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Syne1
Gene Detail
Symbol

Name
ID
Syne1
spectrin repeat containing, nuclear envelope 1
MGI:1927152
Synonyms
A330049M09Rik, C130039F11Rik, enaptin165, MGC:62825, nesprin-1, SYNE-1
Feature Type
protein coding gene
Genetic Map
Chromosome 10
2.01 cM, cytoband A1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr10:5020203-5550692 bp, - strand
From Ensembl annotation of GRCm38

  530490 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:52329  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Syne1

Human
homologs
Human Homolog   SYNE1, spectrin repeat containing, nuclear envelope 1
NCBI Gene ID 23345
neXtProt AC  NX_Q8NF91
Human Synonyms  8B, ARCA1, C6orf98, CPG2, dJ45H2.2, EDMD4, MYNE1, Nesp1, SCAR8
Human Chr (Location)  6q25; chr6:152121684-152637399 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human SYNE1
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(2) Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.
 
Human Diseases Modeled in Mice Using Syne1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Syne1 interacts with 465 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (39 annotations)
Process cytoskeletal anchoring at nuclear membrane, establishment of nucleus localization, ...
Component cell, cytoplasm, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (95)    Tissues (95)    Images (14)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 95
cDNA source data(49)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(50) cDNA(49) Primer pair(1)
Microarray probesets(7)
Other database
links
Ensembl Gene ModelENSMUSG00000096054 (Evidence)
Entrez Gene64009 (Evidence)
UniGene331626
DoTSDT.110605094, DT.101709129, DT.40134247, DT.60108565, DT.489673, DT.91303942, DT.91432549, DT.91335834, DT.91563511, DT.97386325
NIA Mouse Gene IndexU031496, U323448
Consensus CDS ProjectCCDS56679.1, CCDS56680.1
International Mouse Knockout Project StatusSyne1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000096054 Ensembl Gene Model | MGI Sequence Detail 530490 C57BL/6J ±  kb
transcript ENSMUST00000041639 Ensembl | MGI Sequence Detail 6982 Not Applicable 
polypeptide ENSMUSP00000039440 Ensembl | MGI Sequence Detail 1431 Not Applicable 

For the selected sequences
All sequences(106) RefSeq(43) UniProt(19)
Polymorphisms
SNPs within 2kb(3701 from dbSNP Build 137)    SNPs within 2kb including multiple locations(3709)
Protein-related
information
ResourceIDDescription
InterPro IPR001589 Actinin-type, actin-binding, conserved site
InterPro IPR001715 Calponin homology domain
InterPro IPR012315 Klarsicht/ANC-1/syne-1 homology
InterPro IPR018159 Spectrin/alpha-actinin
InterPro IPR002017 Spectrin repeat
Protein Ontology PR:000015875 nesprin-1
References
(Earliest) J:65130 Apel ED, et al., Syne-1, A dystrophin- and klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction. J Biol Chem. 2000 Oct 13;275(41):31986-95
(Latest) J:214728 Chapman MA, et al., Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle. Hum Mol Genet. 2014 Nov 15;23(22):5879-92
All references(53)
Disease annotation references (1)
Other
accession IDs
MGI:2441878, MGI:2443486, MGI:3034487

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/13/2015
MGI 5.21
The Jackson Laboratory