• Gene id: 84630

Gene Summary

• Gene Symbol: TTBK1   Gene   UCSC   Ensembl
• Aliases: BDTK
• Gene name: tau tubulin kinase 1
• Alternate names: tau-tubulin kinase 1, brain-derived tau kinase,
• Gene location: 6p21.1 (43243480: 43288258)     Exons: 17     NC_000006.12
• Gene summary(Entrez): Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them
• OMIM: 604472

Protein Summary

• Protein general information: Q5TCY1  
  • Name: Tau tubulin kinase 1 (EC 2.7.11.1) (Brain derived tau kinase)
  • Length: 1321  
  • Mass: 142737
  • Tissue specificity: Expressed in the brain, particularly in cortical and hippocampal neurons. Weakly expressed in spinal cord and testis. No expression in adipose tissue, bladder, cervix, colon, esophagus, heart, kidney, liver, lung, ovary, placenta, pros
• Sequence:

  MQCLAAALKDETNMSGGGEQADILPANYVVKDRWKVLKKIGGGGFGEIYEAMDLLTRENVALKVESAQQPKQVLK
  MEVAVLKKLQGKDHVCRFIGCGRNEKFNYVVMQLQGRNLADLRRSQPRGTFTLSTTLRLGKQILESIEAIHSVGF
  LHRDIKPSNFAMGRLPSTYRKCYMLDFGLARQYTNTTGDVRPPRNVAGFRGTVRYASVNAHKNREMGRHDDLWSL
  FYMLVEFAVGQLPWRKIKDKEQVGMIKEKYEHRMLLKHMPSEFHLFLDHIASLDYFTKPDYQLIMSVFENSMKER
  GIAENEAFDWEKAGTDALLSTSTSTPPQQNTRQTAAMFGVVNVTPVPGDLLRENTEDVLQGEHLSDQENAPPILP
  GRPSEGLGPSPHLVPHPGGPEAEVWEETDVNRNKLRINIGKSPCVEEEQSRGMGVPSSPVRAPPDSPTTPVRSLR
  YRRVNSPESERLSTADGRVELPERRSRMDLPGSPSRQACSSQPAQMLSVDTGHADRQASGRMDVSASVEQEALSN
  AFRSVPLAEEEDFDSKEWVIIDKETELKDFPPGAEPSTSGTTDEEPEELRPLPEEGEERRRLGAEPTVRPRGRSM
  QALAEEDLQHLPPQPLPPQLSQGDGRSETSQPPTPGSPSHSPLHSGPRPRRRESDPTGPQRQVFSVAPPFEVNGL
  PRAVPLSLPYQDFKRDLSDYRERARLLNRVRRVGFSHMLLTTPQVPLAPVQPQANGKEEEEEEEEDEEEEEEDEE
  EEEEEEEEEEEEEEEEEEEEEAAAAVALGEVLGPRSGSSSEGSERSTDRSQEGAPSTLLADDQKESRGRASMADG
  DLEPEEGSKTLVLVSPGDMKKSPVTAELAPDPDLGTLAALTPQHERPQPTGSQLDVSEPGTLSSVLKSEPKPPGP
  GAGLGAGTVTTGVGGVAVTSSPFTKVERTFVHIAEKTHLNVMSSGGQALRSEEFSAGGELGLELASDGGAVEEGA
  RAPLENGLALSGLNGAEIEGSALSGAPRETPSEMATNSLPNGPALADGPAPVSPLEPSPEKVATISPRRHAMPGS
  RPRSRIPVLLSEEDTGSEPSGSLSAKERWSKRARPQQDLARLVMEKRQGRLLLRLASGASSSSSEEQRRASETLS
  GTGSEEDTPASEPAAALPRKSGRAAATRSRIPRPIGLRMPMPVAAQQPASRSHGAAPALDTAITSRLQLQTPPGS
  ATAADLRPKQPPGRGLGPGRAQAGARPPAPRSPRLPASTSAARNASASPRSQSLSRRESPSPSHQARPGVPPPRG
  VPPARAQPDGTPSPGGSKKGPRGKLQAQRATTKGRAGGAEGRAGAR

• Structural information:
  • Protein Domains: (34..29-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR042714  
  • Prosite: PS00107 PS50011
  • CDD: cd14130
  • PDB: 4BTJ 4BTK 4BTM 4NFM 4NFN
  • PDBsum: 4BTJ 4BTK 4BTM 4NFM 4NFN
  • STRING: ENSP00000259750
• Other Databases: GeneCards:  TTBK1  Malacards:  TTBK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061890	positive regulation of astrocyte activation	IC	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0050321	tau-protein kinase activity	IDA	molecular function
GO:0005875	microtubule associated complex	IC	cellular component
GO:0004674	protein serine/threonine kinase activity	IDA	molecular function
GO:0043025	neuronal cell body	IDA	cellular component
GO:0048156	tau protein binding	IPI	molecular function
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0007611	learning or memory	IMP	biological process
GO:0032273	positive regulation of protein polymerization	IDA	biological process
GO:0006468	protein phosphorylation	IMP	biological process
GO:1903980	positive regulation of microglial cell activation	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:1904031	positive regulation of cyclin-dependent protein kinase activity	IMP	biological process
GO:2001056	positive regulation of cysteine-type endopeptidase activity	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0032091	negative regulation of protein binding	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IBA	biological process
GO:0018105	peptidyl-serine phosphorylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0021762	substantia nigra development	HEP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq