• Gene id: 25929

Gene Summary

• Gene Symbol: GEMIN5   Gene   UCSC   Ensembl
• Aliases: GEMIN-5
• Gene name: gem nuclear organelle associated protein 5
• Alternate names: gem-associated protein 5,
• Gene location: 5q33.2 (154938215: 154887410)     Exons: 28     NC_000005.10
• Gene summary(Entrez): This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also m
• OMIM: 607005

Protein Summary

• Protein general information: Q8TEQ6  
  • Name: Gem associated protein 5 (Gemin5)
  • Length: 1508  
  • Mass: 168589
• Sequence:

  MGQEPRTLPPSPNWYCARCSDAVPGGLFGFAARTSVFLVRVGPGAGESPGTPPFRVIGELVGHTERVSGFTFSHH
  PGQYNLCATSSDDGTVKIWDVETKTVVTEHALHQHTISTLHWSPRVKDLIVSGDEKGVVFCYWFNRNDSQHLFIE
  PRTIFCLTCSPHHEDLVAIGYKDGIVVIIDISKKGEVIHRLRGHDDEIHSIAWCPLPGEDCLSINQEETSEEAEI
  TNGNAVAQAPVTKGCYLATGSKDQTIRIWSCSRGRGVMILKLPFLKRRGGGIDPTVKERLWLTLHWPSNQPTQLV
  SSCFGGELLQWDLTQSWRRKYTLFSASSEGQNHSRIVFNLCPLQTEDDKQLLLSTSMDRDVKCWDIATLECSWTL
  PSLGGFAYSLAFSSVDIGSLAIGVGDGMIRVWNTLSIKNNYDVKNFWQGVKSKVTALCWHPTKEGCLAFGTDDGK
  VGLYDTYSNKPPQISSTYHKKTVYTLAWGPPVPPMSLGGEGDRPSLALYSCGGEGIVLQHNPWKLSGEAFDINKL
  IRDTNSIKYKLPVHTEISWKADGKIMALGNEDGSIEIFQIPNLKLICTIQQHHKLVNTISWHHEHGSQPELSYLM
  ASGSNNAVIYVHNLKTVIESSPESPVTITEPYRTLSGHTAKITSVAWSPHHDGRLVSASYDGTAQVWDALREEPL
  CNFRGHRGRLLCVAWSPLDPDCIYSGADDFCVHKWLTSMQDHSRPPQGKKSIELEKKRLSQPKAKPKKKKKPTLR
  TPVKLESIDGNEEESMKENSGPVENGVSDQEGEEQAREPELPCGLAPAVSREPVICTPVSSGFEKSKVTINNKVI
  LLKKEPPKEKPETLIKKRKARSLLPLSTSLDHRSKEELHQDCLVLATAKHSRELNEDVSADVEERFHLGLFTDRA
  TLYRMIDIEGKGHLENGHPELFHQLMLWKGDLKGVLQTAAERGELTDNLVAMAPAAGYHVWLWAVEAFAKQLCFQ
  DQYVKAASHLLSIHKVYEAVELLKSNHFYREAIAIAKARLRPEDPVLKDLYLSWGTVLERDGHYAVAAKCYLGAT
  CAYDAAKVLAKKGDAASLRTAAELAAIVGEDELSASLALRCAQELLLANNWVGAQEALQLHESLQGQRLVFCLLE
  LLSRHLEEKQLSEGKSSSSYHTWNTGTEGPFVERVTAVWKSIFSLDTPEQYQEAFQKLQNIKYPSATNNTPAKQL
  LLHICHDLTLAVLSQQMASWDEAVQALLRAVVRSYDSGSFTIMQEVYSAFLPDGCDHLRDKLGDHQSPATPAFKS
  LEAFFLYGRLYEFWWSLSRPCPNSSVWVRAGHRTLSVEPSQQLDTASTEETDPETSQPEPNRPSELDLRLTEEGE
  RMLSTFKELFSEKHASLQNSQRTVAEVQETLAEMIRQHQKSQLCKSTANGPDKNEPEVEAEQPLCSSQSQCKEEK
  NEPLSLPELTKRLTEANQRMAKFPESIKAWPFPDVLECCLVLLLIRSHFPGCLAQEMQQQAQELLQKYGNTKTYR
  RHCQTFCM

• Structural information:
  • Interpro: IPR024977  IPR020472  IPR011047  IPR015943  IPR001680   IPR019775  IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 5GXH 5GXI 5H1J 5H1K 5H1L 5H1M 5H3S 5H3T 5H3U 5TEE 5TEF 5THA 6RNQ 6RNS
  • PDBsum: 5GXH 5GXI 5H1J 5H1K 5H1L 5H1M 5H3S 5H3T 5H3U 5TEE 5TEF 5THA 6RNQ 6RNS
  • STRING: ENSP00000285873
• Other Databases: GeneCards:  GEMIN5  Malacards:  GEMIN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032797	SMN complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000387	spliceosomal snRNP assembly	IDA	biological process
GO:0030622	U4atac snRNA binding	IDA	molecular function
GO:0032797	SMN complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0034718	SMN-Gemin2 complex	IDA	cellular component
GO:0030621	U4 snRNA binding	IDA	molecular function
GO:0043022	ribosome binding	IDA	molecular function
GO:0000340	RNA 7-methylguanosine cap binding	IDA	molecular function
GO:0030621	U4 snRNA binding	IDA	molecular function
GO:0000340	RNA 7-methylguanosine cap binding	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0000340	RNA 7-methylguanosine cap binding	IDA	molecular function
GO:0034719	SMN-Sm protein complex	IDA	cellular component
GO:0030619	U1 snRNA binding	IDA	molecular function
GO:0030619	U1 snRNA binding	IDA	molecular function
GO:0003730	mRNA 3'-UTR binding	IDA	molecular function
GO:0030619	U1 snRNA binding	IDA	molecular function
GO:0006417	regulation of translation	IMP	biological process
GO:0006417	regulation of translation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006412	translation	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	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:0005654	nucleoplasm	IEA	cellular component
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0017069	snRNA binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0003723	RNA binding	HDA	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:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0065003	protein-containing complex 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

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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)