• Gene id: 79682

Gene Summary

• Gene Symbol: CENPU   Gene   UCSC   Ensembl
• Aliases: CENP50, CENPU50, KLIP1, MLF1IP, PBIP1
• Gene name: centromere protein U
• Alternate names: centromere protein U, KSHV latent nuclear antigen interacting protein 1, MLF1 interacting protein, centromere protein of 50 kDa, interphase centromere complex protein 24, polo-box-interacting protein 1,
• Gene location: 4q35.1 (184734095: 184694084)     Exons: 14     NC_000004.12
• Gene summary(Entrez): The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays
• OMIM: 611511

Protein Summary

• Protein general information: Q71F23  
  • Name: Centromere protein U (CENP U) (Centromere protein of 50 kDa) (CENP 50) (Interphase centromere complex protein 24) (KSHV latent nuclear antigen interacting protein 1) (MLF1 interacting protein) (Polo box interacting protein 1)
  • Length: 418  
  • Mass: 47522
  • Tissue specificity: Expressed at high levels in the testis, fetal liver, thymus, bone marrow and at lower levels in the lymph nodes, placenta, colon and spleen. Present in all cell lines examined, including B-cells, T-cells, epithelial cells and fibroblas
• Sequence:

  MAPRGRRRPRPHRSEGARRSKNTLERTHSMKDKAGQKCKPIDVFDFPDNSDVSSIGRLGENEKDEETYETFDPPL
  HSTAIYADEEEFSKHCGLSLSSTPPGKEAKRSSDTSGNEASEIESVKISAKKPGRKLRPISDDSESIEESDTRRK
  VKSAEKISTQRHEVIRTTASSELSEKPAESVTSKKTGPLSAQPSVEKENLAIESQSKTQKKGKISHDKRKKSRSK
  AIGSDTSDIVHIWCPEGMKTSDIKELNIVLPEFEKTHLEHQQRIESKVCKAAIATFYVNVKEQFIKMLKESQMLT
  NLKRKNAKMISDIEKKRQRMIEVQDELLRLEPQLKQLQTKYDELKERKSSLRNAAYFLSNLKQLYQDYSDVQAQE
  PNVKETYDSSSLPALLFKARTLLGAESHLRNINHQLEKLLDQG

• Structural information:
  • Interpro: IPR025214  
  • DIP: 48539
  • STRING: ENSP00000281453
• Other Databases: GeneCards:  CENPU  Malacards:  CENPU

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0000776	kinetochore	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0034080	CENP-A containing nucleosome assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043009	chordate embryonic development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray