Aliases for SEPHS1 Gene
Aliases for SEPHS1 Gene
External Ids for SEPHS1 Gene
- HGNC: 19685
- Entrez Gene: 22929
- Ensembl: ENSG00000086475
- OMIM: 600902
- UniProtKB: P49903
Previous GeneCards Identifiers for SEPHS1 Gene
- GC10M013364
- GC10M013400
- GC10M013272
- GC10M013360
Summaries 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 for SEPHS1 Gene
-
Synthesizes selenophosphate from selenide and ATP.
Additional gene information for SEPHS1 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around SEPHS1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SEPHS1 Gene
Genomic Locations for SEPHS1 Gene
- chr10:13,317,424-13,348,298
- (GRCh38/hg38)
- Size:
- 30,875 bases
- Orientation:
- Minus strand
- chr10:13,359,424-13,390,298
- (GRCh37/hg19)
Genomic View for SEPHS1 Gene
Genes around SEPHS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p13 by Ensembl
- 10p13 by Entrez Gene
- 10p13 by HGNC
SEPHS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
Other Protein References for SEPHS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SEPHS1
-
Abcam antibodies for SEPHS1
- Invitrogen Antibodies for SEPHS1
- GeneTex SEPHS1 antibody for SEPHS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SEPHS1
Protein Products
-
OriGene Purified Proteins for SEPHS1
- Search Origene for MassSpec and Protein Over-expression Lysates for SEPHS1
- Origene Custom Protein Services for SEPHS1
- Search GeneTex for Proteins for SEPHS1
-
ProSci Proteins for SEPHS1
-
Abcam proteins for SEPHS1
Assay Products
Domains & Families for SEPHS1 Gene
Gene Families for SEPHS1 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SEPHS1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SEPHS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P49903UniProtKB/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.
Function for SEPHS1 Gene
Molecular function for SEPHS1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + selenide + H(2)O = AMP + selenophosphate + phosphate.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activated by phosphate ions and by potassium ions.
- UniProtKB/Swiss-Prot Function:
- Synthesizes selenophosphate from selenide and ATP.
Enzyme Numbers (IUBMB) for SEPHS1 Gene
Phenotypes From GWAS Catalog for SEPHS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004756 | selenide, water dikinase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 21516116 |
| GO:0005524 | ATP binding | IEA,TAS | -- |
| GO:0005525 | GTP binding | TAS | 7665581 |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for SEPHS1 Gene
- GenomeRNAi human phenotypes for SEPHS1:
Animal Model Products
-
Taconic Biosciences Mouse Models for SEPHS1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SEPHS1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SEPHS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SEPHS1 gene
- Search ViGene Biosciences for SEPHS1
CRISPR Products
-
OriGene CRISPR knockouts for SEPHS1
- genomics-online: gRNA clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
- Applied Biological Materials CRISPR for SEPHS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEPHS1
- GenScript: Design CRISPR guide RNA sequences for SEPHS1
miRNA for SEPHS1 Gene
- miRTarBase miRNAs that target SEPHS1
-
- hsa-mir-193b-3p (MIRT016476)
- hsa-mir-615-3p (MIRT040065)
- hsa-mir-484 (MIRT041988)
- hsa-mir-221-3p (MIRT046882)
- hsa-mir-887-5p (MIRT261943)
- hsa-mir-4446-5p (MIRT261965)
- hsa-mir-218-5p (MIRT439679)
- hsa-mir-6885-3p (MIRT444088)
- hsa-mir-8081 (MIRT444089)
- hsa-mir-1273e (MIRT444090)
- hsa-mir-653-5p (MIRT444091)
- hsa-mir-627-5p (MIRT444092)
- hsa-mir-937-5p (MIRT444093)
- hsa-mir-6864-3p (MIRT444094)
- hsa-mir-3672 (MIRT444095)
- hsa-mir-924 (MIRT444096)
- hsa-mir-873-3p (MIRT444097)
- hsa-mir-6513-5p (MIRT541049)
- hsa-mir-3913-5p (MIRT541050)
- hsa-mir-3122 (MIRT541051)
- hsa-mir-450a-1-3p (MIRT541052)
- hsa-mir-7977 (MIRT541053)
- hsa-mir-24-3p (MIRT541054)
- hsa-mir-4284 (MIRT541055)
- hsa-mir-4679 (MIRT541056)
- hsa-mir-342-3p (MIRT541057)
- hsa-mir-383-3p (MIRT541058)
- hsa-mir-1228-3p (MIRT541059)
- hsa-mir-4659b-5p (MIRT565766)
- hsa-mir-4659a-5p (MIRT565767)
- hsa-mir-3924 (MIRT565768)
- hsa-mir-4666a-5p (MIRT565769)
- hsa-mir-8068 (MIRT565770)
- hsa-mir-5087 (MIRT565771)
- hsa-mir-1227-3p (MIRT565772)
- hsa-mir-657 (MIRT565773)
- hsa-mir-3665 (MIRT565774)
- hsa-mir-455-5p (MIRT565775)
- hsa-mir-4748 (MIRT565776)
- hsa-mir-5580-3p (MIRT565777)
- hsa-mir-4464 (MIRT565778)
- hsa-mir-665 (MIRT699744)
- hsa-mir-4484 (MIRT699745)
- hsa-mir-6765-5p (MIRT699746)
- hsa-mir-6771-5p (MIRT699747)
