• Gene id: 51091

Gene Summary

• Gene Symbol: SEPSECS   Gene   UCSC   Ensembl
• Aliases: LP, PCH2D, SLA, SLA/LP
• Gene name: Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
• Alternate names: O-phosphoseryl-tRNA(Sec) selenium transferase, SLA-p35, SLA/LP autoantigen, UGA suppressor tRNA-associated protein, liver-pancreas antigen, soluble liver antigen, soluble liver antigen/liver pancreas antigen, tRNA(Ser/Sec)-associated antigenic protein,
• Gene location: 4p15.2 (25160545: 25120013)     Exons: 13     NC_000004.12
• Gene summary(Entrez): The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process,
• OMIM: 613009

Protein Summary

• Protein general information: Q9HD40  
  • Name: O phosphoseryl tRNA(Sec) selenium transferase (EC 2.9.1.2) (Liver pancreas antigen) (LP) (SLA p35) (SLA/LP autoantigen) (Selenocysteine synthase) (Sec synthase) (Selenocysteinyl tRNA(Sec) synthase) (Sep tRNA:Sec tRNA synthase) (SepSecS) (Soluble liver ant
  • Length: 501  
  • Mass: 55726
  • Tissue specificity: Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells.
• Sequence:

  MNRESFAAGERLVSPAYVRQGCEARRSHEHLIRLLLEKGKCPENGWDESTLELFLHELAIMDSNNFLGNCGVGER
  EGRVASALVARRHYRFIHGIGRSGDISAVQPKAAGSSLLNKITNSLVLDIIKLAGVHTVANCFVVPMATGMSLTL
  CFLTLRHKRPKAKYIIWPRIDQKSCFKSMITAGFEPVVIENVLEGDELRTDLKAVEAKVQELGPDCILCIHSTTS
  CFAPRVPDRLEELAVICANYDIPHIVNNAYGVQSSKCMHLIQQGARVGRIDAFVQSLDKNFMVPVGGAIIAGFND
  SFIQEISKMYPGRASASPSLDVLITLLSLGSNGYKKLLKERKEMFSYLSNQIKKLSEAYNERLLHTPHNPISLAM
  TLKTLDEHRDKAVTQLGSMLFTRQVSGARVVPLGSMQTVSGYTFRGFMSHTNNYPCAYLNAASAIGMKMQDVDLF
  IKRLDRCLKAVRKERSKESDDNYDKTEDVDIEEMALKLDNVLLDTYQDASS

• Structural information:
  • Interpro: IPR019793  IPR015424  IPR015421  IPR019872  IPR008829  
  • PDB: 3HL2 4ZDL 4ZDO 4ZDP
  • PDBsum: 3HL2 4ZDL 4ZDO 4ZDP
  • STRING: ENSP00000371535
• Other Databases: GeneCards:  SEPSECS  Malacards:  SEPSECS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	ISS	molecular function
GO:0001514	selenocysteine incorporation	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0000049	tRNA binding	IBA	molecular function
GO:0001514	selenocysteine incorporation	IBA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016785	transferase activity, transferring selenium-containing groups	IEA	molecular function
GO:0097056	selenocysteinyl-tRNA(Sec) biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000049	tRNA binding	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0016259	selenocysteine metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001514	selenocysteine incorporation	IEA	biological process
GO:0000049	tRNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0097056	selenocysteinyl-tRNA(Sec) biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00970	Aminoacyl-tRNA biosynthesis
hsa00450	Selenocompound metabolism

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray