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Protein

TBC domain-containing protein kinase-like protein

Gene

TBCK

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

Functioni

Involved in the modulation of mTOR signaling and expression of mTOR complex components (PubMed:27040691, PubMed:23977024). Involved in the regulation of cell proliferation and growth (PubMed:23977024, PubMed:24576458). Involved in the control of actin-cytoskeleton organization (PubMed:23977024).3 Publications

GO - Molecular functioni

  • ATP binding Source: UniProtKB
  • GTPase activator activity Source: GO_Central
  • protein kinase activity Source: UniProtKB
  • Rab GTPase binding Source: GO_Central

GO - Biological processi

Enzyme and pathway databases

SignaLinkiQ8TEA7

Names & Taxonomyi

Protein namesi
Recommended name:
TBC domain-containing protein kinase-like protein
Gene namesi
Name:TBCK1 Publication
Synonyms:TBCKL
ORF Names:HSPC302
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000145348.16
HGNCiHGNC:28261 TBCK
MIMi616899 gene
neXtProtiNX_Q8TEA7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 (IHPRF3)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurodevelopmental disorder characterized by profound developmental disability, intellectual disability and severe hypotonia. Many patients have seizures, and show brain atrophy, dysgenesis of the corpus callosum and white-matter changes on neuroimaging. Non-specific facial dysmorphism is noted in some individuals.
See also OMIM:616900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077816511R → H in IHPRF3. 1 PublicationCorresponds to variant dbSNP:rs869320711EnsemblClinVar.1
Natural variantiVAR_077817551L → P in IHPRF3. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi93627
MalaCardsiTBCK
MIMi616900 phenotype
OpenTargetsiENSG00000145348
PharmGKBiPA165664603

Polymorphism and mutation databases

BioMutaiTBCK
DMDMi317373548

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002732781 – 893TBC domain-containing protein kinase-like proteinAdd BLAST893

Proteomic databases

EPDiQ8TEA7
MaxQBiQ8TEA7
PaxDbiQ8TEA7
PeptideAtlasiQ8TEA7
PRIDEiQ8TEA7
ProteomicsDBi74430
74431 [Q8TEA7-2]
74432 [Q8TEA7-3]

PTM databases

iPTMnetiQ8TEA7
PhosphoSitePlusiQ8TEA7

Expressioni

Gene expression databases

BgeeiENSG00000145348 Expressed in 202 organ(s), highest expression level in kidney
ExpressionAtlasiQ8TEA7 baseline and differential
GenevisibleiQ8TEA7 HS

Organism-specific databases

HPAiHPA039951
HPA051611

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125042, 7 interactors
IntActiQ8TEA7, 2 interactors
STRINGi9606.ENSP00000273980

Structurei

3D structure databases

ProteinModelPortaliQ8TEA7
SMRiQ8TEA7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 273Protein kinasePROSITE-ProRule annotationAdd BLAST273
Domaini466 – 651Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST186
Domaini790 – 889RhodanesePROSITE-ProRule annotationAdd BLAST100

Domaini

The protein kinase domain is predicted to be catalytically inactive.Sequence analysis

Sequence similaritiesi

Belongs to the protein kinase superfamily.Curated

Phylogenomic databases

eggNOGiKOG1093 Eukaryota
ENOG410Y9M1 LUCA
GeneTreeiENSGT00860000133753
HOVERGENiHBG055536
InParanoidiQ8TEA7
KOiK17544
OMAiIRGKHER
OrthoDBiEOG091G02PV
PhylomeDBiQ8TEA7
TreeFamiTF106242

