Gene
obsl1a
- ID
- ZDB-GENE-060503-649
- Name
- obscurin like cytoskeletal adaptor 1a
- Symbol
- obsl1a Nomenclature History
- Previous Names
-
- OBSL1.1 (1)
- obsl1
- si:dkey-91f15.5
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to be involved in homophilic cell adhesion via plasma membrane adhesion molecules; retina layer formation; and synapse assembly. Predicted to localize to synapse. Is expressed in immature eye and somite. Human ortholog(s) of this gene implicated in 3-M syndrome. Orthologous to human OBSL1 (obscurin like cytoskeletal adaptor 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from Boyle Anderson et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
---|---|---|---|
3-M syndrome | Alliance | 3-M syndrome 2 | 612921 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR003598 | Immunoglobulin subtype 2 |
Domain | IPR003599 | Immunoglobulin domain subtype |
Domain | IPR003961 | Fibronectin type III |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR013151 | Immunoglobulin-like beta-sandwich domain |
Family | IPR052385 | Obscurin and Obscurin-like Regulators |
Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like beta-sandwich domain | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Obscurin and Obscurin-like Regulators |
---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A8M2BDK6
|
2185 | ||||||||||
UniProtKB:M9MMC0
|
2006 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
obsl1a-201
(1)
|
Ensembl | 6,339 nt |
Interactions and Pathways
No data available
Plasmids
No data available