Reviewed,
UniProtKB/Swiss-Prot O95613 (PCNT_HUMAN)
Last modified
July 7, 2009.
Version 86.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Pericentrin Alternative name(s): Pericentrin-B Kendrin | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete 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. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | An integral component of the pericentriolar material (PCM). Ref.1 Ref.8 |
| Subunit structure | Interacts with PCM1. Binds calmodulin. Ref.1 |
| Subcellular location | Centrosome. Note: Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Ref.1 Ref.8 |
| Tissue specificity | Expressed in all tissues tested, including placenta, liver, kidney and thymus. Ref.8 |
| Involvement in disease | Defects in PCNT are the cause of microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) [MIM:210720]; also known as osteodysplastic primordial dwarfism type 2. 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. Ref.10 Ref.11 |
| Sequence caution | The sequence AAD10838.1 differs from that shown. Reason: Frameshift at position 3320. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Polymorphism |
| Disease | Dwarfism |
| Domain | Coiled coil |
| Ligand | Calmodulin-binding |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | cilium assembly Inferred from direct assay. Source: MGI |
| Cellular component | centrosome Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | calmodulin binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 3336 | 3336 | Pericentrin | PRO_0000058257 | |||||
Regions | |||||||||
| 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 | 366 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1703 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 1712 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 539 | 1 | T → I: dbSNP rs2249060. | VAR_043878 | |||||
| Natural variant | 704 | 1 | E → G: dbSNP rs2839223. Ref.3 | VAR_043879 | |||||
| Natural variant | 879 | 1 | T → A: dbSNP rs2839227. Ref.1 | VAR_043880 | |||||
| Natural variant | 1038 | 1 | A → V: dbSNP rs6518289. Ref.3 Ref.2 | VAR_043881 | |||||
| Natural variant | 1163 | 1 | R → C: dbSNP rs7279204. | VAR_043882 | |||||
| Natural variant | 1194 | 1 | A → T: dbSNP rs35044802. | VAR_043883 | |||||
| Natural variant | 1639 | 1 | I → V: dbSNP rs6518291. | VAR_043884 | |||||
| Natural variant | 1841 | 1 | N → S: dbSNP rs35940413. | VAR_043885 | |||||
| Natural variant | 1953 | 1 | R → H: dbSNP rs34268261. | VAR_043886 | |||||
| Natural variant | 1960 | 1 | R → Q: dbSNP rs34813667. | VAR_043887 | |||||
| Natural variant | 2097 | 1 | L → P: dbSNP rs2839245. | VAR_043888 | |||||
| Natural variant | 2125 | 1 | H → P: dbSNP rs35978208. | VAR_043889 | |||||
| Natural variant | 2188 | 1 | M → R: dbSNP rs1044998. Ref.1 | VAR_043890 | |||||
| Natural variant | 2191 | 1 | S → P: dbSNP rs34151633. | VAR_043891 | |||||
| Natural variant | 2239 | 1 | W → R: dbSNP rs35346764. | VAR_056961 | |||||
| Natural variant | 2274 | 1 | P → L: dbSNP rs2070425. | VAR_056962 | |||||
| Natural variant | 2329 | 1 | P → R: dbSNP rs35848602. | VAR_056963 | |||||
| Natural variant | 2361 | 1 | Q → R: dbSNP rs7277175. | VAR_056964 | |||||
| Natural variant | 2549 | 1 | A → T: dbSNP rs2839256. | VAR_056965 | |||||
| Natural variant | 2625 | 1 | R → Q: dbSNP rs8131693. | VAR_056966 | |||||
| Natural variant | 2659 | 1 | Q → H: dbSNP rs2070426. | VAR_056967 | |||||
| Natural variant | 2753 | 1 | R → H: dbSNP rs743346. | VAR_056968 | |||||
| Natural variant | 2792 | 1 | Q → R: dbSNP rs2073376. | VAR_056969 | |||||
| Natural variant | 2903 | 1 | A → T: dbSNP rs35147998. | VAR_056970 | |||||
| Natural variant | 2975 | 1 | L → P: dbSNP rs35881595. | VAR_056971 | |||||
| Natural variant | 3091 | 1 | S → G: dbSNP rs4818842. | VAR_056972 | |||||
| Natural variant | 3245 | 1 | R → S: dbSNP rs2073380. | 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: 11171385] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, VARIANTS ALA-879; 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], VARIANT VAL-1038. |
| [3] | "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: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLY-704 AND VAL-1038. |
| [4] | "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: 9455477] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-3336. Tissue: Brain. |
| [5] | "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: 12168954] [Abstract] Cited for: SEQUENCE REVISION TO 3023. |
| [6] | Ohara O. Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION. |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 787-1533. 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: 10823944] [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] | "Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1703, MASS SPECTROMETRY. Tissue: Epithelium. |
| [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: 18157127] [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: 18174396] [Abstract] Cited for: INVOLVEMENT IN MOPD2. |
| [12] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U52962 mRNA. Translation: AAD10838.1. Frameshift. AF515282 mRNA. Translation: AAP46636.1. 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. AB007862 mRNA. Translation: BAA23698.3. Sequence problems. AK093923 mRNA. Translation: BAC04252.1. Different initiation. | |
| IPI | IPI00479143. |
| RefSeq | NP_006022.3. |
| UniGene | Hs.474069 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O95613. 2 interactions. |
PTM databases | |
| PhosphoSite | O95613. |
Proteomic databases | |
| PRIDE | O95613. |
Genome annotation databases | |
| Ensembl | ENSG00000160299. Homo sapiens. [Contig view] |
| GeneID | 5116. |
| KEGG | hsa:5116. |
| UCSC | uc002zji.2. human. |
Organism-specific databases | |
| GeneCards | GC21P046569. |
| H-InvDB | HIX0016192. |
| HGNC | HGNC:16068. PCNT. |
| MIM | 210720. phenotype. 605925. gene. |
| Orphanet | 2637. Microcephalic osteodysplastic primordial short stature, type 2. 808. Seckel syndrome. |
| PharmGKB | PA33079. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O95613. |
| HOVERGEN | O95613. |
Enzyme and pathway databases | |
| Reactome | REACT_152. Cell Cycle, Mitotic. |
Gene expression databases | |
| ArrayExpress | O95613. |
| Bgee | O95613. |
| CleanEx | HS_PCNT. |
| GermOnline | ENSG00000160299. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019528. PACT_domain. [Graphical view] |
| Pfam | PF10495. PACT_coil_coil. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| 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 project | HPI (Human Proteome Initiative) | ||||||||
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


