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 have ankyrin binding activity and structural molecule activity. Involved in locomotory behavior and skeletal muscle tissue development. Predicted to colocalize with intermediate filament. 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. Is expressed in epidermis and yolk syncytial layer. 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
- All Phenotype Data
- 2 figures from Bührdel et al., 2015
- 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 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 |
Domain Details Per Protein
| Protein | Length | Actinin-type actin-binding domain, conserved site | Calponin homology domain | CH domain superfamily | Desmoplakin, SH3 domain | Desmoplakin, spectrin-like domain | Plakin | Plakin repeat superfamily | Plectin repeat | SH3 domain | Spectrin/alpha-actinin |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PNG8
|
4592 | ||||||||||
|
UniProtKB:A0A8M9PGJ1
|
4597 | ||||||||||
|
UniProtKB:A0A8M9PRQ7
|
4597 | ||||||||||
|
UniProtKB:E7F8G7
|
4762 | ||||||||||
|
UniProtKB:A5WV02
|
4577 | ||||||||||
|
UniProtKB:A0A8M9PGJ7
|
4586 | ||||||||||
|
UniProtKB:A0A8M9PRN8
|
4790 | ||||||||||
|
UniProtKB:A0A8M9PGI7
|
4605 | ||||||||||
|
UniProtKB:A0A8M9PNG2
|
4600 | ||||||||||
|
UniProtKB:A0A8M9P1X0
|
4592 | ||||||||||
|
UniProtKB:A0A2R8PVX9
|
4580 | ||||||||||
|
UniProtKB:A0A8M9PNE8
|
4779 | ||||||||||
|
UniProtKB:A0A2R8RIJ1
|
4599 | ||||||||||
|
UniProtKB:A0A8M9PB30
|
4588 | ||||||||||
|
UniProtKB:A0A8M9PNF5
|
4630 | ||||||||||
|
UniProtKB:A0A8M9PB27
|
4599 | ||||||||||
|
UniProtKB:A0A8M9PB23
|
4611 | ||||||||||
|
UniProtKB:A0A286YBE9
|
4773 | ||||||||||
|
UniProtKB:A0A8M9PRQ0
|
4604 | ||||||||||
|
UniProtKB:A0A8M9PGI1
|
4767 | ||||||||||
|
UniProtKB:A0A8M9P1W1
|
4778 | ||||||||||
|
UniProtKB:A0A8M9P1W5
|
4616 |
Interactions and Pathways
No data available
Plasmids
No data available