About   Help   FAQ
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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 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; chr16:2275878-2340746 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ABCA3
Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Gene trapped(1) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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)
Interactions
Abca3 interacts with 152 markers (Mir1a-1, Mir1a-2, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (12 annotations)
Process transport
Component alveolar lamellar body, alveolar lamellar body membrane, ...
Function ATPase activity, ATP binding, ...
External Resources: FuncBase
Expression
Literature Summary: (17 records)
Data Summary: Results (248)    Tissues (148)    Images (23)
Theiler Stages: 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 39
RNA in situ 188
Western blot 1
RT-PCR 20
cDNA source data(157)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(159) cDNA(158) Primer pair(1)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000031259 (Evidence)
Ensembl Gene ModelENSMUSG00000024130 (Evidence)
Entrez Gene27410 (Evidence)
UniGene239470
DFCITC1575156, TC1581112, TC1598784, TC1657733, TC1764774
DoTSDT.101221466, DT.101363937, DT.101737734, DT.110560874, DT.91294834, DT.94406619, DT.97339591, DT.97362270, DT.99859980
NIA Mouse Gene IndexU017633
Consensus CDS ProjectCCDS37486.1
International Mouse Knockout Project StatusAbca3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031259 VEGA Gene Model | MGI Sequence Detail 58252 C57BL/6J ±  kb
transcript OTTMUST00000077443 VEGA | MGI Sequence Detail 6476 Not Applicable 
polypeptide OTTMUSP00000040952 VEGA | MGI Sequence Detail 1704 Not Applicable 

For the selected sequences
All sequences(78) RefSeq(8) UniProt(7)
Polymorphisms SNPs within 2kb(748 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR026082 ABC transporter A, ABCA
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR003959 ATPase, AAA-type, core
InterPro IPR026969 ATP-binding cassette sub-family A member 3
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
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:202949 Chang DR, et al., Lung epithelial branching program antagonizes alveolar differentiation. Proc Natl Acad Sci U S A. 2013 Nov 5;110(45):18042-51
All references(56)
Disease annotation references (3)
Other
accession IDs
MGI:1916408

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/19/2014
MGI 5.19
The Jackson Laboratory