SYNE1 - spectrin repeat containing nuclear envelope protein 1 Gene
Also Known as 8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
Species: Homo sapiens
About SYNE1
This gene has 51 transcripts (splice variants), 254 orthologues, 36 paralogues and is associated with 7 phenotypes. Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues.
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]
SYNE1 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001347701.2 | NP_001334630.1 | nesprin-1 isoform 3 |
| NM_001347702.2 | NP_001334631.1 | nesprin-1 isoform 4 (nesprin-1 alpha 2) |
| NM_033071.5 | NP_149062.2 | nesprin-1 isoform 2 |
| NM_182961.4 | NP_892006.3 | nesprin-1 isoform 1 (nesprin-1 giant or enaptin) |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
12408964 | GOA |
| enables cytoskeleton-nuclear membrane anchor activity |
IDA
IDA: Inferred from direct assay
|
18396275 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
24862572 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
12163176 | GOA |
| enables lamin binding |
IPI
IPI: Inferred from physical interaction
|
11801724 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12163176 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in Golgi organization |
IDA
IDA: Inferred from direct assay
|
12808039 | GOA |
| involved in muscle cell differentiation |
IDA
IDA: Inferred from direct assay
|
11792814 | GOA |
| involved in nuclear matrix anchoring at nuclear membrane |
IDA
IDA: Inferred from direct assay
|
11801724 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
12808039 | GOA |
| located in P-body |
IDA
IDA: Inferred from direct assay
|
24862572 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
11792814 | GOA |
| part of meiotic nuclear membrane microtubule tethering complex |
IDA
IDA: Inferred from direct assay
|
18396275 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
11792814 | GOA |
| located in nuclear envelope |
IDA
IDA: Inferred from direct assay
|
11792814 | GOA |
| located in nucleolus |
IDA
IDA: Inferred from direct assay
|
24862572 | GOA |
| located in postsynaptic membrane |
IDA
IDA: Inferred from direct assay
|
10878022 | GOA |
| located in sarcomere |
IDA
IDA: Inferred from direct assay
|
12408964 | GOA |
SYNE1 Protein Structure
CH: Calponin homology (CH) domain (31 - 134)
CH: Calponin homology (CH) domain (181 - 282)
Spectrin: Spectrin repeat (3175 - 3276)
Spectrin: Spectrin repeat (3817 - 3913)
Spectrin: Spectrin repeat (5739 - 5831)
Spectrin: Spectrin repeat (7024 - 7118)
Spectrin: Spectrin repeat (7140 - 7230)
Spectrin: Spectrin repeat (7353 - 7452)
Spectrin: Spectrin repeat (7783 - 7882)
Spectrin: Spectrin repeat (7887 - 7996)
Spectrin: Spectrin repeat (8110 - 8210)
Spectrin: Spectrin repeat (8440 - 8547)
KASH: Nuclear envelope localisation domain (8740 - 8796)
- 0
- 1400
- 2800
- 4200
- 5600
- 7000
- 8400
- 8797 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
nesprin-1 |
|
SYNE1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SYNE1 | Q8NF91 | SUN2 | Homo sapiens | Q9UH99 | 22632968 | |
|
Intra
|
SYNE1 | Q8NF91 | SUN2 | Homo sapiens | Q9UH99 | 22632968 | |
|
Intra
|
SYNE1 | Q8NF91 | SUN2 | Homo sapiens | Q9UH99 | 33058875 | |
|
Intra
|
SYNE1 | Q8NF91 | SUN1 | Homo sapiens | O94901 | 22632968 | |
|
Intra
|
SYNE1 | Q8NF91 | DISC1 | Homo sapiens | Q9NRI5 | 12812986 | |
|
Intra
|
SYNE1 | Q8NF91 | DISC1 | Homo sapiens | Q9NRI5 | 12812986 |
SYNE1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81624 | Nesprin1 Antibody (YA1369) | WB, IHC-F, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P81624A | Nesprin1 Antibody (YA1369)(PBS only) | WB, IHC-F, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
|
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
|
| Juvenile Amyotrophic Lateral Sclerosis |
|
|
| Spastic Ataxia |
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Arthrogryposis Multiplex Congenita-3 |
|
|
| Emery-Dreifuss Muscular Dystrophy |
|
|
| Cardiomyopathy, Dilated, 1a |
|
|
| Cardiomyopathy, Dilated, 1h |
|
|
| Spinocerebellar Ataxia 8 |
|
|
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
|
| Dilated Cardiomyopathy |
|
|
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
|
| Aceruloplasminemia |
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
|
| Muscular Dystrophy |
|
|
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
|
| Colon Adenocarcinoma |
|
|
| Axonal Neuropathy |
|
|
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
|
| Motor Neuron Disease |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
|
| Multiple Pterygium Syndrome, Escobar Variant |
|
|
| Buschke-Ollendorff Syndrome |
|
|
| Distal Arthrogryposis |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Bipolar Disorder |
|
|
| Pelger-Huet Anomaly |
|
|
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
|
| Colorectal Cancer |
|
|
| Myopathy |
|
|
| Hereditary Ataxia |
|
|
| Cerebellar Disease |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|