• Gene id: 79760

Gene Summary

• Gene Symbol: GEMIN7   Gene   UCSC   Ensembl
• Aliases: SIP3
• Gene name: gem nuclear organelle associated protein 7
• Alternate names: gem-associated protein 7, gemin-7,
• Gene location: 19q13.32 (45075626: 45091517)     Exons: 5     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three trans
• OMIM: 612060

Protein Summary

• Protein general information: Q9H840  
  • Name: Gem associated protein 7 (Gemin 7) (SIP3)
  • Length: 131  
  • Mass: 14537
• Sequence:

  MQTPVNIPVPVLRLPRGPDGFSRGFAPDGRRAPLRPEVPEIQECPIAQESLESQEQRARAALRERYLRSLLAMVG
  HQVSFTLHEGVRVAAHFGATDLDVANFYVSQLQTPIGVQAEALLRCSDIISYTFKP

• Structural information:
  • Interpro: IPR020338  
  • CDD: cd11677
  • PDB: 1Y96
  • PDBsum: 1Y96
  • DIP: 41750
  • STRING: ENSP00000270257
• Other Databases: GeneCards:  GEMIN7  Malacards:  GEMIN7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034719	SMN-Sm protein complex	IBA	cellular component
GO:0032797	SMN complex	IBA	cellular component
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0032797	SMN complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0097504	Gemini of coiled bodies	IDA	cellular component
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0034719	SMN-Sm protein complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
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: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:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
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:0000398	mRNA splicing, via spliceosome	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881