ID:CENPJ_HUMAN DESCRIPTION: RecName: Full=Centromere protein J; Short=CENP-J; AltName: Full=Centrosomal P4.1-associated protein; AltName: Full=LAG-3-associated protein; AltName: Full=LYST-interacting protein 1; FUNCTION: Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. SUBUNIT: 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. Interacts with CEP152 (via C-terminus). INTERACTION: Q96RK0:CIC; NbExp=2; IntAct=EBI-946194, EBI-945857; Q5VTD9:GFI1B; NbExp=2; IntAct=EBI-946194, EBI-946212; 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. PTM: Phosphorylation at Ser-589 and Ser-595 by PLK2 is required for procentriole formation and centriole elongation. Phosphorylation by PLK2 oscillates during the cell cycle: it increases at G1/S transition and decreases during the exit from mitosis. Phosphorylation at Ser-595 is also mediated by PLK4 but is not a critical step in PLK4 function in procentriole assembly. 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. DISEASE: Defects in CENPJ are the cause of Seckel syndrome type 4 (SCKL4) [MIM:613676]. SCKL4 is a rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation. SIMILARITY: Belongs to the TCP10 family. SEQUENCE CAUTION: Sequence=AAH24209.3; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9HC77
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AJ303006 - Homo sapiens partial mRNA for LAG-3-associated protein (LAP gene). AX751424 - Sequence 8 from Patent WO03035682. JD304296 - Sequence 285320 from Patent EP1572962. AF139625 - Homo sapiens centrosomal P4.1-associated protein (CPAP) mRNA, complete cds. AK292406 - Homo sapiens cDNA FLJ78752 complete cds, highly similar to Homo sapiens centromere protein J (CENPJ), mRNA. AK123551 - Homo sapiens cDNA FLJ41557 fis, clone COLON2008105, highly similar to Centromere protein J. AF141337 - Homo sapiens LYST-interacting protein LIP1 mRNA, partial cds. BC024209 - Homo sapiens centromere protein J, mRNA (cDNA clone IMAGE:3028074), complete cds. AL833182 - Homo sapiens mRNA; cDNA DKFZp667E025 (from clone DKFZp667E025). BC113662 - Homo sapiens centromere protein J, mRNA (cDNA clone MGC:142222 IMAGE:8322714), complete cds. BC113664 - Homo sapiens centromere protein J, mRNA (cDNA clone MGC:142224 IMAGE:8322716), complete cds. BC143757 - Homo sapiens cDNA clone IMAGE:9052271. BC143758 - Homo sapiens cDNA clone IMAGE:9052272. BC113110 - Homo sapiens centromere protein J, mRNA (cDNA clone MGC:131581 IMAGE:7961385), complete cds. BC113111 - Homo sapiens centromere protein J, mRNA (cDNA clone MGC:131582 IMAGE:7961390), complete cds. HQ258541 - Synthetic construct Homo sapiens clone IMAGE:100072970 centromere protein J (CENPJ) gene, encodes complete protein. BC062675 - Homo sapiens cDNA clone IMAGE:4614966, partial cds. AF141343 - Homo sapiens LYST-interacting protein LIP7 mRNA, partial cds. AF217509 - Homo sapiens uncharacterized bone marrow protein BM032 mRNA, complete cds. BC092467 - Homo sapiens centromere protein J, mRNA (cDNA clone IMAGE:30520459), partial cds. JD421268 - Sequence 402292 from Patent EP1572962. JD199349 - Sequence 180373 from Patent EP1572962. JD368880 - Sequence 349904 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9HC77 (Reactome details) participates in the following event(s):
R-HSA-6801666 PLK2 phosphorylates CENPJ R-HSA-380272 Plk1-mediated phosphorylation of Nlp R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome R-HSA-380294 Loss of C-Nap-1 from centrosomes R-HSA-380311 Recruitment of Plk1 to centrosomes R-HSA-380455 Recruitment of CDK11p58 to the centrosomes R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome R-HSA-5626220 C2CD3 binds the mother centriole R-HSA-380508 Translocation of NuMA to the centrosomes R-HSA-2574845 AJUBA binds centrosome-associated AURKA R-HSA-8853405 TPX2 binds AURKA at centrosomes R-HSA-3000319 BORA binds PLK1 and AURKA R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation R-HSA-3000310 AURKA phosphorylates PLK1 R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5626227 CP110 and CEP97 dissociate from the centriole R-HSA-380316 Association of NuMA with microtubules R-HSA-8853419 TPX2 promotes AURKA autophosphorylation R-HSA-5626228 The distal appendage proteins recruit TTBK2 R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5626699 MARK4 binds ODF2 in the centriole R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-6804115 TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain R-HSA-380259 Loss of Nlp from mitotic centrosomes R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle Genes R-HSA-380320 Recruitment of NuMA to mitotic centrosomes R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition R-HSA-8854518 AURKA Activation by TPX2 R-HSA-380287 Centrosome maturation R-HSA-5617833 Cilium Assembly R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-68877 Mitotic Prometaphase R-HSA-69275 G2/M Transition R-HSA-1852241 Organelle biogenesis and maintenance R-HSA-212436 Generic Transcription Pathway R-HSA-68886 M Phase R-HSA-453274 Mitotic G2-G2/M phases R-HSA-73857 RNA Polymerase II Transcription R-HSA-69278 Cell Cycle (Mitotic) R-HSA-74160 Gene expression (Transcription) R-HSA-1640170 Cell Cycle
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
