TUBG1
entrez
7283
canonical
uniprot
P23258
canonical
ensembl
ENSG00000131462
resolver
ensp
ENSP00000251413
resolver
enst
ENST00000251413
resolver
genesymbol
TUBG1
resolver
genesymbol_syn
TUBG
resolver
hgnc
HGNC:12417
resolver
uniprot
Q53X79
resolver
uniprot
Q9BW59
resolver
uniprot_entry
TBG1_HUMAN
resolver
uniprot_sec
Q53X79
resolver
uniprot_sec
Q9BW59
resolver
amino_acid_sequence
MPREIITLQLGQCGNQIGFEFWKQLCAEHGISPEGIVEEFATEGTDRKDVFFYQADDEHYIPRAVLLDLEPRVIHSILNSPYAKLYNPENIYLSEHGGGAGNNWASGFSQGEKIHEDIFDIIDREADGSDSLEGFVLCHSIAGGTGSGLGSYLLERLNDRYPKKLVQTYSVFPNQDEMSDVVVQPYNSLLTLKRLTQNADCVVVLDNTALNRIATDRLHIQNPSFSQINQLVSTIMSASTTTLRYPGYMNNDLIGLIASLIPTPRLHFLMTGYTPLTTDQSVASVRKTTVLDVMRRLLQPKNVMVSTGRDRQTNHCYIAILNIIQGEVDPTQVHKSLQRIRERKLANFIPWGPASIQVALSRKSPYLPSAHRVSGLMMANHTSISSLFERTCRQYDKLRKREAFLEQFRKEDMFKDNFDEMDTSREIVQQLIDEYHAATRPDYISWGTQEQ
uniprot
proteins
disease_involvement
DISEASE: Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include early-onset seizures, microcephaly, spastic tetraplegia, and various malformations of cortical development, such as agyria, posterior or frontal pachygyria, thick cortex, and subcortical band heterotopia and thin corpus callosum in some patients. {ECO:0000269|PubMed:23603762}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:38305685, PubMed:38609661, PubMed:39321809). Gamma-tubulin is a key 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). Plays a role in sperm morphological development during late stage spermiogenesis, particularly the anchoring of the sperm head to the tail (PubMed:38870534). {ECO:0000269|PubMed:38305685, ECO:0000269|PubMed:38609661, ECO:0000269|PubMed:38870534, ECO:0000269|PubMed:39321809}.
uniprot
proteins
mass_dalton
51170
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-131 by BRSK1 regulates centrosome duplication, possibly by mediating relocation of gamma-tubulin and its associated proteins from the cytoplasm to the centrosome. {ECO:0000250}.
uniprot
proteins
protein_family
Tubulin family
uniprot
proteins
pubmed
11840567
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17959831
uniprot
proteins
pubmed
1904010
uniprot
proteins
pubmed
20643351
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23603762
uniprot
proteins
pubmed
24107630
uniprot
proteins
pubmed
30723163
uniprot
proteins
pubmed
35849559
uniprot
proteins
pubmed
38305685
uniprot
proteins
pubmed
38609661
uniprot
proteins
pubmed
38870534
uniprot
proteins
pubmed
39321809
uniprot
proteins
pubmed
9566967
uniprot
proteins
pubmed
9566969
uniprot
proteins
sequence_length
451
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:24107630, ECO:0000269|PubMed:35849559, ECO:0000269|PubMed:9566967, ECO:0000269|PubMed:9566969}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:30723163}. Note=Localizes to mitotic spindle microtubules. {ECO:0000269|PubMed:30723163}.
uniprot
proteins