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MIRAGE
spectrin repeat containing nuclear envelope protein 1
Summary
- Gene Symbol
-
- SYNE1
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Actin-binding
- Alternative splicing
- Coiled coil
- Cytoskeleton
- Disease variant
- Disulfide bond
- Emery-Dreifuss muscular dystrophy
- Golgi apparatus
- Neurodegeneration
- Nucleus
- Phosphoprotein
- Proteomics identification
- Reference proteome
- Repeat
- Spermatogenesis
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| B7Z9Y6 |
|
| B4E3R1 |
|
| A0A0C4DG40 |
|
| F8WAI0 |
|
| Q8NF91 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of mesenchymal cell proliferation | ||
| nucleus organization | ||
| Golgi organization | ||
| spermatogenesis | ||
| response to light stimulus |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| midbody | ||
| nuclear membrane | ||
| meiotic nuclear membrane microtubule tethering complex | ||
| dendritic spine head | ||
| postsynaptic membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| enzyme binding | ||
| identical protein binding | ||
| protein homodimerization activity | ||
| actin filament binding | ||
| cytoskeleton-nuclear membrane anchor activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- alpha-actinin A
- Functional Category
-
- E: Amino acid transport and metabolism
- O: Posttranslational modification, protein turnover, chaperones
- T: Signal transduction mechanisms
| InterPro |
|---|
| Calponin homology domain |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050753 | cerebellar ataxia | |
| DOID:0070249 | autosomal dominant Emery-Dreifuss muscular dystrophy 4 | |
| DOID:0080954 | arthrogryposis multiplex congenita | |
| DOID:0080979 | arthrogryposis multiplex congenita-3 | |
| DOID:0111618 | autosomal recessive spinocerebellar ataxia 8 | |
| DOID:3312 | bipolar disorder | |
| DOID:9884 | muscular dystrophy |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 23224 | FB:FBgn0261836 | ||
| 23345 | Xenbase:XB-GENE-5956642 | ||
| 64009 | Xenbase:XB-GENE-5956642 | ||
| 319565 | FB:FBgn0261836 | ||
| 3771968 | ZFIN:ZDB-GENE-071218-4 | ||
| 100073483 | ORNAN16410 | ||
| 100386277 | CALJA31064 | ||
| 100445190 | PONAB32231 | ||
| 100580981 | NOMLE27328 | ||
| 101019502 | PAPAN35506 |
