Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 22929
MIM: 600902
HGNC: 19685
Ensembl: ENSG00000086475
Variants:
dbSNP: 22929
ClinVar: 22929
TCGA: ENSG00000086475
COSMIC: SEPHS1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Selenocompound metabolism | KEGG | ko00450 |
| Selenocompound metabolism | KEGG | hsa00450 |
| Metabolic pathways | KEGG | hsa01100 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38531365 | 2024 | De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. | 0 |
| 38531365 | 2024 | De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. | 0 |
| 35140209 | 2022 | Selenophosphate synthetase 1 deficiency exacerbates osteoarthritis by dysregulating redox homeostasis. | 28 |
| 35140209 | 2022 | Selenophosphate synthetase 1 deficiency exacerbates osteoarthritis by dysregulating redox homeostasis. | 28 |
| 31607477 | 2019 | The role of selenium-mediated redox signaling by selenophosphate synthetase 1 (SEPHS1) in hESCs. | 2 |
| 31607477 | 2019 | The role of selenium-mediated redox signaling by selenophosphate synthetase 1 (SEPHS1) in hESCs. | 2 |
| 28414460 | 2017 | Analysis of Novel Interactions between Components of the Selenocysteine Biosynthesis Pathway, SEPHS1, SEPHS2, SEPSECS, and SECp43. | 9 |
| 28414460 | 2017 | Analysis of Novel Interactions between Components of the Selenocysteine Biosynthesis Pathway, SEPHS1, SEPHS2, SEPSECS, and SECp43. | 9 |
| 23112913 | 2012 | Selenium, selenoprotein genes and Crohn's disease in a case-control population from Auckland, New Zealand. | 20 |
| 23112913 | 2012 | Selenium, selenoprotein genes and Crohn's disease in a case-control population from Auckland, New Zealand. | 20 |
| 20471958 | 2010 | Human selenophosphate synthetase 1 has five splice variants with unique interactions, subcellular localizations and expression patterns. | 8 |
| 20471958 | 2010 | Human selenophosphate synthetase 1 has five splice variants with unique interactions, subcellular localizations and expression patterns. | 8 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16786570 | 2006 | p53-Mediated enhancement of radiosensitivity by selenophosphate synthetase 1 overexpression. | 6 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
Citation
Dessen P
SEPHS1 (selenophosphate synthetase 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46214/sephs1
