Tbio SYNE1 Nesprin-1

Protein Summary

Description

Multi-isomeric modular protein which forms a linking network between organelles and the actin cytoskeleton to maintain the subcellular spatial organization. As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nucleus-centrosome attachment and nuclear migration in neural progenitors implicating LINC complex association with SUN1/2 and probably association with cytoplasmic dynein-dynactin motor complexes; SYNE1 and SYNE2 may act redundantly. Required for centrosome migration to the apical cell surface during early ciliogenesis. May be involved in nuclear remodeling during sperm head formation in spermatogenenis; a probable SUN3:SYNE1/KASH1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette. This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q8NF91
• B3W695
• E7EQI5
• H0Y4C0
• O94890
• Q3ZCV0
• Q5JV19
• Q5JV22
• Q8N9P7
• Q8TCP1
• Q8WWW6
• Q8WWW7
• Q8WXF6
• Q96N17
• Q9C0A7
• Q9H525
• Q9H526
• Q9NS36
• Q9NU50
• Q9UJ06
• Q9UJ07
• Q9ULF8

Gene Name

• SYNE1

Ensembl ID

• ENST00000367253
• ENSP00000356222
• ENSG00000131018
• ENST00000367255
• ENSP00000356224
• ENST00000413186
• ENSP00000414510

Symbol

• C6orf98
• KIAA0796
• KIAA1262
• KIAA1756
• MYNE1
• 8B
• CPG2
• ARCA1
• EDMD4
• KASH1
• MYNE1
• Nesp1
• SCAR8
• C6orf98
• dJ45H2.2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
trait	1
interacting protein	0.99
cellular component	0.97
transcription factor perturbation	0.91
protein domain	0.85

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 353.44   (req: < 5)

Gene RIFs: 58   (req: <= 3)

Antibodies: 122   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 353.44   (req: >= 5)

Gene RIFs: 58   (req: > 3)

Antibodies: 122   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0