ENSMUSG00000031378


Mus musculus

Features
Gene ID: ENSMUSG00000031378
  
Biological name :Abcd1
  
Synonyms : Abcd1 / ATP-binding cassette, sub-family D (ALD), member 1 / P48410
  
Possible biological names infered from orthology : ATP binding cassette subfamily D member 1 / P33897
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: A7.3
Gene start: 73716597
Gene end: 73738534
  
Corresponding Affymetrix probe sets: 10600235 (MoGene1.0st)   1418838_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000110105
Ensembl peptide - ENSMUSP00000002084
NCBI entrez gene - 11666     See in Manteia.
MGI - MGI:1349215
RefSeq - NM_007435
RefSeq Peptide - NP_031461
swissprot - A2ALN0
swissprot - P48410
Ensembl - ENSMUSG00000031378
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 abcd1ENSDARG00000074876Danio rerio
 ABCD1ENSG00000101986Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Abcd2 / ATP-binding cassette, sub-family D (ALD), member 2 / Q9UBJ2* / ATP binding cassette subfamily D member 2*ENSMUSG0000005578264
Abcd3 / P55096 / ATP-binding cassette, sub-family D (ALD), member 3 / P28288* / ATP binding cassette subfamily D member 3*ENSMUSG0000002812734
Abcd4 / O89016 / ATP-binding cassette, sub-family D (ALD), member 4 / O14678* / ATP binding cassette subfamily D member 4*ENSMUSG0000002124021


Protein motifs (from Interpro)
Interpro ID Name
 IPR003439  ABC transporter-like
 IPR003593  AAA+ ATPase domain
 IPR005283  Peroxysomal long chain fatty acyl transporter
 IPR011527  ABC transporter type 1, transmembrane domain
 IPR017871  ABC transporter, conserved site
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR031237  ATP-binding cassette sub-family D member 1
 IPR036640  ABC transporter type 1, transmembrane domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006635 fatty acid beta-oxidation IEA
 biological_processGO:0007031 peroxisome organization IEA
 biological_processGO:0015910 peroxisomal long-chain fatty acid import ISO
 biological_processGO:0042758 long-chain fatty acid catabolic process IEA
 biological_processGO:0042760 very long-chain fatty acid catabolic process IEA
 biological_processGO:0055085 transmembrane transport IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005777 peroxisome ISO
 cellular_componentGO:0005778 peroxisomal membrane IEA
 cellular_componentGO:0005779 integral component of peroxisomal membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005324 long-chain fatty acid transporter activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016887 ATPase activity ISO
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0042626 ATPase activity, coupled to transmembrane movement of substances IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA


Pathways (from Reactome)
Pathway description
ABC transporters in lipid homeostasis
Linoleic acid (LA) metabolism
alpha-linolenic acid (ALA) metabolism
Beta-oxidation of very long chain fatty acids


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000136 abnormal microglial cell morphology "anomalous structure, number, or composition of the small neuroglial cells, possibly of mesodermal origin, which may become phagocytic, in areas of neural damage or inflammation" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, J:71688]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0000952 abnormal CNS glia "anomalous structure, number or composition of non-neuronal cells of the central nervous system that form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0001106 abnormal Schwann cell "malformed or absent cells which form the insulating myelin sheaths of peripheral axons" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
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Allelic Composition: Zfp106tm1a(KOMP)Wtsi/Zfp106tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Zfp106tm1a(KOMP)Wtsi/Wtsi

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Zfp106tm1a(KOMP)Wtsi/Zfp106tm1a(KOMP)Wtsi
Genetic Background: B6JTyr;B6N-Zfp106tm1a(KOMP)Wtsi/Wtsi

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001846 increased inflammatory response "greater than expected response to injury, infection, or insult " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Rargtm4Ipc/Rarg+
Genetic Background: involves: 129/Sv

Allelic Composition: Abcd1tm1Kan/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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]
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Allelic Composition: Rargtm4Ipc/Rarg+
Genetic Background: involves: 129/Sv

Allelic Composition: Abcd1tm1Kan/Y
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Abcd1tm1Kds
Genetic Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6)

Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6)

Allelic Composition: Abcd1tm1Ymd/Abcd1tm1Ymd
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA/2J

Allelic Composition: Abcd1tm1Ymd/Y
Genetic Background: involves: 129S/SvEv * C57BL/6J * DBA/2J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Prkaa2tm1.1Vio/Prkaa2tm1.1Vio
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Abcd1tm1Kds/Y,Slc27a2tm1Kds/Slc27a2tm1Kds
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * C57BL/6J

Allelic Composition: Abcd1tm1a(EUCOMM)Wtsi/Y
Genetic Background: B6JTyr;B6N-Abcd1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0002182 abnormal astrocyte morphology "anomalous structure, number or compostion of one of the large neuroglia cells of nervous tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0003492 abnormal involuntary movement "anomalies in movements that occur independent of planning (eg. reflexive behavior)" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0003633 abnormal nervous system physiology 
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0005281 increased fatty acid level "higher than normal non-circulating level of organic, monobasic acids derived from hydrocarbons; they are saturated and unsaturated" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0005284 increased saturated fatty acid level "greater than normal non-circulating level of organic, monobasic acids derived from hydrocarbons in which the carbon chain contains only single carbon-carbon bonds " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Abcd1tm1Kds/Abcd1tm1Kds
Genetic Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6)

Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: either: (involves: 129S4/SvJae * C57BL/6) or (involves: 129/Sv * 129S4/SvJae * C57BL/6)

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rhotm1Jlem/Rhotm1Jlem
Genetic Background: involves: 129S4/SvJae

Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0008288 abnormal adrenal cortex morphology "any structural anomaly of the thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Abcd1tm1Kds/Y,Abcd2tm1Apuj/Abcd2tm1Apuj
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6J

 MP:0008294 abnormal zona fasciculata morphology "any structural anomaly of the wide middle zone of the adrenal cortex that produces cortisol (hydrocortisone)" [MESH:A06.407.071.140.950]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0008295 abnormal zona reticularis morphology "any structural anomaly of the inner zone of the adrenal cortex that produces the enzymes that convert pregnenolone, a 21-carbon steroid, to 19-carbon steroids" [MESH:A06.407.071.140.970]
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Allelic Composition: Abcd1tm1Kds/Y
Genetic Background: involves: 129S4/SvJae * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000055782 Abcd2 / ATP-binding cassette, sub-family D (ALD), member 2 / Q9UBJ2* / ATP binding cassette subfamily D member 2*  / complex
 ENSMUSG00000028127 Abcd3 / P55096 / ATP-binding cassette, sub-family D (ALD), member 3 / P28288* / ATP binding cassette subfamily D member 3*  / complex
 ENSMUSG00000019809 Pex3 / Q9QXY9 / Peroxisomal biosis factor 3 / P56589* / peroxisomal biogenesis factor 3*  / reaction
 ENSMUSG00000031378 Abcd1 / P48410 / ATP-binding cassette, sub-family D (ALD), member 1 / P33897* / ATP binding cassette subfamily D member 1*  / complex
 ENSMUSG00000003464 Pex19 / Q8VCI5 / Peroxisomal biosis factor 19 / P40855* / peroxisomal biogenesis factor 19*  / complex






 

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