O95613 (PCNT_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 125.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Pericentrin Alternative name(s): Kendrin Pericentrin-B | ||||
| 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 | 3336 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome. Ref.1 Ref.8 Ref.9 Ref.13 |
| Subunit structure | Interacts with CHD3. Interacts with CHD4; the interaction regulates centrosome integrity By similarity. Interacts with DISC1 and PCM1. Binds calmodulin. Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of PCNT and CDK5RAP2. Interacts with isoform 1 of NEK2. Ref.1 Ref.9 Ref.13 Ref.14 |
| Subcellular location | Cytoplasm › cytoskeleton › centrosome. Note: Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome. Ref.1 Ref.8 Ref.9 |
| Tissue specificity | Expressed in all tissues tested, including placenta, liver, kidney and thymus. Ref.8 |
| Domain | Composed of a coiled-coil central region flanked by non-helical N- and C-terminals. Ref.8 |
| Involvement in disease | Microcephalic osteodysplastic primordial dwarfism 2 (MOPD2) [MIM:210720]: Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. |
| Sequence caution | The sequence AAD10838.1 differs from that shown. Reason: Frameshift at position 3320. The sequence BAA23698.3 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAC04252.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DISC1 | Q9NRI5 | 5 | EBI-530012,EBI-529989 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O95613-1) 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: O95613-2) The sequence of this isoform differs from the canonical sequence as follows: 1-118: Missing. 2839-2917: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3336 | 3336 | Pericentrin | PRO_0000058257 | |||||
Regions | |||||||||
| Region | 2983 – 3246 | 264 | Interaction with NEK2 | ||||||
| Region | 3195 – 3208 | 14 | Calmodulin-binding | ||||||
| Coiled coil | 258 – 553 | 296 | Potential | ||||||
| Coiled coil | 675 – 835 | 161 | Potential | ||||||
| Coiled coil | 1010 – 1146 | 137 | Potential | ||||||
| Coiled coil | 1299 – 1949 | 651 | Potential | ||||||
| Coiled coil | 2064 – 2082 | 19 | Potential | ||||||
| Coiled coil | 2536 – 3086 | 551 | Potential | ||||||
| Compositional bias | 214 – 795 | 582 | Glu-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 191 | 1 | Phosphothreonine Ref.15 | ||||||
| Modified residue | 366 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 682 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 1712 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 2044 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 2177 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 2327 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 2477 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 2486 | 1 | Phosphoserine Ref.15 | ||||||
| Modified residue | 3302 | 1 | Phosphoserine Ref.15 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 118 | 118 | Missing in isoform 2. | VSP_040104 | |||||
| Alternative sequence | 2839 – 2917 | 79 | Missing in isoform 2. | VSP_040105 | |||||
| Natural variant | 539 | 1 | T → I. Corresponds to variant rs2249060 [ dbSNP | Ensembl ]. | VAR_043878 | |||||
| Natural variant | 704 | 1 | G → E. Ref.1 Ref.2 Ref.3 Corresponds to variant rs2839223 [ dbSNP | Ensembl ]. | VAR_043879 | |||||
| Natural variant | 879 | 1 | T → A. Ref.1 Corresponds to variant rs2839227 [ dbSNP | Ensembl ]. | VAR_043880 | |||||
| Natural variant | 1038 | 1 | V → A. Ref.1 Ref.3 Ref.7 Corresponds to variant rs6518289 [ dbSNP | Ensembl ]. | VAR_043881 | |||||
| Natural variant | 1163 | 1 | R → C. Corresponds to variant rs7279204 [ dbSNP | Ensembl ]. | VAR_043882 | |||||
| Natural variant | 1194 | 1 | A → T. Corresponds to variant rs35044802 [ dbSNP | Ensembl ]. | VAR_043883 | |||||
| Natural variant | 1639 | 1 | I → V. Corresponds to variant rs6518291 [ dbSNP | Ensembl ]. | VAR_043884 | |||||
| Natural variant | 1841 | 1 | N → S. Corresponds to variant rs35940413 [ dbSNP | Ensembl ]. | VAR_043885 | |||||
| Natural variant | 1953 | 1 | R → H. Corresponds to variant rs34268261 [ dbSNP | Ensembl ]. | VAR_043886 | |||||
| Natural variant | 1960 | 1 | R → Q. Corresponds to variant rs34813667 [ dbSNP | Ensembl ]. | VAR_043887 | |||||
| Natural variant | 2097 | 1 | L → P. Corresponds to variant rs2839245 [ dbSNP | Ensembl ]. | VAR_043888 | |||||
