• Gene id: 50628

Gene Summary

• Gene Symbol: GEMIN4   Gene   UCSC   Ensembl
• Aliases: HC56, HCAP1, HHRF-1, NEDMCR, p97
• Gene name: gem nuclear organelle associated protein 4
• Alternate names: gem-associated protein 4, HCC-associated protein 1, component of gems 4, gemin-4,
• Gene location: 17p13.3 (752867: 744420)     Exons: 10     NC_000017.11
• Gene summary(Entrez): The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes requi
• OMIM: 606969

Protein Summary

• Protein general information: P57678  
  • Name: Gem associated protein 4 (Gemin 4) (Component of gems 4) (p97)
  • Length: 1058  
  • Mass: 120037
• Sequence:

  MDLGPLNICEEMTILHGGFLLAEQLFHPKALAELTKSDWERVGRPIVEALREISSAAAHSQPFAWKKKALIIIWA
  KVLQPHPVTPSDTETRWQEDLFFSVGNMIPTINHTILFELLKSLEASGLFIQLLMALPTTICHAELERFLEHVTV
  DTSAEDVAFFLDVWWEVMKHKGHPQDPLLSQFSAMAHKYLPALDEFPHPPKRLRSDPDACPTMPLLAMLLRGLTQ
  IQSRILGPGRKCCALANLADMLTVFALTEDDPQEVSATVYLDKLATVISVWNSDTQNPYHQQALAEKVKEAERDV
  SLTSLAKLPSETIFVGCEFLHHLLREWGEELQAVLRSSQGTSYDSYRLCDSLTSFSQNATLYLNRTSLSKEDRQV
  VSELAECVRDFLRKTSTVLKNRALEDITASIAMAVIQQKMDRHMEVCYIFASEKKWAFSDEWVACLGSNRALFRQ
  PDLVLRLLETVIDVSTADRAIPESQIRQVIHLILECYADLSLPGKNKVLAGILRSWGRKGLSEKLLAYVEGFQED
  LNTTFNQLTQSASEQGLAKAVASVARLVIVHPEVTVKKMCSLAVVNLGTHKFLAQILTAFPALRFVEEQGPNSSA
  TFMVSCLKETVWMKFSTPKEEKQFLELLNCLMSPVKPQGIPVAALLEPDEVLKEFVLPFLRLDVEEVDLSLRIFI
  QTLEANACREEYWLQTCSPFPLLFSLCQLLDRFSKYWQLPKEKRCLSLDRKDLAIHILELLCEIVSANAETFSPD
  VWIKSLSWLHRKLEQLDWTVGLRLKSFFEGHFKCEVPATLFEICKLSEDEWTSQAHPGYGAGTGLLAWMECCCVS
  SGISERMLSLLVVDVGNPEEVRLFSKGFLVALVQVMPWCSPQEWQRLHQLTRRLLEKQLLHVPYSLEYIQFVPLL
  NLKPFAQELQLSVLFLRTFQFLCSHSCRDWLPLEGWNHVVKLLCGSLTRLLDSVRAIQAAGPWVQGPEQDLTQEA
  LFVYTQVFCHALHIMAMLHPEVCEPLYVLALETLTCYETLSKTNPSVSSLLQRAHEQRFLKSIAEGIGPEERRQT
  LLQKMSSF

• Structural information:
  • Interpro: IPR033265  
  • STRING: ENSP00000321706
• Other Databases: GeneCards:  GEMIN4  Malacards:  GEMIN4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0000387	spliceosomal snRNP assembly	IBA	biological process
GO:0032797	SMN complex	IBA	cellular component
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:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000387	spliceosomal snRNP assembly	IEA	biological process
GO:0032797	SMN complex	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0005730	nucleolus	TAS	cellular component
GO:0030532	small nuclear ribonucleoprotein complex	TAS	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0043021	ribonucleoprotein complex binding	IDA	molecular function
GO:0015030	Cajal body	IDA	cellular component
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: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:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097504	Gemini of coiled bodies	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray