Gene
ggcx
- ID
- ZDB-GENE-030826-27
- Name
- gamma-glutamyl carboxylase
- Symbol
- ggcx Nomenclature History
- Previous Names
-
- cb751 (1)
- si:ch1073-230p18.3
- zgc:158736
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable gamma-glutamyl carboxylase activity and vitamin binding activity. Predicted to be involved in vitamin K metabolic process. Predicted to act upstream of or within peptidyl-glutamic acid carboxylation. Predicted to be located in endoplasmic reticulum membrane. Is expressed in several structures, including axis; digestive system; fin; otic placode; and polster. Human ortholog(s) of this gene implicated in combined deficiency of vitamin K-dependent clotting factors 1. Orthologous to human GGCX (gamma-glutamyl carboxylase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb751 (20 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| combined deficiency of vitamin K-dependent clotting factors 1 | Alliance | Vitamin K-dependent clotting factors, combined deficiency of, 1 | 277450 |
| Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency | 610842 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR011020 | HTTM-like |
| Domain | IPR053934 | HTTM domain |
| Domain | IPR053935 | Vitamin K-dependent gamma-carboxylase, lumenal domain |
| Family | IPR007782 | Vitamin K-dependent gamma-carboxylase |
| Homologous_superfamily | IPR011051 | RmlC-like cupin domain superfamily |
| Homologous_superfamily | IPR014710 | RmlC-like jelly roll fold |
Domain Details Per Protein
| Protein | Additional Resources | Length | HTTM domain | HTTM-like | RmlC-like cupin domain superfamily | RmlC-like jelly roll fold | Vitamin K-dependent gamma-carboxylase | Vitamin K-dependent gamma-carboxylase, lumenal domain |
|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M1RIV5 | InterPro | 770 |
Interactions and Pathways
No data available
Plasmids
No data available