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

SEPSECS Gene

protein-coding   GIFtS: 61
GCID: GC04M025121

Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
 Explore 29 diseases affiliated with
SEPSECS via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SEPSECS    

Aliases
for SEPSECS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase1 2     O-Phosphoseryl-TRNA(Sec) Selenium Transferase2
SLA1 2 3 5     Soluble Liver Antigen/Liver Pancreas Antigen2
LP2 3 5     EC 2.9.1.23
SLA/LP1 2     SepSecS3
Liver-Pancreas Antigen2 3     TRNP483
Soluble Liver Antigen2 3     Sec Synthase3
SLA-P351     Selenocysteine Synthase3
SLA/LP Autoantigen2 3     Selenocysteinyl-TRNA(Sec) Synthase3
TRNA(Ser/Sec)-Associated Antigenic Protein2 3     Sep-TRNA:Sec-TRNA Synthase3
UGA Suppressor TRNA-Associated Protein2 3     EC 2.9.1.N11
PCH2D2     

External Ids:    HGNC: 306051   Entrez Gene: 510912   Ensembl: ENSG000001096187   OMIM: 6130095   UniProtKB: Q9HD403   

Export aliases for SEPSECS gene to outside databases

Previous GC identifers: GC04M024730 GC04M024462


Summaries
for SEPSECS gene

(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 SEPSECS:
The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino
acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third
step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).(provided by RefSeq, Mar
2011)

UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40
Function: Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis

Gene Wiki entry for SEPSECS


Genomic Views
for SEPSECS 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006316.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SEPSECS gene promoter:
         Elk-1   FOXC1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SEPSECS promoter sequence
   Search SABiosciences Chromatin IP Primers for SEPSECS

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


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

Entrez Gene cytogenetic band: 4p15.2   Ensembl cytogenetic band:  4p15.2   HGNC cytogenetic band: 4p15.2

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M025121:  view genomic region     (about GC identifiers)

Start:
 25,121,627 bp from pter      End:
 25,162,204 bp from pter
Size:
 40,578 bases      Orientation:
 minus strand

Proteins
for SEPSECS gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40 (See protein sequence)
Recommended Name: O-phosphoseryl-tRNA(Sec) selenium transferase  
Size: 501 amino acids; 55726 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer formed by a catalytic dimer and a non-catalytic dimer serving as a binding platform that orients
tRNASec for catalysis. Each tetramer binds the CCA ends of two tRNAs which point to the active sites of the catalytic
dimer
Subcellular location: Cytoplasm
Miscellaneous: Possible diagnostic marker for autoimmune hepatitis (AIH)
Sequence caution: Sequence=AAD33963.2; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=AAH23539.1;
Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=CAB62209.1; Type=Erroneous initiation; Note=Translation
N-terminally shortened; Sequence=CAB89517.1; Type=Frameshift; Positions=39;
1 PDB 3D structure from and Proteopedia for SEPSECS:
3HL2 (3D)    
Secondary accessions: A8K8W1 Q0D2P3 Q17RT1 Q9NXZ5 Q9UGM9 Q9Y353
Alternative splicing: 3 isoforms:  Q9HD40-1   Q9HD40-2   Q9HD40-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SEPSECS: NX_Q9HD40

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HD40

    • 4/9 DME Specific Peptides for SEPSECS (Q9HD40) (see all 9)
     GEREGRV  HGIGRSG  QPKAAGSS  TTSCFAPR 

    SEPSECS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_058651.3  
    ENSEMBL proteins: 
     ENSP00000371535   ENSP00000351857   ENSP00000421880   ENSP00000423850   ENSP00000423361  
     ENSP00000305956  

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    Novus Biologicals SEPSECS Proteins
    Novus Biologicals SEPSECS Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SEPSECS
    Uscn Proteins for SEPSECS

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--


    SEPSECS for ontologies           About GeneDecksing



    SEPSECS Antibody Products: 
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    Uscn ELISAs and CLIAs for SEPSECS

    Protein Domains /
    Families
    for SEPSECS gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SEPSECS for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR015424 PyrdxlP-dep_Trfase
     IPR019872 Sec-tRNA_Se_transferase
     IPR008829 SLA/LP_auto_ag
     IPR019793 Peroxidases_heam-ligand_BS
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q9HD40

    ProtoNet protein and cluster: Q9HD40

    1 Blocks protein family: IPB008829 Soluble liver antigenliver pancreas antigen

    UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40
    Similarity: Belongs to the SepSecS family


    Function
    for SEPSECS gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40
    Function: Converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec) required for selenoprotein biosynthesis
    Catalytic activity: O-phospho-L-seryl-tRNA(Sec) + selenophosphate = L-selenocysteinyl-tRNA(Sec) + phosphate

