| Type | Description |
|---|---|
| Definition | gamma-glutamyl carboxylase |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 12:57:00 | Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGFbeta/smad signaling pathway. | 31539109 |
| 2020-07-18 12:23:00 | Exon 2 skipping eliminates gamma-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency. | 31009158 |
| 2018-08-11 12:01:00 | The risk for ischemic atherothrombotic stroke in patients with the gamma-glutamyl carboxylase T/T genotype was higher than in major C-allele carriers. | 29975826 |
| 2018-06-09 11:57:00 | unlike the traditional in vitro GGCX activity assay, allows us to assess the functionality of GGCX using its natural protein substrates in a cellular milieu | 27394683 |
| 2018-02-10 11:42:00 | 2 causative GGCX mutations ( c.1889-6G>A and c.1657delA) from the first reported clinical case of a VKCFD patient. The intronic mutation c.1889-6G>A affects GGCX splicing. Functional characterization of these 2 mutations suggests that truncation of GGCX from its C-terminus affects not only substrate binding but also protein stability. | 28679738 |
| Type | IDs |
|---|---|
| Synonymous | VKCFD1 |
| Gene |
UniProtKB-ID:
VKGC_HUMAN
UniprotKB:
P38435
UniParc:
UPI0000411088,
UPI0000000DD6
EMBL:
BC013979,
AK297397,
L17128,
U65896,
AC016753,
M81592
Ensembl:
ENSG00000115486
KO:
hsa:2677
|
| Nucleutide sequences |
EMBL-CDS:
AAH13979.1,
AAA58643.1,
AAY24340.1,
AAA91834.1,
BAG59837.1,
AAB39832.1
Ensembl_TRS:
ENST00000233838,
ENST00000430215
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000408045,
ENSP00000233838
RefSeq:
NP_000812.2,
XP_011531067.1,
NP_001298241.1,
NP_001135741.1,
XP_011531066.1,
XP_016859292.1,
XP_005264316.1
|
| Others |
UniRef100:
UniRef100_P38435
UniRef90:
UniRef90_P38435
UniRef50:
UniRef50_P38435
UniGene:
Hs.77719
CCDS:
CCDS1978.1,
CCDS46353.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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