• Gene id: 54069

Gene Summary

• Gene Symbol: MIS18A   Gene   UCSC   Ensembl
• Aliases: B28, C21orf45, C21orf46, FASP1, MIS18alpha, hMis18alpha
• Gene name: MIS18 kinetochore protein A
• Alternate names: protein Mis18-alpha, FAPP1-associated protein 1, MIS18 kinetochore protein homolog A,
• Gene location: 21q22.11 (32283953: 32154681)     Exons: 9     NC_000021.9
• OMIM: 618137

Protein Summary

• Protein general information: Q9NYP9  
  • Name: Protein Mis18 alpha (FAPP1 associated protein 1)
  • Length: 233  
  • Mass: 25863
  • Tissue specificity: Detected in testis. {ECO
• Sequence:

  MAGVRSLRCSRGCAGGCECGDKGKCSDSSLLGKRLSEDSSRHQLLQKWASMWSSMSEDASVADMERAQLEEEAAA
  AEERPLVFLCSGCRRPLGDSLSWVASQEDTNCILLRCVSCNVSVDKEQKLSKREKENGCVLETLCCAGCSLNLGY
  VYRCTPKNLDYKRDLFCLSVEAIESYVLGSSEKQIVSEDKELFNLESRVEIEKSLTQMEDVLKALQMKLWEAESK
  LSFATCKS

• Structural information:
  • Protein Domains: (80..17-)
    (/note="Mis18-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01129"-)
  • Interpro: IPR034752  IPR004910  
  • Prosite: PS51793
  • STRING: ENSP00000290130
• Other Databases: GeneCards:  MIS18A  Malacards:  MIS18A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034080	CENP-A containing nucleosome assembly	IBA	biological process
GO:0007059	chromosome segregation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000785	chromatin	IBA	cellular component
GO:0000775	chromosome, centromeric region	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	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:0034080	CENP-A containing nucleosome assembly	TAS	biological process
GO:0042802	identical 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: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: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: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:0044030	regulation of DNA methylation	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0034080	CENP-A containing nucleosome assembly	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R