ENSMUSG00000028125


Mus musculus

Features
Gene ID: ENSMUSG00000028125
  
Biological name :Abca4
  
Synonyms : Abca4 / ATP-binding cassette, sub-family A (ABC1), member 4 / O35600
  
Possible biological names infered from orthology : ATP binding cassette subfamily A member 4 / P78363
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: G1
Gene start: 122044443
Gene end: 122180123
  
Corresponding Affymetrix probe sets: 10495712 (MoGene1.0st)   1449588_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000013995
Ensembl peptide - ENSMUSP00000143560
NCBI entrez gene - 11304     See in Manteia.
MGI - MGI:109424
RefSeq - XM_017319440
RefSeq - NM_007378
RefSeq - XM_006500911
RefSeq - XM_006500912
RefSeq - XM_017319439
RefSeq Peptide - NP_031404
swissprot - O35600
swissprot - A0A0G2JGG8
Ensembl - ENSMUSG00000028125
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 abca4aENSDARG00000057169Danio rerio
 abca4bENSDARG00000062661Danio rerio
 ABCA4ENSGALG00000005752Gallus gallus
 ABCA4ENSG00000198691Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Abca1 / P41233 / ATP-binding cassette, sub-family A (ABC1), member 1 / O95477* / ATP binding cassette subfamily A member 1*ENSMUSG0000001524349
Abca7 / Q91V24 / ATP-binding cassette, sub-family A (ABC1), member 7 / Q8IZY2* / ATP binding cassette subfamily A member 7*ENSMUSG0000003572243
Abca2 / ATP-binding cassette, sub-family A (ABC1), member 2 / Q9BZC7* / ATP binding cassette subfamily A member 2*ENSMUSG0000002694438
Abca12 / ATP-binding cassette, sub-family A (ABC1), member 12 / Q86UK0* / ATP binding cassette subfamily A member 12*ENSMUSG0000005029632
Abca13 / Q5SSE9 / ATP-binding cassette, sub-family A (ABC1), member 13 / Q86UQ4* / ATP binding cassette subfamily A member 13*ENSMUSG0000000466831
Abca3 / Q8R420 / ATP-binding cassette, sub-family A (ABC1), member 3 / Q99758* / ATP binding cassette subfamily A member 3*ENSMUSG0000002413027
Abca15 / ATP-binding cassette, sub-family A (ABC1), member 15ENSMUSG0000005474624
Abca16 / ATP-binding cassette, sub-family A (ABC1), member 16ENSMUSG0000005190023
Abca14 / ATP-binding cassette, sub-family A (ABC1), member 14ENSMUSG0000006201723
Abca17 / E9PX95 / ATP-binding cassette, sub-family A (ABC1), member 17ENSMUSG0000003543523
Abca9 / Q8K449 / ATP-binding cassette, sub-family A (ABC1), member 9 / Q8IUA7* / ATP binding cassette subfamily A member 9*ENSMUSG0000004179719
Abca8a / Q8K442 / ATP-binding cassette, sub-family A (ABC1), member 8aENSMUSG0000004182819
Q8K440 / Abca8b / ATP-binding cassette, sub-family A (ABC1), member 8b / ABCA8* / O94911* / ATP binding cassette subfamily A member 8*ENSMUSG0000002062018
Abca5 / Q8K448 / ATP-binding cassette, sub-family A (ABC1), member 5 / Q8WWZ7* / ATP binding cassette subfamily A member 5*ENSMUSG0000001880018
Abca6 / Q8K441 / ATP-binding cassette, sub-family A (ABC1), member 6 / Q8N139* / ATP binding cassette subfamily A member 6*ENSMUSG0000004474917


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR005951  Retinal-specific ATP-binding cassette transporter
 IPR017871  ABC transporter, conserved site
 IPR026082  ABC transporter A
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006649 phospholipid transfer to membrane IMP
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0045332 phospholipid translocation IEA
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0001750 photoreceptor outer segment IDA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004012 phospholipid-translocating ATPase activity IMP
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005548 phospholipid transporter activity IMP
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA
 molecular_functionGO:0090555 phosphatidylethanolamine-translocating ATPase activity IEA