    Enzyme Numbers (IUBMB): EC 2.9.1.n12 EC 2.9.1.21

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPSECS
    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPSECS (see all 44):
    hsa-miR-4291 hsa-miR-26a-2* hsa-miR-3194-5p hsa-miR-607 hsa-miR-4275 hsa-miR-570 hsa-miR-124 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmid: SEPSECS 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPSECS (see all 4)
    OriGene shRNA RFP: SEPSECS
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SEPSECS

    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000049tRNA binding ISS--
    GO:0004601peroxidase activity ----
    GO:0005515protein binding IPI--
    GO:0016740transferase activity ----
    GO:0016785transferase activity, transferring selenium-containing groups IEA--


    SEPSECS for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SEPSECS:
     Increased G1 DNA content 


    Pathways & Interactions
    for SEPSECS gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Selenium Metabolism and Selenoproteins
    		Selenium Metabolism and Selenoproteins1.00
    2Selenocompound metabolism
    		Selenocompound metabolism1.00
    3tRNA Aminoacylation
    		Aminoacyl-tRNA biosynthesis0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for SEPSECS 
        Selenium Metabolism and Selenoproteins


    2         Kegg Pathways  (Kegg details for SEPSECS):
        Selenocompound metabolism
    Aminoacyl-tRNA biosynthesis

    UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40
    Pathway: Aminoacyl-tRNA biosynthesis; selenocysteinyl-tRNA(Sec) biosynthesis; selenocysteinyl-tRNA(Sec) from
    L-seryl-tRNA(Sec) (archaeal/eukaryal route): step 2/2


    SEPSECS for pathways           About GeneDecksing

    Interactions:

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

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

    5/9 Interacting proteins for SEPSECS (Q9HD401, 3 ENSP000003059564) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNMTO431483, ENSP000002621734I2D: score=5 STRING: ENSP00000262173
    CANXP278243I2D: score=5 
    C10orf2Q96RR13I2D: score=3 
    ABL2P426843I2D: score=1 
    PSTKENSP000003578824STRING: ENSP00000357882
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001514selenocysteine incorporation ISS--
    GO:0097056selenocysteinyl-tRNA(Sec) biosynthetic process IEA--


    SEPSECS for ontologies           About GeneDecksing



    Drugs & Compounds
    for SEPSECS gene

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

    SEPSECS for compounds           About GeneDecksing

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

    Browse Tocris compounds for SEPSECS

    4 HMDB Compounds for SEPSECS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Seleniumselenium (see all 5)7782-49-2--
    Selenocysteine(2R)-2-amino-3-selanylpropanoate (see all 8)3614-08-2--
    SelenophosphatePhosphorus selenide (PSe) (see all 4)289702-60-9--

    1 DrugBank Compound for SEPSECS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17194211 11481605

    8 Novoseek chemical compound relationships for SEPSECS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    selenophosphate 80.3 1 16508009 (1)
    selenocysteine 70.2 33 16230358 (4), 17596869 (1), 17194211 (1), 17916946 (1) (see all 5)
    mycophenolate mofetil 52.1 1 15798657 (1)
    ivig 23.2 2 15654899 (1), 15853919 (1)
    cyclosporin a 21.3 1 15798657 (1)
    serine 16.3 2 11230739 (1)
    halothane 14.8 2 7932186 (1)
    steroid 0 1 15497455 (1)

    Search CenterWatch for drugs/clinical trials and news about SEPSECS / SPCS 

    Transcripts
    for SEPSECS gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SEPSECS gene (2 alternative transcripts): 
    NM_016955.3  NM_001159728.1  

    Unigene Cluster for SEPSECS:

    Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
    Hs.253305  [show with all ESTs]
    Unigene Representative Sequence: NM_016955
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382103(uc003grg.3 uc003gri.3) ENST00000358971 ENST00000514585
    ENST00000503150 ENST00000515272 ENST00000505513 ENST00000513285 ENST00000302922(uc003grh.3)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SEPSECS
    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate SEPSECS (see all 44):
    hsa-miR-4291 hsa-miR-26a-2* hsa-miR-3194-5p hsa-miR-607 hsa-miR-4275 hsa-miR-570 hsa-miR-124 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmid: SEPSECS 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SEPSECS (see all 4)
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    Clone
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    Additional cDNA sequence: 

    AF146396.2 AF282065.1 AJ238617.1 AJ277541.1 AK292476.1 AL133065.1 BC012188.1 BC023539.2 
    BC117202.1 BC126213.1 BX648976.1 

    5 DOTS entries:

    DT.401193  DT.309476  DT.92420325  DT.121235771  DT.91637927 

    24/91 AceView cDNA sequences (see all 91):