- hsa-mir-653-3p (MIRT699748)
- hsa-mir-6878-5p (MIRT699749)
- hsa-mir-7160-5p (MIRT699750)
- hsa-mir-6884-5p (MIRT699751)
- hsa-mir-6087 (MIRT699752)
- hsa-mir-485-5p (MIRT699753)
- hsa-mir-3197 (MIRT699754)
- hsa-mir-4649-3p (MIRT699755)
- hsa-mir-6746-5p (MIRT699756)
- hsa-mir-5690 (MIRT699757)
- hsa-mir-4478 (MIRT699758)
- hsa-mir-4419b (MIRT699759)
- hsa-mir-3929 (MIRT699760)
- hsa-mir-34b-3p (MIRT699761)
- hsa-mir-1273g-3p (MIRT736827)
- hsa-mir-3064-5p (MIRT739699)
- hsa-mir-3976 (MIRT743219)
- hsa-mir-4793-3p (MIRT748940)
- hsa-mir-508-5p (MIRT749621)
- hsa-mir-6504-5p (MIRT752936)
- hsa-mir-6512-3p (MIRT753232)
- hsa-mir-6720-5p (MIRT753764)
- hsa-mir-6758-5p (MIRT754889)
- hsa-mir-6849-3p (MIRT757550)
- hsa-mir-6856-5p (MIRT757735)
- hsa-mir-766-3p (MIRT759619)
- hsa-mir-7703 (MIRT759719)
- hsa-mir-4485-5p (MIRT769618)
miRNA Products
- Search ViGene Biosciences for SEPHS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SEPHS1
- Browse OriGene Inhibitory RNA Products For SEPHS1
- genomics-online: shRNA clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SEPHS1 gene
Clone Products
-
OriGene ORF clones in human for SEPHS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPHS1
- VectorBuilder custom plasmid, inducible vectors for SEPHS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPHS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SEPHS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SEPHS1
-
ViGene Biosciences adenoviral particle packaged cDNA for SEPHS1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SEPHS1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SEPHS1 gene
No data available for Human Phenotype Ontology , Animal Models , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 3 |
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0031965 | nuclear membrane | IEA | -- |
Pathways & Interactions for SEPHS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism | ||
| 2 | Selenocompound metabolism | ||
| 3 | Selenium Metabolism and Selenoproteins | ||
Pathways by source for SEPHS1 Gene
1 BioSystems pathway for SEPHS1 Gene
2 KEGG pathways for SEPHS1 Gene
Interacting Proteins for SEPHS1 Gene
Selected Interacting proteins:
P49903-SPS1_HUMAN
ENSP00000367893
for SEPHS1 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006464 | cellular protein modification process | TAS | 7665581 |
| GO:0016260 | selenocysteine biosynthetic process | IEA | -- |
| GO:0016310 | phosphorylation | IEA | -- |
No data available for SIGNOR curated interactions for SEPHS1 Gene
Drugs & Compounds for SEPHS1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Selenophosphate |
|
289702-60-9 | ||||
| Hydrogen selenide |
|
|
||||
| Phosphate |
|
14265-44-2 |
|
|||
| Phosphoroselenoic acid |
|
25758-66-1 |
|
Transcripts for SEPHS1 Gene
mRNA/cDNA for SEPHS1 Gene
- (7) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (377) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SEPHS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SEPHS1
- genomics-online: gRNA clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
- Applied Biological Materials CRISPR for SEPHS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEPHS1
- GenScript: Design CRISPR guide RNA sequences for SEPHS1
miRNA Products
- Search ViGene Biosciences for SEPHS1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SEPHS1
- Browse OriGene Inhibitory RNA Products For SEPHS1
- genomics-online: shRNA clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SEPHS1 gene
Clone Products
-
OriGene ORF clones in human for SEPHS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPHS1
- VectorBuilder custom plasmid, inducible vectors for SEPHS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPHS1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for SEPHS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||
| SP5: | - |
Expression for SEPHS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
-
Ovary (Reproductive System)
This gene is overexpressed in Salivary gland (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SEPHS1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SEPHS1 Gene:
SEPHS1SOURCE GeneReport for Unigene cluster for SEPHS1 Gene:
Hs.124027mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for SEPHS1
-
OriGene qPCR primer pairs and template standards for SEPHS1
- genomics-online: primer clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SEPHS1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SEPHS1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SEPHS1 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Sephs1 33 |
