Basic Information

Symbol
SYNE1
RNA class
mRNA
Alias
Spectrin Repeat Containing Nuclear Envelope Protein 1 Nesprin-1 Enaptin MYNE1 Myocyte Nuclear Envelope Protein 1 KIAA0796 DJ45H2.2 C6orf98 SCAR8 ARCA1 Nesp1 CPG2 8B Spectrin Repeat Containing, Nuclear Envelope 1 Synaptic Nuclear Envelope Protein 1 KASH Domain-Containing Protein 1 SYNE-1B KASH1 Nuclear Envelope Spectrin Repeat Protein 1 Nuclear Envelope Spectrin Repeat-1 Chromosome 6 Open Reading Frame 98 Synaptic Nuclei Expressed Gene 1 CPG2 Full Length EC 4.2.1.49 EC 4.3.1.3 Nesprin 1 KIAA1262 KIAA1756 Myne-1 Syne-1 EDMD4 AMC3 AMCM
Location (GRCh38)
6:152121687-152637801
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden unexpected death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_182961.4
Sequence length
27708.0 nt
GC content
0.4684

Transcripts

ID Sequence Length GC content
NM_001347701.2 NCBI
AUUGUAAAAGUCAAAACUUGAGUUCAACAUAACAUUAUCCCUACUAAGG… 3921 nt 0.4907
NM_001347702.2 NCBI
ACAGUGAGCAUUUUCAUACUUCUAUACACAGACAAGGGGAAACUUUCAU… 3785 nt 0.4975
NM_033071.5 NCBI
GUGGGCGAGCCAGCCAGGGUGAGCGCGGGCGCCGGGCCGCGGCCGCCGG… 27475 nt 0.4676
NM_182961.4 NCBI
AGGACAGCGCAGCUCCUCCAGGCAGCGGAGGCAGCGCGUCCCGGCUCUC… 27708 nt 0.4684
Summary

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]

Forensic Context

A study in humans demonstrated that the SYNE1 gene, encoding nesprin 1, is decreased in EC-general capillary, EC-KCNIP4, and EC-angiogenic endothelial cells in ischemic cardiomyopathy (ICM) compared to non-failing controls [Simonson et al. DOI:10.1016/j.celrep.2023.112086]. A separate forensic investigation in humans prioritized the SYNE1 as a sudden unexplained death (SUD) susceptibility gene and characterized its post-mortem RNA degradation pattern in left ventricle tissue, where it showed significant expression differences between adjacent age groups [Shen et al. DOI:10.1007/s00414-025-03575-2].