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MGP005504

UniProt Annotations

Entry Information
Gene Namecentromere protein J
Protein EntryCENPJ_HUMAN
UniProt IDQ9HC77
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HC77-1; Sequence=Displayed; Name=2; IsoId=Q9HC77-2; Sequence=VSP_056831, VSP_056832; Note=No experimental confirmation available.;
DiseaseMicrocephaly 6, primary, autosomal recessive (MCPH6) [MIM:608393]: A disease 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. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269|PubMed:15793586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSeckel syndrome 4 (SCKL4) [MIM:613676]: 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. {ECO:0000269|PubMed:20522431}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. {ECO:0000269|PubMed:15047868, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:20531387}.
InteractionQ66GS9:CEP135; NbExp=8; IntAct=EBI-946194, EBI-1046993; Q96RK0:CIC; NbExp=2; IntAct=EBI-946194, EBI-945857; Q5VTD9:GFI1B; NbExp=2; IntAct=EBI-946194, EBI-946212; Q9NYY3:PLK2; NbExp=3; IntAct=EBI-946194, EBI-721354; Q15468:STIL; NbExp=12; IntAct=EBI-946194, EBI-7488405; O95271:TNKS; NbExp=4; IntAct=EBI-946194, EBI-1105254;
PtmPhosphorylation 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. {ECO:0000269|PubMed:20531387, ECO:0000269|PubMed:21406692}.
Sequence CautionSequence=AAH24209.3; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the TCP10 family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, 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.
SubunitPart 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). {ECO:0000269|PubMed:11003675, ECO:0000269|PubMed:11984006, ECO:0000269|PubMed:19052644, ECO:0000269|PubMed:20852615}.
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