Gene
syne1b
- ID
- ZDB-GENE-071218-4
- Name
- spectrin repeat containing, nuclear envelope 1b
- Symbol
- syne1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have actin filament binding activity. Involved in heart development. Predicted to localize to cytoplasm; meiotic nuclear membrane microtubule tethering complex; and nuclear outer membrane. 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. Orthologous to human SYNE1 (spectrin repeat containing nuclear envelope protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Haskell et al., 2017
- 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:A0A8M6Z1N5
|
8804 | ||||||||
|
UniProtKB:A0A8M3AR55
|
8816 | ||||||||
|
UniProtKB:A0A8M6YT86
|
8805 | ||||||||
|
UniProtKB:A0A8M3B265
|
8798 | ||||||||
|
UniProtKB:A0A8M6Z2C7
|
8815 | ||||||||
|
UniProtKB:A0A8M3AIP9
|
8775 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
syne1b-201
(1)
|
Ensembl | 26,133 nt | ||
| mRNA |
syne1b-202
(1)
|
Ensembl | 27,036 nt | ||
| mRNA |
syne1b-203
(1)
|
Ensembl | 870 nt |
Interactions and Pathways
No data available
Plasmids
No data available