ENSMUSG00000027763


Mus musculus

Features
Gene ID: ENSMUSG00000027763
  
Biological name :Mbnl1
  
Synonyms : Mbnl1 / Muscleblind-like protein 1 / Q9JKP5
  
Possible biological names infered from orthology : muscleblind like splicing regulator 1 / Q9NR56
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: D
Gene start: 60472830
Gene end: 60629750
  
Corresponding Affymetrix probe sets: 10492310 (MoGene1.0st)   1416904_at (Mouse Genome 430 2.0 Array)   1440315_at (Mouse Genome 430 2.0 Array)   1457924_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000141576
Ensembl peptide - ENSMUSP00000141536
Ensembl peptide - ENSMUSP00000141848
Ensembl peptide - ENSMUSP00000142095
Ensembl peptide - ENSMUSP00000142088
Ensembl peptide - ENSMUSP00000142074
Ensembl peptide - ENSMUSP00000142057
Ensembl peptide - ENSMUSP00000142045
Ensembl peptide - ENSMUSP00000141984
Ensembl peptide - ENSMUSP00000141954
Ensembl peptide - ENSMUSP00000141915
Ensembl peptide - ENSMUSP00000096686
Ensembl peptide - ENSMUSP00000141287
Ensembl peptide - ENSMUSP00000141474
NCBI entrez gene - 56758     See in Manteia.
MGI - MGI:1928482
RefSeq - XM_017319668
RefSeq - XM_006501784
RefSeq - XM_006501786
RefSeq - XM_006501787
RefSeq - XM_006501788
RefSeq - XM_006501789
RefSeq - XM_006501790
RefSeq - XM_006501791
RefSeq - XM_006501793
RefSeq - XM_006501794
RefSeq - XM_006501795
RefSeq - XM_006501796
RefSeq - XM_006501797
RefSeq - XM_006501798
RefSeq - XM_006501799
RefSeq - XM_017319661
RefSeq - XM_017319662
RefSeq - XM_017319663
RefSeq - XM_017319664
RefSeq - XM_017319665
RefSeq - XM_017319666
RefSeq - XM_017319667
RefSeq - NM_001253708
RefSeq - NM_001253709
RefSeq - NM_001253710
RefSeq - NM_001253711
RefSeq - NM_001253713
RefSeq - NM_001310514
RefSeq - NM_020007
RefSeq - XM_006501772
RefSeq - XM_006501773
RefSeq - XM_006501774
RefSeq - XM_006501775
RefSeq - XM_006501777
RefSeq - XM_006501778
RefSeq - XM_006501780
RefSeq - XM_006501781
RefSeq - XM_006501782
RefSeq - XM_006501783
RefSeq Peptide - NP_001240640
RefSeq Peptide - NP_001240642
RefSeq Peptide - NP_001297443
RefSeq Peptide - NP_064391
RefSeq Peptide - NP_001240637
RefSeq Peptide - NP_001240638
RefSeq Peptide - NP_001240639
swissprot - A0A0A6YWG1
swissprot - G3X9Q0
swissprot - A0A0A6YWB0
swissprot - Q9JKP5
swissprot - A0A0A6YVV8
swissprot - A0A0A6YXQ4
swissprot - Q3U570
swissprot - Q3U581
swissprot - A0A0A6YXP3
swissprot - A0A0A6YXL7
swissprot - A0A0A6YXG7
swissprot - A0A0A6YXE3
swissprot - A0A0A6YX59
swissprot - A0A0A6YWJ5
Ensembl - ENSMUSG00000027763
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbnl1ENSDARG00000052978Danio rerio
 MBNL1ENSGALG00000029190Gallus gallus
 MBNL1ENSG00000152601Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mbnl2 / Q8C181 / Muscleblind-like protein 2 / Q5VZF2* / muscleblind like splicing regulator 2*ENSMUSG0000002213962
Mbnl3 / Q8R003 / muscleblind like splicing factor 3 / Q9NUK0* / muscleblind like splicing regulator 3*ENSMUSG0000003610952


Protein motifs (from Interpro)
Interpro ID Name
 IPR000571  Zinc finger, CCCH-type
 IPR036855  Zinc finger, CCCH-type superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000380 alternative mRNA splicing, via spliceosome ISO
 biological_processGO:0000381 regulation of alternative mRNA splicing, via spliceosome IMP
 biological_processGO:0001701 in utero embryonic development IEP
 biological_processGO:0006376 mRNA splice site selection IMP
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0007399 nervous system development IEP
 biological_processGO:0007519 skeletal muscle tissue development IMP
 biological_processGO:0008380 RNA splicing ISO
 biological_processGO:0030326 embryonic limb morphogenesis IEP
 biological_processGO:0043484 regulation of RNA splicing ISO
 biological_processGO:0045445 myoblast differentiation IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0010494 cytoplasmic stress granule ISS
 molecular_functionGO:0001069 regulatory region RNA binding IEA
 molecular_functionGO:0003723 RNA binding ISO
 molecular_functionGO:0003725 double-stranded RNA binding ISS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * 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]
Show

Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * 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: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0003157 impaired muscle relaxation "reduced or absent ability of muscle to lengthen following contractions" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92510]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0003233 prolonged QT interval "increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time" [J:93197, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tbxas1tm1Swl/Tbxas1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6J

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009415 skeletal muscle degeneration "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 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"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0010392 prolonged QRS complex duration "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

  


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






 

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