Gene
prkdc
- ID
- ZDB-GENE-030131-9008
- Name
- protein kinase, DNA-activated, catalytic subunit
- Symbol
- prkdc Nomenclature History
- Previous Names
-
- fa96e12
- wu:fa96e12 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have protein serine/threonine kinase activity. Involved in B cell differentiation; T cell receptor V(D)J recombination; and immunoglobulin heavy chain V-D-J recombination. Predicted to localize to nucleus. Used to study severe combined immunodeficiency. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Is expressed in kidney and spleen. Orthologous to human PRKDC (protein kinase, DNA-activated, catalytic subunit).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7147291 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
immunodeficiency 26 | Alliance | Immunodeficiency 26, with or without neurologic abnormalities | 615966 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
severe combined immunodeficiency | prkdcyu27/yu27 (AB) | standard conditions | Jung et al., 2016 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018936 | Phosphatidylinositol 3/4-kinase, conserved site |
Domain | IPR000403 | Phosphatidylinositol 3-/4-kinase, catalytic domain |
Domain | IPR003151 | PIK-related kinase, FAT |
Domain | IPR003152 | FATC domain |
Domain | IPR012582 | DNA-dependent protein kinase catalytic subunit, CC3 |
Domain | IPR014009 | PIK-related kinase |
Domain | IPR037706 | DNA-dependent protein kinase catalytic subunit, catalytic domain |
Domain | IPR045581 | DNA-dependent protein kinase catalytic subunit, CC5 |
Domain | IPR046803 | DNA-dependent protein kinase catalytic subunit, CC1/2 |
Domain | IPR046804 | DNA-PKcs, N-terminal |
Family | IPR050517 | DNA Damage Response and Repair Kinase |
Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Homologous_superfamily | IPR016024 | Armadillo-type fold |
Homologous_superfamily | IPR036940 | Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily |
Domain Details Per Protein
Protein | Length | Armadillo-type fold | DNA Damage Response and Repair Kinase | DNA-dependent protein kinase catalytic subunit, catalytic domain | DNA-dependent protein kinase catalytic subunit, CC1/2 | DNA-dependent protein kinase catalytic subunit, CC3 | DNA-dependent protein kinase catalytic subunit, CC5 | DNA-PKcs, N-terminal | FATC domain | Phosphatidylinositol 3-/4-kinase, catalytic domain | Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily | Phosphatidylinositol 3/4-kinase, conserved site | PIK-related kinase | PIK-related kinase, FAT | Protein kinase-like domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:E7F4J7
|
4119 |
Interactions and Pathways
No data available
Plasmids
No data available