ENSMUSG00000024130


Mus musculus

Features
Gene ID: ENSMUSG00000024130
  
Biological name :Abca3
  
Synonyms : Abca3 / ATP-binding cassette, sub-family A (ABC1), member 3 / Q8R420
  
Possible biological names infered from orthology : ATP binding cassette subfamily A member 3 / Q99758
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: A3.3
Gene start: 24351950
Gene end: 24410201
  
Corresponding Affymetrix probe sets: 10442396 (MoGene1.0st)   1425496_at (Mouse Genome 430 2.0 Array)   1451731_at (Mouse Genome 430 2.0 Array)   1451869_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000045285
Ensembl peptide - ENSMUSP00000078544
Ensembl peptide - ENSMUSP00000113538
NCBI entrez gene - 27410     See in Manteia.
MGI - MGI:1351617
RefSeq - XM_006524370
RefSeq - NM_001039581
RefSeq - NM_013855
RefSeq Peptide - NP_038883
RefSeq Peptide - NP_001034670
swissprot - Q6AXE3
swissprot - Q8R420
Ensembl - ENSMUSG00000024130
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 abca3bENSDARG00000100524Danio rerio
 ABCA3ENSGALG00000037837Gallus gallus
 ABCA3ENSG00000167972Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Abca17 / E9PX95 / ATP-binding cassette, sub-family A (ABC1), member 17ENSMUSG0000003543554
Abca15 / ATP-binding cassette, sub-family A (ABC1), member 15ENSMUSG0000005474647
Abca14 / ATP-binding cassette, sub-family A (ABC1), member 14ENSMUSG0000006201746
Abca16 / ATP-binding cassette, sub-family A (ABC1), member 16ENSMUSG0000005190045
Abca4 / O35600 / ATP-binding cassette, sub-family A (ABC1), member 4 / P78363* / ATP binding cassette subfamily A member 4*ENSMUSG0000002812536
Abca2 / ATP-binding cassette, sub-family A (ABC1), member 2 / Q9BZC7* / ATP binding cassette subfamily A member 2*ENSMUSG0000002694436
Abca1 / P41233 / ATP-binding cassette, sub-family A (ABC1), member 1 / O95477* / ATP binding cassette subfamily A member 1*ENSMUSG0000001524336
Abca7 / Q91V24 / ATP-binding cassette, sub-family A (ABC1), member 7 / Q8IZY2* / ATP binding cassette subfamily A member 7*ENSMUSG0000003572235
Abca12 / ATP-binding cassette, sub-family A (ABC1), member 12 / Q86UK0* / ATP binding cassette subfamily A member 12*ENSMUSG0000005029631
Abca13 / Q5SSE9 / ATP-binding cassette, sub-family A (ABC1), member 13 / Q86UQ4* / ATP binding cassette subfamily A member 13*ENSMUSG0000000466830
Abca9 / Q8K449 / ATP-binding cassette, sub-family A (ABC1), member 9 / Q8IUA7* / ATP binding cassette subfamily A member 9*ENSMUSG0000004179725
Q8K440 / Abca8b / ATP-binding cassette, sub-family A (ABC1), member 8b / ABCA8* / O94911* / ATP binding cassette subfamily A member 8*ENSMUSG0000002062024
Abca8a / Q8K442 / ATP-binding cassette, sub-family A (ABC1), member 8aENSMUSG0000004182824
Abca5 / Q8K448 / ATP-binding cassette, sub-family A (ABC1), member 5 / Q8WWZ7* / ATP binding cassette subfamily A member 5*ENSMUSG0000001880024
Abca6 / Q8K441 / ATP-binding cassette, sub-family A (ABC1), member 6 / Q8N139* / ATP binding cassette subfamily A member 6*ENSMUSG0000004474922


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR017871  ABC transporter, conserved site
 IPR026082  ABC transporter A
 IPR026969  ATP-binding cassette sub-family A member 3
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006869 lipid transport IBA
 biological_processGO:0051384 response to glucocorticoid IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IBA
 cellular_componentGO:0097208 alveolar lamellar body ISO
 cellular_componentGO:0097233 alveolar lamellar body membrane IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA


Pathways (from Reactome)
Pathway description
ABC transporters in lipid homeostasis
Surfactant metabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Mobq6CAST/EiJ/Mobq6CAST/EiJ
Genetic Background: B6.CAST-Mobq6CAST/EiJ

Allelic Composition: Abca3tm1Dgen/Abca3+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001179 thicker alveolar septa 
Show

Allelic Composition: Fosl2tm2.1Wag/Fosl2tm2.1Wag
Genetic Background: involves: 129P2/OlaHsd

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
Show

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

 MP:0002270 abnormal alveoli morphology "any structural anomaly of the outpouching of the respiratory system where gas exchange occurs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fosl2tm2.1Wag/Fosl2tm2.1Wag
Genetic Background: involves: 129P2/OlaHsd

 MP:0002275 abnormal type II pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0004780 abnormal surfactant secretion "anomaly in the production or release from pneumocytes of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca3tm1Dgen/Abca3tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004781 abnormal surfactant composition "anomaly in the chemical consituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0004782 abnormal surfactant physiology "anomaly in the production, composition or function of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Abca3tm1Dgen/Abca3+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0010018 lung vascular congestion "obstruction of the normal flux of blood within the blood vessel network of the lung" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010813 abnormal alveolar lamellar body morphology "any structural anomaly of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0010814 absent alveolar lamellar bodies "absence of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Dgen/Abca3tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010817 absent type I pneumocytes "absence of the flattened, branched squamous cells that covers more than 98 percent of the alveolar surface, and have thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange" [PMID:20054144]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010819 primary atelectasis "nonexpansion of the lungs after birth, seen in stillborn organisms and in live born animals that do not establish respiration" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

 MP:0010825 abnormal lung saccule morphology "any structural anomaly of the transient dilations of the developing alveolar (or transient) ducts, which transform into a transitory alveolar duct as soon as it develops further branches; the last transitory saccule formed on each pathway is a terminal saccule that develops into an alveolar sac after birth" [GO:0060430, ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010890 decreased alveolar lamellar body number "reduced number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Dgen/Abca3+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010897 abnormal bronchiole epithelium morphology "any structural anomaly of the epithelial layer of the bronchioles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010909 pulmonary alveolar hemorrhage "bleeding into the small sac-like dilations of the distal airspace of the lung" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Ptentm1Hwu/Pten+
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Abca3tm1Holz/Abca3tm1Holz
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Abca3tm1Dgen/Abca3tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Abca3tm1Dgen/Abca3tm1Dgen
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011143 thick lung-associated mesenchyme "increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development" [MGI:anna]
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Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011163 increased wet-to-dry lung weight ratio "an increase in the ratio of wet lung weight (measured immediately after lung excision) to oven-dried lung weight relative to control samples; may reflect an inability to expel remaining amniotic fluid out of the lungs during or shortly after birth, or increased fluid accumulation (pulmonary edema) and/or tissue damage after lung injury" [MGI:anna]
Show

Allelic Composition: Abca3tm1Nina/Abca3tm1Nina
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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