Gene
popdc1
- ID
- ZDB-GENE-040624-11
- Name
- popeye domain cAMP effector 1
- Symbol
- popdc1 Nomenclature History
- Previous Names
-
- pop1 (1)
- bves
- zgc:86887
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable cAMP binding activity and structural molecule activity. Involved in heart development and skeletal muscle tissue development. Acts upstream of or within several processes, including bicellular tight junction assembly; eye morphogenesis; and heart morphogenesis. Located in sarcolemma. Is expressed in several structures, including EVL; cardiovascular system; eye; integument; and optic vesicle. Used to study tetralogy of Fallot. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2X. Orthologous to human BVES (blood vessel epicardial substance).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6907272 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2X | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 25 | 616812 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| tetralogy of Fallot | AB + MO1-popdc1 | standard conditions | Shi et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cyclic nucleotide-binding domain superfamily | POPDC1-3 | RmlC-like jelly roll fold |
|---|---|---|---|---|
|
UniProtKB:G9HVJ5
|
352 | |||
|
UniProtKB:Q5PQZ7
|
352 |
Interactions and Pathways
No data available
Plasmids
No data available