Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q6IQ55

- TTBK2_HUMAN

UniProt

Q6IQ55 - TTBK2_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Tau-tubulin kinase 2

Gene

TTBK2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.2 Publications

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.1 Publication

Kineticsi

  1. KM=18 µM for RRKDLHDDEEDEAMSIYpA peptide1 Publication
  2. KM=141 µM for RRKDLHDDEEDEAMSIYA peptide1 Publication

Vmax=76 µmol/min/mg enzyme with RRKDLHDDEEDEAMSIYpA peptide as substrate1 Publication

Vmax=66 µmol/min/mg enzyme with RRKDLHDDEEDEAMSIYA peptide as substrate1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei50 – 501ATPPROSITE-ProRule annotation
Active sitei141 – 1411Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi27 – 359ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. cilium assembly Source: UniProtKB
  3. peptidyl-serine phosphorylation Source: UniProtKB
  4. smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Cilium biogenesis/degradation

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

SignaLinkiQ6IQ55.

Names & Taxonomyi

Protein namesi
Recommended name:
Tau-tubulin kinase 2 (EC:2.7.11.1)
Gene namesi
Name:TTBK2
Synonyms:KIAA0847
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:19141. TTBK2.

Subcellular locationi

Cell projectioncilium By similarity. Cytoplasmcytoskeletoncilium basal body By similarity. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasmcytosol. Nucleus
Note: Localizes to the transition zone in primary cilia in response to cell cycle signals that promote ciliogenesis (By similarity). May also be present in cytosol and, at lower level in the nucleus.By similarity

GO - Cellular componenti

  1. centriole Source: Ensembl
  2. ciliary basal body Source: UniProtKB
  3. ciliary transition zone Source: UniProtKB
  4. cytosol Source: UniProtKB
  5. extracellular space Source: UniProt
  6. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti842 – 8421E → G Found in a patient with SCA11; unknown pathological significance. 1 Publication
Corresponds to variant rs202004988 [ dbSNP | Ensembl ].
VAR_069052
Natural varianti1110 – 11101R → H Found in a patient with SCA11; unknown pathological significance. 1 Publication
VAR_069053

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi50 – 501K → E or A: Leads to inactivation/destabilization of the protein. 1 Publication
Mutagenesisi143 – 1431K → E or A: Leads to inactivation/destabilization of the protein. 1 Publication
Mutagenesisi163 – 1631D → A: Abolishes serine/threonine-protein kinase activity. 1 Publication
Mutagenesisi181 – 1811R → E or A: Impaired serine/threonine-protein kinase activity. 1 Publication
Mutagenesisi184 – 1841A → E or G: Impaired serine/threonine-protein kinase activity. 1 Publication

Keywords - Diseasei

Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

MIMi604432. phenotype.
Orphaneti98767. Spinocerebellar ataxia type 11.
PharmGKBiPA134913925.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12441244Tau-tubulin kinase 2PRO_0000234342Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei786 – 7861Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6IQ55.
PaxDbiQ6IQ55.
PRIDEiQ6IQ55.

PTM databases

PhosphoSiteiQ6IQ55.

Expressioni

Gene expression databases

BgeeiQ6IQ55.
CleanExiHS_TTBK2.
ExpressionAtlasiQ6IQ55. baseline and differential.
GenevestigatoriQ6IQ55.

Organism-specific databases

HPAiHPA018113.

Interactioni

Subunit structurei

Binary interactionsi

WithEntry#Exp.IntActNotes
CEP164Q9UPV04EBI-1050303,EBI-3937015

Protein-protein interaction databases

BioGridi126962. 8 interactions.
IntActiQ6IQ55. 3 interactions.
STRINGi9606.ENSP00000267890.

Structurei

3D structure databases

ProteinModelPortaliQ6IQ55.
SMRiQ6IQ55. Positions 9-301.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini21 – 284264Protein kinasePROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi307 – 3148Poly-Thr
Compositional biasi1150 – 120354Ser-richAdd
BLAST

Sequence similaritiesi

Contains 1 protein kinase domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000119040.
HOGENOMiHOG000232043.
HOVERGENiHBG061812.
InParanoidiQ6IQ55.
KOiK08815.
OMAiHCKPSKN.
OrthoDBiEOG7RFTGM.
PhylomeDBiQ6IQ55.
TreeFamiTF351646.

