• Gene id: 56269

Gene Summary

• Gene Symbol: IRGC   Gene   UCSC   Ensembl
• Aliases: CINEMA, IFGGE, IRGC1, Iigp5, R30953_1
• Gene name: immunity related GTPase cinema
• Alternate names: interferon-inducible GTPase 5, immunity-related GTPase cinema 1, immunity-related GTPase family, cinema 1, interferon-gamma-inducible GTPase IFGGE protein,
• Gene location: 19q13.31 (43716067: 43720020)     Exons: 3     NC_000019.10

Protein Summary

• Protein general information: Q6NXR0  
  • Name: Interferon inducible GTPase 5 (EC 3.6.5. ) (Immunity related GTPase cinema 1)
  • Length: 463  
  • Mass: 50288
• Sequence:

  MATSKLPVVPGEEENTILMAKERLEALRTAFESGDLPQAASHLQELLASTESIRLEVGVTGESGAGKSSLINALR
  GLEAEDPGAALTGVMETTMQPSPYPHPQFPDVTLWDLPGAGSPGCPADKYLKQVDFSRYDFFLLVSPRRCGAVET
  RLAAEILCQGKKFYFVRTKVDEDLAATRTQRPSGFREAAVLQEIRDHCAERLREAGVADPRIFLVSNLSPARYDF
  PTLVSTWEHDLPSHRRHAGLLSLPDISLEALQKKKAMLQEQVLKTALVLGVIQALPVPGLAAAYDDALLIHSLRG
  YHRSFGLDDDSLAKLAEQVGKQAGDLRSVIRSPLANEVSPETVLRLYSQSSDGAMRVARAFERGIPVFGTLVAGG
  ISFGAVYTMLQGCLNEMAEDAQRVRIKALEDDEPQPEVSLEVASDNGVEKGGSGEGGGEEAPLSTCRKLGLLLKY
  ILDSWKKHDSEEK

• Structural information:
  • Protein Domains: (53..23-)
    (/note="IRG-type-G")
  • Interpro: IPR030385  IPR007743  IPR027417  
  • Prosite: PS51716
  • STRING: ENSP00000244314
• Other Databases: GeneCards:  IRGC  Malacards:  IRGC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005525	GTP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

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)
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray