ENSMUSG00000035805


Mus musculus

Features
Gene ID: ENSMUSG00000035805
  
Biological name :Mlc1
  
Synonyms : Membrane protein MLC1 / Mlc1 / Q8VHK5
  
Possible biological names infered from orthology : megalencephalic leukoencephalopathy with subcortical cysts 1 / Q15049
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: E3
Gene start: 88955884
Gene end: 88979007
  
Corresponding Affymetrix probe sets: 10431326 (MoGene1.0st)   1448139_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000047667
Ensembl peptide - ENSMUSP00000104993
NCBI entrez gene - 170790     See in Manteia.
MGI - MGI:2157910
RefSeq - XM_011245483
RefSeq - NM_133241
RefSeq - XM_006520544
RefSeq - XM_006520545
RefSeq Peptide - NP_573504
swissprot - E9QP87
swissprot - Q8VHK5
Ensembl - ENSMUSG00000035805
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mlc1ENSDARG00000063026Danio rerio
 MLC1ENSGALG00000040038Gallus gallus
 MLC1ENSG00000100427Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR033280  Membrane protein MLC1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0032388 positive regulation of intracellular transport IEA
 biological_processGO:0047484 regulation of response to osmotic stress IEA
 biological_processGO:0051259 protein complex oligomerization IEA
 biological_processGO:0071397 cellular response to cholesterol IEA
 biological_processGO:0072584 caveolin-mediated endocytosis IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005901 caveola IEA
 cellular_componentGO:0005911 cell-cell junction ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0055037 recycling endosome IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008565 protein transporter activity IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [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: Mlc1tm1Rhn/Mlc1tm1Rhn
Genetic Background: 129S6/SvEvTac-Mlc1tm1Rhn

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Fgf10tm1Wss/Fgf10+
Genetic Background: involves: 129X1/SvJ

 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: Mlc1tm1Rhn/Mlc1tm1Rhn
Genetic Background: 129S6/SvEvTac-Mlc1tm1Rhn

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Fgf10tm1Wss/Fgf10+
Genetic Background: involves: 129X1/SvJ

 MP:0002059 abnormal seminal gland morphology "anomalous structure of one of the two folded, sac shaped, glands that is a diverticulum of the ductus deferens " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Memo1tm1b(EUCOMM)Wtsi/Memo1+
Genetic Background: C57BL/6N-Memo1tm1b(EUCOMM)Wtsi/Bay

 MP:0002176 high brain weight "greater than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Acot13tm1Deco/Acot13tm1Deco
Genetic Background: Not Specified

 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: Fgf10tm1Wss/Fgf10+
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Mlc1tm1.1Rhn/Mlc1tm1.1Rhn,Tg(Mlc1-tTA)#Rhn/0
Genetic Background: 129S6.Cg-Mlc1tm1.1Rhn Tg(Mlc1-tTA)#Rhn

Allelic Composition: Mlc1tm1.1Vdk/Mlc1tm1.1Vdk
Genetic Background: involves: C57BL/6

 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: Mlc1tm1.1Rhn/Mlc1tm1.1Rhn,Tg(Mlc1-tTA)#Rhn/0
Genetic Background: 129S6.Cg-Mlc1tm1.1Rhn Tg(Mlc1-tTA)#Rhn

 MP:0003690 abnormal glial cell physiology "anomalous function 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: Adamts6b2b2966.2Clo/Adamts6b2b2966.2Clo
Genetic Background: C57BL/6J-Adamts6b2b2966.2Clo

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Adamts6b2b2966.2Clo/Adamts6b2b2966.2Clo
Genetic Background: C57BL/6J-Adamts6b2b2966.2Clo

Allelic Composition: Mlc1tm1Rhn/Mlc1tm1Rhn
Genetic Background: 129S6/SvEvTac-Mlc1tm1Rhn

Allelic Composition: Mlc1tm1.1Rhn/Mlc1tm1.1Rhn,Tg(Mlc1-tTA)#Rhn/0
Genetic Background: 129S6.Cg-Mlc1tm1.1Rhn Tg(Mlc1-tTA)#Rhn

Allelic Composition: Mlc1tm1.1Vdk/Mlc1tm1.1Vdk
Genetic Background: involves: C57BL/6

 MP:0005238 increased brain size "larger than the normal physical proportions of the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57958]
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Allelic Composition: Mlc1tm1.1Vdk/Mlc1tm1.1Vdk
Genetic Background: involves: C57BL/6

 MP:0008025 brain vacuoles "the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Adamts6b2b2966.2Clo/Adamts6b2b2966.2Clo
Genetic Background: C57BL/6J-Adamts6b2b2966.2Clo

Allelic Composition: Mlc1tm1Rhn/Mlc1tm1Rhn
Genetic Background: 129S6/SvEvTac-Mlc1tm1Rhn

Allelic Composition: Mlc1tm1.1Rhn/Mlc1tm1.1Rhn,Tg(Mlc1-tTA)#Rhn/0
Genetic Background: 129S6.Cg-Mlc1tm1.1Rhn Tg(Mlc1-tTA)#Rhn

Allelic Composition: Mlc1tm1.1Vdk/Mlc1tm1.1Vdk
Genetic Background: involves: C57BL/6

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mlc1tm1Rhn/Mlc1tm1Rhn
Genetic Background: 129S6/SvEvTac-Mlc1tm1Rhn

Allelic Composition: Mlc1tm1.1Rhn/Mlc1tm1.1Rhn,Tg(Mlc1-tTA)#Rhn/0
Genetic Background: 129S6.Cg-Mlc1tm1.1Rhn Tg(Mlc1-tTA)#Rhn

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mlc1tm1.1Rhn/Mlc1tm1.1Rhn,Tg(Mlc1-tTA)#Rhn/0
Genetic Background: 129S6.Cg-Mlc1tm1.1Rhn Tg(Mlc1-tTA)#Rhn

 MP:0008916 abnormal astrocyte physiology "any functional anomaly of one of the large neuroglia cells of nervous tissue" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mlc1tm1.1Vdk/Mlc1tm1.1Vdk
Genetic Background: involves: C57BL/6

 MP:0008917 abnormal oligodendrocyte physiology "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600]
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Allelic Composition: Adamts6b2b2966.2Clo/Adamts6b2b2966.2Clo
Genetic Background: C57BL/6J-Adamts6b2b2966.2Clo

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Memo1tm1b(EUCOMM)Wtsi/Memo1+
Genetic Background: C57BL/6N-Memo1tm1b(EUCOMM)Wtsi/Bay

 MP:0011854 cerebral edema "excess accumulation of water in the intra- and/or extracellular spaces of the brain" [MGI:anna]
Show

Allelic Composition: Mlc1tm1.1Vdk/Mlc1tm1.1Vdk
Genetic Background: involves: C57BL/6

  


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






 

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