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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SEPHS1 Gene

protein-coding   GIFtS: 59
GCID: GC10M013360

Selenophosphate Synthetase 1

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Selenophosphate Synthetase 11 2     Selenide, Water Dikinase 12
Selenium Donor Protein 12 3     Selenophosphate Synthetase 1 +E92
Selenophosphate Synthase 12 3     Selenophosphate Synthetase 1 +E9a2
SELD2 3     Selenophosphate Synthetase 1 Delta E22
SPS2 3     Selenophosphate Synthetase 1 Delta E82
SPS12 3     Selenophosphate Synthetase 1 Major2
EC 2.7.9.33 8     

External Ids:    HGNC: 196851   Entrez Gene: 229292   Ensembl: ENSG000000864757   OMIM: 6009025   UniProtKB: P499033   

Export aliases for SEPHS1 gene to outside databases

Previous GC identifers: GC10M013364 GC10M013400 GC10M013272


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Diseases associated with SEPHS1 include vaccinia, and lung adenocarcinoma, and among its related super-pathways are Metabolism. GO annotations related to this gene include selenide, water dikinase activity and GTP binding. An important paralog of this gene is SEPHS2.

UniProtKB/Swiss-Prot: SPS1_HUMAN, P49903
Function: Synthesizes selenophosphate from selenide and ATP

Gene Wiki entry for SEPHS1 (Selenophosphate synthetase 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPHS1 gene promoter:
         STAT5B   p53   STAT4   STAT1beta   STAT5A   STAT1alpha   E47   c-Ets-1   STAT2   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SEPHS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SEPHS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p14   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p14

SEPHS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SEPHS1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M013360:  view genomic region     (about GC identifiers)

Start:
13,359,424 bp from pter      End:
13,390,298 bp from pter
Size:
30,875 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPS1_HUMAN, P49903 (See protein sequence)
Recommended Name: Selenide, water dikinase 1  
Size: 392 amino acids; 42911 Da
Subunit: Homodimer (isoform 1, isoform 2, isoform 3 and isoform 4). Heterodimer of isoform 1 and isoform 3.
Heterodimer of isoform 2 and isoform 4
Subcellular location: Isoform 1: Cell membrane. Nucleus membrane
Subcellular location: Isoform 2: Cytoplasm
Subcellular location: Isoform 3: Cytoplasm
Subcellular location: Isoform 4: Cytoplasm
Caution: The conserved active site Cys (or selenocysteine) residue in position 29 is replaced by a Thr. However,
as function in selenoprotein synthesis is proven, it is possible Cys-31 is the active site
Sequence caution: Sequence=AAA87567.1; Type=Frameshift; Positions=377;
2 PDB 3D structures from and Proteopedia for SEPHS1:
3FD5 (3D)        3FD6 (3D)    
Secondary accessions: B4DWK0 D3DRS9 D6PSQ9 Q5T5U8 Q5T5U9 Q9BVT4
Alternative splicing: 4 isoforms:  P49903-1   P49903-2   P49903-3   P49903-4   

Explore the universe of human proteins at neXtProt for SEPHS1: NX_P49903

Explore proteomics data for SEPHS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49903

  • 4/19 DME Specific Peptides for SEPHS1 (P49903) (see all 19)
     VTGGQTV  PIVDDPY  KACGNMF  RESFNPE 

    SEPHS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SEPHS1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001182531.1  NP_001182533.1  NP_036379.2  

    ENSEMBL proteins: 
     ENSP00000367893   ENSP00000367877   ENSP00000401732   ENSP00000400418   ENSP00000442768  
     ENSP00000441119  

    Human Recombinant Protein Products for SEPHS1: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SEPHS1 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0031965nuclear membrane IEA--

    SEPHS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR016188 PurM_N-like
     IPR000728 AIR_synth_N_dom
     IPR010918 AIR_synth_C_dom
     IPR004536 SelD

    Graphical View of Domain Structure for InterPro Entry P49903

    ProtoNet protein and cluster: P49903

    2 Blocks protein domains:
    IPB000728 AIR synthase related protein
    IPB010918 AIR synthase related protein


    UniProtKB/Swiss-Prot: SPS1_HUMAN, P49903
    Similarity: Belongs to the selenophosphate synthase 1 family. Class II subfamily


    SEPHS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPS1_HUMAN, P49903
    Function: Synthesizes selenophosphate from selenide and ATP
    Catalytic activity: ATP + selenide + H(2)O = AMP + selenophosphate + phosphate
    Enzyme regulation: Activated by phosphate ions and by potassium ions

         Enzyme Number (IUBMB): EC 2.7.9.31 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004756selenide, water dikinase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0005525GTP binding TAS7665581
         
    SEPHS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Sephs1 (no phenotypes)

