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Abca1 ATP-binding cassette, sub-family A (ABC1), member 1 [ Mus musculus (house mouse) ]

Gene ID: 11303, updated on 22-May-2022

Summary

Official Symbol
Abca1provided by MGI
Official Full Name
ATP-binding cassette, sub-family A (ABC1), 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
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Genomic context

See Abca1 in Genome Data Viewer
Location:
4 B2; 4 28.57 cM
Exon count:
51
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (53043661..53172767, complement)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene nipsnap homolog 3A Neighboring gene nipsnap homolog 3B Neighboring gene predicted gene, 54225 Neighboring gene lipid responsive LXR-induced inhibitor of cholesterol synthesis 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase binding ISO
Inferred from Sequence Orthology
more info
 
enables ATPase-coupled intramembrane lipid transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables apolipoprotein A-I binding ISO
Inferred from Sequence Orthology
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 high-density lipoprotein particle binding ISO
Inferred from Sequence Orthology
more info
 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nucleotide 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
PubMed 
enables phosphatidylcholine floppase activity ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylserine floppase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
enables small GTPase binding ISO
Inferred from Sequence Orthology
more info
 
enables sphingolipid floppase activity ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
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 
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 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 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 ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular cholesterol transport ISO
Inferred from Sequence Orthology
more info
 
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
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 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 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 ISO
Inferred from Sequence Orthology
more info
 
involved_in response to laminar fluid shear stress ISO
Inferred from Sequence Orthology
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 transmembrane transport 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 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 external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
 
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
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

Preferred Names
phospholipid-transporting ATPase ABCA1
Names
ATP-binding cassette 1
ATP-binding cassette sub-family A member 1
ATP-binding cassette transporter 1
NP_038482.3
XP_006537617.1
XP_006537619.1

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)

  1. NM_013454.3NP_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
    P41233
    UniProtKB/TrEMBL
    Q8BPY1
    Related
    ENSMUSP00000030010.4, ENSMUST00000030010.4
    Conserved Domains (1) summary
    TIGR01257
    Location:62236
    rim_protein; retinal-specific rim ABC transporter

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    53030789..53159988 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    TIGR01257
    Location:62213
    rim_protein; retinal-specific rim ABC transporter
  2. XM_006537554.2XP_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:62238
    rim_protein; retinal-specific rim ABC transporter