Q9P2N7 (KLH13_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 103.
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-like protein 13 Alternative name(s): BTB and kelch domain-containing protein 2 | ||||
| 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 | 655 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis. Ref.7 Ref.8 Ref.9 |
| Pathway | |
| Subunit structure | Component of the BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL9, KLHL13 and RBX1. Interacts with AURKB. Ref.7 Ref.8 |
| Sequence similarities | Contains 1 BACK (BTB/Kelch associated) domain. Contains 1 BTB (POZ) domain. Contains 6 Kelch repeats. |
| Sequence caution | The sequence BAA92547.1 differs from that shown. Reason: Erroneous initiation. The sequence CAC41335.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cell cycle Cell division Mitosis Ubl conjugation pathway |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Kelch repeat Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | cytokinesis Inferred from mutant phenotype Ref.8. Source: UniProtKB mitosisInferred from electronic annotation. Source: UniProtKB-KW protein ubiquitinationInferred from direct assay Ref.8. Source: UniProtKB |
| Cellular_component | Cul3-RING ubiquitin ligase complex Inferred from direct assay Ref.8. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P2N7-1) 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 (identifier: Q9P2N7-2) The sequence of this isoform differs from the canonical sequence as follows: 1-42: Missing. | ||||||
| Isoform 3 (identifier: Q9P2N7-3) The sequence of this isoform differs from the canonical sequence as follows: 1-33: MPLKWKTSSPAIWKFPVPVLKTSRSTPLSPAYI → MDHLHRGELVAAILRNR | ||||||
| Isoform 4 (identifier: Q9P2N7-4) The sequence of this isoform differs from the canonical sequence as follows: 1-33: MPLKWKTSSPAIWKFPVPVLKTSRSTPLSPAYI → MLRFISHLYCCSSKEDCSEDDKCILSR | ||||||
| Isoform 5 (identifier: Q9P2N7-5) The sequence of this isoform differs from the canonical sequence as follows: 1-33: MPLKWKTSSPAIWKFPVPVLKTSRSTPLSPAYI → MMRVQTLREKWAYWRRRQLSLKQADFKDIFKKSTSG |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 655 | 655 | Kelch-like protein 13 | PRO_0000119115 | |||||
Regions | |||||||||
| Domain | 92 – 161 | 70 | BTB | ||||||
| Domain | 196 – 297 | 102 | BACK | ||||||
| Repeat | 341 – 389 | 49 | Kelch 1 | ||||||
| Repeat | 390 – 441 | 52 | Kelch 2 | ||||||
| Repeat | 442 – 488 | 47 | Kelch 3 | ||||||
| Repeat | 490 – 535 | 46 | Kelch 4 | ||||||
| Repeat | 537 – 587 | 51 | Kelch 5 | ||||||
| Repeat | 588 – 636 | 49 | Kelch 6 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 42 | 42 | Missing in isoform 2. | VSP_037530 | |||||
| Alternative sequence | 1 – 33 | 33 | MPLKW…SPAYI → MDHLHRGELVAAILRNR in isoform 3. | VSP_037531 | |||||
| Alternative sequence | 1 – 33 | 33 | MPLKW…SPAYI → MLRFISHLYCCSSKEDCSED DKCILSR in isoform 4. | VSP_037532 | |||||
| Alternative sequence | 1 – 33 | 33 | MPLKW…SPAYI → MMRVQTLREKWAYWRRRQLS LKQADFKDIFKKSTSG in isoform 5. | VSP_037533 | |||||
| Natural variant | 223 | 1 | F → I Found in a renal cell carcinoma sample; somatic mutation. Ref.10 | VAR_064725 | |||||
Experimental info | |||||||||
| Sequence conflict | 14 | 1 | K → R in BAG54189. Ref.3 | ||||||
| Sequence conflict | 20 | 1 | L → P in BAG54189. Ref.3 | ||||||
| Sequence conflict | 352 | 1 | Q → R in BAG54189. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [2] | Howell G.R., Huckle E., Ross M.T. Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Testis. |
| [3] | "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] (ISOFORMS 1; 2; 3; 4 AND 5). Tissue: Brain, Testis and Thalamus. |
| [4] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM 1). Tissue: Brain. |
| [7] | "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases." Furukawa M., He Y.J., Borchers C., Xiong Y. Nat. Cell Biol. 5:1001-1007(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION AS AN E3 UBIQUITIN-PROTEIN LIGASE, INTERACTION WITH CUL3. |
| [8] | "A Cul3-based E3 ligase removes Aurora B from mitotic chromosomes, regulating mitotic progression and completion of cytokinesis in human cells." Sumara I., Quadroni M., Frei C., Olma M.H., Sumara G., Ricci R., Peter M. Dev. Cell 12:887-900(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH AURKB; CUL3 AND KLHL9. |
