Abca3
Gene Detail

Symbol Name ID

Abca3 ATP-binding cassette, sub-family A (ABC1), member 3 MGI:1351617

Synonyms

1810036E22Rik, Abc3, ABC-C

Feature Type

protein coding gene

Genetic Map

Chromosome 17

12.38 cM, cytoband A3.3
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr17:24351950-24410201 bp, + strand From VEGA annotation of GRCm38   58252 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:37437  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Abca3

Human homologs

Human Homolog		ABCA3, ATP-binding cassette, sub-family A (ABC1), member 3
NCBI Gene ID		21
neXtProt AC		NX_Q99758
Human Synonyms		ABC3, ABC-C, EST111653, LBM180, SMDP3
Human Chr (Location)		16p13.3; chr16:2325879-2390747 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ABCA3

Alleles and phenotypes

All alleles(8) : Targeted(7) Gene trapped(1)
 

Mice homozygous for a null mutation display neonatal lethality, respiratory failure, and severely impaired surfactant secretion.

 
Human Diseases Modeled Using Mouse Abca3 (1)    Alleles Annotated to Human Diseases(3)    Phenotype Images(5)

Gene Ontology (GO) classifications

All GO classifications: (15 annotations)

Process	ATP catabolic process, metabolic process, ...
Component	alveolar lamellar body, alveolar lamellar body membrane, ...
Function	ATPase activity, ATP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (13 records)
Data Summary: Results (248)    Tissues (148)    Images (23)
Theiler Stages: 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	39
RNA in situ	188
Western blot	1
RT-PCR	20

cDNA source data(157)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(159) cDNA(158) Primer pair(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000031259 (Evidence)
Ensembl Gene Model	ENSMUSG00000024130 (Evidence)
Entrez Gene	27410 (Evidence)
UniGene	239470
DFCI	TC1575156, TC1581112, TC1598784, TC1657733, TC1764774
DoTS	DT.101221466, DT.101363937, DT.101737734, DT.110560874, DT.91294834, DT.94406619, DT.97339591, DT.97362270, DT.99859980
NIA Mouse Gene Index	U017633
Consensus CDS Project	CCDS37486.1
International Mouse Knockout Project Status	Abca3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031259	VEGA Gene Model | MGI Sequence Detail	58252	C57BL/6J
transcript	OTTMUST00000077443	VEGA | MGI Sequence Detail	6476	Not Applicable
polypeptide	OTTMUSP00000040952	VEGA | MGI Sequence Detail	1704	Not Applicable

All sequences(71) RefSeq(4) UniProt(7)

Polymorphisms

SNPs(168 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003593	AAA+ ATPase domain
InterPro	IPR026082	ABC transporter A, ABCA
InterPro	IPR017871	ABC transporter, conserved site
InterPro	IPR003439	ABC transporter-like
InterPro	IPR026969	ATP-binding cassette sub-family A member 3
Protein Ontology	PR:000003541	ATP-binding cassette sub-family A member 3

References

(Earliest) J:60841 Schriml LM, et al., Identification of 18 mouse ABC genes and characterization of the ABC superfamily in Mus musculus. Genomics. 2000 Feb 15;64(1):24-31
(Latest) J:190719 Joza S, et al., Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. Am J Pathol. 2012 Dec;181(6):2003-17
All references(51)

Other accession IDs

MGI:1916408