    SEPHS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SEPHS1 
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    SwitchGear 3'UTR luciferase reporter plasmidSEPHS1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SEPHS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SEPHS1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Selenocompound metabolism
    Selenocompound metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2         Kegg Pathways  (Kegg details for SEPHS1):
        Selenocompound metabolism
    Metabolic pathways


    SEPHS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SEPHS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/26 Interacting proteins for SEPHS1 (P499033 ENSP000003678934) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF1BO607393, ENSP000002329054I2D: score=1 STRING: ENSP00000232905
    TNFRSF10DQ9UBN63, ENSP000003102634I2D: score=1 STRING: ENSP00000310263
    C9orf9Q96E403, ENSP000002985464I2D: score=4 STRING: ENSP00000298546
    C14orf1Q9UKR53I2D: score=4 
    GBP2P324563I2D: score=4 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process TAS7665581

    SEPHS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SEPHS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SEPHS1 (SPS1)

    8 HMDB Compounds for SEPHS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Hydrogen selenideDihydrogen monoselenide (see all 7)----
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Phosphoroselenoic acidMonoselenophosphoric acid (see all 5)25758-66-1--
    Seleniumselenium (see all 5)7782-49-2--
    SelenophosphatePhosphorus selenide (PSe) (see all 4)289702-60-9--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 Novoseek inferred chemical compound relationships for SEPHS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    selenophosphate 99.1 98 9398525 (3), 15354357 (3), 19477186 (3), 15653770 (3) (see all 37)
    selenocysteine 91.5 24 8986768 (2), 15534230 (2), 16086848 (2), 17346238 (2) (see all 10)
    selenium 84 72 15653770 (6), 8829132 (3), 7665581 (3), 17346238 (3) (see all 27)
    selenite 64.6 7 15534230 (3), 17142313 (1), 9363997 (1)
    atp 48.3 22 9169026 (2), 7665581 (2), 8144648 (1), 15534230 (1) (see all 13)
    cysteine 41.4 1 17054778 (1)
    formate 39.4 2 15534230 (1), 17054778 (1)
    serine 7.68 2 17194211 (1), 17916946 (1)

    Search CenterWatch for drugs/clinical trials and news about SEPHS1 / SPS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SEPHS1 gene (3 alternative transcripts): 
    NM_001195602.1  NM_001195604.1  NM_012247.4  

    Unigene Cluster for SEPHS1:

    Selenophosphate synthetase 1
    Hs.124027  [show with all ESTs]
    Unigene Representative Sequence: NM_012247
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000327347(uc001imh.3 uc010qbs.2 uc001imk.3 uc010qbt.2 uc021pnc.1 uc021pnd.1 uc009xje.3)
    ENST00000378614 ENST00000413411 ENST00000425947 ENST00000494329 ENST00000537130
    ENST00000545675
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSEPHS1 3' UTR sequence
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    Additional mRNA sequence: 

    AK125066.1 AK297129.1 AK301568.1 AK309829.1 BC000941.1 BC063816.1 BC064610.1 GU954545.1 
    GU954546.1 GU954547.1 GU954548.1 GU954549.1 

    14 DOTS entries:

    DT.449406  DT.101984613  DT.101968157  DT.100813791  DT.97860376  DT.100695261  DT.95291291  DT.121230762 
    DT.99931623  DT.100813788  DT.121230748  DT.95349843  DT.121290122  DT.92035413 

    24/377 AceView cDNA sequences (see all 377):

    BU731454 AA709436 BF515248 AA744686 BU628656 CR616353 BF431463 BM918189 
    AI890744 D17231 BC063816 BM995591 T18857 AA306139 AA424248 BF435163 
    CD243578 BQ024302 AI264906 CR604492 NM_012247 AI352684 BE302274 CR626255 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SEPHS1    About this scheme

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


    ECgene alternative splicing isoforms for SEPHS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SEPHS1 expression in normal human tissues (normalized intensities)      SEPHS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGCAGTA
    SEPHS1 Expression
    About this image


    SEPHS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             CyT49
             ESI-035   
     
     Breast (Uncategorized)
             breast epithelium   
     
     Epithelium
             breast epithelium   
     
     Ovary (Reproductive System)

    See SEPHS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SEPHS1

    SOURCE GeneReport for Unigene cluster: Hs.124027

    UniProtKB/Swiss-Prot: SPS1_HUMAN, P49903
    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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SEPHS1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sephs11 , 5 selenophosphate synthetase 11, 5 89.8(n)1
    99.49(a)1
      2 (3.02 cM)5
    1090791  NM_175400.61  NP_780609.41 
     48815645 
    chicken
    (Gallus gallus)
    Aves SEPHS11 selenophosphate synthetase 1 82.06(n)
    99.49(a)
      426612  NM_001164084.1  NP_001157556.1 
    lizard
    (Anolis carolinensis)
    Reptilia SEPHS16
    Uncharacterized protein
    98(a)
    1 ↔ 1
    5(90032611-90053947)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC689222 hypothetical protein MGC68922 80.53(n)    BC057731.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc49b092 wufc49b09 79.4(n)   324947  BC045302.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SelD1 Selenide,water dikinase 67.66(n)
    72.9(a)
      36587  NM_166045.1  NP_725374.1 
    worm
    (Caenorhabditis elegans)
    Secernentea seld-16
    Probable selenide, water dikinase
    49(a)
    1 → many
    IV(13506079-13509215)


    ENSEMBL Gene Tree for SEPHS1 (if available)
    TreeFam Gene Tree for SEPHS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SEPHS1 gene
    SEPHS22  
    1 SIMAP similar gene for SEPHS1 using alignment to 3 protein entries:     SPS1_HUMAN (see all proteins):
    SEPHS2

    SEPHS1 for paralogs           About GeneDecksing


    5/10 Pseudogenes.org Pseudogenes for SEPHS1 (see all 10)
    PGOHUM00000246933 PGOHUM00000248825 PGOHUM00000240268 PGOHUM00000241057 PGOHUM00000260030


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/770 SNPs in SEPHS1 are shown (see all 770)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22536171,2
    C--13358961(-) ATAGAG/AGTTGC 3 -- int113Minor allele frequency- A:0.00NA WA CSA EA 375
    rs22536191,2
    C,F--13358988(-) GGCACG/AAGAAT 3 -- int113Minor allele frequency- A:0.07NA WA CSA EA 375
    rs1465533021,2
    --13359130(+) CACCTC/TGGCCT 3 -- int10--------
    rs1411797791,2
    C--13359228(+) TTACAC/TGGACC 3 -- int10--------
    rs1889330301,2
    --13359358(+) TCTCAC/TGGCAC 3 -- int10--------
    rs727813921,2
    C,F--13359359(+) CTCACG/AGCACA 3 -- int11Minor allele frequency- A:0.08NA 120
    rs1498068691,2
    --13359367(+) ACAGGA/CTACAC 3 -- int10--------
    rs563115191,2
    C--13359371(+) GCTACA/GCTGAA 3 -- int10--------
    rs1923697131,2
    --13359449(+) TTTCCA/GACACA 3 -- ut310--------
    rs1457494071,2
    --13359499(+) CAACAC/TCTCTA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SEPHS1 (13359424 - 13390298 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SEPHS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1010238CNV Deletion20482838
    esv2733373CNV Deletion23290073
    esv2733384CNV Deletion23290073
    nsv831788CNV Loss17160897
    dgv127n67CNV Gain20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600902    OMIM disorders: --

    9 diseases for SEPHS1:    About MalaCards
    vaccinia    lung adenocarcinoma    schizophrenia    adenocarcinoma
    colon cancer    alzheimer's disease    endotheliitis    prostate cancer
    prostatitis


    SEPHS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for SEPHS1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenocarcinoma lung 35.1 2 15534230 (2)
    schizophrenia 0 5 7739414 (3), 8218612 (1)

    Genetic Association Database (GAD): SEPHS1
    Human Genome Epidemiology (HuGE) Navigator: SEPHS1 (1 document)

    Export disorders for SEPHS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SEPHS1 gene, integrated from 9 sources (see all 70):
    (articles sorted by number of sources associating them with SEPHS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional characterization of human selenophosphate synthetase, an essential component of selenoprotein synthesis. (PubMed id 7665581)1, 2, 3, 9 Low S.C.... Berry M.J. (1995)
    2. Human selenophosphate synthetase 1 has five splice va riants with unique interactions, subcellular localizations and expression patte rns. (PubMed id 20471958)1, 2 Kim J.Y....Lee B.J. (2010)
    3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Selenophosphate synthetase genes from lung adenocarcinoma cells: Sps1 for recycling L-selenocysteine and Sps2 for selenite assimilation. (PubMed id 15534230)1, 9 Tamura T....Inagaki K. (2004)
    6. Crystal structures of catalytic intermediates of huma n selenophosphate synthetase 1. (PubMed id 19477186)2, 9 Wang K.T....Su X.D. (2009)
    7. p53-Mediated enhancement of radiosensitivity by selenophosphate synthetase 1 overexpression. (PubMed id 16786570)1, 9 Chung H.J....Bae S. (2006)
    8. Loci associated with N-glycosylation of human immunogl obulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (2013)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. Selenium, selenoprotein genes and Crohn's disease in a case-control population from Auckland, New Zealand. (PubMed id 23112913)1 Gentschew L....Ferguson L.R. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 22929 HGNC: 19685 AceView: SEPHS1 Ensembl:ENSG00000086475 euGenes: HUgn22929
    ECgene: SEPHS1 Kegg: 22929 H-InvDB: SEPHS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SEPHS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SEPHS1 gene:
    Search GeneIP for patents involving SEPHS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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