Family and domain databases

Gene3Di3.40.250.10, 1 hit
InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR001763 Rhodanese-like_dom
IPR036873 Rhodanese-like_dom_sf
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
PF00566 RabGAP-TBC, 1 hit
PF00581 Rhodanese, 1 hit
SMARTiView protein in SMART
SM00450 RHOD, 1 hit
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
SSF52821 SSF52821, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS50206 RHODANESE_3, 1 hit
PS50086 TBC_RABGAP, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q8TEA7-1) [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
MFPLKDAEMG AFTFFASALP HDVCGSNGLP LTPNSIKILG RFQILKTITH
60 70 80 90 100
PRLCQYVDIS RGKHERLVVV AEHCERSLED LLRERKPVSC STVLCIAFEV
110 120 130 140 150
LQGLQYMNKH GIVHRALSPH NILLDRKGHI KLAKFGLYHM TAHGDDVDFP
160 170 180 190 200
IGYPSYLAPE VIAQGIFKTT DHMPSKKPLP SGPKSDVWSL GIILFELCVG
210 220 230 240 250
RKLFQSLDIS ERLKFLLTLD CVDDTLIVLA EEHGCLDIIK ELPETVIDLL
260 270 280 290 300
NKCLTFHPSK RPTPDQLMKD KVFSEVSPLY TPFTKPASLF SSSLRCADLT
310 320 330 340 350
LPEDISQLCK DINNDYLAER SIEEVYYLWC LAGGDLEKEL VNKEIIRSKP
360 370 380 390 400
PICTLPNFLF EDGESFGQGR DRSSLLDDTT VTLSLCQLRN RLKDVGGEAF
410 420 430 440 450
YPLLEDDQSN LPHSNSNNEL SAAATLPLII REKDTEYQLN RIILFDRLLK
460 470 480 490 500
AYPYKKNQIW KEARVDIPPL MRGLTWAALL GVEGAIHAKY DAIDKDTPIP
510 520 530 540 550
TDRQIEVDIP RCHQYDELLS SPEGHAKFRR VLKAWVVSHP DLVYWQGLDS
560 570 580 590 600
LCAPFLYLNF NNEALAYACM SAFIPKYLYN FFLKDNSHVI QEYLTVFSQM
610 620 630 640 650
IAFHDPELSN HLNEIGFIPD LYAIPWFLTM FTHVFPLHKI FHLWDTLLLG
660 670 680 690 700
NSSFPFCIGV AILQQLRDRL LANGFNECIL LFSDLPEIDI ERCVRESINL
710 720 730 740 750
FCWTPKSATY RQHAQPPKPS SDSSGGRSSA PYFSAECPDP PKTDLSRESI
760 770 780 790 800
PLNDLKSEVS PRISAEDLID LCELTVTGHF KTPSKKTKSS KPKLLVVDIR
810 820 830 840 850
NSEDFIRGHI SGSINIPFSA AFTAEGELTQ GPYTAMLQNF KGKVIVIVGH
860 870 880 890
VAKHTAEFAA HLVKMKYPRI CILDGGINKI KPTGLLTIPS PQI
Length:893
Mass (Da):100,679
Last modified:January 11, 2011 - v4
Checksum:i7B5A11E37A49D03B
GO
Isoform 21 Publication (identifier: Q8TEA7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     161-199: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:854
Mass (Da):96,443
Checksum:iDBF6940FE6D8D60C
GO
Isoform 31 Publication (identifier: Q8TEA7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     89-152: SCSTVLCIAFEVLQGLQYMNKHGIVHRALSPHNILLDRKGHIKLAKFGLYHMTAHGDDVDFPIG → R

Note: No experimental confirmation available.Curated
Show »
Length:830
Mass (Da):93,725
Checksum:i010755C970CC33F1
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5HYF5Q5HYF5_HUMAN
TBC domain-containing protein kinas...
TBCK DKFZp313C1916
153Annotation score:
D6RDG2D6RDG2_HUMAN
TBC domain-containing protein kinas...
TBCK
159Annotation score:
H0Y959H0Y959_HUMAN
TBC domain-containing protein kinas...
TBCK
85Annotation score:
D6RDY5D6RDY5_HUMAN
TBC domain-containing protein kinas...
TBCK
105Annotation score:
D6RC61D6RC61_HUMAN
TBC domain-containing protein kinas...
TBCK
56Annotation score:
H0Y8U7H0Y8U7_HUMAN
TBC domain-containing protein kinas...
TBCK
139Annotation score:
D6R950D6R950_HUMAN
TBC domain-containing protein kinas...
TBCK
68Annotation score:
H0YA45H0YA45_HUMAN
TBC domain-containing protein kinas...
TBCK
24Annotation score:

Sequence cautioni

The sequence AAF28980 differs from that shown. Reason: Frameshift at positions 507, 516, 660, 665 and 672.Curated
The sequence BAC05244 differs from that shown. intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti601I → N in AAF28980 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04138066R → L1 PublicationCorresponds to variant dbSNP:rs35784409Ensembl.1
Natural variantiVAR_041381151I → M1 PublicationCorresponds to variant dbSNP:rs35835241Ensembl.1
Natural variantiVAR_041382265D → N1 PublicationCorresponds to variant dbSNP:rs34770077Ensembl.1
Natural variantiVAR_030123266Q → E4 PublicationsCorresponds to variant dbSNP:rs3775091Ensembl.1
Natural variantiVAR_041383425T → M1 PublicationCorresponds to variant dbSNP:rs34307452Ensembl.1
Natural variantiVAR_041384471M → I1 PublicationCorresponds to variant dbSNP:rs34961213Ensembl.1
Natural variantiVAR_030124489K → N1 PublicationCorresponds to variant dbSNP:rs2305685Ensembl.1
Natural variantiVAR_041385503R → I in a colorectal adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_077816511R → H in IHPRF3. 1 PublicationCorresponds to variant dbSNP:rs869320711EnsemblClinVar.1
Natural variantiVAR_077817551L → P in IHPRF3. 1 Publication1
Natural variantiVAR_041386692R → C1 PublicationCorresponds to variant dbSNP:rs35790205Ensembl.1
Natural variantiVAR_041387806I → V in a head & Neck squamous cell carcinoma sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05227489 – 152SCSTV…DFPIG → R in isoform 3. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_052275161 – 199Missing in isoform 2. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449876 mRNA Translation: BAH16619.1
AK074305 mRNA Translation: BAB85045.1
AK098157 mRNA Translation: BAC05244.1 Sequence problems.
AC093680 Genomic DNA No translation available.
AC107381 Genomic DNA Translation: AAY40979.1
AC109361 Genomic DNA No translation available.
AC114734 Genomic DNA Translation: AAY41041.1
AC125469 Genomic DNA No translation available.
AP001820 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX06201.1
BC009208 mRNA Translation: AAH09208.2
BC020853 mRNA Translation: AAH20853.2
BC068496 mRNA Translation: AAH68496.1
AF161420 mRNA Translation: AAF28980.1 Frameshift.
CCDSiCCDS3673.1 [Q8TEA7-3]
CCDS54788.1 [Q8TEA7-1]
CCDS54789.1 [Q8TEA7-2]
RefSeqiNP_001156907.1, NM_001163435.2
NP_001156908.1, NM_001163436.2
NP_001156909.1, NM_001163437.2
NP_149106.2, NM_033115.4
XP_011530719.1, XM_011532417.2 [Q8TEA7-1]
XP_016864335.1, XM_017008846.1 [Q8TEA7-1]
UniGeneiHs.151498
Hs.292986

Genome annotation databases

EnsembliENST00000273980; ENSP00000273980; ENSG00000145348 [Q8TEA7-1]
ENST00000361687; ENSP00000355338; ENSG00000145348 [Q8TEA7-3]
ENST00000394706; ENSP00000378196; ENSG00000145348 [Q8TEA7-2]
ENST00000394708; ENSP00000378198; ENSG00000145348 [Q8TEA7-1]
ENST00000432496; ENSP00000405847; ENSG00000145348 [Q8TEA7-1]
GeneIDi93627
KEGGihsa:93627
UCSCiuc003hyc.3 human [Q8TEA7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB449876 mRNA Translation: BAH16619.1
AK074305 mRNA Translation: BAB85045.1
AK098157 mRNA Translation: BAC05244.1 Sequence problems.
AC093680 Genomic DNA No translation available.
AC107381 Genomic DNA Translation: AAY40979.1
AC109361 Genomic DNA No translation available.
AC114734 Genomic DNA Translation: AAY41041.1
AC125469 Genomic DNA No translation available.
AP001820 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX06201.1
BC009208 mRNA Translation: AAH09208.2
BC020853 mRNA Translation: AAH20853.2
BC068496 mRNA Translation: AAH68496.1
AF161420 mRNA Translation: AAF28980.1 Frameshift.
CCDSiCCDS3673.1 [Q8TEA7-3]
CCDS54788.1 [Q8TEA7-1]
CCDS54789.1 [Q8TEA7-2]
RefSeqiNP_001156907.1, NM_001163435.2
NP_001156908.1, NM_001163436.2
NP_001156909.1, NM_001163437.2
NP_149106.2, NM_033115.4
XP_011530719.1, XM_011532417.2 [Q8TEA7-1]
XP_016864335.1, XM_017008846.1 [Q8TEA7-1]
UniGeneiHs.151498
Hs.292986

3D structure databases

ProteinModelPortaliQ8TEA7
SMRiQ8TEA7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125042, 7 interactors
IntActiQ8TEA7, 2 interactors
STRINGi9606.ENSP00000273980

PTM databases

iPTMnetiQ8TEA7
PhosphoSitePlusiQ8TEA7

Polymorphism and mutation databases

BioMutaiTBCK
DMDMi317373548

Proteomic databases

EPDiQ8TEA7
MaxQBiQ8TEA7
PaxDbiQ8TEA7
PeptideAtlasiQ8TEA7
PRIDEiQ8TEA7
ProteomicsDBi74430
74431 [Q8TEA7-2]
74432 [Q8TEA7-3]

Protocols and materials databases

DNASUi93627
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273980; ENSP00000273980; ENSG00000145348 [Q8TEA7-1]
ENST00000361687; ENSP00000355338; ENSG00000145348 [Q8TEA7-3]
ENST00000394706; ENSP00000378196; ENSG00000145348 [Q8TEA7-2]
ENST00000394708; ENSP00000378198; ENSG00000145348 [Q8TEA7-1]
ENST00000432496; ENSP00000405847; ENSG00000145348 [Q8TEA7-1]
GeneIDi93627
KEGGihsa:93627
UCSCiuc003hyc.3 human [Q8TEA7-1]

Organism-specific databases

CTDi93627
DisGeNETi93627
EuPathDBiHostDB:ENSG00000145348.16
GeneCardsiTBCK
HGNCiHGNC:28261 TBCK
HPAiHPA039951
HPA051611
MalaCardsiTBCK
MIMi616899 gene
616900 phenotype
neXtProtiNX_Q8TEA7
OpenTargetsiENSG00000145348
PharmGKBiPA165664603
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1093 Eukaryota
ENOG410Y9M1 LUCA
GeneTreeiENSGT00860000133753
HOVERGENiHBG055536
InParanoidiQ8TEA7
KOiK17544
OMAiIRGKHER
OrthoDBiEOG091G02PV
PhylomeDBiQ8TEA7
TreeFamiTF106242

Enzyme and pathway databases

SignaLinkiQ8TEA7

Miscellaneous databases

ChiTaRSiTBCK human
GenomeRNAii93627
PROiPR:Q8TEA7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145348 Expressed in 202 organ(s), highest expression level in kidney
ExpressionAtlasiQ8TEA7 baseline and differential
GenevisibleiQ8TEA7 HS

Family and domain databases

Gene3Di3.40.250.10, 1 hit
InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR001763 Rhodanese-like_dom
IPR036873 Rhodanese-like_dom_sf
PfamiView protein in Pfam
PF00069 Pkinase, 1 hit
PF00566 RabGAP-TBC, 1 hit
PF00581 Rhodanese, 1 hit
SMARTiView protein in SMART
SM00450 RHOD, 1 hit
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
SSF52821 SSF52821, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS50206 RHODANESE_3, 1 hit
PS50086 TBC_RABGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTBCK_HUMAN
AccessioniPrimary (citable) accession number: Q8TEA7
Secondary accession number(s): B9A6J1
, Q4W5B3, Q4W5E1, Q6NUP4, Q8N7M8, Q8WW57, Q96GV6, Q9P080
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 11, 2011
Last modified: September 12, 2018
This is version 133 of the entry and version 4 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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