Gene
pleca
- ID
- ZDB-GENE-030131-8984
- Name
- plectin a
- Symbol
- pleca Nomenclature History
- Previous Names
-
- plec (1)
- fa95h11
- sb:eu420
- si:dkey-151c10.1
- wu:fa95h11
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable ankyrin binding activity. Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within locomotory behavior and skeletal muscle tissue development. Predicted to be located in cytoskeleton and membrane. Predicted to be active in several cellular components, including focal adhesion; hemidesmosome; and sarcolemma. Predicted to colocalize with intermediate filament. Is expressed in epidermis; telencephalon; and yolk syncytial layer. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy. Orthologous to human PLEC (plectin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu420 (9 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2Q | Alliance | Muscular dystrophy, limb-girdle, autosomal recessive 17 | 613723 |
| epidermolysis bullosa simplex Ogna type | Alliance | Epidermolysis bullosa simplex 5A, Ogna type | 131950 |
| epidermolysis bullosa simplex with muscular dystrophy | Alliance | Epidermolysis bullosa simplex 5B, with muscular dystrophy | 226670 |
| Epidermolysis bullosa simplex 5C, with pyloric atresia | 612138 | ||
| ?Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive | 616487 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR001589 | Actinin-type actin-binding domain, conserved site |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001715 | Calponin homology domain |
| Domain | IPR041573 | Desmoplakin, spectrin-like domain |
| Domain | IPR041615 | Desmoplakin, SH3 domain |
| Family | IPR043197 | Plakin |
| Homologous_superfamily | IPR035915 | Plakin repeat superfamily |
| Homologous_superfamily | IPR036872 | CH domain superfamily |
| Repeat | IPR001101 | Plectin repeat |
| Repeat | IPR018159 | Spectrin/alpha-actinin |
| Repeat | IPR049538 | Plectin-like, spectrin-like repeat |
Domain Details Per Protein
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pleca-201
(1)
|
Ensembl | 720 nt | ||
| mRNA |
pleca-202
(1)
|
Ensembl | 17,158 nt | ||
| mRNA |
pleca-203
(1)
|
Ensembl | 15,886 nt | ||
| mRNA |
pleca-204
(1)
|
Ensembl | 643 nt | ||
| mRNA |
pleca-205
(1)
|
Ensembl | 13,710 nt | ||
| mRNA |
pleca-206
(1)
|
Ensembl | 14,813 nt | ||
| mRNA |
pleca-207
(1)
|
Ensembl | 13,800 nt | ||
| mRNA |
pleca-208
(1)
|
Ensembl | 13,743 nt | ||
| mRNA |
pleca-209
(1)
|
Ensembl | 13,872 nt | ||
| mRNA |
pleca-210
(1)
|
Ensembl | 14,988 nt | ||
| mRNA |
pleca-211
(1)
|
Ensembl | 13,764 nt | ||
| mRNA |
pleca-212
(1)
|
Ensembl | 14,150 nt |
Interactions and Pathways
No data available
Plasmids
No data available