• Gene id: 85476

Gene Summary

• Gene Symbol: GFM1   Gene   UCSC   Ensembl
• Aliases: COXPD1, EFG, EFG1, EFGM, EGF1, GFM, hEFG1, mtEF-G1
• Gene name: G elongation factor mitochondrial 1
• Alternate names: elongation factor G, mitochondrial, G translation elongation factor, mitochondrial, mitochondrial elongation factor G, mitochondrial elongation factor G1,
• Gene location: 3q25.32 (158644526: 158695580)     Exons: 19     NC_000003.12
• Gene summary(Entrez): Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-o
• OMIM: 606639

Protein Summary

• Protein general information: Q96RP9  
  • Name: Elongation factor G, mitochondrial (EF Gmt) (Elongation factor G 1, mitochondrial) (mEF G 1) (Elongation factor G1) (hEFG1)
  • Length: 751  
  • Mass: 83471
• Sequence:

  MRLLGAAAVAALGRGRAPASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAK
  MHEVKGKDGVGAVMDSMELERQRGITIQSAATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGG
  VQCQTMTVNRQMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGNFKGIVDLIEERAIYF
  DGDFGQIVRYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSA
  LKNKGVQPLLDAVLEYLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEVGRFGQLTYVRSYQ
  GELKKGDTIYNTRTRKKVRLQRLARMHADMMEDVEEVYAGDICALFGIDCASGDTFTDKANSGLSMESIHVPDPV
  ISIAMKPSNKNDLEKFSKGIGRFTREDPTFKVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAF
  RETITAPVPFDFTHKKQSGGAGQYGKVIGVLEPLDPEDYTKLEFSDETFGSNIPKQFVPAVEKGFLDACEKGPLS
  GHKLSGLRFVLQDGAHHMVDSNEISFIRAGEGALKQALANATLCILEPIMAVEVVAPNEFQGQVIAGINRRHGVI
  TGQDGVEDYFTLYADVPLNDMFGYSTELRSCTEGKGEYTMEYSRYQPCLPSTQEDVINKYLEATGQLPVKKGKAK
  N

• Structural information:
  • Protein Domains: (44..32-)
    (/note="tr-type-G")
  • Interpro: IPR041095  IPR009022  IPR035647  IPR035649  IPR000640   IPR004161  IPR031157  IPR027417  IPR020568  IPR014721  IPR005225  IPR000795  IPR009000  IPR004540  IPR005517  
  • Prosite: PS00301 PS51722
  • CDD: cd16262 cd01434 cd04097
  • STRING: ENSP00000419038
• Other Databases: GeneCards:  GFM1  Malacards:  GFM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0003746	translation elongation factor activity	IBA	molecular function
GO:0070125	mitochondrial translational elongation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0003746	translation elongation factor activity	IDA	molecular function
GO:0070125	mitochondrial translational elongation	IDA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006414	translational elongation	IEA	biological process
GO:0006414	translational elongation	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0070125	mitochondrial translational elongation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0070125	mitochondrial translational elongation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006414	translational elongation	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
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)