| Natural variant | 2125 | 1 | H → P. Corresponds to variant rs35978208 [ dbSNP | Ensembl ]. | VAR_043889 | |||||
| Natural variant | 2188 | 1 | M → R. Ref.1 Corresponds to variant rs1044998 [ dbSNP | Ensembl ]. | VAR_043890 | |||||
| Natural variant | 2191 | 1 | S → P. Corresponds to variant rs34151633 [ dbSNP | Ensembl ]. | VAR_043891 | |||||
| Natural variant | 2239 | 1 | W → R. Corresponds to variant rs35346764 [ dbSNP | Ensembl ]. | VAR_056961 | |||||
| Natural variant | 2274 | 1 | P → L. Corresponds to variant rs2070425 [ dbSNP | Ensembl ]. | VAR_056962 | |||||
| Natural variant | 2329 | 1 | P → R. Corresponds to variant rs35848602 [ dbSNP | Ensembl ]. | VAR_056963 | |||||
| Natural variant | 2361 | 1 | Q → R. Corresponds to variant rs7277175 [ dbSNP | Ensembl ]. | VAR_056964 | |||||
| Natural variant | 2549 | 1 | A → T. Ref.1 Corresponds to variant rs2839256 [ dbSNP | Ensembl ]. | VAR_056965 | |||||
| Natural variant | 2625 | 1 | R → Q. Corresponds to variant rs8131693 [ dbSNP | Ensembl ]. | VAR_056966 | |||||
| Natural variant | 2659 | 1 | Q → H. Corresponds to variant rs2070426 [ dbSNP | Ensembl ]. | VAR_056967 | |||||
| Natural variant | 2753 | 1 | R → H. Corresponds to variant rs743346 [ dbSNP | Ensembl ]. | VAR_056968 | |||||
| Natural variant | 2792 | 1 | Q → R. Corresponds to variant rs2073376 [ dbSNP | Ensembl ]. | VAR_056969 | |||||
| Natural variant | 2903 | 1 | A → T. Corresponds to variant rs35147998 [ dbSNP | Ensembl ]. | VAR_056970 | |||||
| Natural variant | 2975 | 1 | L → P. Corresponds to variant rs35881595 [ dbSNP | Ensembl ]. | VAR_056971 | |||||
| Natural variant | 3091 | 1 | S → G. Corresponds to variant rs4818842 [ dbSNP | Ensembl ]. | VAR_056972 | |||||
| Natural variant | 3245 | 1 | R → S. Corresponds to variant rs2073380 [ dbSNP | Ensembl ]. | VAR_056973 | |||||
Experimental info | |||||||||
| Mutagenesis | 3196 – 3197 | 2 | FR → AA: Decrease in calmodulin binding. | ||||||
| Mutagenesis | 3203 | 1 | V → A: Decrease in calmodulin binding. Ref.8 | ||||||
| Mutagenesis | 3208 – 3209 | 2 | RL → AA: Decrease in calmodulin binding. | ||||||
| Sequence conflict | 703 | 1 | Y → F in AAD10838. Ref.1 | ||||||
| Sequence conflict | 789 | 1 | F → L in AAD10838. Ref.1 | ||||||
| Sequence conflict | 819 | 1 | G → A in AAD10838. Ref.1 | ||||||
| Sequence conflict | 890 – 900 | 11 | Missing in AAD10838. Ref.1 | ||||||
| Sequence conflict | 967 | 1 | S → T in AAD10838. Ref.1 | ||||||
| Sequence conflict | 1024 | 1 | E → K in AAD10838. Ref.1 | ||||||
| Sequence conflict | 1036 | 1 | T → A in BAC04252. Ref.7 | ||||||
| Sequence conflict | 1287 | 1 | I → L in AAD10838. Ref.1 | ||||||
| Sequence conflict | 1317 | 1 | K → T in AAD10838. Ref.1 | ||||||
| Sequence conflict | 1534 | 1 | Q → H in AAD10838. Ref.1 | ||||||
| Sequence conflict | 3136 | 1 | Y → S in AAD10838. Ref.1 | ||||||
| Sequence conflict | 3300 | 1 | E → G in AAD10838. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1." Li Q., Hansen D., Killilea A., Joshi H.C., Palazzo R.E., Balczon R. J. Cell Sci. 114:797-809(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, VARIANTS GLU-704; ALA-879; ALA-1038; ARG-2188 AND THR-2549. |
| [2] | "Vertebrate centrosome proteins that share homology with yeast mitotic exit proteins are required for cytokinesis and cell cycle progression." Gromley A.S., Jurczyk A., Sillibourne J.E., Halilovic E., Doxsey S.J. Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLU-704. |
| [3] | "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro." Ishikawa K., Nagase T., Nakajima D., Seki N., Ohira M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:307-313(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS GLU-704 AND ALA-1038. Tissue: Brain. |
| [4] | "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract] Cited for: SEQUENCE REVISION TO 3023. |
| [5] | Ohara O. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [6] | "The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. Yaspo M.-L.Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "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] OF 787-1533 (ISOFORM 1), VARIANT ALA-1038. Tissue: Trachea. |
| [8] | "Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin." Flory M.R., Moser M.J., Monnat R.J. Jr., Davis T.N. Proc. Natl. Acad. Sci. U.S.A. 97:5919-5923(2000) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, CALMODULIN-BINDING DOMAIN, MUTAGENESIS OF 3196-PHE-ARG-3197; VAL-3203 AND 3208-ARG-LEU-3209. |
| [9] | "DISC1-kendrin interaction is involved in centrosomal microtubule network formation." Shimizu S., Matsuzaki S., Hattori T., Kumamoto N., Miyoshi K., Katayama T., Tohyama M. Biochem. Biophys. Res. Commun. 377:1051-1056(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH DISC1, SUBCELLULAR LOCATION. |
| [10] | "Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling." Griffith E., Walker S., Martin C.-A., Vagnarelli P., Stiff T., Vernay B., Al Sanna N., Saggar A., Hamel B., Earnshaw W.C., Jeggo P.A., Jackson A.P., O'Driscoll M. Nat. Genet. 40:232-236(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MOPD2. |
| [11] | "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism." Rauch A., Thiel C.T., Schindler D., Wick U., Crow Y.J., Ekici A.B., van Essen A.J., Goecke T.O., Al-Gazali L., Chrzanowska K.H., Zweier C., Brunner H.G., Becker K., Curry C.J., Dallapiccola B., Devriendt K., Doerfler A., Kinning E. Reis A.Science 319:816-819(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN MOPD2. |
| [12] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2177 AND SER-2327, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [13] | "Involvement of a centrosomal protein kendrin in the maintenance of centrosome cohesion by modulating Nek2A kinase activity." Matsuo K., Nishimura T., Hayakawa A., Ono Y., Takahashi M. Biochem. Biophys. Res. Commun. 398:217-223(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH NEK2. |
| [14] | "Conserved motif of CDK5RAP2 mediates its localization to centrosomes and the Golgi complex." Wang Z., Wu T., Shi L., Zhang L., Zheng W., Qu J.Y., Niu R., Qi R.Z. J. Biol. Chem. 285:22658-22665(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CDK5RAP2. |
| [15] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-191; SER-682; SER-2044; SER-2477; SER-2486 AND SER-3302, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [16] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U52962 mRNA. Translation: AAD10838.1. Frameshift. AF515282 mRNA. Translation: AAP46636.1. AB007862 mRNA. Translation: BAA23698.3. Different initiation. AP000471 Genomic DNA. No translation available. AP001477 Genomic DNA. No translation available. AP000335 Genomic DNA. No translation available. AP000336 Genomic DNA. No translation available. AP000337 Genomic DNA. No translation available. AK093923 mRNA. Translation: BAC04252.1. Different initiation. |
| IPI | IPI00479143. IPI00973279. |
| RefSeq | NP_006022.3. NM_006031.5. |
| UniGene | Hs.474069. |
3D structure databases | |
| ProteinModelPortal | O95613. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O95613. 3 interactions. |
| STRING | 9606.ENSP00000352572. |
PTM databases | |
| PhosphoSite | O95613. |
Proteomic databases | |
| PaxDb | O95613. |
| PRIDE | O95613. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000359568; ENSP00000352572; ENSG00000160299. |
| GeneID | 5116. |
| KEGG | hsa:5116. |
| UCSC | uc002zji.4. human. uc002zjj.3. human. |
Organism-specific databases | |
| CTD | 5116. |
| GeneCards | GC21P047744. |
| H-InvDB | HIX0203117. |
| HGNC | HGNC:16068. PCNT. |
| HPA | HPA016820. HPA019887. |
| MIM | 210720. phenotype. 605925. gene. |
| neXtProt | NX_O95613. |
| Orphanet | 2637. Microcephalic osteodysplastic primordial short stature type 2. 808. Seckel syndrome. |
| PharmGKB | PA33079. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG12793. |
| HOGENOM | HOG000168229. |
| HOVERGEN | HBG079443. |
| InParanoid | O95613. |
| KO | K16481. |
| OMA | EQRGMFT. |
| OrthoDB | EOG4PNXG1. |
Enzyme and pathway databases | |
| Reactome | REACT_115566. Cell Cycle. |
Gene expression databases | |
| ArrayExpress | O95613. |
| Bgee | O95613. |
| CleanEx | HS_PCNT. |
| Genevestigator | O95613. |
| GermOnline | ENSG00000160299. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019528. PACT_domain. IPR024151. Pericentrin. [Graphical view] |
| PANTHER | PTHR18932:SF3. PTHR18932:SF3. 1 hit. |
| Pfam | PF10495. PACT_coil_coil. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PCNT. human. |
| GenomeRNAi | 5116. |
| NextBio | 19730. |
| SOURCE | Search... |
Entry information
| Entry name | PCNT_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O95613 Secondary accession number(s): O43152, Q7Z7C9 | ||||||||
| Entry history |
| ||||||||
| 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 21 Human chromosome 21: 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 |

Clusters with
