• Gene id: 93627

Gene Summary

• Gene Symbol: TBCK   Gene   UCSC   Ensembl
• Aliases: HSPC302, IHPRF3, TBCKL
• Gene name: TBC1 domain containing kinase
• Alternate names: TBC domain-containing protein kinase-like protein,
• Gene location: 4q24 (32531777: 32604078)     Exons: 9     NC_000005.10
• Gene summary(Entrez): 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 mam
• OMIM: 616899

Protein Summary

• Protein general information: Q8TEA7  
  • Name: TBC domain containing protein kinase like protein
  • Length: 893  
  • Mass: 100679
• Sequence:

  MFPLKDAEMGAFTFFASALPHDVCGSNGLPLTPNSIKILGRFQILKTITHPRLCQYVDISRGKHERLVVVAEHCE
  RSLEDLLRERKPVSCSTVLCIAFEVLQGLQYMNKHGIVHRALSPHNILLDRKGHIKLAKFGLYHMTAHGDDVDFP
  IGYPSYLAPEVIAQGIFKTTDHMPSKKPLPSGPKSDVWSLGIILFELCVGRKLFQSLDISERLKFLLTLDCVDDT
  LIVLAEEHGCLDIIKELPETVIDLLNKCLTFHPSKRPTPDQLMKDKVFSEVSPLYTPFTKPASLFSSSLRCADLT
  LPEDISQLCKDINNDYLAERSIEEVYYLWCLAGGDLEKELVNKEIIRSKPPICTLPNFLFEDGESFGQGRDRSSL
  LDDTTVTLSLCQLRNRLKDVGGEAFYPLLEDDQSNLPHSNSNNELSAAATLPLIIREKDTEYQLNRIILFDRLLK
  AYPYKKNQIWKEARVDIPPLMRGLTWAALLGVEGAIHAKYDAIDKDTPIPTDRQIEVDIPRCHQYDELLSSPEGH
  AKFRRVLKAWVVSHPDLVYWQGLDSLCAPFLYLNFNNEALAYACMSAFIPKYLYNFFLKDNSHVIQEYLTVFSQM
  IAFHDPELSNHLNEIGFIPDLYAIPWFLTMFTHVFPLHKIFHLWDTLLLGNSSFPFCIGVAILQQLRDRLLANGF
  NECILLFSDLPEIDIERCVRESINLFCWTPKSATYRQHAQPPKPSSDSSGGRSSAPYFSAECPDPPKTDLSRESI
  PLNDLKSEVSPRISAEDLIDLCELTVTGHFKTPSKKTKSSKPKLLVVDIRNSEDFIRGHISGSINIPFSAAFTAE
  GELTQGPYTAMLQNFKGKVIVIVGHVAKHTAEFAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI

• Structural information:
  • Protein Domains: (1..27-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (466..65-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163-)
    (790..88-)
    (/note="Rhodanese-)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR011009  IPR000719  IPR000195  IPR035969  IPR001763   IPR036873  
  • Prosite: PS50011 PS50206 PS50086
  • STRING: ENSP00000273980
• Other Databases: GeneCards:  TBCK  Malacards:  TBCK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0030496	midbody	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030036	actin cytoskeleton organization	IMP	biological process
GO:0008283	cell population proliferation	IMP	biological process
GO:0032006	regulation of TOR signaling	IMP	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005524	ATP binding	NAS	molecular function
GO:0006468	protein phosphorylation	NAS	NOT|biological process
GO:0004672	protein kinase activity	NAS	molecular function

Diseases

Associated diseases	References
Infantile hypotonia with psychomotor retardation and characteristic facies	KEGG:H01922
Infantile hypotonia with psychomotor retardation and characteristic facies	KEGG:H01922
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray