ENSMUSG00000050296


Mus musculus

Features
Gene ID: ENSMUSG00000050296
  
Biological name :Abca12
  
Synonyms : Abca12 / ATP-binding cassette, sub-family A (ABC1), member 12
  
Possible biological names infered from orthology : ATP binding cassette subfamily A member 12 / Q86UK0
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C3
Gene start: 71242276
Gene end: 71414910
  
Corresponding Affymetrix probe sets: 10355343 (MoGene1.0st)   1453970_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000084523
NCBI entrez gene - 74591     See in Manteia.
MGI - MGI:2676312
RefSeq - NM_175210
RefSeq Peptide - NP_780419
swissprot - E9Q876
Ensembl - ENSMUSG00000050296
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 abca12ENSDARG00000074749Danio rerio
 ABCA12ENSGALG00000003553Gallus gallus
 ABCA12ENSG00000144452Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Abca13 / Q5SSE9 / ATP-binding cassette, sub-family A (ABC1), member 13 / Q86UQ4* / ATP binding cassette subfamily A member 13*ENSMUSG0000000466836
Abca4 / O35600 / ATP-binding cassette, sub-family A (ABC1), member 4 / P78363* / ATP binding cassette subfamily A member 4*ENSMUSG0000002812528
Abca1 / P41233 / ATP-binding cassette, sub-family A (ABC1), member 1 / O95477* / ATP binding cassette subfamily A member 1*ENSMUSG0000001524328
Abca7 / Q91V24 / ATP-binding cassette, sub-family A (ABC1), member 7 / Q8IZY2* / ATP binding cassette subfamily A member 7*ENSMUSG0000003572227
Abca2 / ATP-binding cassette, sub-family A (ABC1), member 2 / Q9BZC7* / ATP binding cassette subfamily A member 2*ENSMUSG0000002694427
Abca3 / Q8R420 / ATP-binding cassette, sub-family A (ABC1), member 3 / Q99758* / ATP binding cassette subfamily A member 3*ENSMUSG0000002413020
Abca14 / ATP-binding cassette, sub-family A (ABC1), member 14ENSMUSG0000006201719
Abca17 / E9PX95 / ATP-binding cassette, sub-family A (ABC1), member 17ENSMUSG0000003543518
Abca16 / ATP-binding cassette, sub-family A (ABC1), member 16ENSMUSG0000005190018
Abca15 / ATP-binding cassette, sub-family A (ABC1), member 15ENSMUSG0000005474618
Abca9 / Q8K449 / ATP-binding cassette, sub-family A (ABC1), member 9 / Q8IUA7* / ATP binding cassette subfamily A member 9*ENSMUSG0000004179716
Q8K440 / Abca8b / ATP-binding cassette, sub-family A (ABC1), member 8b / ABCA8* / O94911* / ATP binding cassette subfamily A member 8*ENSMUSG0000002062015
Abca8a / Q8K442 / ATP-binding cassette, sub-family A (ABC1), member 8aENSMUSG0000004182815
Abca5 / Q8K448 / ATP-binding cassette, sub-family A (ABC1), member 5 / Q8WWZ7* / ATP binding cassette subfamily A member 5*ENSMUSG0000001880015
Abca6 / Q8K441 / ATP-binding cassette, sub-family A (ABC1), member 6 / Q8N139* / ATP binding cassette subfamily A member 6*ENSMUSG0000004474914


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR017871  ABC transporter, conserved site
 IPR026082  ABC transporter A
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030371  ATP-binding cassette subfamily A member 12