Family and domain databases

InterProiIPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
[Graphical view]
PfamiPF00069. Pkinase. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6IQ55) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGGGEQLDI LSVGILVKER WKVLRKIGGG GFGEIYDALD MLTRENVALK
60 70 80 90 100
VESAQQPKQV LKMEVAVLKK LQGKDHVCRF IGCGRNDRFN YVVMQLQGRN
110 120 130 140 150
LADLRRSQSR GTFTISTTLR LGRQILESIE SIHSVGFLHR DIKPSNFAMG
160 170 180 190 200
RFPSTCRKCY MLDFGLARQF TNSCGDVRPP RAVAGFRGTV RYASINAHRN
210 220 230 240 250
REMGRHDDLW SLFYMLVEFV VGQLPWRKIK DKEQVGSIKE RYDHRLMLKH
260 270 280 290 300
LPPEFSIFLD HISSLDYFTK PDYQLLTSVF DNSIKTFGVI ESDPFDWEKT
310 320 330 340 350
GNDGSLTTTT TSTTPQLHTR LTPAAIGIAN ATPIPGDLLR ENTDEVFPDE
360 370 380 390 400
QLSDGENGIP VGVSPDKLPG SLGHPRPQEK DVWEEMDANK NKIKLGICKA
410 420 430 440 450
ATEEENSHGQ ANGLLNAPSL GSPIRVRSEI TQPDRDIPLV RKLRSIHSFE
460 470 480 490 500
LEKRLTLEPK PDTDKFLETC LEKMQKDTSA GKESILPALL HKPCVPAVSR
510 520 530 540 550
TDHIWHYDEE YLPDASKPAS ANTPEQADGG GSNGFIAVNL SSCKQEIDSK
560 570 580 590 600
EWVIVDKEQD LQDFRTNEAV GHKTTGSPSD EEPEVLQVLE ASPQDEKLQL
610 620 630 640 650
GPWAENDHLK KETSGVVLAL SAEGPPTAAS EQYTDRLELQ PGAASQFIAA
660 670 680 690 700
TPTSLMEAQA EGPLTAITIP RPSVASTQST SGSFHCGQQP EKKDLQPMEP
710 720 730 740 750
TVELYSPREN FSGLVVTEGE PPSGGSRTDL GLQIDHIGHD MLPNIRESNK
760 770 780 790 800
SQDLGPKELP DHNRLVVREF ENLPGETEEK SILLESDNED EKLSRGQHCI
810 820 830 840 850
EISSLPGDLV IVEKDHSATT EPLDVTKTQT FSVVPNQDKN NEIMKLLTVG
860 870 880 890 900
TSEISSRDID PHVEGQIGQV AEMQKNKISK DDDIMSEDLP GHQGDLSTFL
910 920 930 940 950
HQEGKREKIT PRNGELFHCV SENEHGAPTR KDMVRSSFVT RHSRIPVLAQ
960 970 980 990 1000
EIDSTLESSS PVSAKEKLLQ KKAYQPDLVK LLVEKRQFKS FLGDLSSASD
1010 1020 1030 1040 1050
KLLEEKLATV PAPFCEEEVL TPFSRLTVDS HLSRSAEDSF LSPIISQSRK
1060 1070 1080 1090 1100
SKIPRPVSWV NTDQVNSSTS SQFFPRPPPG KPPTRPGVEA RLRRYKVLGS
1110 1120 1130 1140 1150
SNSDSDLFSR LAQILQNGSQ KPRSTTQCKS PGSPHNPKTP PKSPVVPRRS
1160 1170 1180 1190 1200
PSASPRSSSL PRTSSSSPSR AGRPHHDQRS SSPHLGRSKS PPSHSGSSSS
1210 1220 1230 1240
RRSCQQEHCK PSKNGLKGSG SLHHHSASTK TPQGKSKPAS KLSR
Length:1,244
Mass (Da):137,412
Last modified:October 17, 2006 - v2
Checksum:iEAB8FC28370966DE
GO
Isoform 2 (identifier: Q6IQ55-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-72: MSGGGEQLDILSVGILVKERWKVLRKIGGGGFGEIYDALDMLTRENVALKVESAQQPKQVLKMEVAVLKKLQ → MES
     1233-1244: QGKSKPASKLSR → PREE

Note: No experimental confirmation available.

Show »
Length:1,167
Mass (Da):129,110
Checksum:i5517B88C9E5E86E9
GO
Isoform 3 (identifier: Q6IQ55-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     470-478: CLEKMQKDT → WYKIVYFSF
     479-1244: Missing.

Note: No experimental confirmation available.

