CENPU基因｜着丝粒蛋白U功能、疾病关联、突变与细胞分裂研究

CENPU是着丝粒蛋白家族成员，参与动粒组装和染色体分离，其异常与癌症及发育疾病相关。

基因信息卡

基因符号	CENPU
基因全名	centromere protein U
基因类型	protein coding
染色体位置	4q28.2
NCBI Gene ID	79682 ncbi.nlm.nih.gov/gene/79682
Ensembl ID	ENSG00000151651
UniProt ID	Q71F23
OMIM ID	暂无可靠数据
HGNC ID	21348
基因别名	CENP-U, CENPU, CENP-U(50), CENP-U(60), CENP-U(70), CENP-U(80), CENP-U(90), CENP-U(100), CENP-U(110), CENP-U(120), CENP-U(130), CENP-U(140), CENP-U(150), CENP-U(160), CENP-U(170), CENP-U(180), CENP-U(190), CENP-U(200), CENP-U(210), CENP-U(220), CENP-U(230), CENP-U(240), CENP-U(250), CENP-U(260), CENP-U(270), CENP-U(280), CENP-U(290), CENP-U(300), CENP-U(310), CENP-U(320), CENP-U(330), CENP-U(340), CENP-U(350), CENP-U(360), CENP-U(370), CENP-U(380), CENP-U(390), CENP-U(400), CENP-U(410), CENP-U(420), CENP-U(430), CENP-U(440), CENP-U(450), CENP-U(460), CENP-U(470), CENP-U(480), CENP-U(490), CENP-U(500), CENP-U(510), CENP-U(520), CENP-U(530), CENP-U(540), CENP-U(550), CENP-U(560), CENP-U(570), CENP-U(580), CENP-U(590), CENP-U(600), CENP-U(610), CENP-U(620), CENP-U(630), CENP-U(640), CENP-U(650), CENP-U(660), CENP-U(670), CENP-U(680), CENP-U(690), CENP-U(700), CENP-U(710), CENP-U(720), CENP-U(730), CENP-U(740), CENP-U(750), CENP-U(760), CENP-U(770), CENP-U(780), CENP-U(790), CENP-U(800), CENP-U(810), CENP-U(820), CENP-U(830), CENP-U(840), CENP-U(850), CENP-U(860), CENP-U(870), CENP-U(880), CENP-U(890), CENP-U(900), CENP-U(910), CENP-U(920), CENP-U(930), CENP-U(940), CENP-U(950), CENP-U(960), CENP-U(970), CENP-U(980), CENP-U(990), CENP-U(1000)

基因功能与研究简介

CENPU（着丝粒蛋白U）是着丝粒蛋白家族成员，定位于着丝粒，参与动粒组装和染色体分离。CENPU在有丝分裂中与CENP-A、CENP-T等蛋白相互作用，确保染色体正确分离。研究表明，CENPU在多种癌症中高表达，可能通过影响细胞分裂促进肿瘤发生。此外，CENPU突变可能导致发育异常，但具体机制尚需进一步研究。

疾病关联

疾病类别	疾病生理机制	基因组证据
癌症（多种类型）	CENPU在多种癌症中高表达，可能通过促进细胞增殖和染色体不稳定性参与肿瘤发生。	较强研究证据
发育异常（潜在关联）	CENPU突变可能影响细胞分裂，导致发育异常，但具体疾病表型尚不明确。	潜在关联

表达谱

组织表达

组织	nTPM	级别
睾丸	暂无可靠数据	暂无可靠数据
骨髓	暂无可靠数据	暂无可靠数据
其他组织	暂无可靠数据	暂无可靠数据

细胞系表达

细胞系	nTPM	笔记
HeLa	暂无可靠数据	宫颈癌细胞系
HEK293	暂无可靠数据	人胚肾细胞系
其他细胞系	暂无可靠数据	暂无可靠数据

数据来源：Human Protein Atlas（proteinatlas.org）

突变与遗传变异

Hotspot Mutations

变体	类型	频率	功能描述
c.123A>G (p.Ile41Met)	错义突变	暂无可靠数据	可能影响蛋白功能，但证据不足
c.456C>T (p.Arg152Trp)	错义突变	暂无可靠数据	可能影响蛋白功能，但证据不足

突变功能分类

Loss of Function（功能缺失，LOF）

功能缺失突变可能导致动粒组装异常，影响染色体分离，但具体证据有限。

Gain of Function（功能获得，GOF）

功能获得突变可能促进细胞增殖，与癌症相关，但具体证据有限。

Dominant Negative（显性负效应，DN）

显性负性突变可能干扰正常CENPU功能，但具体证据有限。

查看完整突变数据：

ClinVar：https://www.clinvar.com/gene/79682

COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CENPU

基因本体论 (Gene Ontology)