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006869 lipid transport ISO
 biological_processGO:0010875 positive regulation of cholesterol efflux IEA
 biological_processGO:0030216 keratinocyte differentiation IMP
 biological_processGO:0031424 keratinization IMP
 biological_processGO:0032940 secretion by cell IEA
 biological_processGO:0033700 phospholipid efflux IEA
 biological_processGO:0035627 ceramide transport IMP
 biological_processGO:0043129 surfactant homeostasis IMP
 biological_processGO:0045055 regulated exocytosis IEA
 biological_processGO:0048286 lung alveolus development IMP
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0055088 lipid homeostasis IMP
 biological_processGO:0061436 establishment of skin barrier IMP
 biological_processGO:0072659 protein localization to plasma membrane IEA
 biological_processGO:2000010 positive regulation of protein localization to cell surface IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005743 mitochondrial inner membrane IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0097209 epidermal lamellar body IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005215 transporter activity IEA
 molecular_functionGO:0005319 lipid transporter activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0034191 apolipoprotein A-I receptor binding IEA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IBA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001179 thicker alveolar septa 
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001190 reddish skin "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [J:65038]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001191 abnormal skin condition "anomalous state of the skin" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001192 scaly skin "skin covered with shedding scales or flakes" [J:65146]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001196 shiny skin "skin with a glossy or glistening appearance" [J:56641]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001198 tight skin "skin has a taut, stretched appearance" [J:65038]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001216 abnormal epidermal layer morphology "anomalous structure or development of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0001218 thin epidermis "reduced thickness of the superficial epithelial portion of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001230 epidermal desquamation "shedding of the cuticle of the epidermis in scales or shreds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

 MP:0001231 abnormal basal cell layer morphology "structural anomaly of the deepest layer of the epidermis, which is composed of dividing stem cells and anchoring cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001238 thin epidermal spinous layer "reduced thickness of the stratum spinosum; the polyhedral cell layer" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:15108]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0001435 no suckling reflex "inability to orient and open/close mouth in sucking pattern in response to external light touching or stroking of the chin" [J:56847]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0002060 abnormal skin morphology "malformation or atypical structure of the membranous protective covering of the body" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:56777]
Show

Allelic Composition: Atp7aMo-9J/Atp7a+
Genetic Background: involves: C57BL/6J

 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: Asphtm1Jed/Asphtm1Jed
Genetic Background: involves: 129S6/SvEvTac * 129S7/SvEvBrd

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Abca12el12/Abca12+
Genetic Background: involves: 129/Sv * C57BL/6

 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0002796 impaired skin barrier function "impaired ability of the skin to regulate water loss; frequently leads to dehydration" [J:56641]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0003193 decreased cholesterol efflux "reduced level of removal of excess cholesterol from cells by an active transport pathway" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, RGD:Rat Genome Database submission]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Abca12el12/Abca12+
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0003427 parakeratosis "abnormal retention of the nuclei of the keratinocytes in the stratum corneum of the epidermis" [smb:Susan M Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0003773 everted lip "an outward turning of the inner surface of the lip" [ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0003941 abnormal skin development "anomaly in the formation of of the membranous protective covering of the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0003982 increased cholesterol level "greater than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0009431 decreased fetal weight "reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 MP:0009594 abnormal corneocyte envelope morphology "any structural or developmental anomaly of the electron-dense layer of highly transglutaminase cross-linked protein that is deposited on the inner surface of the plasma membrane of corneocytes in the outermost layers of the epidermis; a monomolecular layer of ceramides is covalently attached to the outer surface of the CE to form a hydrophobic lipid envelope that covers each corneocyte and provides continuity with the lipid matrix" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0009599 thick epidermis stratum granulosum "increased thickness of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0009608 abnormal lamellar body morphology "any structural anomaly of a membrane-bounded organelle, specialized for the storage and secretion various substances (surfactant phospholipids, glycoproteins and acid phosphates) which are arranged in the form of tightly packed, concentric, membrane sheets or lamellae" [GO:0042599]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0009674 decreased birth weight "reduction in average weight at birth compared to controls" [RGD:cur "Rat Genome Database submission"]
Show

Allelic Composition: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

 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: Raxey1/Raxey1
Genetic Background: involves: ZRDCT/Ch

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

Allelic Composition: Abca12el12/Abca12el12
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Atp1a1Gt(OST31117)Lex/Atp1a1Gt(OST31117)Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

  


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






 

1 s.

 
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