ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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 cell projection; desmosome; and podosome. 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
- Genome Browsers