• Gene id: 60678

Gene Summary

• Gene Symbol: EEFSEC   Gene   UCSC   Ensembl
• Aliases: EFSEC, SELB
• Gene name: eukaryotic elongation factor, selenocysteine-tRNA specific
• Alternate names: selenocysteine-specific elongation factor, elongation factor for selenoprotein translation, elongation factor sec, selenocysteine (Sec)-specific eukaryotic elongation factor,
• Gene location: 3q21.3 (128153452: 128426192)     Exons: 12     NC_000003.12
• OMIM: 602943

SNPs

rs2999052

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.128173194T>C
NC_000003.11   g.127892037T>C
NW_019805490.1   g.42304C>T|SEQ=[T/C]|GENE=EEFSEC

Protein Summary

• Protein general information: P57772  
  • Name: Selenocysteine specific elongation factor (Elongation factor sec) (Eukaryotic elongation factor, selenocysteine tRNA specific)
  • Length: 596  
  • Mass: 65305
• Sequence:

  MAGRRVNVNVGVLGHIDSGKTALARALSTTASTAAFDKQPQSRERGITLDLGFSCFSVPLPARLRSSLPEFQAAP
  EAEPEPGEPLLQVTLVDCPGHASLIRTIIGGAQIIDLMMLVIDVTKGMQTQSAECLVIGQIACQKLVVVLNKIDL
  LPEGKRQAAIDKMTKKMQKTLENTKFRGAPIIPVAAKPGGPEAPETEAPQGIPELIELLTSQISIPTRDPSGPFL
  MSVDHCFSIKGQGTVMTGTILSGSISLGDSVEIPALKVVKKVKSMQMFHMPITSAMQGDRLGICVTQFDPKLLER
  GLVCAPESLHTVHAALISVEKIPYFRGPLQTKAKFHITVGHETVMGRLMFFSPAPDNFDQEPILDSFNFSQEYLF
  QEQYLSKDLTPAVTDNDEADKKAGQATEGHCPRQQWALVEFEKPVTCPRLCLVIGSRLDADIHTNTCRLAFHGIL
  LHGLEDRNYADSFLPRLKVYKLKHKHGLVERAMDDYSVIGRSLFKKETNIQLFVGLKVHLSTGELGIIDSAFGQS
  GKFKIHIPGGLSPESKKILTPALKKRARAGRGEATRQEESAERSEPSQHVVLSLTFKRYVFDTHKRMVQSP

• Structural information:
  • Protein Domains: (5..21-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR027417  IPR000795  IPR009000  
  • Prosite: PS51722
  • PDB: 5IZK 5IZL 5IZM
  • PDBsum: 5IZK 5IZL 5IZM
  • STRING: ENSP00000254730
• Other Databases: GeneCards:  EEFSEC  Malacards:  EEFSEC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006414	translational elongation	IBA	biological process
GO:0003746	translation elongation factor activity	IBA	molecular function
GO:0001514	selenocysteine incorporation	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000049	tRNA binding	IEA	molecular function
GO:0001514	selenocysteine incorporation	IEA	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:1990904	ribonucleoprotein complex	IEA	cellular component
GO:0035368	selenocysteine insertion sequence binding	IEA	molecular function
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 25108383

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25108383	Hypospadias	rs2999052		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS