Format

Send to:

Choose Destination

TBCK TBC1 domain containing kinase [ Homo sapiens (human) ]

Gene ID: 93627, updated on 24-Nov-2020

Summary

Official Symbol
TBCKprovided by HGNC
Official Full Name
TBC1 domain containing kinaseprovided by HGNC
Primary source
HGNC:HGNC:28261
See related
Ensembl:ENSG00000145348 MIM:616899
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TBCKL; IHPRF3; HSPC302
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 5.5), thyroid (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See TBCK in Genome Data Viewer
Location:
4q24
Exon count:
34
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (106041599..106316683, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (106967233..107237861, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929577 Neighboring gene Sharpr-MPRA regulatory region 11278 Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Neighboring gene GIMAP family P-loop NTPase domain containing 1 Neighboring gene long intergenic non-protein coding RNA 2173

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
GeneReviews: Not available
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
MedGen: C4225161 OMIM: 616900 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC16169

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding NAS
Non-traceable Author Statement
more info
PubMed 
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein kinase activity NAS
Non-traceable Author Statement
more info
PubMed 
small GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT protein phosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TBC domain-containing protein kinase-like protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034057.3 RefSeqGene

    Range
    5475..280085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163435.3NP_001156907.2  TBC domain-containing protein kinase-like protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC093680, AC107381, AC109361, AC114734
    Consensus CDS
    CCDS54788.1
    Related
    ENSP00000378198.2, ENST00000394708.7
    Conserved Domains (3) summary
    smart00164
    Location:467671
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:43273
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:771882
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
  2. NM_001163436.4NP_001156908.2  TBC domain-containing protein kinase-like protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC109361, AC114734, AI279137, AK074305, DB223368
    Consensus CDS
    CCDS54788.1
    Related
    ENSP00000273980.4, ENST00000273980.10
    Conserved Domains (3) summary
    smart00164
    Location:467671
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:43273
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:771882
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
  3. NM_001163437.3NP_001156909.2  TBC domain-containing protein kinase-like protein isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform b) compared to isoform a.
    Source sequence(s)
    AC093680, AC107381, AC109361, AC114734
    Consensus CDS
    CCDS54789.1
    Related
    ENSP00000378196.3, ENST00000394706.7
    Conserved Domains (3) summary
    smart00164
    Location:428632
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd01525
    Location:732843
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
    cl21453
    Location:43234
    PKc_like; Protein Kinases, catalytic domain
  4. NM_001290768.2NP_001277697.2  TBC domain-containing protein kinase-like protein isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate exon compared to variant 1. This variant represents translation initiation at a downstream AUG compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream AUG resulting in a protein with a shorter N-terminus (isoform d) compared to isoform a.
    Source sequence(s)
    AC093680, AC107381, AC109361, AC114734
    Conserved Domains (3) summary
    smart00164
    Location:295499
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd01525
    Location:599710
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
    cl21453
    Location:10101
    PKc_like; Protein Kinases, catalytic domain
  5. NM_033115.5NP_149106.3  TBC domain-containing protein kinase-like protein isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two in-frame exons in the 5' coding region compared to variant 1. This results in a shorter protein (isoform c) compared to isoform a.
    Source sequence(s)
    AC093680, AC107381, AC109361, AC114734
    Consensus CDS
    CCDS3673.1
    Related
    ENSP00000355338.4, ENST00000361687.8
    Conserved Domains (3) summary
    smart00164
    Location:404608
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd01525
    Location:708819
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
    cl21453
    Location:91210
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    106041599..106316683 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008846.1XP_016864335.1  TBC domain-containing protein kinase-like protein isoform X1

    UniProtKB/Swiss-Prot
    Q8TEA7
    Conserved Domains (3) summary
    smart00164
    Location:467671
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:43273
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:771882
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
  2. XM_011532417.2XP_011530719.1  TBC domain-containing protein kinase-like protein isoform X1

    See identical proteins and their annotated locations for XP_011530719.1

    UniProtKB/Swiss-Prot
    Q8TEA7
    Conserved Domains (3) summary
    smart00164
    Location:467671
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:43273
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:771882
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
  3. XM_024454281.1XP_024310049.1  TBC domain-containing protein kinase-like protein isoform X1

    Conserved Domains (3) summary
    smart00164
    Location:467671
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:43273
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:771882
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
  4. XM_017008849.1XP_016864338.1  TBC domain-containing protein kinase-like protein isoform X4

    Conserved Domains (3) summary
    smart00164
    Location:295499
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd01525
    Location:599710
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
    cl21453
    Location:10101
    PKc_like; Protein Kinases, catalytic domain
  5. XM_017008848.1XP_016864337.1  TBC domain-containing protein kinase-like protein isoform X3

    Conserved Domains (4) summary
    smart00164
    Location:361565
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:1167
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:665776
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
    cl21453
    Location:3165
    PKc_like; Protein Kinases, catalytic domain
  6. XM_024454282.1XP_024310050.1  TBC domain-containing protein kinase-like protein isoform X1

    Conserved Domains (3) summary
    smart00164
    Location:467671
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    smart00220
    Location:43273
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd01525
    Location:771882
    RHOD_Kc; Member of the Rhodanese Homology Domain superfamily. Included in this CD are the rhodanese-like domains found C-terminal of the serine/threonine protein kinases catalytic (S_TKc) domain and the Tre-2, BUB2p, Cdc16p (TBC) domain. The putative active site ...
  7. XM_017008847.2XP_016864336.1  TBC domain-containing protein kinase-like protein isoform X2

RNA

  1. XR_002959772.1 RNA Sequence

  2. XR_001741353.2 RNA Sequence

  3. XR_938800.3 RNA Sequence

  4. XR_001741354.2 RNA Sequence

Support Center