SYNE1

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]

Description

Spectrin repeat containing nuclear envelope protein 1

Tissue specificity

Tissue enhanced (brain, choroid plexus)

Subcell location

Nucleoplasm, Nuclear membrane

Predicted location

Intracellular, Membrane

Protein family

Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (152121684 - 152637801)

Ensembl ID

ENSG00000131018  (ver. 103.38)

Orthologs

Mouse Syne1: ENSMUSG00000096054

UniProt

Q8NF91

neXtProt

NX_Q8NF91

Human splice variants
Mouse splice variants

Protein structure