1. Gene
  2. Syne1 - spectrin repeat containing, nuclear envelope 1 Gene

Syne1 - spectrin repeat containing, nuclear envelope 1 Gene

Mus musculus

Also known as 8B; CPG2; KASH1; Myne1; myne-1; mKIAA1756; A330049M09Rik; C130039F11Rik

Gene ID: 64009 | Gene type: protein coding

About Syne1

Summary

Enables actin filament binding activity and protein homodimerization activity. Involved in centrosome localization and regulation of cilium assembly. Acts upstream of or within nuclear migration. Located in nuclear envelope. Is expressed in several structures, including alimentary system; ear; genitourinary system; musculoskeletal system; and nervous system. Used to study Emery-Dreifuss muscular dystrophy. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita (multiple); bipolar disorder; cerebellar ataxia (multiple); and muscular dystrophy (multiple). Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1). [provided by Alliance of Genome Resources, Apr 2022]

Syne1 Products(5)

mRNA Protein Name
NM_001079686.1 NP_001073154.1 nesprin-1 isoform 3
NM_001347711.1 NP_001334640.1 nesprin-1 isoform 4
NM_001347732.1 NP_001334661.1 nesprin-1 isoform 5
NM_022027.2 NP_071310.2 nesprin-1 isoform 2
NM_153399.2 NP_700448.2 nesprin-1 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables actin filament binding IMP
IMP: Inferred from mutant phenotype
22518138 MGI
enables identical protein binding IPI
IPI: Inferred from physical interaction
22518138 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
10878022 MGI
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
22518138 MGI
Biological Process GO Annotation Evidence Reference Source
involved in centrosome localization IMP
IMP: Inferred from mutant phenotype
19596800 MGI
acts upstream of or within nuclear migration IMP
IMP: Inferred from mutant phenotype
17267447 MGI
involved in regulation of cilium assembly IMP
IMP: Inferred from mutant phenotype
19596800 MGI
Cellular Component GO Annotation Evidence Reference Source
located in nuclear envelope IDA
IDA: Inferred from direct assay
10878022 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

nesprin-1

KASH domain-containing protein 1

enaptin

enaptin165

myocyte nuclear envelope protein 1

nesprin 1

nuclear envelope spectrin repeat protein 1

synaptic nuclear envelope 1

synaptic nuclear envelope protein 1

Orthologs Information

Species Symbol Source ID
Homo sapiens Syne1 NCBI NCBI:23345