Q7Z7A1 (CNTRL_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: Centriolin Alternative name(s): Centrosomal protein 1 Centrosomal protein of 110 kDa Short name=Cep110 | ||||
| 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 | 2325 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Involved in cell cycle progression and cytokinesis. During the late steps of cytokinesis, anchors exocyst and SNARE complexes at the midbody, thereby allowing secretory vesicle-mediated abscission. Ref.2 Ref.9 |
| Subunit structure | Interacts with HOOK2. Interacts with EXOC6 and SNAPIN. Associates with the exocyst complex. Ref.9 Ref.10 |
| Subcellular location | Cytoplasm › cytoskeleton › centrosome. Note: During cytokinesis, localizes to a ring-like structure at the central midbody. Ref.1 Ref.2 Ref.8 |
| Tissue specificity | Highly expressed in testis and trachea. Ref.1 |
| Involvement in disease | A chromosomal aberration involving CEP110 may be a cause of stem cell myeloproliferative disorder (MPD). Translocation t(8;9)(p12;q33) with FGFR1. MPD is characterized by myeloid hyperplasia, eosinophilia and T-cell or B-cell lymphoblastic lymphoma. In general it progresses to acute myeloid leukemia. The fusion protein CEP110-FGFR1 is found in the cytoplasm, exhibits constitutive kinase activity and may be responsible for the transforming activity. |
| Sequence similarities | Contains 4 LRR (leucine-rich) repeats. Contains 1 LRRCT domain. |
| Sequence caution | The sequence AAH02932.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAH02932.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH89415.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cell cycle Cell division |
| Cellular component | Cytoplasm Cytoskeleton |
| Coding sequence diversity | Alternative splicing Chromosomal rearrangement Polymorphism |
| Domain | Coiled coil Leucine-rich repeat Repeat |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome cell divisionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular_component | centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cytosolTraceable author statement. Source: Reactome |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q7Z7A1-1) 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: Q7Z7A1-2) The sequence of this isoform differs from the canonical sequence as follows: 1-552: Missing. | ||||||
| Isoform 3 (identifier: Q7Z7A1-3) The sequence of this isoform differs from the canonical sequence as follows: 1-1331: Missing. | ||||||
| Isoform 4 (identifier: Q7Z7A1-4) The sequence of this isoform differs from the canonical sequence as follows: 1-1818: Missing. 1962-1986: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 5 (identifier: Q7Z7A1-5) The sequence of this isoform differs from the canonical sequence as follows: 1291-1296: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2325 | 2325 | Centriolin | PRO_0000323675 | |||||
Regions | |||||||||
| Repeat | 126 – 147 | 22 | LRR 1 | ||||||
| Repeat | 148 – 169 | 22 | LRR 2 | ||||||
| Repeat | 170 – 191 | 22 | LRR 3 | ||||||
| Repeat | 194 – 215 | 22 | LRR 4 | ||||||
| Domain | 228 – 266 | 39 | LRRCT | ||||||
| Region | 1948 – 2118 | 171 | Required for centrosome localization | ||||||
| Region | 1985 – 2325 | 341 | Sufficient for interaction with HOOK2 | ||||||
| Coiled coil | 267 – 343 | 77 | Potential | ||||||
| Coiled coil | 435 – 799 | 365 | Potential | ||||||
| Coiled coil | 851 – 1101 | 251 | Potential | ||||||
| Coiled coil | 1317 – 2255 | 939 | Potential | ||||||
| Compositional bias | 956 – 959 | 4 | Poly-Lys | ||||||
| Compositional bias | 1147 – 1150 | 4 | Poly-Pro | ||||||
| Compositional bias | 1236 – 1307 | 72 | Pro-rich | ||||||
Sites | |||||||||
| Site | 2139 – 2140 | 2 | Breakpoint for translocation to form CEP110-FGFR1 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 1818 | 1818 | Missing in isoform 4. | VSP_032046 | |||||
| Alternative sequence | 1 – 1331 | 1331 | Missing in isoform 3. | VSP_032047 | |||||
| Alternative sequence | 1 – 552 | 552 | Missing in isoform 2. | VSP_032048 | |||||
| Alternative sequence | 1291 – 1296 | 6 | Missing in isoform 5. | VSP_032049 | |||||
| Alternative sequence | 1962 – 1986 | 25 | Missing in isoform 4. | VSP_032050 | |||||
| Natural variant | 56 | 1 | V → I. Ref.2 Corresponds to variant rs10818503 [ dbSNP | Ensembl ]. | VAR_039559 | |||||
| Natural variant | 216 | 1 | P → L. Corresponds to variant rs10818504 [ dbSNP | Ensembl ]. | VAR_039560 | |||||
| Natural variant | 889 | 1 | A → T. Corresponds to variant rs17292952 [ dbSNP | Ensembl ]. | VAR_039561 | |||||
| Natural variant | 1146 | 1 | M → V. Corresponds to variant rs35342437 [ dbSNP | Ensembl ]. | VAR_061622 | |||||
Experimental info | |||||||||
| Sequence conflict | 1389 | 1 | Q → R in AAC32373. Ref.1 | ||||||
| Sequence conflict | 1699 | 1 | K → Q in AAC32373. Ref.1 | ||||||
| Sequence conflict | 1828 | 1 | E → D in AAC32373. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33)." Guasch G., Mack G.J., Popovici C., Dastugue N., Birnbaum D., Rattner J.B., Pebusque M.-J. Blood 95:1788-1796(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH FGFR1, SUBCELLULAR LOCATION. |
| [2] | "A novel human protein of the maternal centriole is required for the final stages of cytokinesis and entry into S phase." Gromley A., Jurczyk A., Sillibourne J., Halilovic E., Mogensen M., Groisman I., Blomberg M., Doxsey S.J. J. Cell Biol. 161:535-545(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-56, SUBCELLULAR LOCATION, FUNCTION. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Liver. |
| [4] | "DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. Dunham I.Nature 429:369-374(2004) [PubMed] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1513 (ISOFORM 2). Tissue: Lymph and Placenta. |
| [6] | "Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia." Guinn B.-A., Bland E.A., Lodi U., Liggins A.P., Tobal K., Petters S., Wells J.W., Banham A.H., Mufti G.J. Biochem. Biophys. Res. Commun. 335:1293-1304(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 434-1677 (ISOFORM 1). |
| [7] | "Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones." Jikuya H., Takano J., Kikuno R., Hirosawa M., Nagase T., Nomura N., Ohara O. DNA Res. 10:49-57(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 527-2325 (ISOFORM 5). Tissue: Spleen. |
| [8] | "CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation." Ou Y.Y., Mack G.J., Zhang M., Rattner J.B. J. Cell Sci. 115:1825-1835(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SUBCELLULAR LOCATION. |
| [9] | "Centriolin anchoring of exocyst and SNARE complexes at the midbody is required for secretory-vesicle-mediated abscission." Gromley A., Yeaman C., Rosa J., Redick S., Chen C.-T., Mirabelle S., Guha M., Sillibourne J., Doxsey S.J. Cell 123:75-87(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH EXOC6 AND SNAPIN. |
| [10] | "Hook2 localizes to the centrosome, binds directly to centriolin/CEP110 and contributes to centrosomal function." Szebenyi G., Hall B., Yu R., Hashim A.I., Kraemer H. Traffic 8:32-46(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH HOOK2. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF083322 mRNA. Translation: AAC32373.1. AF513978 mRNA. Translation: AAP43846.1. BX640927 mRNA. Translation: CAE45965.1. AL137068 Genomic DNA. Translation: CAI12358.1. AL137068 Genomic DNA. Translation: CAM13285.1. BC002932 mRNA. Translation: AAH02932.1. Sequence problems. BC089415 mRNA. Translation: AAH89415.1. Sequence problems. BC137286 mRNA. Translation: AAI37287.1. AY651261 mRNA. Translation: AAX35689.1. AK074079 mRNA. Translation: BAB84905.1. |
| IPI | IPI00376383. IPI00643703. IPI00657962. IPI00887632. IPI00888387. |
| RefSeq | NP_008949.4. NM_007018.4. |
| UniGene | Hs.653263. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1FOS based on UniProtKB P01100. |
| ProteinModelPortal | Q7Z7A1. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-47280N. |
| IntAct | Q7Z7A1. 17 interactions. |
PTM databases | |
| PhosphoSite | Q7Z7A1. |
Polymorphism databases | |
| DMDM | 172045911. |
Proteomic databases | |
| PaxDb | Q7Z7A1. |
| PRIDE | Q7Z7A1. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000238341; ENSP00000238341; ENSG00000119397. ENST00000373850; ENSP00000362956; ENSG00000119397. ENST00000373855; ENSP00000362962; ENSG00000119397. |
| GeneID | 11064. |
| KEGG | hsa:11064. |
| UCSC | uc004bkx.1. human. uc004blb.1. human. |
Organism-specific databases | |
| CTD | 11064. |
| GeneCards | GC09P123839. |
| H-InvDB | HIX0008344. |
| HGNC | HGNC:1858. CNTRL. |
| HPA | HPA020468. HPA020480. HPA051583. |
| MIM | 605496. gene. |
| neXtProt | NX_Q7Z7A1. |
| PharmGKB | PA26414. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG145909. |
| HOVERGEN | HBG101203. |
| InParanoid | Q7Z7A1. |
| KO | K16770. |
| OMA | DESPYIG. |
| OrthoDB | EOG48WC13. |
| PhylomeDB | Q7Z7A1. |
Enzyme and pathway databases | |
| Reactome | REACT_115566. Cell Cycle. REACT_116125. Disease. |
Gene expression databases | |
| ArrayExpress | Q7Z7A1. |
| Bgee | Q7Z7A1. |
| CleanEx | HS_CEP110. |
| Genevestigator | Q7Z7A1. |
Family and domain databases | |
| InterPro | IPR001611. Leu-rich_rpt. [Graphical view] |
| PROSITE | PS51450. LRR. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CNTRL. human. |
| GenomeRNAi | 11064. |
| NextBio | 42047. |
| SOURCE | Search... |
Entry information
| Entry name | CNTRL_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7Z7A1 Secondary accession number(s): A2A2Y1 Q9Y489 | ||||||||
| 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 9 Human chromosome 9: 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 |
| SIMILARITY comments Index of protein domains and families |

Clusters with
