• Gene id: 7284

Gene Summary

• Gene Symbol: TUFM   Gene   UCSC   Ensembl
• Aliases: COXPD4, EF-TuMT, EFTU, P43
• Gene name: Tu translation elongation factor, mitochondrial
• Alternate names: elongation factor Tu, mitochondrial, EF-Tu, epididymis secretory sperm binding protein,
• Gene location: 16p11.2 (28846347: 28842410)     Exons: 10     NC_000016.10
• Gene summary(Entrez): This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has b
• OMIM: 602389

Protein Summary

• Protein general information: P49411  
  • Name: Elongation factor Tu, mitochondrial (EF Tu) (P43)
  • Length: 452  
  • Mass: 49542
• Sequence:

  MAAATLLRATPHFSGLAAGRTFLLQGLLRLLKAPALPLLCRGLAVEAKKTYVRDKPHVNVGTIGHVDHGKTTLTA
  AITKILAEGGGAKFKKYEEIDNAPEERARGITINAAHVEYSTAARHYAHTDCPGHADYVKNMITGTAPLDGCILV
  VAANDGPMPQTREHLLLARQIGVEHVVVYVNKADAVQDSEMVELVELEIRELLTEFGYKGEETPVIVGSALCALE
  GRDPELGLKSVQKLLDAVDTYIPVPARDLEKPFLLPVEAVYSVPGRGTVVTGTLERGILKKGDECELLGHSKNIR
  TVVTGIEMFHKSLERAEAGDNLGALVRGLKREDLRRGLVMVKPGSIKPHQKVEAQVYILSKEEGGRHKPFVSHFM
  PVMFSLTWDMACRIILPPEKELAMPGEDLKFNLILRQPMILEKGQRFTLRDGNRTIGTGLVTNTLAMTEEEKNIK
  WG

• Structural information:
  • Protein Domains: (55..25-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR041709  IPR004161  IPR033720  IPR031157  IPR027417   IPR000795  IPR009000  IPR009001  IPR004541  IPR004160  
  • Prosite: PS00301 PS51722
  • CDD: cd01884 cd03697
  • STRING: ENSP00000322439
• Other Databases: GeneCards:  TUFM  Malacards:  TUFM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006414	translational elongation	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0000166	nucleotide binding	IEA	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:0045471	response to ethanol	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006414	translational elongation	IDA	biological process
GO:0003746	translation elongation factor activity	IDA	molecular function
GO:0005739	mitochondrion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0006414	translational elongation	IBA	biological process
GO:0003746	translation elongation factor activity	IBA	molecular function
GO:0070125	mitochondrial translational elongation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
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

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray