• Gene id: 54960

Gene Summary

• Gene Symbol: GEMIN8   Gene   UCSC   Ensembl
• Aliases: FAM51A1
• Gene name: gem nuclear organelle associated protein 8
• Alternate names: gem-associated protein 8, family with sequence similarity 51, member A1, gemin-8,
• Gene location: Xp22.2 (14029917: 14002493)     Exons: 7     NC_000023.11
• Gene summary(Entrez): The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating thei
• OMIM: 300962

Protein Summary

• Protein general information: Q9NWZ8  
  • Name: Gem associated protein 8 (Gemin 8) (Protein FAM51A1)
  • Length: 242  
  • Mass: 28637
• Sequence:

  MAAVKASTSKATRPWYSHPVYARYWQHYHQAMAWMQSHHNAYRKAVESCFNLPWYLPSALLPQSSYDNEAAYPQS
  FYDHHVAWQDYPCSSSHFRRSGQHPRYSSRIQASTKEDQALSKEEEMETESDAEVECDLSNMEITEELRQYFAET
  ERHREERRRQQQLDAERLDSYVNADHDLYCNTRRSVEAPTERPGERRQAEMKRLYGDSAAKIQAMEAAVQLSFDK
  HCDRKQPKYWPVIPLKF

• Structural information:
  • Interpro: IPR034754  
  • STRING: ENSP00000369895
• Other Databases: GeneCards:  GEMIN8  Malacards:  GEMIN8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008380	RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0051170	import into nucleus	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
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:0005737	cytoplasm	IEA	cellular component
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0032797	SMN complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0032797	SMN complex	IBA	cellular component
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0034719	SMN-Sm protein complex	IBA	cellular component
GO:0032797	SMN complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IEA	biological process
GO:0032797	SMN complex	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
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)