| Type | Description |
|---|---|
| Definition | tubulin gamma complex associated protein 6 |
| Date | Results | Publications |
|---|---|---|
| 2020-03-28 10:04:00 | a family of 2 children with learning difficulties, abnormal peripheral retinal vasculogenesis, and rod-cone dystrophy were investigated. They were found to have bi-allelic splicing variants in TUBGCP6. | 31077665 |
| 2013-04-06 11:31:00 | The data suggest that GCP6 is a target of Plk4 in centriole biogenesis. | 22302995 |
| 2012-07-14 10:34:00 | Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS. | 22279524 |
| 2010-04-07 21:40:00 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 20205591 |
| 2010-01-21 00:00:00 | GCP6 participates in the attachment of microtubule-organizing centers to intermediate filaments in epithelial cells and is among the factors that determine the peculiar architecture of microtubules in polarized epithelia. | 17182859 |
| Type | IDs |
|---|---|
| Synonymous | GCP-6, GCP6, MCCRP, MCCRP1, MCPHCR |
| Gene |
UniProtKB-ID:
GCP6_HUMAN
UniprotKB:
Q96RT7
UniParc:
UPI0000F53483,
UPI000013CC55,
UPI0000F53484
EMBL:
AB051456,
BC042165,
AF272887,
AL022328,
BC023573
Ensembl:
ENSG00000128159
KO:
hsa:85378
|
| Nucleutide sequences |
EMBL-CDS:
BAB33339.1,
AAH42165.1,
AAK82968.1,
AAH23573.1
Ensembl_TRS:
ENST00000248846
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000248846
RefSeq:
NP_065194.3
|
| Others |
UniRef100:
UniRef100_Q96RT7
UniRef90:
UniRef90_Q96RT7
UniRef50:
UniRef50_Q96RT7
UniGene:
Hs.336431
CCDS:
CCDS14087.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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