TTLL5
entrez
23093
canonical
uniprot
Q6EMB2
canonical
ensembl
ENSG00000119685
resolver
ensp
ENSP00000298832
resolver
genesymbol
TTLL5
resolver
genesymbol_syn
KIAA0998
resolver
genesymbol_syn
STAMP
resolver
hgnc
HGNC:19963
resolver
uniprot
B9EGH8
resolver
uniprot
B9EGH9
resolver
uniprot
Q9BUB0
resolver
uniprot
Q9H0G4
resolver
uniprot
Q9H7W2
resolver
uniprot
Q9P1V5
resolver
uniprot
Q9UPZ4
resolver
uniprot_entry
TTLL5_HUMAN
resolver
uniprot_sec
B9EGH8
resolver
uniprot_sec
B9EGH9
resolver
uniprot_sec
Q9BUB0
resolver
uniprot_sec
Q9H0G4
resolver
uniprot_sec
Q9H7W2
resolver
uniprot_sec
Q9P1V5
resolver
uniprot_sec
Q9UPZ4
resolver
amino_acid_sequence
MPIVMARDLEETASSSEDEEVISQEDHPCIMWTGGCRRIPVLVFHADAILTKDNNIRVIGERYHLSYKIVRTDSRLVRSILTAHGFHEVHPSSTDYNLMWTGSHLKPFLLRTLSEAQKVNHFPRSYELTRKDRLYKNIIRMQHTHGFKAFHILPQTFLLPAEYAEFCNSYSKDRGPWIVKPVASSRGRGVYLINNPNQISLEENILVSRYINNPLLIDDFKFDVRLYVLVTSYDPLVIYLYEEGLARFATVRYDQGAKNIRNQFMHLTNYSVNKKSGDYVSCDDPEVEDYGNKWSMSAMLRYLKQEGRDTTALMAHVEDLIIKTIISAELAIATACKTFVPHRSSCFELYGFDVLIDSTLKPWLLEVNLSPSLACDAPLDLKIKASMISDMFTVVGFVCQDPAQRASTRPIYPTFESSRRNPFQKPQRCRPLSASDAEMKNLVGSAREKGPGKLGGSVLGLSMEEIKVLRRVKEENDRRGGFIRIFPTSETWEIYGSYLEHKTSMNYMLATRLFQDRMTADGAPELKIESLNSKAKLHAALYERKLLSLEVRKRRRRSSRLRAMRPKYPVITQPAEMNVKTETESEEEEEVALDNEDEEQEASQEESAGFLRENQAKYTPSLTALVENTPKENSMKVREWNNKGGHCCKLETQELEPKFNLMQILQDNGNLSKMQARIAFSAYLQHVQIRLMKDSGGQTFSASWAAKEDEQMELVVRFLKRASNNLQHSLRMVLPSRRLALLERRRILAHQLGDFIIVYNKETEQMAEKKSKKKVEEEEEDGVNMENFQEFIRQASEAELEEVLTFYTQKNKSASVFLGTHSKISKNNNNYSDSGAKGDHPETIMEEVKIKPPKQQQTTEIHSDKLSRFTTSAEKEAKLVYSNSSSGPTATLQKIPNTHLSSVTTSDLSPGPCHHSSLSQIPSAIPSMPHQPTILLNTVSASASPCLHPGAQNIPSPTGLPRCRSGSHTIGPFSSFQSAAHIYSQKLSRPSSAKAGSCYLNKHHSGIAKTQKEGEDASLYSKRYNQSMVTAELQRLAEKQAARQYSPSSHINLLTQQVTNLNLATGIINRSSASAPPTLRPIISPSGPTWSTQSDPQAPENHSSSPGSRSLQTGGFAWEGEVENNVYSQATGVVPQHKYHPTAGSYQLQFALQQLEQQKLQSRQLLDQSRARHQAIFGSQTLPNSNLWTMNNGAGCRISSATASGQKPTTLPQKVVPPPSSCASLVPKPPPNHEQVLRRATSQKASKGSSAEGQLNGLQSSLNPAAFVPITSSTDPAHTKI
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy 19 (CORD19) [MIM:615860]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:24791901}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
6.3.2.-
uniprot
proteins
function
FUNCTION: Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polyglutamylation reaction over the elongation step. Preferentially modifies the alpha-tubulin tail over a beta-tail (By similarity). Required for CCSAP localization to both polyglutamylated spindle and cilia microtubules (PubMed:22493317). Increases the effects of transcriptional coactivator NCOA2/TIF2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691). {ECO:0000250|UniProtKB:Q8CHB8, ECO:0000269|PubMed:17116691, ECO:0000269|PubMed:22493317}.
uniprot
proteins
mass_dalton
143577
uniprot
proteins
mutagenesis
MUTAGEN 467..473; /note="KVLRRVK->DVLDDVD: Decreased binding to microtubules and polyglutamylase activity."; /evidence="ECO:0000269|PubMed:25959773
uniprot
proteins
protein_family
Tubulin--tyrosine ligase family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17116691
uniprot
proteins
pubmed
22493317
uniprot
proteins
pubmed
24791901
uniprot
proteins
pubmed
25959773
uniprot
proteins
sequence_length
1281
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:24791901}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8CHB8}. Nucleus {ECO:0000269|PubMed:17116691}. Cytoplasm {ECO:0000269|PubMed:17116691}. Note=Localized to the base of the connecting cilium between the basal body and the adjacent daughter centriole of the cilium. In osteosarcoma cells, found in both cytoplasm and nucleus in the absence of steroid but located exclusively in the nucleus in the presence of steroid. {ECO:0000250|UniProtKB:Q8CHB8, ECO:0000269|PubMed:24791901}.
uniprot
proteins