• Gene id: 79980

Gene Summary

• Gene Symbol: DSN1   Gene   UCSC   Ensembl
• Aliases: C20orf172, KNL3, MIS13, dJ469A13.2, hKNL-3
• Gene name: DSN1 component of MIS12 kinetochore complex
• Alternate names: kinetochore-associated protein DSN1 homolog, DSN1 homolog, MIS12 kinetochore complex component, DSN1, MIND kinetochore complex component, homolog, DSN1, MIS12 kinetochore complex component, kinetochore null 3 homolog,
• Gene location: 20q11.23 (36773814: 36751790)     Exons: 12     NC_000020.11
• Gene summary(Entrez): This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in
• OMIM: 609175

Protein Summary

• Protein general information: Q9H410  
  • Name: Kinetochore associated protein DSN1 homolog
  • Length: 356  
  • Mass: 40067
• Sequence:

  MTSVTRSEIIDEKGPVMSKTHDHQLESSLSPVEVFAKTSASLEMNQGVSEERIHLGSSPKKGGNCDLSHQERLQS
  KSLHLSPQEQSASYQDRRQSWRRASMKETNRRKSLHPIHQGITELSRSISVDLAESKRLGCLLLSSFQFSIQKLE
  PFLRDTKGFSLESFRAKASSLSEELKHFADGLETDGTLQKCFEDSNGKASDFSLEASVAEMKEYITKFSLERQTW
  DQLLLHYQQEAKEILSRGSTEAKITEVKVEPMTYLGSSQNEVLNTKPDYQKILQNQSKVFDCMELVMDELQGSVK
  QLQAFMDESTQCFQKVSVQLGKRSMQQLDPSPARKLLKLQLQNPPAIHGSGSGSCQ

• Structural information:
  • Interpro: IPR013218  
  • PDB: 5LSI 5LSJ 5LSK
  • PDBsum: 5LSI 5LSJ 5LSK
  • STRING: ENSP00000389810
• Other Databases: GeneCards:  DSN1  Malacards:  DSN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000818	nuclear MIS12/MIND complex	IBA	cellular component
GO:0000941	condensed nuclear chromosome inner kinetochore	IBA	cellular component
GO:0000922	spindle pole	IBA	cellular component
GO:0000070	mitotic sister chromatid segregation	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000444	MIS12/MIND type complex	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	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:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000777	condensed chromosome kinetochore	IDA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000444	MIS12/MIND type complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray