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 RefSeq, Sep 2010] See more...

Aliases for SEPHS1 Gene

Aliases for SEPHS1 Gene

  • Selenophosphate Synthetase 1 2 3 5
  • Selenide, Water Dikinase 1 3 4
  • Selenophosphate Synthase 1 3 4
  • Selenium Donor Protein 1 3 4
  • EC 2.7.9.3 4 54
  • SELD 3 4
  • SPS1 3 4
  • SPS 3 4
  • Selenophosphate Synthetase 1 Delta E2 3
  • Selenophosphate Synthetase 1 Delta E8 3
  • Selenophosphate Synthetase 1 Major 3
  • Selenophosphate Synthetase 1 +E9a 3
  • Selenophosphate Synthetase 1 +E9 3
  • Selenide, Water Dikinase 2

External Ids for SEPHS1 Gene

Previous GeneCards Identifiers for SEPHS1 Gene

  • GC10M013364
  • GC10M013400
  • GC10M013272
  • GC10M013360

Summaries for SEPHS1 Gene

Entrez Gene Summary for SEPHS1 Gene

  • 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 RefSeq, Sep 2010]

GeneCards Summary for SEPHS1 Gene

SEPHS1 (Selenophosphate Synthetase 1) is a Protein Coding gene. Among its related pathways are Selenium Metabolism and Selenoproteins and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is SEPHS2.

UniProtKB/Swiss-Prot Summary for SEPHS1 Gene

Gene Wiki entry for SEPHS1 Gene

Additional gene information for SEPHS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SEPHS1 Gene

Genomics for SEPHS1 Gene

GeneHancer (GH) Regulatory Elements for SEPHS1 Gene

Promoters and enhancers for SEPHS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SEPHS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SEPHS1 gene promoter:
  • c-Ets-1
  • E47
  • p53
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B

Genomic Locations for SEPHS1 Gene

Genomic Locations for SEPHS1 Gene
chr10:13,317,428-13,348,298
(GRCh38/hg38)
Size:
30,871 bases
Orientation:
Minus strand
chr10:13,359,424-13,390,298
(GRCh37/hg19)
Size:
30,875 bases
Orientation:
Minus strand

Genomic View for SEPHS1 Gene

Genes around SEPHS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SEPHS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SEPHS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SEPHS1 Gene

Proteins for SEPHS1 Gene

  • Protein details for SEPHS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49903-SPS1_HUMAN
    Recommended name:
    Selenide, water dikinase 1
    Protein Accession:
    P49903
    Secondary Accessions:
    • B4DWK0
    • D3DRS9
    • D6PSQ9
    • Q5T5U8
    • Q5T5U9
    • Q9BVT4

    Protein attributes for SEPHS1 Gene

    Size:
    392 amino acids
    Molecular mass:
    42911 Da
    Quaternary structure:
    • Homodimer (isoform 1, isoform 2, isoform 3 and isoform 4). Heterodimer of isoform 1 and isoform 3. Heterodimer of isoform 2 and isoform 4.
    SequenceCaution:
    • Sequence=AAA87567.1; Type=Frameshift; Positions=377; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SEPHS1 Gene

    Alternative splice isoforms for SEPHS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SEPHS1 Gene

Selected DME Specific Peptides for SEPHS1 Gene

P49903:
  • QAWIIGIVEKGN
  • VTGGQTV
  • TDITGFG
  • VELAYQEAM
  • CDNMLMLL
  • CVIPLRHGGLSLVQTTD
  • KACGNMF
  • ERDKVMPL
  • TARIIDKPR
  • TSGGLLI
  • NAHAATD
  • PEKWNKIK
  • NEFIMPD
  • PIVDDPY
  • TGFGILGH
  • GDVLVLTKPLG
  • KYGEGHQAWI
  • RESFNPE
  • FRLTRFTELKGTGCKVPQDVLQKLLESLQENH