|
||
| dog (Canis familiaris) |
Mammalia | SEPHS1 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SEPHS1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Sephs1 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | SEPHS1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SEPHS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sephs1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68922 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sephs1 33 34 |
|
||
| wufc49b09 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | SelD 33 34 |
|
||
| Sps2 34 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007967 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | seld-1 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.8569 34 |
|
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)
Paralogs for SEPHS1 Gene
(1) SIMAP similar genes for SEPHS1 Gene using alignment to 3 proteins:
Pseudogenes.org Pseudogenes for SEPHS1 Gene
Variants 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
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
- 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 22 58
- 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 58
- Crystal structures of catalytic intermediates of human selenophosphate synthetase 1. (PMID: 19477186) Wang KT … Su XD (Journal of molecular biology 2009) 4 22 58
- 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 44 58
- p53-Mediated enhancement of radiosensitivity by selenophosphate synthetase 1 overexpression. (PMID: 16786570) Chung HJ … Bae S (Journal of cellular physiology 2006) 3 22 58
Products for SEPHS1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SEPHS1
- Search Origene for MassSpec and Protein Over-expression Lysates for SEPHS1
- Origene Custom Protein Services for SEPHS1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEPHS1
- Browse OriGene Inhibitory RNA Products For SEPHS1
- OriGene qPCR primer pairs and template standards for SEPHS1
- OriGene qPCR primer pairs for SEPHS1
- OriGene CRISPR knockouts for SEPHS1
- OriGene ORF clones in human for SEPHS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SEPHS1
- GenScript: Next-day shipping of latest version cDNA ORF clones for SEPHS1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for SEPHS1
- GenScript Custom Assay Services for SEPHS1
- GenScript Custom overexpressing Cell Line Services for SEPHS1
- GenScript: Design CRISPR guide RNA sequences for SEPHS1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SEPHS1
- Sino Biological Human cDNA Clone for SEPHS1
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SEPHS1
- Novus Biologicals lysates and proteins for SEPHS1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SEPHS1
- Abcam proteins for SEPHS1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Taconic Biosciences Mouse Models for SEPHS1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SEPHS1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SEPHS1
- VectorBuilder custom plasmid, inducible vectors for SEPHS1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SEPHS1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 34 available SEPHS1 Antibodies ranked by validation data
- Compare Top SEPHS1 Antibodies
- antibodies-online: Search results for available SEPHS1 related products ranked by validation data
- antibodies-online: Search results for 12 available SEPHS1 Proteins ranked by validation data
- Compare Top SEPHS1 Proteins
- GeneTex SEPHS1 antibody for SEPHS1
- Search GeneTex for Proteins for SEPHS1
- ViGene Biosciences adenoviral particle packaged cDNA for SEPHS1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SEPHS1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SEPHS1 gene
- Search ViGene Biosciences for SEPHS1
- Santa Cruz Biotechnology (SCBT) Antibodies for SEPHS1
- Search Santa Cruz Biotechnology (SCBT) for SEPHS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SEPHS1
- Search for SEPHS1 Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for SEPHS1
- Horizon Cell Lines for SEPHS1
- genomics-online: cdna clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
- orf clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
- genomics-online: gRNA clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
- genomics-online: primer clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
- genomics-online: shRNA clones - Search results for 126 available SEPHS1 gene related products
- Overview of 126 available SEPHS1 gene related products
Sources for SEPHS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
