Syne1 - spectrin repeat containing, nuclear envelope 1 Gene
Also Known as 8B; CPG2; KASH1; Myne1; myne-1; mKIAA1756; A330049M09Rik; C130039F11Rik
Species: Mus musculus
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 |
| Molecular Function GO Annotation | Evidence | References | 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 | References | 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 | References | Source |
|---|---|---|---|
| located in nuclear envelope |
IDA
IDA: Inferred from direct assay
|
10878022 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nesprin-1 |
|
|