• Gene id: 55857

Gene Summary

• Gene Symbol: KIZ   Gene   UCSC   Ensembl
• Aliases: C20orf19, HT013, Kizuna, NCRNA00153, PLK1S1, RP69
• Gene name: kizuna centrosomal protein
• Alternate names: centrosomal protein kizuna, polo-like kinase 1 substrate 1,
• Gene location: 20p11.23 (82901739: 82822935)     Exons: 11     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript
• OMIM: 615757

Protein Summary

• Protein general information: Q2M2Z5  
  • Name: Centrosomal protein kizuna (Polo like kinase 1 substrate 1)
  • Length: 673  
  • Mass: 75111
• Sequence:

  MSRTLASAVPLSSPDYYERLGQLQHGLRDSEKKRLDLEKKLYEYNQSDTCRVKLKYVKLKNYLKEICESEKKAHT
  RNQEYLKRFERVQAHVVHFTTNTEKLQKLKLEYETQIKKMLCSKDSLGLKEELTDEDREKVAVHEGINSGTAMSR
  GLYQPATIFMGRQMSAILSMRDFSTEHKSPQPTKNFSIPDPHSHRQTAQSSNVTDSCVVQTSNDTQCLNKSDNID
  GKASLQIGEKMPVTASVLSEEEQTHCLEIGSNTRHGKSNLSEGKKSAELNSPLRERLSPENRTTDLKCDSSSGSE
  GEILTREHIEVEEKRASPPVSPIPVSEYCESENKWSQEKHSPWEGVSDHLAHREPKSQKPFRKMQEEEEESWSTS
  SDLTISISEDDLILESPEPQPNPGGKMEGEDGIEALKLIHAEQERVALSTEKNCILQTLSSPDSEKESSTNAPTR
  EPGQTPDSDVPRAQVGQHVATLKEHDNSVKEEATALLRKALTEECGRRSAIHSSESSCSLPSILNDNSGIKEAKP
  AVWLNSVPTREQEVSSGCGDKSKKENVAADIPITETEAYQLLKKATLQDNTNQTENRFQKTDASVSHLSGLNIGS
  GAFETKTANKIASEASFSSSEGSPLSRHENKKKPVINLKSNALWDESDDSNSEIEAALRPRNHNTDDSDDFYD

• Structural information:
  • Interpro: IPR026742  
  • STRING: ENSP00000479542
• Other Databases: GeneCards:  KIZ  Malacards:  KIZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005813	centrosome	IBA	cellular component
GO:0007051	spindle organization	IBA	biological process
GO:0005813	centrosome	IDA	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0007051	spindle organization	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0007051	spindle organization	IMP	biological process

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Retinitis pigmentosa	KEGG:H00527
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq