Gene Gene information from NCBI Gene database.
Entrez ID 22929
Gene name Selenophosphate synthetase 1
Gene symbol SEPHS1
Synonyms (NCBI Gene)
SELDSPSSPS1
Chromosome 10
Chromosome location 10p13
Summary 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
miRNA miRNA information provided by mirtarbase database.
416
miRTarBase ID miRNA Experiments Reference
MIRT016476 hsa-miR-193b-3p Microarray 20304954
MIRT046882 hsa-miR-221-3p CLASH 23622248
MIRT041988 hsa-miR-484 CLASH 23622248
MIRT040065 hsa-miR-615-3p CLASH 23622248
MIRT699761 hsa-miR-34b-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004756 Function Selenide, water dikinase activity IBA
GO:0004756 Function Selenide, water dikinase activity IEA
GO:0005515 Function Protein binding IPI 20471958, 21516116, 25416956, 32296183, 33961781
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600902 19685 ENSG00000086475
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49903
Protein name Selenide, water dikinase 1 (EC 2.7.9.3) (Selenium donor protein 1) (Selenophosphate synthase 1)
Protein function Synthesizes selenophosphate from selenide and ATP.
PDB 3FD5 , 3FD6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00586 AIRS 59 180 AIR synthase related protein, N-terminal domain Domain
PF02769 AIRS_C 192 368 AIR synthase related protein, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Gradually expressed during the cell cycle until G2/M phase and then decreases. {ECO:0000269|PubMed:20471958}.; TISSUE SPECIFICITY: [Isoform 2]: Gradually expressed during the cell cycle until G2/M phase and then decreases.
Sequence
Sequence length 392
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Selenocompound metabolism
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
SEPHS1-related disorder Pathogenic rs2131679103 RCV003992564
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VERVERI-BRADY SYNDROME 2 Pathogenic; Likely pathogenic rs2131679103 RCV005638163
RCV005638164
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEURODEVELOPMENTAL DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anxiety Anxiety Disorder BEFREE 30252721, 30878321, 31675602
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 30252721, 30878321, 31675602
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 37072373, 38025761 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30287033
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 34564978 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30521889
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35807897 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease BEFREE 23112913
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 23112913 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 30252721
★☆☆☆☆
Found in Text Mining only