ENSMUSG00000096054


Mus musculus

Features
Gene ID: ENSMUSG00000096054
  
Biological name :Syne1
  
Synonyms : Mus musculus spectrin repeat containing, nuclear envelope 1 (Syne1), transcript variant 5, mRNA. / Q6ZWR6 / Syne1
  
Possible biological names infered from orthology : Q8NF91 / spectrin repeat containing nuclear envelope protein 1
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: A1
Gene start: 5020917
Gene end: 5551482
  
Corresponding Affymetrix probe sets: 10361381 (MoGene1.0st)   10361509 (MoGene1.0st)   1421545_a_at (Mouse Genome 430 2.0 Array)   1455225_at (Mouse Genome 430 2.0 Array)   1455493_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000039440
Ensembl peptide - ENSMUSP00000149011
Ensembl peptide - ENSMUSP00000149637
Ensembl peptide - ENSMUSP00000150262
Ensembl peptide - ENSMUSP00000093587
NCBI entrez gene - 64009     See in Manteia.
MGI - MGI:1927152
RefSeq - XM_017314048
RefSeq - XM_011243094
RefSeq - XM_011243095
RefSeq - XM_011243096
RefSeq - XM_011243097
RefSeq - XM_017314043
RefSeq - XM_017314044
RefSeq - XM_017314045
RefSeq - XM_017314046
RefSeq - XM_017314047
RefSeq - NM_001347711
RefSeq - NM_001347732
RefSeq - NM_022027
RefSeq - NM_153399
RefSeq - XM_006512458
RefSeq - XM_006512465
RefSeq - XM_011243083
RefSeq - XM_011243084
RefSeq - XM_011243086
RefSeq - XM_011243089
RefSeq - XM_011243090
RefSeq - XM_011243091
RefSeq - XM_011243092
RefSeq - XM_011243093
RefSeq Peptide - NP_001334640
RefSeq Peptide - NP_001334661
RefSeq Peptide - NP_071310
RefSeq Peptide - NP_700448
swissprot - A0A1L1STC6
swissprot - A0A1L1SRV6
swissprot - Q0VGB8
swissprot - Q6ZWR5
swissprot - Q6ZWR6
Ensembl - ENSMUSG00000096054
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 syne1aENSDARG00000009499Danio rerio
 syne1bENSDARG00000063068Danio rerio
 ENSGALG00000013505Gallus gallus
 ENSGALG00000042638Gallus gallus
 SYNE1ENSG00000131018Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Syne2 / Q6ZWQ0 / spectrin repeat containing, nuclear envelope 2 / Q8WXH0* / spectrin repeat containing nuclear envelope protein 2*ENSMUSG0000006345024
Flna / Q8BTM8 / Filamin-A / P21333*ENSMUSG0000003132812
Flnc / Q8VHX6 / Filamin-C / Q14315*ENSMUSG0000006869912
Flnb / Q80X90 / Filamin-B / O75369*ENSMUSG0000002527812
Clmn / Q8C5W0 / Calmin / Q96JQ2*ENSMUSG0000002109711


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR012315  KASH domain
 IPR018159  Spectrin/alpha-actinin
 IPR030265  Nesprin-1
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007030 Golgi organization ISO
 biological_processGO:0007097 nuclear migration IMP
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0042692 muscle cell differentiation ISO
 biological_processGO:0051642 centrosome localization IMP
 biological_processGO:0090286 cytoskeletal anchoring at nuclear membrane IEA
 biological_processGO:0090292 nuclear matrix anchoring at nuclear membrane ISO
 biological_processGO:1902017 regulation of cilium assembly IMP
 cellular_componentGO:0000932 P-body ISO
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005730 nucleolus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus ISO
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane ISO
 cellular_componentGO:0030017 sarcomere ISO
 cellular_componentGO:0031965 nuclear membrane ISO
 cellular_componentGO:0034993 meiotic nuclear membrane microtubule tethering complex IEA
 cellular_componentGO:0045211 postsynaptic membrane ISO
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005521 lamin binding ISO
 molecular_functionGO:0019899 enzyme binding ISO
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000069 kyphoscoliosis "kyphosis combined with scoliosis" [MGI:CML, J:66943]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * 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]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2tm1Rexu
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2+
Genetic Background: involves: 129 * C57BL/6

 MP:0001078 abnormal phrenic nerve "malformed or misprojection of motor and sensory neuron axons to the diaphragm and other tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2tm1Rexu
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2+
Genetic Background: involves: 129 * C57BL/6

 MP:0001177 atelectasis "collapse of the lung or any portion of the lung, or decreased or absent air in the lung, resulting in loss of lung volume " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 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: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0001443 poor grooming "below average standard of cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [MGI:CLS, J:30404]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0001852 conjunctivitis "inflammation of the mucous membrane that lines the inner surface of the eyelids" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Stk3tm1Dlim/Stk3tm1Dlim,Stk4tm1Dlim/Stk4tm1Dlim
Genetic Background: Not Specified

 MP:0002314 abnormal respiratory mechanics "anomaly in the action of the lungs, diaphragm, ribs and chest wall during respiration" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

 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]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0003111 abnormal nucleus morphology "abnormalities in the nucleus and/or its surrounding membrane" [J:91473, smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 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]
Show

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0003222 increased cardiomyocyte apoptosis "increase in the number of cardiac muscle cells undergoing programmed cell death" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 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]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0003641 small lung "reduced size of the lung relative to normal" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95332]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 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]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Terttm1Yjc/Terttm1Yjc
Genetic Background: involves: 129/Sv * C57BL/6 * SJL * SPRET/Ei

 MP:0004857 abnormal heart weight "anomaly in the average weight of the heart compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne1tm1Chen/Syne1tm1Chen,Syne2tm1.1Chen/Syne2tm1.1Chen,Tg(Nkx2-5-cre)9Eno/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fmr1tm1Cgr/Y,Tg(ACTB-Eif4e)#Ppp/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005333 decreased heart rate "fewer than average resting heart beats per minute" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84764]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 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"]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 MP:0009434 paraparesis "a weakness affecting lower limbs" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 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"]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 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"]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

 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: Syne1tm1Rexu/Syne1tm1Rexu,Syne2tm1Rexu/Syne2tm1Rexu
Genetic Background: involves: 129 * C57BL/6

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Abca12tm1Lex/Abca12tm1Lex
Genetic Background: involves: 129S/SvEvBrd * C57BL/6J

 MP:0012106 impaired exercise endurance "impaired performance during controlled physical activity" [MGI:smb]
Show

Allelic Composition: Syne1tm1.1Chen/Syne1tm1.1Chen
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * Black Swiss

  


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






 

0 s.

 
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