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
Domain Details Per Protein
| Protein | Length | Muscleblind-like, CCCH zinc finger | Zinc finger, CCCH-type |
|---|---|---|---|
|
UniProtKB:A5YC46
|
412 | ||
|
UniProtKB:Q08BY7
|
303 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mbnl1-201
(1)
|
Ensembl | 1,894 nt | ||
| mRNA |
mbnl1-202
(1)
|
Ensembl | 1,912 nt | ||
| mRNA |
mbnl1-203
(1)
|
Ensembl | 1,948 nt | ||
| mRNA |
mbnl1-204
(1)
|
Ensembl | 1,883 nt | ||
| mRNA |
mbnl1-205
(1)
|
Ensembl | 2,124 nt | ||
| mRNA |
mbnl1-206
(1)
|
Ensembl | 1,858 nt | ||
| mRNA |
mbnl1-207
(1)
|
Ensembl | 912 nt | ||
| mRNA |
mbnl1-208
(1)
|
Ensembl | 2,178 nt |
Interactions and Pathways
No data available
Plasmids
No data available