Reviewed,
UniProtKB/Swiss-Prot Q9HC77 (CENPJ_HUMAN)
Last modified
March 2, 2010.
Version 63.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Centromere protein J Short name=CENP-J Alternative name(s): Centrosomal P4.1-associated protein LAG-3-associated protein LYST-interacting protein 1 | ||||
| Gene names |
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| 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 | 1338 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Ref.6 Ref.7 |
| Subunit structure | Part of a ternary complex composed of SASS6, CENPJ and CEP350. Associated with the gamma-tubulin complex. Interacts with the head domain of EPB41. Interacts with LYST. Ref.1 Ref.5 |
| Subcellular location | Cytoplasm › cytoskeleton › centrosome. Cytoplasm › cytoskeleton › centrosome › centriole. Note: Localized within the center of microtubule asters. During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles. Ref.7 Ref.1 |
| Involvement in disease | Defects in CENPJ are the cause of microcephaly primary type 6 (MCPH6) [MIM:608393]. A disorder defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. |
| Sequence similarities | Belongs to the TCP10 family. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CIC | Q96RK0 | 1 | EBI-946194,EBI-945857 | |
| GFI1B | Q5VTD9 | 1 | EBI-946194,EBI-946212 |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1338 | 1338 | Centromere protein J | PRO_0000089480 | |||||
Amino acid modifications | |||||||||
| Modified residue | 785 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 892 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 1109 | 1 | Phosphoserine Ref.8 | ||||||
Natural variations | |||||||||
| Natural variant | 21 | 1 | M → V: dbSNP rs35498994. | VAR_032427 | |||||
| Natural variant | 55 | 1 | P → A: dbSNP rs17081389. | VAR_032428 | |||||
| Natural variant | 63 | 1 | D → H: dbSNP rs7336216. | VAR_032429 | |||||
| Natural variant | 85 | 1 | P → T: dbSNP rs9511510. | VAR_032430 | |||||
| Natural variant | 151 | 1 | E → G: dbSNP rs34177811. | VAR_032431 | |||||
| Natural variant | 879 | 1 | S → A: dbSNP rs17402892. | VAR_032432 | |||||
| Natural variant | 1235 | 1 | E → V in MCPH6. Ref.11 | VAR_032433 | |||||
Experimental info | |||||||||
| Sequence conflict | 129 | 1 | L → R in AAG21074. Ref.1 | ||||||
| Sequence conflict | 1142 | 1 | E → R in AAG49440. Ref.5 | ||||||
| Sequence conflict | 1224 | 1 | L → W in AAG49440. Ref.5 | ||||||
| Sequence conflict | 1333 | 1 | L → S in AAG21074. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the gamma-tubulin complex." Hung L.-Y., Tang C.J., Tang T.K. Mol. Cell. Biol. 20:7813-7825(2000) [PubMed: 11003675] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, INTERACTION WITH EPB41. |
| [2] | "The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. Ross M.T.Nature 428:522-528(2004) [PubMed: 15057823] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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]. Tissue: Muscle. |
| [4] | "LAP, a lymphocyte activation gene-3-associated protein that binds to a repeated EP motif in the intracellular region of LAG-3 may participate in the down-regulation of the CD3/TCR activation pathway." Andreae S., Triebel P.F. Submitted (NOV-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 967-1338. |
| [5] | "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins." Tchernev V.T., Mansfield T.A., Giot L., Kumar A.M., Nandabalan K., Li Y., Mishra V.S., Detter J.C., Rothberg J.M., Wallace M.R., Southwick F.S., Kingsmore S.F. Mol. Med. 8:56-64(2002) [PubMed: 11984006] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1142-1338, INTERACTION WITH LYST. |
