Q8TEA7 (TBCK_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 83.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: TBC domain-containing protein kinase-like protein | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 893 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Domain | The protein kinase domain is predicted to be catalytically inactive. |
| Sequence similarities | Belongs to the protein kinase superfamily. Contains 1 protein kinase domain. Contains 1 Rab-GAP TBC domain. Contains 1 rhodanese domain. |
| Sequence caution | The sequence AAF28980.1 differs from that shown. Reason: Frameshift at positions 507, 516, 660, 665 and 672. The sequence BAC05244.1 differs from that shown. Reason: intron retention. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | positive regulation of Rab GTPase activity Inferred from electronic annotation. Source: GOC |
| Cellular_component | intracellular Inferred from electronic annotation. Source: InterPro |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: InterPro Rab GTPase activator activityInferred from electronic annotation. Source: InterPro transferase activity, transferring phosphorus-containing groupsInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 Ref.2 (identifier: Q8TEA7-1) 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. | ||||||
| Isoform 2 Ref.5 (identifier: Q8TEA7-2) The sequence of this isoform differs from the canonical sequence as follows: 161-199: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 Ref.5 (identifier: Q8TEA7-3) The sequence of this isoform differs from the canonical sequence as follows: 89-152: SCSTVLCIAFEVLQGLQYMNKHGIVHRALSPHNILLDRKGHIKLAKFGLYHMTAHGDDVDFPIG → R | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 893 | 893 | TBC domain-containing protein kinase-like protein | PRO_0000273278 | |||||
Regions | |||||||||
| Domain | 1 – 273 | 273 | Protein kinase | ||||||
| Domain | 466 – 651 | 186 | Rab-GAP TBC | ||||||
| Domain | 790 – 889 | 100 | Rhodanese | ||||||
Natural variations | |||||||||
| Alternative sequence | 89 – 152 | 64 | SCSTV…DFPIG → R in isoform 3. Ref.5 | VSP_052274 | |||||
| Alternative sequence | 161 – 199 | 39 | Missing in isoform 2. Ref.5 | VSP_052275 | |||||
| Natural variant | 66 | 1 | R → L. Ref.8 | VAR_041380 | |||||
| Natural variant | 151 | 1 | I → M. Ref.8 | VAR_041381 | |||||
| Natural variant | 265 | 1 | D → N. Ref.8 | VAR_041382 | |||||
| Natural variant | 266 | 1 | Q → E. Ref.1 Ref.2 Ref.3 Ref.6 Corresponds to variant rs3775091 [ dbSNP | Ensembl ]. | VAR_030123 | |||||
| Natural variant | 425 | 1 | T → M. Ref.8 | VAR_041383 | |||||
| Natural variant | 471 | 1 | M → I. Ref.8 | VAR_041384 | |||||
| Natural variant | 489 | 1 | K → N. Ref.8 Corresponds to variant rs2305685 [ dbSNP | Ensembl ]. | VAR_030124 | |||||
| Natural variant | 503 | 1 | R → I in a colorectal adenocarcinoma sample; somatic mutation. Ref.8 | VAR_041385 | |||||
| Natural variant | 692 | 1 | R → C. Ref.8 | VAR_041386 | |||||
| Natural variant | 806 | 1 | I → V in a head & Neck squamous cell carcinoma sample; somatic mutation. Ref.8 | VAR_041387 | |||||
Experimental info | |||||||||
| Sequence conflict | 601 | 1 | I → N in AAF28980. Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity." Ishibashi K., Kanno E., Itoh T., Fukuda M. Genes Cells 14:41-52(2009) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-266. Tissue: Brain. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 261-893 (ISOFORMS 1/2/3), VARIANT GLU-266. Tissue: Hepatoma and Trachea. |
| [3] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-266. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 608-893 (ISOFORMS 1/2/3). Tissue: Lymph, Placenta and Prostate. |
| [6] | "Human partial CDS from CD34+ stem cells." Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L., Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 388-893 (ISOFORMS 1/2/3), VARIANT GLU-266. Tissue: Umbilical cord blood. |
| [7] | "The protein kinase complement of the human genome." Manning G., Whyte D.B., Martinez R., Hunter T., Sudarsanam S. Science 298:1912-1934(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NOMENCLATURE. |
| [8] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-66; MET-151; ASN-265; MET-425; ILE-471; ASN-489; ILE-503; CYS-692 AND VAL-806. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00062810. IPI00291665. IPI00791217. |
| RefSeq | NP_001156907.1. NM_001163435.1. NP_001156908.1. NM_001163436.1. NP_001156909.1. NM_001163437.1. NP_149106.2. NM_033115.3. |
| UniGene | Hs.292986. |
3D structure databases | |
| ProteinModelPortal | Q8TEA7. |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q8TEA7. |
Polymorphism databases | |
| DMDM | 269849737. |
Proteomic databases | |
| PaxDb | Q8TEA7. |
| PRIDE | Q8TEA7. |
Protocols and materials databases | |
| DNASU | 93627. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000273980; ENSP00000273980; ENSG00000145348. ENST00000361687; ENSP00000355338; ENSG00000145348. ENST00000394706; ENSP00000378196; ENSG00000145348. ENST00000394708; ENSP00000378198; ENSG00000145348. ENST00000432496; ENSP00000405847; ENSG00000145348. |
| GeneID | 93627. |
| KEGG | hsa:93627. |
| UCSC | uc003hyb.2. human. uc003hyc.2. human. uc003hye.2. human. |
Organism-specific databases | |
| CTD | 93627. |
| GeneCards | GC04M106967. |
| HGNC | HGNC:28261. TBCK. |
| HPA | HPA039951. |
| neXtProt | NX_Q8TEA7. |
| PharmGKB | PA165664603. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG5210. |
| HOVERGEN | HBG055536. |
| InParanoid | Q8TEA7. |
| OMA | PRVCILD. |
| OrthoDB | EOG4NCMC1. |
| PhylomeDB | Q8TEA7. |
Gene expression databases | |
| ArrayExpress | Q8TEA7. |
| Bgee | Q8TEA7. |
| Genevestigator | Q8TEA7. |
Family and domain databases | |
| Gene3D | 3.40.250.10. 1 hit. |
| InterPro | IPR011009. Kinase-like_dom. IPR000719. Prot_kinase_cat_dom. IPR000195. Rab-GTPase-TBC_dom. IPR001763. Rhodanese-like_dom. [Graphical view] |
| Pfam | PF00069. Pkinase. 1 hit. PF00566. RabGAP-TBC. 1 hit. PF00581. Rhodanese. 1 hit. [Graphical view] |
| SMART | SM00450. RHOD. 1 hit. SM00164. TBC. 1 hit. [Graphical view] |
| SUPFAM | SSF56112. Kinase_like. 1 hit. SSF47923. RabGAP_TBC. 2 hits. SSF52821. Rhodanese-like. 1 hit. |
| PROSITE | PS50011. PROTEIN_KINASE_DOM. 1 hit. PS50206. RHODANESE_3. 1 hit. PS50086. TBC_RABGAP. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 93627. |
| NextBio | 78173. |
Entry information
| Entry name | TBCK_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TEA7 Secondary accession number(s): B9A6J1 Q9P080 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human and mouse protein kinases Human and mouse protein kinases: classification and index |
| Human chromosome 4 Human chromosome 4: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with
