O60662 (KBTBA_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 101.
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: Kelch repeat and BTB domain-containing protein 10 Alternative name(s): Kel-like protein 23 Kelch-related protein 1 Sarcosin | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 606 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Required for pseudopod elongation in transformed cells. Substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Ref.6 |
| Pathway | |
| Subunit structure | Interacts with NRAP By similarity. Part of a complex that contains CUL3, RBX1 and KBTBD10. |
| Subcellular location | Cytoplasm. Cytoplasm › cytoskeleton. Cell projection › pseudopodium. Cell projection › ruffle. Note: Predominantly cytoplasmic but can co-localize with F-actin at the membrane ruffle-like structures at the tips of transformation-specific pseudopodia. |
| Tissue specificity | Sarcomeric muscle. |
| Post-translational modification | Ubiquitinated and probably targeted for proteasome-independent degradation. Ref.6 |
| Sequence similarities | Contains 1 BTB (POZ) domain. Contains 5 Kelch repeats. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ubl conjugation pathway |
| Cellular component | Cell projection Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Kelch repeat Repeat |
| PTM | Ubl conjugation |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | striated muscle contraction Traceable author statement. Source: ProtInc |
| Cellular component | centrosome Inferred from direct assay. Source: HPA nucleolusInferred from direct assay. Source: HPA plasma membraneInferred from direct assay. Source: HPA pseudopodiumInferred from electronic annotation. Source: UniProtKB-SubCell ruffleInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: O60662-1) 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 Short (identifier: O60662-2) The sequence of this isoform differs from the canonical sequence as follows: 1-11: MDSQRELAEEL → M |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 606 | 606 | Kelch repeat and BTB domain-containing protein 10 | PRO_0000119088 | |||||
Regions | |||||||||
| Domain | 33 – 100 | 68 | BTB | ||||||
| Repeat | 346 – 398 | 53 | Kelch 1 | ||||||
| Repeat | 399 – 447 | 49 | Kelch 2 | ||||||
| Repeat | 448 – 495 | 48 | Kelch 3 | ||||||
| Repeat | 497 – 542 | 46 | Kelch 4 | ||||||
| Repeat | 544 – 599 | 56 | Kelch 5 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 11 | 11 | MDSQRELAEEL → M in isoform Short. | VSP_002819 | |||||
| Natural variant | 271 | 1 | A → T. Corresponds to variant rs28763868 [ dbSNP | Ensembl ]. | VAR_050046 | |||||
| Natural variant | 481 | 1 | M → V. Corresponds to variant rs34623017 [ dbSNP | Ensembl ]. | VAR_050047 | |||||
Experimental info | |||||||||
| Sequence conflict | 304 | 1 | D → G in AAC13686. Ref.1 | ||||||
| Sequence conflict | 358 | 1 | E → K in AAC13686. Ref.1 | ||||||
| Sequence conflict | 361 | 1 | D → V in AAC13686. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "DNA sequence and muscle-specific expression of human sarcosin transcripts." Taylor A., Obholz K., Linden G., Sadiev S., Klaus S., Carlson K.D. Mol. Cell. Biochem. 183:105-112(1998) [PubMed: 9655184] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT). |
| [2] | "Krp1, a novel kelch related protein that is involved in pseudopod elongation in transformed cells." Spence H.J., Johnston I.P., Ewart K., Buchanan S.J., Fitzgerald U., Ozanne B.W. Oncogene 19:1266-1276(2000) [PubMed: 10713668] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Skeletal muscle. |
| [3] | "Mammalian Kel or Kel-like proteins related to ovarian development and differentiation." Zhuang D., Gunnarsson D., Toffia O., Lind M., Lundgren P., Selstam G. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). |
| [4] | "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: 15815621] [Abstract] 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). Tissue: Muscle. |
| [6] | "Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway." Zhang D.D., Lo S.C., Sun Z., Habib G.M., Lieberman M.W., Hannink M. J. Biol. Chem. 280:30091-30099(2005) [PubMed: 15983046] [Abstract] Cited for: FUNCTION AS A E3 UBIQUITIN-PROTEIN LIGASE, IDENTIFICATION IN A COMPLEX WITH CUL3 AND RBX1, UBIQUITINATION. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF056929 mRNA. Translation: AAC13686.1. AF333387 mRNA. Translation: AAG52886.1. AC093899 Genomic DNA. Translation: AAY24117.1. BC006534 mRNA. Translation: AAH06534.1. |
| IPI | IPI00030986. IPI00220297. |
| RefSeq | NP_006054.2. NM_006063.2. |
| UniGene | Hs.50550. |
3D structure databases | |
| ProteinModelPortal | O60662. |
| SMR | O60662. Positions 13-259, 289-606. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | O60662. |
PTM databases | |
| PhosphoSite | O60662. |
Proteomic databases | |
| PRIDE | O60662. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000284669; ENSP00000284669; ENSG00000239474. |
| GeneID | 10324. |
| KEGG | hsa:10324. |
| UCSC | uc002ueu.1. human. |
Organism-specific databases | |
| CTD | 10324. |
| GeneCards | GC02P170366. |
| HGNC | HGNC:16905. KBTBD10. |
| HPA | HPA021165. HPA021753. HPA021760. |
| MIM | 607701. gene. |
| neXtProt | NX_O60662. |
| PharmGKB | PA134950205. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG05169. |
| HOGENOM | HBG445638. |
| HOVERGEN | HBG052215. |
| InParanoid | O60662. |
| OMA | TNKWEVM. |
| OrthoDB | EOG4SJ5DD. |
| PhylomeDB | O60662. |
Gene expression databases | |
| ArrayExpress | O60662. |
| Bgee | O60662. |
| CleanEx | HS_KBTBD10. |
| Genevestigator | O60662. |
| GermOnline | ENSG00000154474. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR017096. Kelch-like_gigaxonin. IPR015915. Kelch-typ_b-propeller. IPR006652. Kelch_1. [Graphical view] |
| Gene3D | G3DSA:3.30.710.10. BTB/POZ_fold. 1 hit. G3DSA:2.120.10.80. Kelch-typ_b-propeller. 1 hit. |
| KO | K10473. |
| Pfam | PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 3 hits. [Graphical view] |
| PIRSF | PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit. |
| SMART | SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 4 hits. [Graphical view] |
| SUPFAM | SSF54695. BTB/POZ_fold. 1 hit. |
| PROSITE | PS50097. BTB. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 39135. |
| SOURCE | Search... |
Entry information
| Entry name | KBTBA_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60662 Secondary accession number(s): Q53R42 | ||||||||
| 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 chromosome 2 Human chromosome 2: 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 |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PATHWAY comments Index of metabolic and biosynthesis pathways |
| SIMILARITY comments Index of protein domains and families |

Clusters with