• Gene id: 79631

Gene Summary

• Gene Symbol: EFL1   Gene   UCSC   Ensembl
• Aliases: EFTUD1, FAM42A, HsT19294, RIA1, SDS2
• Gene name: elongation factor like GTPase 1
• Alternate names: elongation factor-like GTPase 1, elongation factor Tu GTP binding domain containing 1, elongation factor Tu GTP-binding domain-containing protein 1, elongation factor-like 1, ribosome assembly 1 homolog,
• Gene location: 15q25.2 (80183417: 80204328)     Exons: 13     NC_000004.12
• OMIM: 617538

Protein Summary

• Protein general information: Q7Z2Z2  
  • Name: Elongation factor like GTPase 1 (Elongation factor Tu GTP binding domain containing protein 1) (Elongation factor like 1) (Protein FAM42A)
  • Length: 1120  
  • Mass: 125430
  • Tissue specificity: Expressed at low levels in brain. Expression is highly increased in glioma tissues. {ECO
• Sequence:

  MVLNSLDKMIQLQKNTANIRNICVLAHVDHGKTTLADCLISSNGIISSRLAGKLRYMDSREDEQIRGITMKSSAI
  SLHYATGNEEYLINLIDSPGHVDFSSEVSTAVRICDGCIIVVDAVEGVCPQTQAVLRQAWLENIRPVLVINKIDR
  LIVELKFTPQEAYSHLKNILEQINALTGTLFTSKVLEERAERETESQVNPNSEQGEQVYDWSTGLEDTDDSHLYF
  SPEQGNVVFTSAIDGWGFGIEHFARIYSQKIGIKKEVLMKTLWGDYYINMKAKKIMKGDQAKGKKPLFVQLILEN
  IWSLYDAVLKKDKDKIDKIVTSLGLKIGAREARHSDPKVQINAICSQWLPISHAVLAMVCQKLPSPLDITAERVE
  RLMCTGSQTFDSFPPETQALKAAFMKCGSEDTAPVIIFVSKMFAVDAKALPQNKPRPLTQEEIAQRRERARQRHA
  EKLAAAQGQAPLEPTQDGSAIETCPKGEEPRGDEQQVESMTPKPVLQEENNQESFIAFARVFSGVARRGKKIFVL
  GPKYSPLEFLRRVPLGFSAPPDGLPQVPHMAYCALENLYLLMGRELEYLEEVPPGNVLGIGGLQDFVLKSATLCS
  LPSCPPFIPLNFEATPIVRVAVEPKHPSEMPQLVKGMKLLNQADPCVQILIQETGEHVLVTAGEVHLQRCLDDLK
  ERFAKIHISVSEPIIPFRETITKPPKVDMVNEEIGKQQKVAVIHQMKEDQSKIPEGIQVDSDGLITITTPNKLAT
  LSVRAMPLPEEVTQILEENSDLIRSMEQLTSSLNEGENTHMIHQKTQEKIWEFKGKLEQHLTGRRWRNIVDQIWS
  FGPRKCGPNILVNKSEDFQNSVWTGPADKASKEASRYRDLGNSIVSGFQLATLSGPMCEEPLMGVCFVLEKWDLS
  KFEEQGASDLAKEGQEENETCSGGNENQELQDGCSEAFEKRTSQKGESPLTDCYGPFSGQLIATMKEACRYALQV
  KPQRLMAAMYTCDIMATGDVLGRVYAVLSKREGRVLQEEMKEGTDMFIIKAVLPVAESFGFADEIRKRTSGLASP
  QLVFSHWEIIPSDPFWVPTTEEEYLHFGEKADSENQARKYMNAVRKRKGLYVEEKIVEHAEKQRTLSKNK

• Structural information:
  • Protein Domains: (17..27-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR041095  IPR035647  IPR000640  IPR027417  IPR020568   IPR014721  IPR005225  IPR000795  IPR009000  
  • Prosite: PS51722
  • PDB: 5ANB 5ANC
  • PDBsum: 5ANB 5ANC
  • STRING: ENSP00000268206
• Other Databases: GeneCards:  EFL1  Malacards:  EFL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0043022	ribosome binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0042256	mature ribosome assembly	IBA	biological process
GO:0003924	GTPase activity	IDA	molecular function
GO:0046039	GTP metabolic process	IDA	biological process
GO:0043022	ribosome binding	IMP	molecular function
GO:0042256	mature ribosome assembly	IMP	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0006414	translational elongation	IEA	biological process
GO:0003746	translation elongation factor activity	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Shwachman-Diamond syndrome	KEGG:H00439
Shwachman-Diamond syndrome	KEGG:H00439
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray