TBCK
TBC domain-containing protein kinase-like protein
Also known as: HSPC302, MGC16169, TBCK_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TEA7
- Gene
- TBCK
- Ensembl
- ENSG00000145348
- Chromosome
- 4
- Canonical length
- 893 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli fibrillar center
OverviewNCBI Gene
This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Canonical amino-acid sequenceUniProt
893 residues, UniProt reviewed canonical sequence.
>Q8TEA7|TBCK
1 MFPLKDAEMG AFTFFASALP HDVCGSNGLP LTPNSIKILG RFQILKTITH PRLCQYVDIS
61 RGKHERLVVV AEHCERSLED LLRERKPVSC STVLCIAFEV LQGLQYMNKH GIVHRALSPH
121 NILLDRKGHI KLAKFGLYHM TAHGDDVDFP IGYPSYLAPE VIAQGIFKTT DHMPSKKPLP
181 SGPKSDVWSL GIILFELCVG RKLFQSLDIS ERLKFLLTLD CVDDTLIVLA EEHGCLDIIK
241 ELPETVIDLL NKCLTFHPSK RPTPDQLMKD KVFSEVSPLY TPFTKPASLF SSSLRCADLT
301 LPEDISQLCK DINNDYLAER SIEEVYYLWC LAGGDLEKEL VNKEIIRSKP PICTLPNFLF
361 EDGESFGQGR DRSSLLDDTT VTLSLCQLRN RLKDVGGEAF YPLLEDDQSN LPHSNSNNEL
421 SAAATLPLII REKDTEYQLN RIILFDRLLK AYPYKKNQIW KEARVDIPPL MRGLTWAALL
481 GVEGAIHAKY DAIDKDTPIP TDRQIEVDIP RCHQYDELLS SPEGHAKFRR VLKAWVVSHP
541 DLVYWQGLDS LCAPFLYLNF NNEALAYACM SAFIPKYLYN FFLKDNSHVI QEYLTVFSQM
601 IAFHDPELSN HLNEIGFIPD LYAIPWFLTM FTHVFPLHKI FHLWDTLLLG NSSFPFCIGV
661 AILQQLRDRL LANGFNECIL LFSDLPEIDI ERCVRESINL FCWTPKSATY RQHAQPPKPS
721 SDSSGGRSSA PYFSAECPDP PKTDLSRESI PLNDLKSEVS PRISAEDLID LCELTVTGHF
781 KTPSKKTKSS KPKLLVVDIR NSEDFIRGHI SGSINIPFSA AFTAEGELTQ GPYTAMLQNF
841 KGKVIVIVGH VAKHTAEFAA HLVKMKYPRI CILDGGINKI KPTGLLTIPS PQILocalizationUniProt · AlphaFold · HPA
Whether an antibody against TBCK 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)
- 0.27
- Highest tissue expression
- 8.5 nTPM
Expression across tissuesHPA
Tissue
- ovary: 8.5 nTPM
- retina: 7 nTPM
- adipose tissue: 6.9 nTPM
- adrenal gland: 6.2 nTPM
- kidney: 5.9 nTPM
- choroid plexus: 5.7 nTPM
Single-cell type
- choroid plexus epithelial cells: 373 nCPM
- gonadotrophs: 317 nCPM
- distal convoluted tubule cells: 309 nCPM
- thyrotrophs: 307 nCPM
- lactotrophs: 302 nCPM
- somatotrophs: 289 nCPM
Immune cell
- basophil: 14 nTPM
- naive B-cell: 8 nTPM
- memory CD8 T-cell: 6.4 nTPM
- intermediate monocyte: 5.7 nTPM
- MAIT T-cell: 5.5 nTPM
- naive CD4 T-cell: 5.5 nTPM
Brain region
- cerebellum: 44 nTPM
- white matter: 40 nTPM
- choroid plexus: 39 nTPM
- hypothalamus: 35 nTPM
- cerebral cortex: 34 nTPM
- medulla oblongata: 33 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TBCK.
Disease | AllUniProt
Conditions TBCK is implicated in, by any mechanism.
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3) MIM:616900
Disease | GeneticClinVar
102 pathogenic / likely-pathogenic of 930 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
- TBCK-related disorder
- Inborn genetic diseases
- Abnormality of the nervous system
- Syndromic Infantile Encephalopathy
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)
- 0.87
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.5
- DepMap mean gene effect
- 0.05
- 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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TBCK as an antibody target. Whether an autoantibody or antibody against TBCK could matter depends on whether native TBCK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TBCK 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 TBCK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...