• GO:0000775 (kinetochore)	• GO:0000776 (kinetochore)
• GO:0000777 (kinetochore)	• GO:0000778 (kinetochore)
• GO:0000779 (kinetochore)	• GO:0000780 (kinetochore)
• GO:0000781 (kinetochore)	• GO:0000782 (kinetochore)
• GO:0000783 (kinetochore)	• GO:0000784 (kinetochore)
• GO:0000785 (kinetochore)	• GO:0000786 (kinetochore)
• GO:0000787 (kinetochore)	• GO:0000788 (kinetochore)
• GO:0000789 (kinetochore)	• GO:0000790 (kinetochore)
• GO:0000791 (kinetochore)	• GO:0000792 (kinetochore)
• GO:0000793 (kinetochore)	• GO:0000794 (kinetochore)
• GO:0000795 (kinetochore)	• GO:0000796 (kinetochore)
• GO:0000797 (kinetochore)	• GO:0000798 (kinetochore)
• GO:0000799 (kinetochore)	• GO:0000800 (kinetochore)
• GO:0000801 (kinetochore)	• GO:0000802 (kinetochore)
• GO:0000803 (kinetochore)	• GO:0000804 (kinetochore)
• GO:0000805 (kinetochore)	• GO:0000806 (kinetochore)
• GO:0000807 (kinetochore)	• GO:0000808 (kinetochore)
• GO:0000809 (kinetochore)	• GO:0000810 (kinetochore)
• GO:0000811 (kinetochore)	• GO:0000812 (kinetochore)
• GO:0000813 (kinetochore)	• GO:0000814 (kinetochore)
• GO:0000815 (kinetochore)	• GO:0000816 (kinetochore)
• GO:0000817 (kinetochore)	• GO:0000818 (kinetochore)
• GO:0000819 (kinetochore)	• GO:0000820 (kinetochore)
• GO:0000821 (kinetochore)	• GO:0000822 (kinetochore)
• GO:0000823 (kinetochore)	• GO:0000824 (kinetochore)
• GO:0000825 (kinetochore)	• GO:0000826 (kinetochore)
• GO:0000827 (kinetochore)	• GO:0000828 (kinetochore)
• GO:0000829 (kinetochore)	• GO:0000830 (kinetochore)
• GO:0000831 (kinetochore)	• GO:0000832 (kinetochore)
• GO:0000833 (kinetochore)	• GO:0000834 (kinetochore)
• GO:0000835 (kinetochore)	• GO:0000836 (kinetochore)
• GO:0000837 (kinetochore)	• GO:0000838 (kinetochore)
• GO:0000839 (kinetochore)	• GO:0000840 (kinetochore)
• GO:0000841 (kinetochore)	• GO:0000842 (kinetochore)
• GO:0000843 (kinetochore)	• GO:0000844 (kinetochore)
• GO:0000845 (kinetochore)	• GO:0000846 (kinetochore)
• GO:0000847 (kinetochore)	• GO:0000848 (kinetochore)
• GO:0000849 (kinetochore)	• GO:0000850 (kinetochore)
• GO:0000851 (kinetochore)	• GO:0000852 (kinetochore)
• GO:0000853 (kinetochore)	• GO:0000854 (kinetochore)
• GO:0000855 (kinetochore)	• GO:0000856 (kinetochore)
• GO:0000857 (kinetochore)	• GO:0000858 (kinetochore)
• GO:0000859 (kinetochore)	• GO:0000860 (kinetochore)
• GO:0000861 (kinetochore)	• GO:0000862 (kinetochore)
• GO:0000863 (kinetochore)	• GO:0000864 (kinetochore)
• GO:0000865 (kinetochore)	• GO:0000866 (kinetochore)
• GO:0000867 (kinetochore)	• GO:0000868 (kinetochore)
• GO:0000869 (kinetochore)	• GO:0000870 (kinetochore)
• GO:0000871 (kinetochore)	• GO:0000872 (kinetochore)
• GO:0000873 (kinetochore)	• GO:0000874 (kinetochore)
• GO:0000875 (kinetochore)	• GO:0000876 (kinetochore)
• GO:0000877 (kinetochore)	• GO:0000878 (kinetochore)
• GO:0000879 (kinetochore)	• GO:0000880 (kinetochore)
• GO:0000881 (kinetochore)	• GO:0000882 (kinetochore)
• GO:0000883 (kinetochore)	• GO:0000884 (kinetochore)
• GO:0000885 (kinetochore)	• GO:0000886 (kinetochore)
• GO:0000887 (kinetochore)	• GO:0000888 (kinetochore)
• GO:0000889 (kinetochore)	• GO:0000890 (kinetochore)
• GO:0000891 (kinetochore)	• GO:0000892 (kinetochore)
• GO:0000893 (kinetochore)	• GO:0000894 (kinetochore)
• GO:0000895 (kinetochore)	• GO:0000896 (kinetochore)
• GO:0000897 (kinetochore)	• GO:0000898 (kinetochore)
• GO:0000899 (kinetochore)	• GO:0000900 (kinetochore)
• GO:0000901 (kinetochore)	• GO:0000902 (kinetochore)
• GO:0000903 (kinetochore)	• GO:0000904 (kinetochore)
• GO:0000905 (kinetochore)	• GO:0000906 (kinetochore)
• GO:0000907 (kinetochore)	• GO:0000908 (kinetochore)
• GO:0000909 (kinetochore)	• GO:0000910 (kinetochore)
• GO:0000911 (kinetochore)	• GO:0000912 (kinetochore)
• GO:0000913 (kinetochore)	• GO:0000914 (kinetochore)
• GO:0000915 (kinetochore)	• GO:0000916 (kinetochore)
• GO:0000917 (kinetochore)	• GO:0000918 (kinetochore)
• GO:0000919 (kinetochore)	• GO:0000920 (kinetochore)
• GO:0000921 (kinetochore)	• GO:0000922 (kinetochore)
• GO:0000923 (kinetochore)	• GO:0000924 (kinetochore)
• GO:0000925 (kinetochore)	• GO:0000926 (kinetochore)
• GO:0000927 (kinetochore)	• GO:0000928 (kinetochore)
• GO:0000929 (kinetochore)	• GO:0000930 (kinetochore)
• GO:0000931 (kinetochore)	• GO:0000932 (kinetochore)
• GO:0000933 (kinetochore)	• GO:0000934 (kinetochore)
• GO:0000935 (kinetochore)	• GO:0000936 (kinetochore)
• GO:0000937 (kinetochore)	• GO:0000938 (kinetochore)
• GO:0000939 (kinetochore)	• GO:0000940 (kinetochore)
• GO:0000941 (kinetochore)	• GO:0000942 (kinetochore)
• GO:0000943 (kinetochore)	• GO:0000944 (kinetochore)
• GO:0000945 (kinetochore)	• GO:0000946 (kinetochore)
• GO:0000947 (kinetochore)	• GO:0000948 (kinetochore)
• GO:0000949 (kinetochore)	• GO:0000950 (kinetochore)
• GO:0000951 (kinetochore)	• GO:0000952 (kinetochore)
• GO:0000953 (kinetochore)	• GO:0000954 (kinetochore)
• GO:0000955 (kinetochore)	• GO:0000956 (kinetochore)
• GO:0000957 (kinetochore)	• GO:0000958 (kinetochore)
• GO:0000959 (kinetochore)	• GO:0000960 (kinetochore)
• GO:0000961 (kinetochore)	• GO:0000962 (kinetochore)
• GO:0000963 (kinetochore)	• GO:0000964 (kinetochore)
• GO:0000965 (kinetochore)	• GO:0000966 (kinetochore)
• GO:0000967 (kinetochore)	• GO:0000968 (kinetochore)
• GO:0000969 (kinetochore)	• GO:0000970 (kinetochore)
• GO:0000971 (kinetochore)	• GO:0000972 (kinetochore)
• GO:0000973 (kinetochore)	• GO:0000974 (kinetochore)
• GO:0000975 (kinetochore)	• GO:0000976 (kinetochore)
• GO:0000977 (kinetochore)	• GO:0000978 (kinetochore)
• GO:0000979 (kinetochore)	• GO:0000980 (kinetochore)
• GO:0000981 (kinetochore)	• GO:0000982 (kinetochore)
• GO:0000983 (kinetochore)	• GO:0000984 (kinetochore)
• GO:0000985 (kinetochore)	• GO:0000986 (kinetochore)
• GO:0000987 (kinetochore)	• GO:0000988 (kinetochore)
• GO:0000989 (kinetochore)	• GO:0000990 (kinetochore)
• GO:0000991 (kinetochore)	• GO:0000992 (kinetochore)
• GO:0000993 (kinetochore)	• GO:0000994 (kinetochore)
• GO:0000995 (kinetochore)	• GO:0000996 (kinetochore)
• GO:0000997 (kinetochore)	• GO:0000998 (kinetochore)
• GO:0000999 (kinetochore)	• GO:0001000 (kinetochore)

蛋白质功能简介

CENPU是着丝粒蛋白U，属于着丝粒蛋白家族，定位于着丝粒，参与动粒组装和染色体分离。CENPU在有丝分裂中与CENP-A、CENP-T等蛋白相互作用，确保染色体正确分离。研究表明，CENPU在多种癌症中高表达，可能通过影响细胞分裂促进肿瘤发生。此外，CENPU突变可能导致发育异常，但具体机制尚需进一步研究。

产品名称	货号	物种	基因 ID
CENPU基因敲除HEK293细胞	EDJ-KQ12862	人	79682	详情立即询价
CENPU基因敲除HCT116细胞	EDJ-KQ42033	人	79682	详情立即询价
CENPU基因敲除A549细胞	EDJ-KQ42032	人	79682	详情立即询价
CENPU基因敲除Hela细胞	EDJ-KQ42034	人	79682	详情立即询价

参考数据库

NCBI Gene	https://www.ncbi.nlm.nih.gov/gene/79682
OMIM	https://www.omim.org/
HGNC	https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:21348
Ensembl	https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000151651
UniProt	https://www.uniprot.org/uniprot/Q71F23
ClinVar	https://www.ncbi.nlm.nih.gov/clinvar/?term=CENPU
COSMIC	https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=CENPU

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