TBCE
entrez
6905
canonical
uniprot
Q15813
canonical
ensembl
ENSG00000284770
resolver
ensembl
ENSG00000285053
resolver
ensp
ENSP00000384571
resolver
ensp
ENSP00000439170
resolver
ensp
ENSP00000494796
resolver
ensp
ENSP00000495630
resolver
ensp
ENSP00000498645
resolver
enst
ENST00000647428
resolver
enst
ENST00000651186
resolver
genesymbol
TBCE
resolver
hgnc
HGNC:11582
resolver
uniprot
A0A2R8Y6Q1
resolver
uniprot
A8K8C2
resolver
uniprot
B7Z3P1
resolver
uniprot_entry
A0A2R8Y6Q1_HUMAN
resolver
uniprot_entry
TBCE_HUMAN
resolver
uniprot_sec
A8K8C2
resolver
uniprot_sec
B7Z3P1
resolver
amino_acid_sequence
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW
uniprot
proteins
disease_involvement
DISEASE: Hypoparathyroidism-retardation-dysmorphism syndrome (HRDS) [MIM:241410]: An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism. {ECO:0000269|PubMed:12389028}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Kenny-Caffey syndrome 1 (KCS1) [MIM:244460]: An autosomal recessive form of Kenny-Caffey syndrome, a disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face. {ECO:0000269|PubMed:12389028}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Encephalopathy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207]: An autosomal recessive, progressive, neurodegenerative encephalopathy with onset in infancy. Affected individuals manifest delayed psychomotor development, severe hypotonia, motor regression, spinal muscular atrophy, distal amyotrophy and weakness of all limbs, and intellectual disability of variable severity. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. {ECO:0000269|PubMed:27666369}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Tubulin-folding protein; involved in the second step of the tubulin folding pathway and in the regulation of tubulin heterodimer dissociation. Required for correct organization of microtubule cytoskeleton and mitotic splindle, and maintenance of the neuronal microtubule network. {ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:27666369}.
uniprot
proteins
mass_dalton
59346
uniprot
proteins
protein_family
TBCE family
uniprot
proteins
pubmed
11847227
uniprot
proteins
pubmed
12389028
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27666369
uniprot
proteins
pubmed
27666374
uniprot
proteins
pubmed
8706133
uniprot
proteins
sequence_length
527
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
uniprot
proteins