Pathways (from Reactome)
Pathway description
The canonical retinoid cycle in rods (twilight vision)
ABC-family proteins mediated transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Myo5ad-15H/Myo5ad-15H
Genetic Background: Not Specified

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Myo5ad-15H/Myo5ad-15H
Genetic Background: Not Specified

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Myo5ad-15H/Myo5ad-15H
Genetic Background: Not Specified

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Abca4tm1.1Rsmy/Abca4tm1.1Rsmy
Genetic Background: involves: C57BL/6

 MP:0003011 delayed dark adaptation "increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights" [J:68444, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vdac1tm1Wjc/Vdac1tm1Wjc
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Vdac1tm1Wjc/Vdac1tm1Wjc
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

Allelic Composition: Abca4tm2.1Kpal/Abca4tm2.1Kpal,Gnat1tm1Clma/Gnat1tm1Clma
Genetic Background: involves: 129 * C57BL/6 * C57BL/6N

 MP:0004609 vertebral fusion "the union of one or more vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1Rdp/Cdkn2atm1Rdp,Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+,Ptentm1Rdp/Ptentm1Rdp,Tg(tetO-BRAF*V600E)29Lc/0,Tg(Tyr-cre/ERT2)13Bos/0
Genetic Background: involves: 129/Sv * C57BL/6J * FVB * SJL

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo5ad-15H/Myo5ad-15H
Genetic Background: Not Specified

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Vdac1tm1Wjc/Vdac1tm1Wjc
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

Allelic Composition: Abca4tm1.1Rsmy/Abca4tm1.1Rsmy
Genetic Background: involves: C57BL/6

 MP:0005239 abnormal Bruch membrane morphology "anomalous structure of the transparent, nearly structureless inner layer of the choroid in contact with the pigmented layer of the retina" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vdac1tm1Wjc/Vdac1tm1Wjc
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Vdac1tm1Wjc/Vdac1tm1Wjc
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abca4tm1.1Rsmy/Abca4tm1.1Rsmy
Genetic Background: involves: C57BL/6

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0005561 increased mean corpuscular hemoglobin "greater than the average levels of hemoglobin contained in an erythrocyte" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Magel2tm1Stw/Magel2tm1Stw
Genetic Background: C57BL/6-Magel2tm1Stw/J

 MP:0006187 retinal deposits "abnormal accumulation of material on the retina" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0008075 decreased CD4-positive T cell number "reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cdkn2atm1Rdp/Cdkn2atm1Rdp,Gt(ROSA)26Sortm1(rtTA,EGFP)Nagy/Gt(ROSA)26Sor+,Ptentm1Rdp/Ptentm1Rdp,Tg(tetO-BRAF*V600E)29Lc/0,Tg(Tyr-cre/ERT2)13Bos/0
Genetic Background: involves: 129/Sv * C57BL/6J * FVB * SJL

 MP:0008446 decreased retinal cone cell number "reduced number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vdac1tm1Wjc/Vdac1tm1Wjc
Genetic Background: involves: 129S7/SvEvBrd

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght
Genetic Background: involves: 129S4/SvJae * BALB/c

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght
Genetic Background: involves: 129S4/SvJae * BALB/c

 MP:0008842 lipofuscinosis "storage in organs of brownish fatty pigment resulting from the breakdown and absorption of damaged blood cells" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmnatm10Lgf/Lmnatm10Lgf,Zmpste24tm1Sgy/Zmpste24tm1Sgy
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

Allelic Composition: Abca4tm2.1Kpal/Abca4tm2.1Kpal,Gnat1tm1Clma/Gnat1tm1Clma
Genetic Background: involves: 129 * C57BL/6 * C57BL/6N

 MP:0008852 retinal neovascularization "formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina" [MESH:C11.768.725]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght,Rdh8tm1Kpal/Rdh8tm1Kpal
Genetic Background: involves: 129 * 129S4/SvJae

 MP:0011232 abnormal vitamin A level "any anomaly in the concentration of any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet" [GO:0035238]
Show

Allelic Composition: Abca4tm1Ght/Abca4tm1Ght
Genetic Background: involves: 129S4/SvJae

  


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






 

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