| [9] | "The Cul3-KLHL21 E3 ubiquitin ligase targets aurora B to midzone microtubules in anaphase and is required for cytokinesis." Maerki S., Olma M.H., Staubli T., Steigemann P., Gerlich D.W., Quadroni M., Sumara I., Peter M. J. Cell Biol. 187:791-800(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION. |
| [10] | "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma." Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. Futreal P.A.Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT ILE-223. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AB037730 mRNA. Translation: BAA92547.1. Different initiation. AL591986 mRNA. Translation: CAC41335.1. Different initiation. AK122724 mRNA. Translation: BAG53690.1. AK125356 mRNA. Translation: BAG54189.1. AK296324 mRNA. Translation: BAH12315.1. AK299257 mRNA. Translation: BAH12978.1. AK302713 mRNA. Translation: BAH13788.1. AC006968 Genomic DNA. No translation available. AC006963 Genomic DNA. Translation: AAF03529.1. CH471161 Genomic DNA. Translation: EAW89898.1. CH471161 Genomic DNA. Translation: EAW89900.1. BC064576 mRNA. Translation: AAH64576.2. |
| IPI | IPI00002398. IPI00644859. IPI00930289. IPI00930469. IPI00930551. |
| RefSeq | NP_001161771.1. NM_001168299.1. NP_001161772.1. NM_001168300.1. NP_001161773.1. NM_001168301.1. NP_001161774.1. NM_001168302.1. NP_001161775.1. NM_001168303.1. NP_277030.2. NM_033495.3. |
| UniGene | Hs.348262. |
3D structure databases | |
| ProteinModelPortal | Q9P2N7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9P2N7. 13 interactions. |
PTM databases | |
| PhosphoSite | Q9P2N7. |
Polymorphism databases | |
| DMDM | 239938883. |
Proteomic databases | |
| PaxDb | Q9P2N7. |
| PRIDE | Q9P2N7. |
Protocols and materials databases | |
| DNASU | 90293. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262820; ENSP00000262820; ENSG00000003096. ENST00000371876; ENSP00000360943; ENSG00000003096. ENST00000371878; ENSP00000360945; ENSG00000003096. ENST00000371882; ENSP00000360949; ENSG00000003096. ENST00000447671; ENSP00000412640; ENSG00000003096. ENST00000469946; ENSP00000419803; ENSG00000003096. ENST00000539496; ENSP00000443191; ENSG00000003096. ENST00000540167; ENSP00000441029; ENSG00000003096. ENST00000541812; ENSP00000444450; ENSG00000003096. ENST00000545703; ENSP00000440707; ENSG00000003096. |
| GeneID | 90293. |
| KEGG | hsa:90293. |
| UCSC | uc004eqk.3. human. uc011mto.2. human. uc011mtp.2. human. uc011mtq.2. human. |
Organism-specific databases | |
| CTD | 90293. |
| GeneCards | GC0XM117031. |
| H-InvDB | HIX0056474. |
| HGNC | HGNC:22931. KLHL13. |
| HPA | HPA046039. |
| MIM | 300655. gene. |
| neXtProt | NX_Q9P2N7. |
| PharmGKB | PA134959204. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG293088. |
| HOVERGEN | HBG106526. |
| InParanoid | Q9P2N7. |
| KO | K10447. |
| OMA | GATRIFT. |
| OrthoDB | EOG447FSR. |
| PhylomeDB | Q9P2N7. |
Enzyme and pathway databases | |
| Pathway_Interaction_DB | aurora_b_pathway. Aurora B signaling. |
| Reactome | REACT_6900. Immune System. |
| UniPathway | UPA00143. |
Gene expression databases | |
| ArrayExpress | Q9P2N7. |
| Bgee | Q9P2N7. |
| CleanEx | HS_KLHL13. |
| Genevestigator | Q9P2N7. |
| GermOnline | ENSG00000003096. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.130.10.80. 1 hit. 3.30.710.10. 1 hit. |
| InterPro | IPR011705. BACK. IPR000210. BTB/POZ-like. IPR011333. BTB/POZ_fold. IPR013069. BTB_POZ. IPR015916. Gal_Oxidase_b-propeller. IPR017096. Kelch-like_gigaxonin. IPR006652. Kelch_1. [Graphical view] |
| Pfam | PF07707. BACK. 1 hit. PF00651. BTB. 1 hit. PF01344. Kelch_1. 5 hits. [Graphical view] |
| PIRSF | PIRSF037037. Kelch-like_protein_gigaxonin. 1 hit. |
| SMART | SM00875. BACK. 1 hit. SM00225. BTB. 1 hit. SM00612. Kelch. 6 hits. [Graphical view] |
| SUPFAM | SSF54695. BTB/POZ_fold. 1 hit. |
| PROSITE | PS50097. BTB. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | KLHL13. human. |
| GenomeRNAi | 90293. |
| NextBio | 76640. |
| SOURCE | Search... |
Entry information
| Entry name | KLH13_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P2N7 Secondary accession number(s): B3KV78 Q9UDN9 | ||||||||
| 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 X Human chromosome X: 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
