TTBK2
entrez
146057
canonical
uniprot
Q6IQ55
canonical
ensembl
ENSG00000128881
resolver
ensp
ENSP00000267890
resolver
genesymbol
TTBK2
resolver
genesymbol_syn
KIAA0847
resolver
hgnc
HGNC:19141
resolver
uniprot
O94932
resolver
uniprot
Q6ZN52
resolver
uniprot
Q8IVV1
resolver
uniprot
Q8IWY7
resolver
uniprot_entry
Q8IWY7_HUMAN
resolver
uniprot_entry
TTBK2_HUMAN
resolver
uniprot_sec
O94932
resolver
uniprot_sec
Q6ZN52
resolver
uniprot_sec
Q8IVV1
resolver
amino_acid_sequence
MSGGGEQLDILSVGILVKERWKVLRKIGGGGFGEIYDALDMLTRENVALKVESAQQPKQVLKMEVAVLKKLQGKDHVCRFIGCGRNDRFNYVVMQLQGRNLADLRRSQSRGTFTISTTLRLGRQILESIESIHSVGFLHRDIKPSNFAMGRFPSTCRKCYMLDFGLARQFTNSCGDVRPPRAVAGFRGTVRYASINAHRNREMGRHDDLWSLFYMLVEFVVGQLPWRKIKDKEQVGSIKERYDHRLMLKHLPPEFSIFLDHISSLDYFTKPDYQLLTSVFDNSIKTFGVIESDPFDWEKTGNDGSLTTTTTSTTPQLHTRLTPAAIGIANATPIPGDLLRENTDEVFPDEQLSDGENGIPVGVSPDKLPGSLGHPRPQEKDVWEEMDANKNKIKLGICKAATEEENSHGQANGLLNAPSLGSPIRVRSEITQPDRDIPLVRKLRSIHSFELEKRLTLEPKPDTDKFLETCLEKMQKDTSAGKESILPALLHKPCVPAVSRTDHIWHYDEEYLPDASKPASANTPEQADGGGSNGFIAVNLSSCKQEIDSKEWVIVDKEQDLQDFRTNEAVGHKTTGSPSDEEPEVLQVLEASPQDEKLQLGPWAENDHLKKETSGVVLALSAEGPPTAASEQYTDRLELQPGAASQFIAATPTSLMEAQAEGPLTAITIPRPSVASTQSTSGSFHCGQQPEKKDLQPMEPTVELYSPRENFSGLVVTEGEPPSGGSRTDLGLQIDHIGHDMLPNIRESNKSQDLGPKELPDHNRLVVREFENLPGETEEKSILLESDNEDEKLSRGQHCIEISSLPGDLVIVEKDHSATTEPLDVTKTQTFSVVPNQDKNNEIMKLLTVGTSEISSRDIDPHVEGQIGQVAEMQKNKISKDDDIMSEDLPGHQGDLSTFLHQEGKREKITPRNGELFHCVSENEHGAPTRKDMVRSSFVTRHSRIPVLAQEIDSTLESSSPVSAKEKLLQKKAYQPDLVKLLVEKRQFKSFLGDLSSASDKLLEEKLATVPAPFCEEEVLTPFSRLTVDSHLSRSAEDSFLSPIISQSRKSKIPRPVSWVNTDQVNSSTSSQFFPRPPPGKPPTRPGVEARLRRYKVLGSSNSDSDLFSRLAQILQNGSQKPRSTTQCKSPGSPHNPKTPPKSPVVPRRSPSASPRSSSLPRTSSSSPSRAGRPHHDQRSSSPHLGRSKSPPSHSGSSSSRRSCQQEHCKPSKNGLKGSGSLHHHSASTKTPQGKSKPASKLSR
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia 11 (SCA11) [MIM:604432]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA11 is an autosomal dominant cerebellar ataxia (ADCA). It is a relatively benign, late-onset, slowly progressive neurologic disorder. {ECO:0000269|PubMed:18037885}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Serine/threonine kinase that acts as a key regulator of ciliogenesis: controls the initiation of ciliogenesis by binding to the distal end of the basal body and promoting the removal of CCP110, which caps the mother centriole, leading to the recruitment of IFT proteins, which build the ciliary axoneme. Has some substrate preference for proteins that are already phosphorylated on a Tyr residue at the +2 position relative to the phosphorylation site. Able to phosphorylate tau on serines in vitro (PubMed:23141541). Phosphorylates MPHOSPH9 which promotes its ubiquitination and proteasomal degradation, loss of MPHOSPH9 facilitates the removal of the CP110-CEP97 complex (a negative regulator of ciliogenesis) from the mother centrioles, promoting the initiation of ciliogenesis (PubMed:30375385). Required for recruitment of CPLANE2 and INTU to the mother centriole (By similarity). {ECO:0000250|UniProtKB:Q3UVR3, ECO:0000269|PubMed:21548880, ECO:0000269|PubMed:23141541, ECO:0000269|PubMed:30375385}.
uniprot
proteins
mass_dalton
137412
uniprot
proteins
mutagenesis
MUTAGEN 50; /note="K->E,A: Leads to inactivation/destabilization of the protein."; /evidence="ECO:0000269|PubMed:21548880"; MUTAGEN 143; /note="K->E,A: Leads to inactivation/destabilization of the protein."; /evidence="ECO:0000269|PubMed:21548880"; MUTAGEN 163; /note="D->A: Abolishes serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:21548880"; MUTAGEN 181; /note="R->E,A: Impaired serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:21548880"; MUTAGEN 184; /note="A->E,G: Impaired serine/threonine-protein kinase activity."; /evidence="ECO:0000269|PubMed:21548880
uniprot
proteins
protein_family
CK1 Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18037885
uniprot
proteins
pubmed
19533200
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21548880
uniprot
proteins
pubmed
22863007
uniprot
proteins
pubmed
23141541
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26063658
uniprot
proteins
pubmed
27263857
uniprot
proteins
pubmed
30375385
uniprot
proteins
sequence_length
1244
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:23141541}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:23141541}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23141541}. Cytoplasm, cytosol {ECO:0000269|PubMed:21548880}. Nucleus {ECO:0000269|PubMed:21548880}. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (PubMed:23141541). May also be present in cytosol and, at lower level in the nucleus (PubMed:21548880). {ECO:0000269|PubMed:21548880, ECO:0000269|PubMed:23141541}.
uniprot
proteins