Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for SEPHS1 Gene
- HGNC: 19685
- NCBI Entrez Gene: 22929
- Ensembl: ENSG00000086475
- OMIM®: 600902
- UniProtKB/Swiss-Prot: 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. Diseases associated with SEPHS1 include Ivic Syndrome and Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension. Among its related pathways are Metabolism and Selenocompound 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
-
Synthesizes selenophosphate from selenide and ATP.
Additional gene information for SEPHS1 Gene
- HGNC (19685)
- NCBI Entrez Gene (22929)
- Ensembl (ENSG00000086475)
- OMIM® (600902)
- UniProtKB/Swiss-Prot (P49903)
- Open Targets Platform(ENSG00000086475)
- Search for SEPHS1 at DataMed
- Search for SEPHS1 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SEPHS1
- 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
Latest Assembly
- chr10:13,317,428-13,348,298
- (GRCh38/hg38)
- Size:
- 30,871 bases
- Orientation:
- Minus strand
Previous Assembly
- chr10:13,359,428-13,390,293
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 30,866 bases
- Orientation:
- Minus strand
- chr10:13,359,424-13,390,297
- (GRCh37/hg19 by Ensembl)
- Size:
- 30,874 bases
- Orientation:
- Minus strand
Genomic View for SEPHS1 Gene
Genes around SEPHS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p13 by HGNC
- 10p13 by Entrez Gene
- 10p13 by Ensembl
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
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
-
- [Isoform 1]: Homodimer (PubMed:20471958, PubMed:19477186). Heterodimer with isoform 3 (PubMed:20471958).
- [Isoform 2]: Homodimer (PubMed:20471958). Heterodimer with isoform 4 (PubMed:20471958).
- [Isoform 3]: Homodimer (PubMed:20471958). Heterodimer with isoform 1 (PubMed:20471958).
- [Isoform 4]: Homodimer (PubMed:20471958). Heterodimer with isoform 2 (PubMed:20471958).
- SequenceCaution:
-
- Sequence=AAA87567.1; Type=Frameshift; 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:
Antibodies for research
- Novus Biologicals Antibodies for SEPHS1
-
Abcam antibodies for SEPHS1
- Invitrogen Antibodies for SEPHS1 (AFLGC-SEPHS1)
-
Boster Bio Antibodies for SEPHS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SEPHS1
Protein products for research
- G Biosciences Human Selenophosphate synthase 1/SEPHS1, Liquid
-
OriGene Purified Proteins for SEPHS1
- Search Origene for MassSpec and Protein Over-expression Lysates for SEPHS1
- Origene Custom Protein Services for SEPHS1
-
ProSci Proteins for SEPHS1
-
Abcam proteins for SEPHS1
Assay products for research
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:
-
- AIR synthase related protein
- AIR synthase related protein, C-terminal
- ProtoNet:
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
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 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; Evidence={ECO:0000269|PubMed:7665581};.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0004756 | selenide, water dikinase activity | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 21516116 |
| GO:0005524 | ATP binding | TAS,IEA | -- |
| GO:0005525 | GTP binding | TAS | 7665581 |
Phenotypes for SEPHS1 Gene
- MGI mutant phenotypes for SEPHS1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SEPHS1:
Animal Models for SEPHS1 Gene
- MGI Knock Outs for SEPHS1:
-
- Sephs1 Sephs1<tm1.2Dhat>
Animal Models for research
-
Taconic Biosciences Mouse Models for SEPHS1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SEPHS1 - Starting at $85 >
- * SEPHS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SEPHS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPHS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEPHS1
miRNA for SEPHS1 Gene
- miRTarBase miRNAs that target SEPHS1
-
- mmu-miR-301b-3p (MIRT007717)
- mmu-miR-34b-5p (MIRT012674)
- 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 for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEPHS1
- Browse OriGene Inhibitory RNA Products For SEPHS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPHS1
Clone products for research
- Applied Biological Materials (abm): Clones for SEPHS1 - Starting at $45 >
- * SEPHS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206112
- MR206112
- MR206112L3
- MR206112L4
- RC209406
- RC209406L3
- RC209406L4
- RC231162
- RC231162L3
- RC231162L4
- RC231163
- RC231163L3
- RC231163L4
- RG209406
- RG231162
- RG231163
- RR206225
- RR206225L3
- RR206225L4
- MR206112L3V
- MR206112L4V
- RC209406L3V
- RC209406L4V
- RC231162L3V
- RC231162L4V
- RC231163L3V
- RC231163L4V
- RR206225L3V
- RR206225L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPHS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPHS1
Cell Lines for research
-
Horizon Cell Lines for SEPHS1
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. Peripheral membrane protein. Nucleus membrane. Peripheral membrane protein.
- [Isoform 2]: Cytoplasm.
- [Isoform 3]: Cytoplasm.