Show »
Length:478
Mass (Da):54,037
Checksum:i2F3AF5039B6F021A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti309 – 3091T → I in BAD18523. (PubMed:14702039)Curated
Sequence conflicti456 – 4561T → A in BAD18523. (PubMed:14702039)Curated
Sequence conflicti557 – 5571K → N in BAD18523. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81L → P.3 Publications
Corresponds to variant rs6493068 [ dbSNP | Ensembl ].
VAR_041261
Natural varianti120 – 1201R → Q.1 Publication
Corresponds to variant rs35328266 [ dbSNP | Ensembl ].
VAR_041262
Natural varianti313 – 3131T → A.1 Publication
Corresponds to variant rs56017612 [ dbSNP | Ensembl ].
VAR_041263
Natural varianti440 – 4401V → M.1 Publication
Corresponds to variant rs56311523 [ dbSNP | Ensembl ].
VAR_041264
Natural varianti500 – 5001R → P.1 Publication
Corresponds to variant rs56039839 [ dbSNP | Ensembl ].
VAR_041265
Natural varianti635 – 6351D → G in a lung small cell carcinoma sample; somatic mutation. 1 Publication
VAR_041266
Natural varianti842 – 8421E → G Found in a patient with SCA11; unknown pathological significance. 1 Publication
Corresponds to variant rs202004988 [ dbSNP | Ensembl ].
VAR_069052
Natural varianti1062 – 10621T → I.1 Publication
Corresponds to variant rs55833708 [ dbSNP | Ensembl ].
VAR_041267
Natural varianti1084 – 10841T → M.1 Publication
Corresponds to variant rs34348991 [ dbSNP | Ensembl ].
VAR_041268
Natural varianti1097 – 10971V → A.1 Publication
Corresponds to variant rs55796513 [ dbSNP | Ensembl ].
VAR_041269
Natural varianti1110 – 11101R → H Found in a patient with SCA11; unknown pathological significance. 1 Publication
VAR_069053
Natural varianti1122 – 11221P → R.1 Publication
Corresponds to variant rs56142516 [ dbSNP | Ensembl ].
VAR_041270
Natural varianti1241 – 12411K → T.1 Publication
Corresponds to variant rs36104367 [ dbSNP | Ensembl ].
VAR_041271

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7272MSGGG…LKKLQ → MES in isoform 2. 1 PublicationVSP_018272Add
BLAST
Alternative sequencei470 – 4789CLEKMQKDT → WYKIVYFSF in isoform 3. 1 PublicationVSP_018273
Alternative sequencei479 – 1244766Missing in isoform 3. 1 PublicationVSP_018274Add
BLAST
Alternative sequencei1233 – 124412QGKSK…SKLSR → PREE in isoform 2. 1 PublicationVSP_018275Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK131372 mRNA. Translation: BAD18523.1.
AC068727 Genomic DNA. No translation available.
AC090510 Genomic DNA. No translation available.
BC041876 mRNA. Translation: AAH41876.1.
BC071556 mRNA. Translation: AAH71556.1.
AB020654 mRNA. Translation: BAA74870.1.
CCDSiCCDS42029.1. [Q6IQ55-1]
RefSeqiNP_775771.3. NM_173500.3. [Q6IQ55-1]
UniGeneiHs.646511.
Hs.727864.
Hs.733489.

Genome annotation databases

EnsembliENST00000267890; ENSP00000267890; ENSG00000128881. [Q6IQ55-1]
ENST00000567840; ENSP00000455734; ENSG00000128881. [Q6IQ55-3]
GeneIDi146057.
KEGGihsa:146057.
UCSCiuc001zqo.2. human. [Q6IQ55-1]
uc001zqp.3. human. [Q6IQ55-3]

Polymorphism databases

DMDMi116242833.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK131372 mRNA. Translation: BAD18523.1 .
AC068727 Genomic DNA. No translation available.
AC090510 Genomic DNA. No translation available.
BC041876 mRNA. Translation: AAH41876.1 .
BC071556 mRNA. Translation: AAH71556.1 .
AB020654 mRNA. Translation: BAA74870.1 .
CCDSi CCDS42029.1. [Q6IQ55-1 ]
RefSeqi NP_775771.3. NM_173500.3. [Q6IQ55-1 ]
UniGenei Hs.646511.
Hs.727864.
Hs.733489.

3D structure databases

ProteinModelPortali Q6IQ55.
SMRi Q6IQ55. Positions 9-301.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126962. 8 interactions.
IntActi Q6IQ55. 3 interactions.
STRINGi 9606.ENSP00000267890.

PTM databases

PhosphoSitei Q6IQ55.

Polymorphism databases

DMDMi 116242833.

Proteomic databases

MaxQBi Q6IQ55.
PaxDbi Q6IQ55.
PRIDEi Q6IQ55.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000267890 ; ENSP00000267890 ; ENSG00000128881 . [Q6IQ55-1 ]
ENST00000567840 ; ENSP00000455734 ; ENSG00000128881 . [Q6IQ55-3 ]
GeneIDi 146057.
KEGGi hsa:146057.
UCSCi uc001zqo.2. human. [Q6IQ55-1 ]
uc001zqp.3. human. [Q6IQ55-3 ]

Organism-specific databases

CTDi 146057.
GeneCardsi GC15M043030.
GeneReviewsi TTBK2.
H-InvDB HIX0012177.
HGNCi HGNC:19141. TTBK2.
HPAi HPA018113.
MIMi 604432. phenotype.
611695. gene.
neXtProti NX_Q6IQ55.
Orphaneti 98767. Spinocerebellar ataxia type 11.
PharmGKBi PA134913925.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000119040.
HOGENOMi HOG000232043.
HOVERGENi HBG061812.
InParanoidi Q6IQ55.
KOi K08815.
OMAi HCKPSKN.
OrthoDBi EOG7RFTGM.
PhylomeDBi Q6IQ55.
TreeFami TF351646.

Enzyme and pathway databases

SignaLinki Q6IQ55.

Miscellaneous databases

GeneWikii TTBK2.
GenomeRNAii 146057.
NextBioi 85251.
PROi Q6IQ55.
SOURCEi Search...

Gene expression databases

Bgeei Q6IQ55.
CleanExi HS_TTBK2.
ExpressionAtlasi Q6IQ55. baseline and differential.
Genevestigatori Q6IQ55.

Family and domain databases

InterProi IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
[Graphical view ]
Pfami PF00069. Pkinase. 1 hit.
[Graphical view ]
SUPFAMi SSF56112. SSF56112. 1 hit.
PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Cerebellum.
  2. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT PRO-8.
    Tissue: Testis.
  4. "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:355-364(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 600-1244 (ISOFORM 1).
    Tissue: Brain.
  5. "Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11."
    Houlden H., Johnson J., Gardner-Thorpe C., Lashley T., Hernandez D., Worth P., Singleton A.B., Hilton D.A., Holton J., Revesz T., Davis M.B., Giunti P., Wood N.W.
    Nat. Genet. 39:1434-1436(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN SCA11.
  6. "TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development."
    Bouskila M., Esoof N., Gay L., Fang E.H., Deak M., Begley M.J., Cantley L.C., Prescott A., Storey K.G., Alessi D.R.
    Biochem. J. 437:157-167(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, MUTAGENESIS OF LYS-50; LYS-143; ASP-163; ARG-181 AND ALA-184.
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-786, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."
    Chaki M., Airik R., Ghosh A.K., Giles R.H., Chen R., Slaats G.G., Wang H., Hurd T.W., Zhou W., Cluckey A., Gee H.Y., Ramaswami G., Hong C.J., Hamilton B.A., Cervenka I., Ganji R.S., Bryja V., Arts H.H.
    , van Reeuwijk J., Oud M.M., Letteboer S.J., Roepman R., Husson H., Ibraghimov-Beskrovnaya O., Yasunaga T., Walz G., Eley L., Sayer J.A., Schermer B., Liebau M.C., Benzing T., Le Corre S., Drummond I., Janssen S., Allen S.J., Natarajan S., O'Toole J.F., Attanasio M., Saunier S., Antignac C., Koenekoop R.K., Ren H., Lopez I., Nayir A., Stoetzel C., Dollfus H., Massoudi R., Gleeson J.G., Andreoli S.P., Doherty D.G., Lindstrad A., Golzio C., Katsanis N., Pape L., Abboud E.B., Al-Rajhi A.A., Lewis R.A., Omran H., Lee E.Y., Wang S., Sekiguchi J.M., Saunders R., Johnson C.A., Garner E., Vanselow K., Andersen J.S., Shlomai J., Nurnberg G., Nurnberg P., Levy S., Smogorzewska A., Otto E.A., Hildebrandt F.
    Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CEP164.
  9. "The spinocerebellar ataxia-associated gene tau tubulin kinase 2 controls the initiation of ciliogenesis."
    Goetz S.C., Liem K.F. Jr., Anderson K.V.
    Cell 151:847-858(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  10. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] PRO-8; GLN-120; ALA-313; MET-440; PRO-500; GLY-635; ILE-1062; MET-1084; ALA-1097; ARG-1122 AND THR-1241.
  11. Cited for: VARIANTS PRO-8; GLY-842 AND HIS-1110.

Entry informationi

Entry nameiTTBK2_HUMAN
AccessioniPrimary (citable) accession number: Q6IQ55
Secondary accession number(s): O94932, Q6ZN52, Q8IVV1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 17, 2006
Last modified: October 29, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3