Gene
syne1a
- ID
- ZDB-GENE-030131-4172
- Name
- spectrin repeat containing, nuclear envelope 1a
- Symbol
- syne1a Nomenclature History
- Previous Names
-
- si:ch211-225l4.1
- si:ch211-87a14.2
- wu:fc76h10
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity. Predicted to be involved in cytoskeletal anchoring at nuclear membrane. Predicted to localize to integral component of membrane and meiotic nuclear membrane microtubule tethering complex. Human ortholog(s) of this gene implicated in autosomal dominant Emery-Dreifuss muscular dystrophy 4; autosomal recessive spinocerebellar ataxia 8; bipolar disorder; cerebellar ataxia; and muscular dystrophy. Is expressed in basal plate midbrain region; heart; and nervous system. Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1113 (13 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| arthrogryposis multiplex congenita-3 | Alliance | Arthrogryposis multiplex congenita 3, myogenic type | 618484 |
| autosomal dominant Emery-Dreifuss muscular dystrophy 4 | Alliance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 612998 |
| autosomal recessive spinocerebellar ataxia 8 | Alliance | Spinocerebellar ataxia, autosomal recessive 8 | 610743 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR012315 | KASH domain |
| Domain | IPR047290 | Nesprin-1-like, first calponin homology domain |
| Domain | IPR047291 | Nesprin-1-like, second calponin homology domain |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR002017 | Spectrin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
Domain Details Per Protein
| Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | KASH domain | Nesprin-1-like, first calponin homology domain | Nesprin-1-like, second calponin homology domain | Spectrin/alpha-actinin | Spectrin repeat |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q747
|
8731 | ||||||||
|
UniProtKB:A0A8M9PD82
|
8718 | ||||||||
|
UniProtKB:A0A8M9PPT9
|
8708 | ||||||||
|
UniProtKB:A0A8M9Q2Z9
|
8718 | ||||||||
|
UniProtKB:A0A8M9PHU3
|
5765 | ||||||||
|
UniProtKB:A0A8M9PC75
|
8731 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syne1a-201
(1)
|
Ensembl | 26,957 nt | ||
| mRNA |
syne1a-202
(1)
|
Ensembl | 838 nt |
Interactions and Pathways
No data available
Plasmids
No data available