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

Summary

Official Symbol: Abca3provided by MGI
Official Full Name: ATP-binding cassette, sub-family A 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

Location:: 17 A3.3; 17 12.38 cM

Exon count:: 34

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000083.7 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?

The common ABCA3(E292V) variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.
Title: The common ABCA3(E292V) variant disrupts AT2 cell quality control and increases susceptibility to lung injury and aberrant remodeling.
mAbca3-rNeo mice demonstrated allele-dependent susceptibility to bleomycin including enhanced weight loss, augmented airspace destruction, and increased fibrosis
Title: Aberrant lung remodeling in a mouse model of surfactant dysregulation induced by modulation of the Abca3 gene.
Abca3 haploinsufficiency results in an altered biochemical and lung mechanical phenotype, as well as a greater lung injury induced by hyperoxia or mechanical ventilation.
Title: Abca3 haploinsufficiency is a risk factor for lung injury induced by hyperoxia or mechanical ventilation in a murine model.
The majority of mice in which Abca3 was deleted in alveolar type II cells died shortly after birth from respiratory distress related to surfactant deficiency.
Title: Conditional deletion of Abca3 in alveolar type II cells alters surfactant homeostasis in newborn and adult mice.
Iportance of a functional catalytic cycle in lipid transport of ABCA3 suggestsa pathophysiological mechanism of pediatric intterstitial lung disease due to ABCA3 mutation.
Title: Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
Abca3 gene expression is mediated by discrete cis-acting cassettes that mediate pulmonary cell- and lipid-sensitive pathways regulating surfactant homeostasis.
Title: Sterol response element binding protein and thyroid transcription factor-1 (Nkx2.1) regulate Abca3 gene expression.
ABCA3 is necessary for lamellar body biogenesis, surfactant protein-B processing, and lung development late in gestation.
Title: ABCA3 is critical for lamellar body biogenesis in vivo.
showed for the first time expression and subcellular localization of abcb11 and abca3 in mouse kidney
Title: ABC transporter expression profiling after ischemic reperfusion injury in mouse kidney.
Plays an essential role in pulmonary surfactant lipid metabolism and lamellar body biogenesis, probably by transporting these lipids as substrates.
Title: ABCA3 as a lipid transporter in pulmonary surfactant biogenesis.
The phenotype of respiratory failure immediately after birth corresponds to the clinical course of severe ABCA3 mutations in human newborns.
Title: Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Gene trapped (1)
Targeted (9) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17Lon5 (e-PCR), detects polymorphism
- UniSTS:142130

28.MMHAP81FRB10.seq (e-PCR)
- UniSTS:160622

Abca3 (e-PCR), detects polymorphism
- UniSTS:502766

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
enables lipid transporter activity	IBA Inferred from Biological aspect of Ancestor more info
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
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
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

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Preferred Names: phospholipid-transporting ATPase ABCA3

Names: ATP-binding cassette, sub-family A (ABC1), member 3; xenobiotic-transporting ATPase ABCA3

NP_001034670.1

EC 7.6.2.1

EC 7.6.2.2

NP_038883.2

EC 7.6.2.1

EC 7.6.2.2

XP_006524433.1

EC 7.6.2.1

EC 7.6.2.2

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_001039581.2 → NP_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

Q80XT2

Related

ENSMUSP00000078544.6, ENSMUST00000079594.12

Conserved Domains (1) summary

TIGR01257
Location:206 → 1699

rim_protein; retinal-specific rim ABC transporter
NM_013855.3 → NP_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

Q80XT2

Related

ENSMUSP00000045285.9, ENSMUST00000039013.15

Conserved Domains (1) summary

TIGR01257
Location:206 → 1699

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_000083.7 Reference GRCm39 C57BL/6J

Range

24570997..24629178

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524370.3 → XP_006524433.1 phospholipid-transporting ATPase ABCA3 isoform X1

See identical proteins and their annotated locations for XP_006524433.1

UniProtKB/Swiss-Prot

Q3U3L4, Q8R420

UniProtKB/TrEMBL

Q80XT2

Conserved Domains (1) summary

TIGR01257
Location:206 → 1699

rim_protein; retinal-specific rim ABC transporter