NP_060921.3
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
centromere protein J
NCBI Official Synonym Full Names
centromere protein J
NCBI Official Synonym Symbols
LAP; CPAP; LIP1; BM032; MCPH6; SASS4; SCKL4; Sas-4; CENP-J [Similar Products]
NCBI Protein Information
centromere protein J; LAG-3-associated protein; LYST-interacting protein 1; LYST-interacting protein LIP1; LYST-interacting protein LIP7; centrosomal P4.1-associated protein
UniProt Protein Name
Centromere protein J
UniProt Synonym Protein Names
Centrosomal P4.1-associated protein; LAG-3-associated protein; LYST-interacting protein 1
UniProt Synonym Gene Names
UniProt Entry Name
CENPJ_HUMAN
NCBI Summary for CENPJ
This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
UniProt Comments for CENPJ
CENPJ: Plays an important role in cell division and centrosome function by participating in centriole duplication. Inhibits microtubule nucleation from the centrosome. Defects in CENPJ are the cause of microcephaly primary type 6 (MCPH6). 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. Defects in CENPJ are the cause of Seckel syndrome type 4 (SCKL4). 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. Belongs to the TCP10 family.
Protein type: Cell cycle regulation; Transcription, coactivator/corepressor; Microtubule-binding
Chromosomal Location of Human Ortholog: 13q12.12
Cellular Component: centriole; centrosome; microtubule; cytosol; gamma-tubulin small complex
Molecular Function: tubulin binding; protein domain specific binding; protein binding; protein kinase binding
Biological Process: regulation of centriole replication; cell division; organelle organization and biogenesis; centriole replication; mitotic cell cycle; G2/M transition of mitotic cell cycle; microtubule nucleation; microtubule polymerization
Disease: Microcephaly 6, Primary, Autosomal Recessive; Seckel Syndrome 4
Research Articles on CENPJ
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Products associated with CENPJ elisa kit
Pathways associated with CENPJ elisa kit
Diseases associated with CENPJ elisa kit
Organs/Tissues associated with CENPJ elisa kit
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