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FIGURE: 1 / 1
Sequence of this protein is as follows: MRKLQKERKV FEKYTTAART FPDKKEREEI QTLKQQIADL REDLKRKETK WSSTHSRLRS QIQMLVRENT DLREEIKVME RFRLDAWKRA EAIESSLEVE KKDKLANTSV RFQNSQISSG TQVEKYKKNY LPMQGNPPRR SKSAPPRDLG NLDKGQAASP REPLEPLNFP DPEYKEEEED QDIQGEISHP DGKVEKVYKN GCRVILFPNG TRKEVSADGK TITVTFFNGD VKQVMPDQRV IYYYAAAQTT HTTYPEGLEV LHFSSGQIEK HYPDGRKEIT FPDQTVKNLF PDGQEESIFP DGTIVRVQRD GNKLIEFNNG QRELHTAQFK RREYPDGTVK TVYANGHQET KYRSGRIRVK DKEGNVLMDT EL
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.
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Protein Aliases: CENP-J; Centromere protein J; Centrosomal P4.1-associated protein; Centrosome assembly and centriole elongation protein; LAG-3-associated protein; LYST-interacting protein 1; LYST-interacting protein LIP1; LYST-interacting protein LIP7; microcephaly
Gene Aliases: BM032; CENP-J; CENPJ; CPAP; LAP; LIP1; MCPH6; Sas-4; SASS4; SCKL4
UniProt ID: (Human) Q9C067
Entrez Gene ID: (Human) 55835
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