Post-translational modifications for SEPHS1 Gene

  • Ubiquitination at Lys139
  • Modification sites at PhosphoSitePlus

Domains & Families for SEPHS1 Gene

Gene Families for SEPHS1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SEPHS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60186, highly similar to Selenide, water dikinase 1 (EC 2.7.9.3) (B4DWK0_HUMAN)
  • Selenophosphate synthetase 1, isoform CRA_b (D3DRS9_HUMAN)
  • Selenophosphate synthase 1 (SPS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P49903

UniProtKB/Swiss-Prot:

SPS1_HUMAN :
  • Belongs to the selenophosphate synthase 1 family. Class II subfamily.
Family:
  • Belongs to the selenophosphate synthase 1 family. Class II subfamily.
genes like me logo Genes that share domains with SEPHS1: view

Function for SEPHS1 Gene

Molecular function for SEPHS1 Gene

UniProtKB/Swiss-Prot Function:
Synthesizes selenophosphate from selenide and ATP.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + hydrogenselenide = AMP + 2 H(+) + phosphate + selenophosphate; Xref=Rhea:RHEA:18737, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16144, ChEBI:CHEBI:29317, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456215; EC=2.7.9.3;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphate ions and by potassium ions.

Enzyme Numbers (IUBMB) for SEPHS1 Gene

Phenotypes From GWAS Catalog for SEPHS1 Gene

Gene Ontology (GO) - Molecular Function for SEPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004756 selenide, water dikinase activity IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0005524 ATP binding IEA,TAS --
GO:0005525 GTP binding TAS 7665581
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with SEPHS1: view
genes like me logo Genes that share phenotypes with SEPHS1: view

Animal Models for SEPHS1 Gene

MGI Knock Outs for SEPHS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SEPHS1

CRISPR Products

miRNA for SEPHS1 Gene

miRTarBase miRNAs that target SEPHS1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SEPHS1 Gene

Localization for SEPHS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SEPHS1 Gene

Isoform 1: Cell membrane. Nucleus membrane.
Isoform 2: Cytoplasm.
Isoform 3: Cytoplasm.
Isoform 4: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SEPHS1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SEPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with SEPHS1: view

Pathways & Interactions for SEPHS1 Gene

genes like me logo Genes that share pathways with SEPHS1: view

Pathways by source for SEPHS1 Gene

1 BioSystems pathway for SEPHS1 Gene
2 KEGG pathways for SEPHS1 Gene

Gene Ontology (GO) - Biological Process for SEPHS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001887 selenium compound metabolic process IBA 21873635
GO:0006464 cellular protein modification process TAS 7665581
GO:0016260 selenocysteine biosynthetic process IBA 21873635
GO:0016310 phosphorylation IEA --
GO:0070329 tRNA seleno-modification IBA 21873635
genes like me logo Genes that share ontologies with SEPHS1: view

No data available for SIGNOR curated interactions for SEPHS1 Gene

Drugs & Compounds for SEPHS1 Gene

(8) Drugs for SEPHS1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Selenium Approved, Investigational, Vet_approved Pharma 220
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(5) Additional Compounds for SEPHS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Selenophosphate
  • [P(OH)3Se]
  • Selenophosphate
  • Phosphoroselenoate
  • Selenophosphoric acid
  • Monoselenophosphoric acid
25758-66-1, 289702-60-9
Hydrogen selenide
  • [SeH2]
  • H2Se
  • Hydroselenic acid
  • Hydroselenate
  • Dihydrogen monoselenide
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with SEPHS1: view

Transcripts for SEPHS1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SEPHS1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - -
SP2: -
SP3:
SP4: -
SP5: -

Relevant External Links for SEPHS1 Gene

GeneLoc Exon Structure for
SEPHS1
ECgene alternative splicing isoforms for
SEPHS1

Expression for SEPHS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SEPHS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SEPHS1 Gene

This gene is overexpressed in Salivary gland (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SEPHS1 Gene



Protein tissue co-expression partners for SEPHS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SEPHS1 Gene:

SEPHS1

SOURCE GeneReport for Unigene cluster for SEPHS1 Gene:

Hs.124027

mRNA Expression by UniProt/SwissProt for SEPHS1 Gene:

P49903-SPS1_HUMAN
Tissue specificity: Isoform 1 and isoform 2 are gradually expressed during the cell cycle until G2/M phase and then decreased. Isoform 3 is gradually expressed during the cell cycle until S phase and then decreased.

