ENSMUSG00000028649


Mus musculus

Features
Gene ID: ENSMUSG00000028649
  
Biological name :Macf1
  
Synonyms : Macf1 / microtubule-actin crosslinking factor 1
  
Possible biological names infered from orthology : Q9UPN3
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: D2.2
Gene start: 123349633
Gene end: 123684360
  
Corresponding Affymetrix probe sets: 10516103 (MoGene1.0st)   1428847_a_at (Mouse Genome 430 2.0 Array)   1428848_a_at (Mouse Genome 430 2.0 Array)   1439582_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000114568
Ensembl peptide - ENSMUSP00000153121
Ensembl peptide - ENSMUSP00000123246
Ensembl peptide - ENSMUSP00000119885
Ensembl peptide - ENSMUSP00000119600
Ensembl peptide - ENSMUSP00000117433
Ensembl peptide - ENSMUSP00000117188
Ensembl peptide - ENSMUSP00000116085
Ensembl peptide - ENSMUSP00000115847
Ensembl peptide - ENSMUSP00000080755
Ensembl peptide - ENSMUSP00000081324
Ensembl peptide - ENSMUSP00000095507
Ensembl peptide - ENSMUSP00000101819
Ensembl peptide - ENSMUSP00000101827
Ensembl peptide - ENSMUSP00000101831
NCBI entrez gene - 11426     See in Manteia.
MGI - MGI:108559
RefSeq - NM_001199136
RefSeq - NM_001199137
RefSeq - XM_017319920
RefSeq - XM_011240417
RefSeq - XM_011240418
RefSeq - XM_011240411
RefSeq - XM_011240414
RefSeq - XM_011240415
RefSeq - XM_011240416
RefSeq Peptide - NP_001186066
RefSeq Peptide - NP_001186065
swissprot - F6XCT0
swissprot - E9QNP1
swissprot - F7ACR9
swissprot - F6YKN8
swissprot - E9QA63
swissprot - E9PVY8
swissprot - B1ARU4
swissprot - B1ARU1
swissprot - A0A286YD76
swissprot - A0A0A0MQH5
swissprot - A0A0A0MQA6
swissprot - F6Q750
swissprot - F6RCJ3
swissprot - F6RL59
swissprot - F6SHS0
Ensembl - ENSMUSG00000028649
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 macf1aENSDARG00000028533Danio rerio
 MACF1ENSGALG00000003693Gallus gallus
 MACF1ENSG00000127603Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Dst / Q91ZU6 / Dystonin / Q03001*ENSMUSG0000002613144
Plec / Q9QXS1 / plectin / Q15149*ENSMUSG0000002256516
Dsp / E9Q557 / Desmoplakin / P15924*ENSMUSG000000548898
Ppl / periplakin / O60437*ENSMUSG000000394575
Evpl / Q9D952 / Envoplakin / Q92817*ENSMUSG000000342825
Eppk1 / epiplakin 1ENSMUSG000001153883


Protein motifs (from Interpro)
Interpro ID Name
 IPR001101  Plectin repeat
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR003108  GAR domain
 IPR011992  EF-hand domain pair
 IPR018159  Spectrin/alpha-actinin
 IPR018247  EF-Hand 1, calcium-binding site
 IPR030269  Plectin
 IPR035915  Plakin repeat superfamily
 IPR036534  GAR domain superfamily
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030334 regulation of cell migration IEA
 biological_processGO:0032886 regulation of microtubule-based process IEA
 biological_processGO:0043001 Golgi to plasma membrane protein transport IEA
 biological_processGO:0045773 positive regulation of axon extension IEA
 biological_processGO:0051893 regulation of focal adhesion assembly IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0051011 microtubule minus-end binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 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: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
Show

Allelic Composition: Gja1tm1.1Gfi/Gja1+
Genetic Background: Not Specified

 MP:0001693 failure of primitive streak formation "inability to form the epiblast ridge from which arises the germ layers of the embryo" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
Show

Allelic Composition: Gja1tm1.1Gfi/Gja1+
Genetic Background: Not Specified

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
Show

Allelic Composition: Gja1tm1.1Gfi/Gja1+
Genetic Background: Not Specified

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

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0002908 delayed wound healing "longer time requirement for the ability to self-repair and close wounds than normal" [J:63037]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0008221 abnormal hippocampal commissure morphology "any structural anomaly of the triangular subcallosal plate of commissural fibers resulting from the converging of the right and left fornix bundles which exchange numerous fibers and which curve back in the contralateral fornix to end in the hippocampus of the opposite side" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0008225 abnormal anterior commissure morphology "any structural anomaly of a round bundle of nerve fibers that crosses the midline of the brain near the anterior limit of the third ventricle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0008284 abnormal hippocampus pyramidal cell layer 
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0008540 abnormal cerebrum morphology "any structural anomaly of the largest part of the brain, derived from the telencephalon, and is composed of a right and a left hemisphere each which contains an outer cerebral cortex and a subcortical basal ganglia; cerebral functions include sensorimotor, emotional, and intellectual activities" [MESH:A08.186.211.730.885.287]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0010011 ectopic hippocampus pyramidal cells "the hippocampus pyramidal cell body resides in places other than the pyramidal cell layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 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: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
Show

Allelic Composition: Gja1tm1.1Gfi/Gja1+
Genetic Background: Not Specified

 MP:0012194 decreased keratinocyte migration "reduced or slower movement of keratinocyes or their precursors to the appropriate location in the body" [MGI:csmith]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

 MP:0013908 small lateral ventricles "decreased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650]
Show

Allelic Composition: Sec61a1m1Gek/Sec61a1m1Gek,Tg(Ins2-Sec61a1)#Gek/0
Genetic Background: C57BL/6-Sec61a1m1Gek Tg(Ins2-Sec61a1)#Gek

 MP:0030577 increased keratinocyte adhesion "increased ability of a keratinocyte to adhere to another cell or to a non-cellular component of the environment" [MGI:anna]
Show

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

  


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






 

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