• Gene id: 90417

Gene Summary

• Gene Symbol: KNSTRN   Gene   UCSC   Ensembl
• Aliases: C15orf23, HSD11, SKAP, TRAF4AF1
• Gene name: kinetochore localized astrin (SPAG5) binding protein
• Alternate names: small kinetochore-associated protein, TRAF4 associated factor 1, kinastrin, kinetochore-localized astrin-binding protein, putative TRAF4-associated factor 1, small kinetochore associated protein, small kinetochore-associated protein, kinetochore-localized astri,
• Gene location: 15q15.1 (40382720: 40394287)     Exons: 9     NC_000015.10
• OMIM: 614718

Protein Summary

• Protein general information: Q9Y448  
  • Name: Small kinetochore associated protein (SKAP) (Kinetochore localized astrin binding protein) (Kinastrin) (Kinetochore localized astrin/SPAG5 binding protein) (TRAF4 associated factor 1)
  • Length: 316  
  • Mass: 35438
  • Tissue specificity: Widely expressed, including in skin. {ECO
• Sequence:

  MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEKDCGQDRRAPGVQPCR
  LVTMTSVVKTVYSLQPPSALSGGQPADTQTRATSKSLLPVRSKEVDVSKQLHSGGPENDVTKITKLRRENGQMKA
  TDTATRRNVRKGYKPLSKQKSEEELKDKNQLLEAVNKQLHQKLTETQGELKDLTQKVELLEKFRDNCLAILESKG
  LDPALGSETLASRQESTTDHMDSMLLLETLQEELKLFNETAKKQMEELQALKVKLEMKEERVRFLEQQTLCNNQV
  NDLTTALKEMEQLLEM

• Structural information:
  • Interpro: IPR033373  
  • DIP: 31247
  • STRING: ENSP00000249776
• Other Databases: GeneCards:  KNSTRN  Malacards:  KNSTRN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001726	ruffle	IDA	cellular component
GO:0051010	microtubule plus-end binding	IDA	molecular function
GO:0035371	microtubule plus-end	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016477	cell migration	IMP	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0071364	cellular response to epidermal growth factor stimulus	IMP	biological process
GO:0000776	kinetochore	IDA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0035371	microtubule plus-end	IDA	cellular component
GO:0051988	regulation of attachment of spindle microtubules to kinetochore	IMP	biological process
GO:0007051	spindle organization	IMP	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000070	mitotic sister chromatid segregation	IMP	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0007051	spindle organization	IEA	biological process
GO:0051988	regulation of attachment of spindle microtubules to kinetochore	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0000776	kinetochore	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	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: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:0005634	nucleus	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0000777	condensed chromosome kinetochore	IEA	cellular component
GO:0072686	mitotic spindle	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0034451	centriolar satellite	IDA	cellular component

Diseases

Associated diseases	References
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R