- [Isoform 4]: Cytoplasm.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 3 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (1)
| 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 | -- |
Pathways & Interactions for SEPHS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism | ||
| 2 | Selenocompound metabolism | ||
Pathways by source 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
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SEPHS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006464 | cellular protein modification process | TAS | 7665581 |
| GO:0016260 | selenocysteine biosynthetic process | IBA | 21873635 |
| 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 | |
|---|---|---|---|---|---|---|
| Hydrogen selenide |
|
7783-07-5 |
|
|||
| Phosphoroselenoic acid |
|
25758-66-1 |
|
Drug products for research
- G Biosciences Human Selenophosphate synthase 1/SEPHS1, Liquid
Transcripts for SEPHS1 Gene
mRNA/cDNA for SEPHS1 Gene
- 5 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000327347 3265 nts (view in UCSC)
- ENST00000378614 2387 nts (view in UCSC)
- ENST00000413411 660 nts (view in UCSC)
- ENST00000425947 383 nts (view in UCSC)
- ENST00000494329 796 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SEPHS1 - Starting at $85 >
- * SEPHS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SEPHS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPHS1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SEPHS1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SEPHS1
- Browse OriGene Inhibitory RNA Products For SEPHS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPHS1
Clone products for research
- Applied Biological Materials (abm): Clones for SEPHS1 - Starting at $45 >
- * SEPHS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG206112
- MR206112
- MR206112L3
- MR206112L4
- RC209406
- RC209406L3
- RC209406L4
- RC231162
- RC231162L3
- RC231162L4
- RC231163
- RC231163L3
- RC231163L4
- RG209406
- RG231162
- RG231163
- RR206225
- RR206225L3
- RR206225L4
- MR206112L3V
- MR206112L4V
- RC209406L3V
- RC209406L4V
- RC231162L3V
- RC231162L4V
- RC231163L3V
- RC231163L4V
- RR206225L3V
- RR206225L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SEPHS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPHS1
| 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
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, MaxQB, and MOPED for SEPHS1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SEPHS1
SOURCE GeneReport for Unigene cluster for SEPHS1 Gene:
Hs.124027mRNA Expression by UniProt/SwissProt for SEPHS1 Gene:
P49903-SPS1_HUMAN
Tissue specificity:
[Isoform 1]: Gradually expressed during the cell cycle until G2/M phase and then decreases.
Evidence on tissue expression from TISSUES for SEPHS1 Gene
- Nervous system(4.6)
- Liver(4.4)
- Thyroid gland(2.1)
- Kidney(2)
Primer products for research
-
OriGene qPCR primer pairs for SEPHS1
-
OriGene qPCR primer pairs and template standards for SEPHS1
Gene Expression Assays for research
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 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SEPHS1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SEPHS1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Sephs1 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | SEPHS1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SEPHS1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Sephs1 30 17 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SEPHS1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SEPHS1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sephs1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68922 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | sephs1 30 31 |
|
OneToOne | |
| wufc49b09 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | SelD 30 31 |
|
ManyToMany | |
| Sps2 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007967 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | seld-1 30 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.8569 31 |
|
OneToMany |
- Species where no ortholog for SEPHS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
(1) SIMAP similar genes for SEPHS1 Gene using alignment to 3 proteins:
- SPS1_HUMAN
- Q5T5U6_HUMAN
- Q5T5U7_HUMAN
Pseudogenes.org Pseudogenes for SEPHS1 Gene
Variants for SEPHS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SEPHS1 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs117211901 | Benign: not provided | 13,344,754(-) |
C/T NM_012247.5(SEPHS1):c.193+4G>A |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SEPHS1 Gene
Disorders for SEPHS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ivic syndrome |
|
|
| ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension |
|
|
Search SEPHS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SEPHS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for 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 23
- 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
- Crystal structures of catalytic intermediates of human selenophosphate synthetase 1. (PMID: 19477186) Wang KT … Su XD (Journal of molecular biology 2009) 4 23
- p53-Mediated enhancement of radiosensitivity by selenophosphate synthetase 1 overexpression. (PMID: 16786570) Chung HJ … Bae S (Journal of cellular physiology 2006) 3 23
- 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 41
ExternalLinks
Products for SEPHS1 Gene
- 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 for SEPHS1
- OriGene qPCR primer pairs and template standards for SEPHS1
- OriGene CRISPR knockouts for SEPHS1
- MG206112
- MR206112
- MR206112L3
- MR206112L4
- RC209406
- RC209406L3
- RC209406L4
- RC231162
- RC231162L3
- RC231162L4
- RC231163
- RC231163L3
- RC231163L4
- RG209406
- RG231162
- RG231163
- RR206225
- RR206225L3
- RR206225L4
- MR206112L3V
- MR206112L4V
- RC209406L3V
- RC209406L4V
- RC231162L3V
- RC231162L4V
- RC231163L3V
- RC231163L4V
- RR206225L3V
- RR206225L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SEPHS1
- Sino Biological Human cDNA Clone for SEPHS1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SEPHS1
- Novus Biologicals proteins and lysates for SEPHS1
- 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
- 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 (AFLGC-SEPHS1)
- VectorBuilder Custom and pre-made DNA vectors for SEPHS1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SEPHS1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SEPHS1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SEPHS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SEPHS1
- antibodies-online: Show 12 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: Show 12 available SEPHS1 Proteins ranked by validation data
- Compare Top SEPHS1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SEPHS1
- Search Santa Cruz Biotechnology (SCBT) for SEPHS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SEPHS1
- Custom Antibody ServicesProSci Antibodies for SEPHS1
- ProSci Proteins for SEPHS1
- Horizon Cell Lines for SEPHS1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SEPHS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SEPHS1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SEPHS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SEPHS1
- Boster Bio Antibodies for SEPHS1
- Browse Boster Bio ELISA Kits
Sources for SEPHS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB