    Images (28)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	191

cDNA source data(101)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(102) cDNA(101) Other(1)
Microarray probesets(6)

Other database
links

VEGA Gene Model	OTTMUSG00000007157 (Evidence)
Ensembl Gene Model	ENSMUSG00000015243 (Evidence)
Entrez Gene	11303 (Evidence)
UniGene	277376
DFCI	TC1582475, TC1597897, TC1696417, TC1764253
DoTS	DT.491162, DT.91590402
NIA Mouse Gene Index	U025071
Consensus CDS Project	CCDS18187.1
International Mouse Knockout Project Status	Abca1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000007157	VEGA Gene Model | MGI Sequence Detail	129109	C57BL/6J
transcript	OTTMUST00000016509	VEGA | MGI Sequence Detail	10262	Not Applicable
polypeptide	OTTMUSP00000007567	VEGA | MGI Sequence Detail	2261	Not Applicable

All sequences(47) RefSeq(8) UniProt(2)

Polymorphisms

RFLP(1) : SNPs within 2kb(1035 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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:216077 Iqbal J, et al., Intestine-specific MTP and global ACAT2 deficiency lowers acute cholesterol absorption with chylomicrons and HDLs. J Lipid Res. 2014 Nov;55(11):2261-75
All references(202)
Disease annotation references (4)

Other
accession IDs

MGD-MRK-16392