Gene
obsl1b
- ID
- ZDB-GENE-050809-29
- Name
- obscurin like cytoskeletal adaptor 1b
- Symbol
- obsl1b Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- 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
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153054 (1 image)
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 |
| 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 domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Obscurin and Obscurin-like Regulators |
|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9QGB3
|
2919 | |||||||||
|
UniProtKB:A0A8M9Q5Q8
|
2929 | |||||||||
|
UniProtKB:A0A8M9PT88
|
2837 | |||||||||
|
UniProtKB:A0A8M9QBS0
|
2706 | |||||||||
|
UniProtKB:A0A8M6Z892
|
2432 | |||||||||
|
UniProtKB:A0A8M9QGB8
|
2430 | |||||||||
|
UniProtKB:A0A8M9QKG7
|
2928 | |||||||||
|
UniProtKB:A0A8M9Q5R1
|
2745 | |||||||||
|
UniProtKB:A0A8M9QKH1
|
2614 | |||||||||
|
UniProtKB:F1QX95
|
2156 | |||||||||
|
UniProtKB:A0A8M9QBR3
|
2928 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
obsl1b-201
(1)
|
Ensembl | 7,196 nt | ||
| mRNA |
obsl1b-202
(1)
|
Ensembl | 11,821 nt | ||
| mRNA |
obsl1b-203
(1)
|
Ensembl | 7,262 nt |
Interactions and Pathways
No data available
Plasmids
No data available