SYNE1 (spectrin repeat containing nuclear envelope protein 1)

2008-10-01  

Identity

HGNC
LOCATION
6q25.2
LOCUSID
ALIAS
8B,AMC3,AMCM,ARCA1,C6orf98,CPG2,EDMD4,KASH1,MYNE1,Nesp1,SCAR8,dJ45H2.2
FUSION GENES

Other Information

Locus ID:

NCBI: 23345
MIM: 608441
HGNC: 17089
Ensembl: ENSG00000131018

Variants:

dbSNP: 23345
ClinVar: 23345
TCGA: ENSG00000131018
COSMIC: SYNE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131018ENST00000341594E7ENN3
ENSG00000131018ENST00000354674F8WAI0
ENSG00000131018ENST00000367248F5GXQ8
ENSG00000131018ENST00000367251H0Y325
ENSG00000131018ENST00000367253Q8NF91
ENSG00000131018ENST00000367255Q8NF91
ENSG00000131018ENST00000367257H0Y326
ENSG00000131018ENST00000413186Q8NF91
ENSG00000131018ENST00000423061A0A0C4DG40
ENSG00000131018ENST00000448038E9PEL9
ENSG00000131018ENST00000454018A0A0C4DH48
ENSG00000131018ENST00000466159F5H4Q0
ENSG00000131018ENST00000469439H0YGD3
ENSG00000131018ENST00000474655H0YFT4
ENSG00000131018ENST00000495090F5H422
ENSG00000131018ENST00000537033F5GZ83
ENSG00000131018ENST00000537750F5GYQ7
ENSG00000131018ENST00000539504Q5JV20
ENSG00000131018ENST00000540663F5H6R8
ENSG00000131018ENST00000610489A0A087WYJ5

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
MeiosisREACTOMER-HSA-1500620
Meiotic synapsisREACTOMER-HSA-1221632

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
177616842007Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.201
160792852005The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope.171
202019242010Genome-wide association study of alcohol dependence implicates a region on chromosome 11.159
226329682012LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins.154
171599802007Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.108
150937332004Enaptin, a giant actin-binding protein, is an element of the nuclear membrane and the actin cytoskeleton.89
188270152008TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.87
206558392010Actomyosin tension exerted on the nucleus through nesprin-1 connections influences endothelial cell adhesion, migration, and cyclic strain-induced reorientation.73
124089642002The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300.72
199441092010Nesprin-1 mutations in human and murine cardiomyopathy.68

Citation

Dessen P

SYNE1 (spectrin repeat containing nuclear envelope protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50407/syne1