Gene
ppp1cbl
- ID
- ZDB-GENE-030131-6529
- Name
- protein phosphatase 1, catalytic subunit, beta isoform, like
- Symbol
- ppp1cbl Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Enables protein heterodimerization activity. Acts upstream of or within convergent extension involved in axis elongation. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Noonan syndrome-like disorder with loose anagen hair 2. Orthologous to human PPP1CB (protein phosphatase 1 catalytic subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7142005 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Jayashankar et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Noonan syndrome-like disorder with loose anagen hair 2 | Alliance | Noonan syndrome-like disorder with loose anagen hair 2 | 617506 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004843 | Calcineurin-like phosphoesterase domain, ApaH type |
| Domain | IPR006186 | Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase |
| Domain | IPR031675 | Serine-threonine protein phosphatase, N-terminal |
| Family | IPR050341 | Serine/threonine-protein phosphatase PP1 catalytic subunit |
| Homologous_superfamily | IPR029052 | Metallo-dependent phosphatase-like |
Domain Details Per Protein
| Protein | Length | Calcineurin-like phosphoesterase domain, ApaH type | Metallo-dependent phosphatase-like | Serine-threonine protein phosphatase, N-terminal | Serine/threonine-protein phosphatase PP1 catalytic subunit | Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase |
|---|---|---|---|---|---|---|
|
UniProtKB:Q7T313
|
281 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
ppp1cbl-201
(1)
|
Ensembl | 693 nt |
Interactions and Pathways
No data available
Plasmids
No data available