Abca1 ATP-binding cassette, sub-family A member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Abca1provided by MGI
Official Full Name: ATP-binding cassette, sub-family A member 1provided by MGI
Primary source: MGI:MGI:99607
See related: Ensembl:ENSMUSG00000015243 AllianceGenome:MGI:99607
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: Abc1; ABC-1
Summary: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in ovary adult (RPKM 16.1), subcutaneous fat pad adult (RPKM 14.9) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B2; 4 28.57 cM

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (53030789..53159988, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (53030789..53159988, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

ABCA1 deficiency causes tissue-specific dysregulation of the SREBP2 pathway in mice.
Title: ABCA1 deficiency causes tissue-specific dysregulation of the SREBP2 pathway in mice.
miR-223 accelerates lipid droplets clearance in microglia following spinal cord injury by upregulating ABCA1.
Title: miR-223 accelerates lipid droplets clearance in microglia following spinal cord injury by upregulating ABCA1.
Targeting foamy macrophages by manipulating ABCA1 expression to facilitate lesion healing in the injured spinal cord.
Title: Targeting foamy macrophages by manipulating ABCA1 expression to facilitate lesion healing in the injured spinal cord.
CircRNA itchy E3 ubiquitin protein ligase improves mitochondrial dysfunction in sepsis-induced acute kidney injury by targeting microRNA-214-3p/ATP-binding cassette A1 axis.
Title: CircRNA itchy E3 ubiquitin protein ligase improves mitochondrial dysfunction in sepsis-induced acute kidney injury by targeting microRNA-214-3p/ATP-binding cassette A1 axis.
Circ-ABCA1 promotes oxidized low-density lipoprotein-induced inflammation and phenotypic switch in vascular smooth muscle cells.
Title: Circ-ABCA1 promotes oxidized low-density lipoprotein-induced inflammation and phenotypic switch in vascular smooth muscle cells.
Tubular deficiency of ABCA1 augments cholesterol- and Na[+]-dependent effects on systemic blood pressure in male mice.
Title: Tubular deficiency of ABCA1 augments cholesterol- and Na(+)-dependent effects on systemic blood pressure in male mice.
Paradoxical effect of Abeta on protein levels of ABCA1 in astrocytes, microglia, and neurons isolated from C57BL/6 mice: an in vitro and in silico study to elucidate the effect of Abeta on ABCA1 in the brain cells.
Title: Paradoxical effect of Aβ on protein levels of ABCA1 in astrocytes, microglia, and neurons isolated from C57BL/6 mice: an in vitro and in silico study to elucidate the effect of Aβ on ABCA1 in the brain cells.
Macrophage Gpx4 deficiency aggravates foam cell formation by regulating the expression of scavenger receptors, ABCA1, and ABCG1.
Title: Macrophage Gpx4 deficiency aggravates foam cell formation by regulating the expression of scavenger receptors, ABCA1, and ABCG1.
Cholesterol homeostasis regulated by ABCA1 is critical for retinal ganglion cell survival.
Title: Cholesterol homeostasis regulated by ABCA1 is critical for retinal ganglion cell survival.
ABCA1-Mediated EMT Promotes Papillary Thyroid Cancer Malignancy through the ERK/Fra-1/ZEB1 Pathway.
Title: ABCA1-Mediated EMT Promotes Papillary Thyroid Cancer Malignancy through the ERK/Fra-1/ZEB1 Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (308)

Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (6)
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:224558

