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 enable actin filament binding activity. Acts upstream of or within heart development. Predicted to be located in membrane and nucleus. Predicted to be part of meiotic nuclear membrane microtubule tethering complex. Predicted to be active in cytoplasm and nuclear outer membrane. 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
- 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