Gene
caska
- ID
- ZDB-GENE-020802-4
- Name
- calcium/calmodulin-dependent serine protein kinase a
- Symbol
- caska Nomenclature History
- Previous Names
-
- cask
- wu:fb70g06
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and protein kinase activity. Predicted to be involved in protein phosphorylation. Human ortholog(s) of this gene implicated in FG syndrome and syndromic X-linked intellectual disability Najm type. Is expressed in nervous system; notochord; optic vesicle; and yolk syncytial layer. Orthologous to human CASK (calcium/calmodulin dependent serine protein kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6893159 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Cristofoli et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| FG syndrome | Alliance | FG syndrome 4 | 300422 |
| FG syndrome | Alliance | Intellectual developmental disorder, with or without nystagmus | 300422 |
| syndromic X-linked intellectual disability Najm type | Alliance | Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia | 300749 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020590 | Guanylate kinase, conserved site |
| Domain | IPR000719 | Protein kinase domain |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001478 | PDZ domain |
| Domain | IPR004172 | L27 domain |
| Domain | IPR008144 | Guanylate kinase-like domain |
| Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
| Domain | IPR014775 | L27 domain, C-terminal |
| Domain | IPR035473 | CASK, SH3 domain |
| Family | IPR050716 | Membrane-associated guanylate kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036034 | PDZ superfamily |
| Homologous_superfamily | IPR036892 | L27 domain superfamily |
Domain Details Per Protein
| Protein | Length | CASK, SH3 domain | Guanylate kinase, conserved site | Guanylate kinase-like domain | Guanylate kinase/L-type calcium channel beta subunit | L27 domain | L27 domain, C-terminal | L27 domain superfamily | Membrane-associated guanylate kinase | PDZ domain | PDZ superfamily | P-loop containing nucleoside triphosphate hydrolase | Protein kinase domain | Protein kinase-like domain superfamily | SH3 domain | SH3-like domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0N4STN7
|
||||||||||||||||
|
UniProtKB:A0A8M6Z0S9
|
965 | |||||||||||||||
|
UniProtKB:A0A8M6Z0U1
|
926 | |||||||||||||||
|
UniProtKB:A0A8M6Z2G4
|
952 | |||||||||||||||
|
UniProtKB:A0A8M6Z8C8
|
942 | |||||||||||||||
|
UniProtKB:B3DH78
|
920 | |||||||||||||||
|
UniProtKB:A0A8M6Z054
|
949 | |||||||||||||||
|
UniProtKB:A0A8M6Z0T7
|
943 | |||||||||||||||
|
UniProtKB:A0A8M6Z7Z6
|
898 | |||||||||||||||
|
UniProtKB:Q910A4
|
920 | |||||||||||||||
|
UniProtKB:A0A8M6Z2G8
|
942 | |||||||||||||||
|
UniProtKB:A0A8M6Z0T2
|
956 | |||||||||||||||
|
UniProtKB:A0A8M6Z050
|
959 | |||||||||||||||
|
UniProtKB:A0A8M6Z8D0
|
921 | |||||||||||||||
|
UniProtKB:A0A8M6Z057
|
935 | |||||||||||||||
|
UniProtKB:A0A8M9QJH6
|
921 | |||||||||||||||
|
UniProtKB:A0A8M6Z7Z0
|
948 | |||||||||||||||
|
UniProtKB:A0A8M6Z8C0
|
960 | |||||||||||||||
|
UniProtKB:A0A8M6Z2H6
|
928 | |||||||||||||||
|
UniProtKB:A0A8M6Z2H1
|
926 | |||||||||||||||
|
UniProtKB:A0A8M6Z0U6
|
897 | |||||||||||||||
|
UniProtKB:A0A8M6Z7Z3
|
929 | |||||||||||||||
|
UniProtKB:A0A8M9QF81
|
511 | |||||||||||||||
|
UniProtKB:A0A8M6Z7Y8
|
958 | |||||||||||||||
|
UniProtKB:A0A8M6Z2G0
|
964 | |||||||||||||||
|
UniProtKB:A0A8M6Z8C4
|
951 |
Interactions and Pathways
No data available
Plasmids
No data available