X75926 (e-PCR)
- UniSTS:179001

PMC207565P1 (e-PCR)
- UniSTS:271951

ABCA1 (e-PCR)
- UniSTS:509927

PMC16657P1 (e-PCR)
- UniSTS:271599

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 binding	ISO Inferred from Sequence Orthology more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase binding	IEA Inferred from Electronic Annotation more info
enables ATPase binding	ISO Inferred from Sequence Orthology more info
enables ATPase-coupled transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase-coupled transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables apolipoprotein A-I binding	IEA Inferred from Electronic Annotation more info
enables apolipoprotein A-I binding	ISO Inferred from Sequence Orthology more info
enables apolipoprotein A-I receptor activity	IEA Inferred from Electronic Annotation more info
enables apolipoprotein A-I receptor activity	ISO Inferred from Sequence Orthology more info
enables apolipoprotein binding	ISO Inferred from Sequence Orthology more info
enables cholesterol transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cholesterol transfer activity	ISO Inferred from Sequence Orthology more info
enables floppase activity	ISO Inferred from Sequence Orthology more info
enables floppase activity	ISS Inferred from Sequence or Structural Similarity more info
enables high-density lipoprotein particle binding	IEA Inferred from Electronic Annotation more info
enables high-density lipoprotein particle binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylcholine binding	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine floppase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine floppase activity	ISO Inferred from Sequence Orthology more info
enables phosphatidylcholine floppase activity	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylserine floppase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylserine floppase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylserine floppase activity	ISO Inferred from Sequence Orthology more info
enables phospholipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables phospholipid transporter activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables sphingolipid floppase activity	IEA Inferred from Electronic Annotation more info
enables sphingolipid floppase activity	ISO Inferred from Sequence Orthology more info
enables syntaxin binding	IEA Inferred from Electronic Annotation more info
enables syntaxin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in apolipoprotein A-I-mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cholesterol	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cytokine stimulus	IEA Inferred from Electronic Annotation more info
NOT involved_in cellular response to high density lipoprotein particle stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to retinoic acid	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cholesterol efflux	ISO Inferred from Sequence Orthology more info
involved_in cholesterol homeostasis	IEA Inferred from Electronic Annotation more info
involved_in cholesterol homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in endosomal transport	IEA Inferred from Electronic Annotation more info
involved_in endosomal transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in export across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in high-density lipoprotein particle assembly	IEA Inferred from Electronic Annotation more info
involved_in high-density lipoprotein particle assembly	ISO Inferred from Sequence Orthology more info
involved_in intracellular cholesterol transport	IEA Inferred from Electronic Annotation more info
involved_in intracellular cholesterol transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipoprotein biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipoprotein biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lipoprotein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	IEA Inferred from Electronic Annotation more info
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peptide secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within phagocytosis, engulfment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid efflux	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phospholipid efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid efflux	ISO Inferred from Sequence Orthology more info
involved_in phospholipid homeostasis	IEA Inferred from Electronic Annotation more info
involved_in phospholipid homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phospholipid translocation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in phospholipid translocation	ISO Inferred from Sequence Orthology more info
involved_in phospholipid transport	ISO Inferred from Sequence Orthology more info
involved_in platelet dense granule organization	IEA Inferred from Electronic Annotation more info
involved_in platelet dense granule organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cholesterol efflux	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of high-density lipoprotein particle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein lipidation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	ISO Inferred from Sequence Orthology more info
involved_in protein transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of Cdc42 protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of Cdc42 protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in response to laminar fluid shear stress	IEA Inferred from Electronic Annotation more info
involved_in response to laminar fluid shear stress	ISO Inferred from Sequence Orthology more info
involved_in response to vitamin B3	IEA Inferred from Electronic Annotation more info
involved_in reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in reverse cholesterol transport	ISO Inferred from Sequence Orthology more info
involved_in signal release	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal release	ISO Inferred from Sequence Orthology more info
involved_in sphingolipid translocation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in basolateral plasma membrane	IEA Inferred from Electronic Annotation more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in endocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular vesicle	ISO Inferred from Sequence Orthology more info
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: phospholipid-transporting ATPase ABCA1

Names: ATP-binding cassette 1; ATP-binding cassette transporter 1; ATP-binding cassette, sub-family A (ABC1), member 1

NP_038482.3

EC 7.6.2.1

XP_006537617.1

EC 7.6.2.1

XP_006537619.1

EC 7.6.2.1

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.

mRNA and Protein(s)

NM_013454.3 → NP_038482.3 phospholipid-transporting ATPase ABCA1

See identical proteins and their annotated locations for NP_038482.3

Status: VALIDATED

Source sequence(s)

AK019548, AK045442, AK051920, AL772397, AL807243, BP761367, CD351490, CD351847, CF734665, CF745062, CN702062

Consensus CDS

CCDS18187.1

UniProtKB/Swiss-Prot

B1AWZ8, P41233

Related

ENSMUSP00000030010.4, ENSMUST00000030010.4

Conserved Domains (1) summary

TIGR01257
Location:6 → 2236

rim_protein; retinal-specific rim ABC transporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

53030789..53159988 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006537556.1 → XP_006537619.1 phospholipid-transporting ATPase ABCA1 isoform X2

Conserved Domains (1) summary

TIGR01257
Location:6 → 2213

rim_protein; retinal-specific rim ABC transporter
XM_006537554.2 → XP_006537617.1 phospholipid-transporting ATPase ABCA1 isoform X1

See identical proteins and their annotated locations for XP_006537617.1

Conserved Domains (1) summary

TIGR01257
Location:6 → 2238

rim_protein; retinal-specific rim ABC transporter