InnateDB Protein
|
IDBP-12962.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
TUBGCP6
|
Protein Name
|
tubulin, gamma complex associated protein 6
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000248846
|
InnateDB Gene
|
IDBG-12960 (TUBGCP6)
|
Protein Structure
|
|
Function |
Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. {ECO:0000269PubMed:11694571}.
|
Subcellular Localization |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:11694571}.
|
Disease Associations |
Microcephaly and chorioretinopathy with or without mental retardation, autosomal recessive (MCPHCR) [MIM:251270]: A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. {ECO:0000269PubMed:22279524}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
|
Protein-Protein |
10
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007259
Gamma-tubulin complex component protein
|
PFAM |
PF04130
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q96RT7
|
PhosphoSite |
PhosphoSite-Q96RT7
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
85378
|
UniGene |
Hs.639711
|
RefSeq |
NP_065194
|
HUGO |
HGNC:18127
|
OMIM |
610053
|
CCDS |
CCDS14087
|
HPRD |
15589
|
IMGT |
|
EMBL |
AB051456
AF272887
AL022328
BC023573
BC042165
|
GenPept |
AAH23573
AAH42165
AAK82968
BAB33339
|
|
|