Evidence on tissue expression from TISSUES for SEPHS1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
genes like me logo Genes that share expression patterns with SEPHS1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SEPHS1 Gene

Orthologs for SEPHS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SEPHS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SEPHS1 33 32
  • 99.57 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SEPHS1 33
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SEPHS1 33
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sephs1 32
  • 91.16 (n)
dog
(Canis familiaris)
Mammalia SEPHS1 33 32
  • 90.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SEPHS1 33 32
  • 90.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sephs1 17 33 32
  • 89.8 (n)
chicken
(Gallus gallus)
Aves SEPHS1 33 32
  • 82.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SEPHS1 33
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sephs1 32
  • 80.53 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68922 32
zebrafish
(Danio rerio)
Actinopterygii sephs1 33 32
  • 79 (n)
OneToOne
wufc49b09 32
fruit fly
(Drosophila melanogaster)
Insecta SelD 33 32
  • 67.66 (n)
ManyToMany
Sps2 33
  • 43 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007967 32
  • 67.03 (n)
worm
(Caenorhabditis elegans)
Secernentea seld-1 33 32
  • 55.98 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8569 33
  • 57 (a)
OneToMany
Species where no ortholog for SEPHS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SEPHS1 Gene

ENSEMBL:
Gene Tree for SEPHS1 (if available)
TreeFam:
Gene Tree for SEPHS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SEPHS1: view image

Paralogs for SEPHS1 Gene

Paralogs for SEPHS1 Gene

(1) SIMAP similar genes for SEPHS1 Gene using alignment to 3 proteins:

  • SPS1_HUMAN
  • Q5T5U6_HUMAN
  • Q5T5U7_HUMAN
genes like me logo Genes that share paralogs with SEPHS1: view

Variants for SEPHS1 Gene

Sequence variations from dbSNP and Humsavar for SEPHS1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000055556 -- 13,322,085(-) G/A/C intron_variant
rs1000130285 -- 13,329,605(-) A/G intron_variant
rs1000145574 -- 13,338,161(-) G/A intron_variant
rs1000281568 -- 13,324,089(-) C/A intron_variant
rs1000352831 -- 13,343,757(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SEPHS1 Gene

Variant ID Type Subtype PubMed ID
dgv127n67 CNV gain 20364138
esv1010238 CNV deletion 20482838
esv2733373 CNV deletion 23290073
esv2733384 CNV deletion 23290073
esv3578645 CNV loss 25503493
nsv1068281 CNV deletion 25765185
nsv1143493 CNV deletion 24896259
nsv831788 CNV loss 17160897
nsv947742 CNV duplication 23825009
nsv951251 CNV deletion 24416366

Variation tolerance for SEPHS1 Gene

Residual Variation Intolerance Score: 16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SEPHS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SEPHS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPHS1 Gene

Disorders for SEPHS1 Gene

Additional Disease Information for SEPHS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SEPHS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SEPHS1 Gene

Publications for SEPHS1 Gene

  1. Cloning and functional characterization of human selenophosphate synthetase, an essential component of selenoprotein synthesis. (PMID: 7665581) Low SC … Berry MJ (The Journal of biological chemistry 1995) 2 3 4 23 56
  2. Human selenophosphate synthetase 1 has five splice variants with unique interactions, subcellular localizations and expression patterns. (PMID: 20471958) Kim JY … Lee BJ (Biochemical and biophysical research communications 2010) 3 4 56
  3. Crystal structures of catalytic intermediates of human selenophosphate synthetase 1. (PMID: 19477186) Wang KT … Su XD (Journal of molecular biology 2009) 4 23 56
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 43 56
  5. p53-Mediated enhancement of radiosensitivity by selenophosphate synthetase 1 overexpression. (PMID: 16786570) Chung HJ … Bae S (Journal of cellular physiology 2006) 3 23 56

Products for SEPHS1 Gene

Sources for SEPHS1 Gene