• Gene id: 22929

Gene Summary

• Gene Symbol: SEPHS1   Gene   UCSC   Ensembl
• Aliases: SELD, SPS, SPS1
• Gene name: selenophosphate synthetase 1
• Alternate names: selenide, water dikinase 1, selenium donor protein 1, selenophosphate synthase 1, selenophosphate synthetase 1 +E9, selenophosphate synthetase 1 +E9a, selenophosphate synthetase 1 delta E2, selenophosphate synthetase 1 delta E8, selenophosphate synthetase 1 majo,
• Gene location: 10p13 (13348297: 13317427)     Exons: 10     NC_000010.11
• Gene summary(Entrez): This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by
• OMIM: 600902

Protein Summary

• Protein general information: P49903  
  • Name: Selenide, water dikinase 1 (EC 2.7.9.3) (Selenium donor protein 1) (Selenophosphate synthase 1)
  • Length: 392  
  • Mass: 42911
  • Tissue specificity: [Isoform 1]
• Sequence:

  MSTRESFNPESYELDKSFRLTRFTELKGTGCKVPQDVLQKLLESLQENHFQEDEQFLGAVMPRLGIGMDTCVIPL
  RHGGLSLVQTTDYIYPIVDDPYMMGRIACANVLSDLYAMGVTECDNMLMLLGVSNKMTDRERDKVMPLIIQGFKD
  AAEEAGTSVTGGQTVLNPWIVLGGVATTVCQPNEFIMPDNAVPGDVLVLTKPLGTQVAVAVHQWLDIPEKWNKIK
  LVVTQEDVELAYQEAMMNMARLNRTAAGLMHTFNAHAATDITGFGILGHAQNLAKQQRNEVSFVIHNLPVLAKMA
  AVSKACGNMFGLMHGTCPETSGGLLICLPREQAARFCAEIKSPKYGEGHQAWIIGIVEKGNRTARIIDKPRIIEV
  APQVATQNVNPTPGATS

• Structural information:
  • Interpro: IPR010918  IPR036676  IPR016188  IPR036921  IPR004536  
  • CDD: cd02195
  • PDB: 3FD5 3FD6
  • PDBsum: 3FD5 3FD6
  • STRING: ENSP00000367893
• Other Databases: GeneCards:  SEPHS1  Malacards:  SEPHS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016260	selenocysteine biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004756	selenide, water dikinase activity	IBA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0006464	cellular protein modification process	TAS	biological process
GO:0004756	selenide, water dikinase activity	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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:0005737	cytoplasm	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00450	Selenocompound metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq