TBCD
entrez
6904
canonical
uniprot
Q9BTW9
canonical
ensembl
ENSG00000141556
resolver
ensp
ENSP00000347719
resolver
ensp
ENSP00000506837
resolver
ensp
ENSP00000507153
resolver
ensp
ENSP00000507232
resolver
ensp
ENSP00000507337
resolver
ensp
ENSP00000507651
resolver
ensp
ENSP00000508364
resolver
ensp
ENSP00000527371
resolver
ensp
ENSP00000683149
resolver
ensp
ENSP00000742654
resolver
ensp
ENSP00000742655
resolver
enst
ENST00000682315
resolver
enst
ENST00000682722
resolver
enst
ENST00000683821
resolver
enst
ENST00000684188
resolver
enst
ENST00000684408
resolver
enst
ENST00000684544
resolver
genesymbol
TBCD
resolver
genesymbol_syn
KIAA0988
resolver
genesymbol_syn
SSD1
resolver
genesymbol_syn
TFCD
resolver
hgnc
HGNC:11581
resolver
uniprot
A0A804HI02
resolver
uniprot
A0A804HIN6
resolver
uniprot
A0A804HJ32
resolver
uniprot
A0A804HJU6
resolver
uniprot
A0A804HLI2
resolver
uniprot
O95458
resolver
uniprot
Q7L8K1
resolver
uniprot
Q8IXP6
resolver
uniprot
Q8NAX0
resolver
uniprot
Q8WYH4
resolver
uniprot
Q96E74
resolver
uniprot
Q9UF82
resolver
uniprot
Q9UG46
resolver
uniprot
Q9Y2J3
resolver
uniprot_entry
A0A804HI02_HUMAN
resolver
uniprot_entry
A0A804HIN6_HUMAN
resolver
uniprot_entry
A0A804HJ32_HUMAN
resolver
uniprot_entry
A0A804HJU6_HUMAN
resolver
uniprot_entry
A0A804HLI2_HUMAN
resolver
uniprot_entry
TBCD_HUMAN
resolver
uniprot_sec
O95458
resolver
uniprot_sec
Q7L8K1
resolver
uniprot_sec
Q8IXP6
resolver
uniprot_sec
Q8NAX0
resolver
uniprot_sec
Q8WYH4
resolver
uniprot_sec
Q96E74
resolver
uniprot_sec
Q9UF82
resolver
uniprot_sec
Q9UG46
resolver
uniprot_sec
Q9Y2J3
resolver
amino_acid_sequence
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQDQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQARMSIMDRILQIAESYLIVSDKARDAAAVLVSRFITRPDVKQSKMAEFLDWSLCNLARSSFQTMQGVITMDGTLQALAQIFKHGKREDCLPYAATVLRCLDGCRLPESNQTLLRKLGVKLVQRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVERVIEQLLVGLKDKDTVVRWSAAKGIGRMAGRLPRALADDVVGSVLDCFSFQETDKAWHGGCLALAELGRRGLLLPSRLVDVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARALHNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMRQAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNPEEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMDDYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEKLFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNERVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLGVPRPQLVPQPGAC
uniprot
proteins
disease_involvement
DISEASE: Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) [MIM:617193]: An autosomal recessive disease with neurodevelopmental and neurodegenerative features. PEBAT is characterized by early-onset cortical atrophy, hypomyelination, microcephaly, thin corpus callosum, delayed psychomotor development, developmental regression, intellectual disability, seizures, optic atrophy, muscle weakness and atrophy, spastic quadriplegia, and respiratory insufficiency due to hypotonia. {ECO:0000269|PubMed:27666370, ECO:0000269|PubMed:27666374, ECO:0000269|PubMed:27807845, ECO:0000269|PubMed:28158450}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane (PubMed:10722852, PubMed:10831612, PubMed:11847227, PubMed:20740604, PubMed:27666370, PubMed:28158450). Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis (PubMed:27666370). Involved in neuron morphogenesis (PubMed:27666374). {ECO:0000269|PubMed:10722852, ECO:0000269|PubMed:10831612, ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:20740604, ECO:0000269|PubMed:27666370, ECO:0000269|PubMed:27666374, ECO:0000269|PubMed:28158450}.
uniprot
proteins
mass_dalton
132600
uniprot
proteins
protein_family
TBCD family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
10722852
uniprot
proteins
pubmed
10831612
uniprot
proteins
pubmed
11110777
uniprot
proteins
pubmed
11847227
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20740604
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27666370
uniprot
proteins
pubmed
27666374
uniprot
proteins
pubmed
27807845
uniprot
proteins
pubmed
28158450
uniprot
proteins
sequence_length
1192
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250|UniProtKB:Q28205}. Lateral cell membrane {ECO:0000250|UniProtKB:Q28205}. Cytoplasm {ECO:0000250|UniProtKB:Q28205}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q28205}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:27666370}. Note=Localized in cell-cell contacts. {ECO:0000250|UniProtKB:Q28205}.
uniprot
proteins