Abca5 ATP-binding cassette, sub-family A member 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca5provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 5provided by MGI
Primary source: MGI:MGI:2386607
See related: Ensembl:ENSMUSG00000018800 AllianceGenome:MGI:2386607
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ABC13; mKIAA1888; B930033A02Rik
Summary: Predicted to enable ATPase-coupled transmembrane transporter activity and lipid transporter activity. Involved in several processes, including cholesterol efflux; negative regulation of macrophage derived foam cell differentiation; and regulation of cholesterol transport. Located in late endosome and lysosome. Is expressed in cortical hem. Orthologous to human ABCA5 (ATP binding cassette subfamily A member 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in cerebellum adult (RPKM 4.0), cortex adult (RPKM 3.1) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 E1; 11 73.53 cM

Exon count:: 39

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (110160195..110228542, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (110269369..110337723, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ABCA5 influences macrophage cholesterol efflux, and selective disruption of ABCA5 in macrophages leads to increased atherosclerotic lesion development in female LDLr(-/-) mice.
Title: Macrophage ABCA5 deficiency influences cellular cholesterol efflux and increases susceptibility to atherosclerosis in female LDLr knockout mice.
ABCA5 is a protein related to a lysosomal disease and plays important roles, especially in cardiomyocytes and follicular cells
Title: ABCA5 resides in lysosomes, and ABCA5 knockout mice develop lysosomal disease-like symptoms.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Dcr22 (e-PCR), detects polymorphism
- UniSTS:507466

D11Mit100 (e-PCR), detects polymorphism
- UniSTS:126287

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ABC-type transporter activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol homeostasis	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in high-density lipoprotein particle remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of macrophage derived foam cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in regulation of cholesterol efflux	ISS Inferred from Sequence or Structural Similarity more info
involved_in reverse cholesterol transport	IC Inferred by Curator more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in late endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in late endosome	IDA Inferred from Direct Assay more info	PubMed
located_in late endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cholesterol transporter ABCA5

Names: ATP-binding cassette transporter sub-family A member 5; ATP-binding cassette, sub-family A (ABC1), member 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.