Gene
mbnl1
- ID
- ZDB-GENE-060929-704
- Name
- muscleblind-like splicing regulator 1
- Symbol
- mbnl1 Nomenclature History
- Previous Names
-
- zgc:153954
- Type
- protein_coding_gene
- Location
- Chr: 2 Mapping Details/Browsers
- Description
- Predicted to have RNA binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to localize to cytoplasm and nucleoplasm. Is expressed in several structures, including blood; eye; gonad; heart; and swim bladder. Orthologous to human MBNL1 (muscleblind like splicing regulator 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Hinman et al., 2021
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
myotonic disease | mbnl1b1358/b1358 | standard conditions | Hinman et al., 2021 |
myotonic disease | mbnl1b1359/b1359 | standard conditions | Hinman et al., 2021 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR000571 | Zinc finger, CCCH-type |
Domain Details Per Protein
Protein | Length | Zinc finger, CCCH-type |
---|---|---|
UniProtKB:A5YC46
|
412 | |
UniProtKB:Q08BY7
|
303 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
mbnl1-201
(1)
|
Ensembl | 1894 nt | |
mRNA |
mbnl1-202
(1)
|
Ensembl | 1912 nt | |
mRNA |
mbnl1-203
(1)
|
Ensembl | 1948 nt | |
mRNA |
mbnl1-204
(1)
|
Ensembl | 1883 nt | |
mRNA |
mbnl1-205
(1)
|
Havana | 687 nt | |
mRNA |
mbnl1-206
(1)
|
Havana | 651 nt | |
mRNA |
mbnl1-207
(1)
|
Ensembl | 912 nt | |
mRNA |
mbnl1-208
(1)
|
Ensembl | 2178 nt |
Interactions and Pathways
No data available
Plasmids
No data available