| URN | urn:agi-llid:2677 |
|---|---|
| Total Entities | 0 |
| Connectivity | 94 |
| Name | Ggcx |
| Description | gamma-glutamyl carboxylase |
| Notes | This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein. Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] |
| GO Molecular Function | lyase activity |
|---|---|
| gamma-glutamyl carboxylase activity | |
| vitamin binding | |
| peptide binding |
| GO Cellular Component | membrane |
|---|---|
| integral component of membrane | |
| endoplasmic reticulum membrane | |
| endoplasmic reticulum | |
| intracellular membrane-bounded organelle |
| GO Biological Process | blood coagulation |
|---|---|
| embryo development | |
| response to vitamin K | |
| cellular protein metabolic process | |
| cellular protein modification process | |
| post-translational protein modification | |
| peptidyl-glutamic acid carboxylation |
| Pathway | Vitamin K metabolism |
|---|---|
| vitamin K cycle pathway |
| Group | blood coagulation |
|---|---|
| embryo development | |
| response to vitamin K | |
| lyase activity | |
| gamma-glutamyl carboxylase activity | |
| cellular protein metabolic process | |
| cellular protein modification process | |
| post-translational protein modification | |
| peptidyl-glutamic acid carboxylation | |
| vitamin binding | |
| peptide binding | |
| membrane | |
| integral component of membrane | |
| endoplasmic reticulum membrane | |
| endoplasmic reticulum | |
| intracellular membrane-bounded organelle | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 2677 |
|---|---|
| 56316 | |
| 81716 |
| Cell Localization | Endoplasmic reticulum membrane |
|---|
| GO ID | 0008488 |
|---|---|
| 0007596 | |
| 0044267 | |
| 0006464 | |
| 0017187 | |
| 0043687 | |
| 0005789 | |
| 0016021 | |
| 0016020 | |
| 0016829 | |
| 0019842 | |
| 0005783 | |
| 0043231 | |
| 0042277 | |
| 0009790 | |
| 0032571 |
| Alias | VKCFD1 |
|---|---|
| vitamin K-dependent gamma-carboxylase | |
| peptidyl-glutamate 4-carboxylase | |
| vitamin K gamma glutamyl carboxylase | |
| GC | |
| gamma-carboxylase | |
| LOC100507238 | |
| menadione dependent carboxylase | |
| gamma glutamylcarboxylase | |
| LOC129302 | |
| GGCX | |
| gamma-glutymyl carboxylase | |
| gamma-glutamyl carboxylase | |
| FLJ26629 | |
| vitamin K-dependent carboxylase |
| Mouse chromosome position | 6 |
|---|
| OMIM ID | 137167 |
|---|---|
| 610842 | |
| 277450 |
| Rat chromosome position | 4q33 |
|---|
| Hugo ID | 4247 |
|---|
| Human chromosome position | 2p12 |
|---|
| Swiss-Prot Accession | P38435 |
|---|---|
| B2RS80 | |
| Q9QYC7 | |
| O88496 | |
| B4DMC5 | |
| E9PEE1 | |
| Q14415 | |
| Q6GU45 | |
| Q3UXN5 | |
| Q8CCB3 |
| PIR ID | A39283 |
|---|
| Unigene ID | Hs.77719 |
|---|---|
| Mm.19937 | |
| Rn.22410 |
| KEGG ID | hsa:2677 |
|---|---|
| mmu:56316 | |
| rno:81716 |
| Swiss-Prot ID | VKGC_HUMAN |
|---|---|
| VKGC_RAT | |
| VKGC_MOUSE |
| EC Number | 4.1.1.90 |
|---|
| Ensembl ID | ENSG00000115486 |
|---|---|
| ENSP00000233838 | |
| ENST00000233838 | |
| ENSMUSG00000053460 | |
| ENSMUSP00000070109 | |
| ENSMUST00000065906 | |
| ENSRNOG00000012975 | |
| ENSRNOP00000017928 | |
| ENSRNOT00000017927 |
| Homologene ID | 639 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1927655 |
|---|
| RGD ID | 68383 |
|---|
| MedScan ID | 2677 |
|---|