| [6] | "Identification of a novel microtubule-destabilizing motif in CPAP that binds to tubulin heterodimers and inhibits microtubule assembly." Hung L.-Y., Chen H.-L., Chang C.-W., Li B.-R., Tang T.K. Mol. Biol. Cell 15:2697-2706(2004) [PubMed: 15047868] [Abstract] Cited for: FUNCTION IN MICROTUBULE DESTABILIZATION. |
| [7] | "Plk4-induced centriole biogenesis in human cells." Kleylein-Sohn J., Westendorf J., Le Clech M., Habedanck R., Stierhof Y.-D., Nigg E.A. Dev. Cell 13:190-202(2007) [PubMed: 17681131] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [8] | "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1109, MASS SPECTROMETRY. Tissue: Epithelium. |
| [9] | "Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-785 AND SER-892, MASS SPECTROMETRY. |
| [10] | "Role of CAP350 in centriolar tubule stability and centriole assembly." Le Clech M. PLoS ONE 3:E3855-E3855(2008) [PubMed: 19052644] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH SASS6 AND CEP350. |
| [11] | "A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size." Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., Hampshire D.J., Morrison E.E., Leal G.F., Silva E.O., Costa S.M.R., Baralle D., Raponi M., Karbani G., Rashid Y., Jafri H., Bennett C., Corry P., Walsh C.A., Woods C.G. Nat. Genet. 37:353-355(2005) [PubMed: 15793586] [Abstract] Cited for: VARIANT MCPH6 VAL-1235. |
| [12] | Erratum Bond J., Roberts E., Springell K., Lizarraga S.B., Scott S., Higgins J., Hampshire D.J., Morrison E.E., Leal G.F., Silva E.O., Costa S.M.R., Baralle D., Raponi M., Karbani G., Rashid Y., Jafri H., Bennett C., Corry P., Walsh C.A., Woods C.G. Nat. Genet. 37:555-555(2005) |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF139625 mRNA. Translation: AAG21074.1. AL354798 Genomic DNA. Translation: CAI16635.1. BC024209 mRNA. Translation: AAH24209.3. Different initiation. BC113110 mRNA. Translation: AAI13111.1. BC113662 mRNA. Translation: AAI13663.1. BC113664 mRNA. Translation: AAI13665.1. AJ303006 mRNA. Translation: CAC80028.1. AF141337 mRNA. Translation: AAG49440.1. |
| IPI | IPI00043201. |
| RefSeq | NP_060921.3. |
| UniGene | Hs.513379 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9HC77. 3 interactions. |
| STRING | Q9HC77. |
PTM databases | |
| PhosphoSite | Q9HC77. |
Proteomic databases | |
| PRIDE | Q9HC77. |
Genome annotation databases | |
| Ensembl | ENST00000381884; ENSP00000371308; ENSG00000151849; Homo sapiens. [Genome view] |
| GeneID | 55835. |
| KEGG | hsa:55835. |
| NMPDR | fig|9606.3.peg.8644. |
| UCSC | uc001upt.2. human. |
Organism-specific databases | |
| CTD | 55835. |
| GeneCards | GC13M024355. |
| H-InvDB | HIX0011180. |
| HGNC | HGNC:17272. CENPJ. |
| MIM | 608393. phenotype. 609279. gene. |
| Orphanet | 2512. Microcephaly, isolated congenital. |
| PharmGKB | PA26403. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | HBG278593. |
| HOVERGEN | HBG050894. |
| InParanoid | Q9HC77. |
| OMA | ERDQQIC. |
| OrthoDB | EOG93FKH8. |
Enzyme and pathway databases | |
| Reactome | REACT_152. Cell Cycle, Mitotic. |
Gene expression databases | |
| ArrayExpress | Q9HC77. |
| Bgee | Q9HC77. |
| CleanEx | HS_CENPJ. |
| Genevestigator | Q9HC77. |
| GermOnline | ENSG00000151849. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR009852. Tcp10/CenJ_C. [Graphical view] |
| Pfam | PF07202. Tcp10_C. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 61057. |
| SOURCE | Search... |
Entry information
| Entry name | CENPJ_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9HC77 Secondary accession number(s): Q2KHM6 Q9C067 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 13 Human chromosome 13: 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


