TUBGCP4
entrez
27229
canonical
uniprot
Q9UGJ1
canonical
ensembl
ENSG00000137822
resolver
ensp
ENSP00000260383
resolver
ensp
ENSP00000455474
resolver
ensp
ENSP00000456648
resolver
ensp
ENSP00000522361
resolver
ensp
ENSP00000522362
resolver
ensp
ENSP00000775515
resolver
ensp
ENSP00000781939
resolver
ensp
ENSP00000781940
resolver
genesymbol
TUBGCP4
resolver
genesymbol_syn
76P
resolver
genesymbol_syn
GCP4
resolver
hgnc
HGNC:16691
resolver
uniprot
B3KNK6
resolver
uniprot
Q969X3
resolver
uniprot
Q9NVF0
resolver
uniprot_entry
GCP4_HUMAN
resolver
uniprot_sec
B3KNK6
resolver
uniprot_sec
Q969X3
resolver
uniprot_sec
Q9NVF0
resolver
amino_acid_sequence
MIHELLLALSGYPGSIFTWNKRSGLQVSQDFPFLHPSETSVLNRLCRLGTDYIRFTEFIEQYTGHVQQQDHHPSQQGQGGLHGIYLRAFCTGLDSVLQPYRQALLDLEQEFLGDPHLSISHVNYFLDQFQLLFPSVMVVVEQIKSQKIHGCQILETVYKHSCGGLPPVRSALEKILAVCHGVMYKQLSAWMLHGLLLDQHEEFFIKQGPSSGNVSAQPEEDEEDLGIGGLTGKQLRELQDLRLIEEENMLAPSLKQFSLRVEILPSYIPVRVAEKILFVGESVQMFENQNVNLTRKGSILKNQEDTFAAELHRLKQQPLFSLVDFEQVVDRIRSTVAEHLWKLMVEESDLLGQLKIIKDFYLLGRGELFQAFIDTAQHMLKTPPTAVTEHDVNVAFQQSAHKVLLDDDNLLPLLHLTIEYHGKEHKADATQAREGPSRETSPREAPASGWAALGLSYKVQWPLHILFTPAVLEKYNVVFKYLLSVRRVQAELQHCWALQMQRKHLKSNQTDAIKWRLRNHMAFLVDNLQYYLQVDVLESQFSQLLHQINSTRDFESIRLAHDHFLSNLLAQSFILLKPVFHCLNEILDLCHSFCSLVSQNLGPLDERGAAQLSILVKGFSRQSSLLFKILSSVRNHQINSDLAQLLLRLDYNKYYTQAGGTLGSFGM
uniprot
proteins
disease_involvement
DISEASE: Microcephaly and chorioretinopathy, autosomal recessive, 3 (MCCRP3) [MIM:616335]: A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties. {ECO:0000269|PubMed:25817018}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the gamma-tubulin ring complex (gTuRC) which mediates microtubule nucleation (PubMed:38305685, PubMed:38609661, PubMed:39321809). The gTuRC regulates the minus-end nucleation of alpha-beta tubulin heterodimers that grow into microtubule protafilaments, a critical step in centrosome duplication and spindle formation (PubMed:38305685, PubMed:38609661, PubMed:39321809). {ECO:0000269|PubMed:38305685, ECO:0000269|PubMed:38609661, ECO:0000269|PubMed:39321809}.
uniprot
proteins
mass_dalton
76089
uniprot
proteins
protein_family
TUBGCP family
uniprot
proteins
pubmed
10562286
uniprot
proteins
pubmed
12852856
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25817018
uniprot
proteins
pubmed
26213385
uniprot
proteins
pubmed
38305685
uniprot
proteins
pubmed
38609661
uniprot
proteins
pubmed
39321809
uniprot
proteins
sequence_length
667
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
uniprot
proteins