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 enable actin binding activity. Predicted to be located in nuclear outer membrane. Is expressed in basal plate midbrain region; heart; and nervous system. 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).
- 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