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

Chr10:5020192-5550692 bp, - strand From NCBI annotation of GRCm38   530501 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 cattle; 1 dog; 1 chicken; 1 zebrafish

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; chr6:152442819-152958534 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human SYNE1

Alleles and phenotypes

All alleles(8) : Targeted(6) Gene trapped(2)
 

Mice homozygous for an allele lacking the KASH domain exhibit neonatal and postnatal lethality, progressive muscular dystrophy, and limb weakness.

 
Human Diseases Modeled Using Mouse Syne1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (35 annotations)

Process	cytoskeletal anchoring at nuclear membrane, establishment of nucleus localization, ...
Component	cytoplasm, cytoskeleton, ...
Function	actin binding, enzyme binding, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (95)    Tissues (95)    Images (14)
Theiler Stages: 22, 23

Assay Type	Results
RNA in situ	95

cDNA source data(49)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(50) cDNA(49) Primer pair(1)
Microarray probesets(7)

Other database links

Ensembl Gene Model	ENSMUSG00000019769 (Evidence), ENSMUSG00000096054 (Evidence)
Entrez Gene	64009 (Evidence)
UniGene	331626
DoTS	DT.101709129, DT.110605094, DT.40134247, DT.489673, DT.60108565, DT.91303942, DT.91335834, DT.91432549, DT.91563511, DT.97386325
NIA Mouse Gene Index	U031496, U323448
Consensus CDS Project	CCDS56679.1, CCDS56680.1
International Mouse Knockout Project Status	Syne1

Sequences

Length	Strain/Species
genomic	64009	NCBI Gene Model | MGI Sequence Detail	530501	C57BL/6J
transcript	NM_001079686	RefSeq | MGI Sequence Detail	10876	C57BL/6
polypeptide	Q6ZWR6	UniProt | EBI | MGI Sequence Detail	8799	Not Applicable

All sequences(61) RefSeq(6) UniProt(10)

Polymorphisms

SNPs(2438 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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

Graphical View of Protein Domain Structure

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:192230 Razafsky D, et al., LINC complexes mediate the positioning of cone photoreceptor nuclei in mouse retina. PLoS One. 2012;7(10):e47180
All references(51)

Other accession IDs

MGI:2441878, MGI:2443486, MGI:3034487