Seroatlas · Human Serome Atlas

TTBK1

Tau-tubulin kinase 1

Also known as: KIAA1855, TTBK1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5TCY1
Gene: TTBK1
Ensembl: ENSG00000146216
Chromosome: 6
Canonical length: 1321 aa
Protein class: Enzymes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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. Genetic variants in this gene are associated with Alzheimer's disease. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

1321 residues, UniProt reviewed canonical sequence.

>Q5TCY1|TTBK1
     1  MQCLAAALKD ETNMSGGGEQ ADILPANYVV KDRWKVLKKI GGGGFGEIYE AMDLLTRENV
    61  ALKVESAQQP KQVLKMEVAV LKKLQGKDHV CRFIGCGRNE KFNYVVMQLQ GRNLADLRRS
   121  QPRGTFTLST TLRLGKQILE SIEAIHSVGF LHRDIKPSNF AMGRLPSTYR KCYMLDFGLA
   181  RQYTNTTGDV RPPRNVAGFR GTVRYASVNA HKNREMGRHD DLWSLFYMLV EFAVGQLPWR
   241  KIKDKEQVGM IKEKYEHRML LKHMPSEFHL FLDHIASLDY FTKPDYQLIM SVFENSMKER
   301  GIAENEAFDW EKAGTDALLS TSTSTPPQQN TRQTAAMFGV VNVTPVPGDL LRENTEDVLQ
   361  GEHLSDQENA PPILPGRPSE GLGPSPHLVP HPGGPEAEVW EETDVNRNKL RINIGKSPCV
   421  EEEQSRGMGV PSSPVRAPPD SPTTPVRSLR YRRVNSPESE RLSTADGRVE LPERRSRMDL
   481  PGSPSRQACS SQPAQMLSVD TGHADRQASG RMDVSASVEQ EALSNAFRSV PLAEEEDFDS
   541  KEWVIIDKET ELKDFPPGAE PSTSGTTDEE PEELRPLPEE GEERRRLGAE PTVRPRGRSM
   601  QALAEEDLQH LPPQPLPPQL SQGDGRSETS QPPTPGSPSH SPLHSGPRPR RRESDPTGPQ
   661  RQVFSVAPPF EVNGLPRAVP LSLPYQDFKR DLSDYRERAR LLNRVRRVGF SHMLLTTPQV
   721  PLAPVQPQAN GKEEEEEEEE DEEEEEEDEE EEEEEEEEEE EEEEEEEEEE EAAAAVALGE
   781  VLGPRSGSSS EGSERSTDRS QEGAPSTLLA DDQKESRGRA SMADGDLEPE EGSKTLVLVS
   841  PGDMKKSPVT AELAPDPDLG TLAALTPQHE RPQPTGSQLD VSEPGTLSSV LKSEPKPPGP
   901  GAGLGAGTVT TGVGGVAVTS SPFTKVERTF VHIAEKTHLN VMSSGGQALR SEEFSAGGEL
   961  GLELASDGGA VEEGARAPLE NGLALSGLNG AEIEGSALSG APRETPSEMA TNSLPNGPAL
  1021  ADGPAPVSPL EPSPEKVATI SPRRHAMPGS RPRSRIPVLL SEEDTGSEPS GSLSAKERWS
  1081  KRARPQQDLA RLVMEKRQGR LLLRLASGAS SSSSEEQRRA SETLSGTGSE EDTPASEPAA
  1141  ALPRKSGRAA ATRSRIPRPI GLRMPMPVAA QQPASRSHGA APALDTAITS RLQLQTPPGS
  1201  ATAADLRPKQ PPGRGLGPGR AQAGARPPAP RSPRLPASTS AARNASASPR SQSLSRRESP
  1261  SPSHQARPGV PPPRGVPPAR AQPDGTPSPG GSKKGPRGKL QAQRATTKGR AGGAEGRAGA
  1321  R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TTBK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.58
Highest tissue expression: 15 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 15 nTPM
cerebellum: 13 nTPM
hippocampal formation: 8.9 nTPM
amygdala: 8.8 nTPM
basal ganglia: 8.8 nTPM
pituitary gland: 7.2 nTPM

Single-cell type

retinal horizontal cells: 42 nCPM
lactotrophs: 37 nCPM
thyrotrophs: 29 nCPM
somatotrophs: 29 nCPM
retinal bipolar cells: 26 nCPM
oligodendrocytes: 24 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 63 nTPM
amygdala: 49 nTPM
hippocampal formation: 47 nTPM
white matter: 46 nTPM
basal ganglia: 42 nTPM
thalamus: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TTBK1.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 251 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Childhood-onset schizophrenia
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.23
gnomAD pLI: 1
gnomAD missense Z: 2.63
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

learning or memory
negative regulation of gene expression
positive regulation of gene expression
positive regulation of microglial cell activation
positive regulation of protein polymerization
signal transduction
substantia nigra development
positive regulation of astrocyte activation

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Protein kinase domain
Protein kinase-like domain superfamily
Protein kinase, ATP binding site
Casein kinase 1/Serine/threonine-protein kinase-like
Protein kinase domain
Tau-tubulin kinase 1, catalytic domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TTBK1 as an antibody target. Whether an autoantibody or antibody against TTBK1 could matter depends on whether native TTBK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TTBK1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TTBK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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