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Abca3 ATP-binding cassette, sub-family A (ABC1), member 3 [ Mus musculus (house mouse) ]

Gene ID: 27410, updated on 26-Sep-2022

Summary

Official Symbol
Abca3provided by MGI
Official Full Name
ATP-binding cassette, sub-family A (ABC1), member 3provided by MGI
Primary source
MGI:MGI:1351617
See related
Ensembl:ENSMUSG00000024130 AllianceGenome:MGI:1351617
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
Abc3; ABC-C; 1810036E22Rik
Summary
Predicted to enable ABC-type xenobiotic transporter activity; phosphatidylcholine flippase activity; and phosphatidylcholine transfer activity. Involved in several processes, including glycerophospholipid metabolic process; phospholipid homeostasis; and surfactant homeostasis. Located in alveolar lamellar body membrane. Is expressed in several structures, including cardiovascular system; genitourinary system; gut; nervous system; and respiratory system. Used to study pulmonary alveolar proteinosis. Human ortholog(s) of this gene implicated in pulmonary alveolar proteinosis. Orthologous to human ABCA3 (ATP binding cassette subfamily A member 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 96.1), kidney adult (RPKM 80.2) and 24 other tissues See more
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Genomic context

See Abca3 in Genome Data Viewer
Location:
17; 17 A3.3
Exon count:
34
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (24570997..24629178)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (24351921..24410204)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene cyclin F Neighboring gene microRNA 6965 Neighboring gene ATP-binding cassette, sub-family A (ABC1), member 17 Neighboring gene predicted gene, 25618 Neighboring gene RIKEN cDNA D330041H03 gene Neighboring gene RNA binding protein with serine rich domain 1 Neighboring gene enoyl-Coenzyme A delta isomerase 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)
  • Gene trapped (1) 
  • Targeted (8)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC90532

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ABC-type xenobiotic transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity 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 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 flippase activity ISO
Inferred from Sequence Orthology
more info
 
enables phosphatidylcholine transfer activity ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in organelle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphatidylcholine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phosphatidylcholine metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in phosphatidylglycerol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phospholipid homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in phospholipid transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cholesterol efflux ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of phospholipid efflux ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of phospholipid transport ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein homooligomerization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of lipid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of lipid transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of phosphatidylcholine metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in surfactant homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within transport ISO
Inferred from Sequence Orthology
more info
 
involved_in xenobiotic export from cell ISO
Inferred from Sequence Orthology
more info
 
involved_in xenobiotic transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in xenobiotic transport ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in alveolar lamellar body ISO
Inferred from Sequence Orthology
more info
 
located_in alveolar lamellar body membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in alveolar lamellar body membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lamellar body ISO
Inferred from Sequence Orthology
more info
 
located_in lamellar body membrane ISO
Inferred from Sequence Orthology
more info
 
located_in late endosome ISO
Inferred from Sequence Orthology
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
phospholipid-transporting ATPase ABCA3; ATP-binding cassette sub-family A member 3
Names
xenobiotic-transporting ATPase ABCA3
NP_001034670.1
NP_038883.2
XP_006524433.1

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_001039581.2NP_001034670.1  phospholipid-transporting ATPase ABCA3

    See identical proteins and their annotated locations for NP_001034670.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC117577, BC020183, BC079617, CJ102288, CV784401, CX563731
    Consensus CDS
    CCDS37486.1
    UniProtKB/Swiss-Prot
    Q3U3L4, Q8R420
    UniProtKB/TrEMBL
    Q6AXE3
    Related
    ENSMUSP00000078544.6, ENSMUST00000079594.12
    Conserved Domains (1) summary
    TIGR01257
    Location:2061699
    rim_protein; retinal-specific rim ABC transporter
  2. NM_013855.3NP_038883.2  phospholipid-transporting ATPase ABCA3

    See identical proteins and their annotated locations for NP_038883.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC117577, AK165458, BC020183, BC079617, CV784401, CX563731
    Consensus CDS
    CCDS37486.1
    UniProtKB/Swiss-Prot
    Q3U3L4, Q8R420
    UniProtKB/TrEMBL
    Q3TN91, Q6AXE3
    Related
    ENSMUSP00000045285.9, ENSMUST00000039013.15
    Conserved Domains (1) summary
    TIGR01257
    Location:2061699
    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_000083.7 Reference GRCm39 C57BL/6J

    Range
    24570997..24629178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006524370.3XP_006524433.1  ATP-binding cassette sub-family A member 3 isoform X1

    See identical proteins and their annotated locations for XP_006524433.1

    UniProtKB/Swiss-Prot
    Q3U3L4, Q8R420
    Conserved Domains (1) summary
    TIGR01257
    Location:2061699
    rim_protein; retinal-specific rim ABC transporter

RNA

  1. XR_001782080.3 RNA Sequence