    NM_153825 BQ440637 CB043916 CR607988 BU686984 AL133065 AI522153 BE350357 
    BM799122 AI623422 AI424896 AI682179 AI635383 AW474173 AJ238617 AI697513 
    CF145365 AA736740 AA512950 AW612675 AI806592 AW268652 CA447648 CF145527 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for SEPSECS (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
    SP1:                          -     -                                   -                                                   
    SP2:                          -     -     -                             -                                                   
    SP3:                          -     -                                                                                       
    SP4:                                                                    -     -     -           -                           
    SP5:                                -                                                                                       


    ECgene alternative splicing isoforms for SEPSECS

    Expression
    for SEPSECS gene

    (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

    SEPSECS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCAGGGAAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SEPSECS expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneThoracic RibBone
    Head MesenchymeHead MesenchymeHead Mesenchyme
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.253305

    UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40
    Tissue specificity: Primarily expressed in liver, pancreas, kidney and lung. Overexpressed in PHA-stimulated T-cells

        SABiosciences Custom PCR Arrays for SEPSECS
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    In Situ
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    Orthologs
    for SEPSECS gene

    (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 SEPSECS gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sepsecs1 , 5 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase less1, 5 86.65(n)1
    88.33(a)1    		   5 (28.44 cM)5
    2110061  NM_172490.31  NP_766078.11 
     526400875 
    chicken
    (Gallus gallus)    		 Aves SEPSECS1 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase less 81.03(n)
    85.14(a)    		   422808  NM_001031158.1  NP_001026329.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SEPSECS6
    		 --
    		 86(a)
    		 1 ↔ 1
    		 GL343664.1(242169-274950)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia AL896073.22   -- 73.03(n)    AL896073.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc559802 hypothetical protein MGC55980 76.21(n)   393123  BC044561.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG14271 CG1427 52.92(n)
    47.22(a)    		   40681  NM_141299.2  NP_649556.3 
    worm
    (Caenorhabditis elegans)    		 Secernentea secs-11 Protein SECS-1 50.87(n)
    45.12(a)    		   179498  NM_073360.2  NP_505761.1 


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

    Paralogs
    for SEPSECS gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for SEPSECS gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for SEPSECS
         1 CNV: 59199
    Human Gene Mutation Database (HGMD): SEPSECS
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SEPSECS
    DNA2.0 Custom Variant and Variant Library Synthesis for SEPSECS

    Disorders / Diseases
    for SEPSECS gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SEPSECS for disorders           About GeneDecksing

    OMIM gene information: 613009    OMIM disorders: --

    UniProtKB/Swiss-Prot: SPCS_HUMAN, Q9HD40
  • Defects in SEPSECS are the cause of pontocerebellar hypoplasia type 2D (PCH2D) [MIM:613811]. PCH2D is a
    • disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly,
    profound mental retardation, spasticity, and variable seizures

    20/29 diseases for SEPSECS (see all 29):    About MalaCards
    alpha 1-antitrypsin deficiency    porphyria cutanea tarda    pontocerebellar hypoplasia    pontocerebellar hypoplasia type 2
    primary biliary cirrhosis    sclerosing cholangitis    liver disease    viral hepatitis
    cholangitis    porphyria    acute liver failure    hypergammaglobulinemia
    hepatitis a    hepatitis    cerebral atrophy    neuritis
    autoimmune hepatitis    hepatitis c    microcephaly    cholestasis

    3 diseases from the University of Copenhagen DISEASES database for SEPSECS:
    Autoimmune hepatitis     Liver disease     Sclerosing cholangitis

    10/16 Novoseek disease relationships for SEPSECS gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis autoimmune 94.1 44 12765472 (3), 8224657 (3), 11230739 (2), 10934580 (2) (see all 29)
    biliary cirrhosis primary 71.8 5 7635404 (1), 16355922 (1), 17320796 (1), 7807283 (1)
    other liver diseases 69.3 1 7635404 (1)
    liver diseases 69.2 5 10801173 (1), 17320796 (1), 11870381 (1), 8224657 (1) (see all 5)
    hepatitis 60.6 6 10952238 (2), 16553048 (1), 19302185 (1), 2103416 (1)
    hepatitis chronic active 58.8 3 1691732 (1), 7807283 (1)
    chronic liver disease 41.9 1 7635404 (1)
    hepatitis chronic 40.2 3 9504898 (1), 15110233 (1), 8224657 (1)
    liver diseases alcoholic 39.6 1 9802516 (1)
    liver damage 38.8 1 1975247 (1)

    Human Genome Epidemiology (HuGE) Navigator: SEPSECS (1 document)

    Export disorders for SEPSECS gene to outside databases

    Publications
    for SEPSECS gene

    (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 SEPSECS gene, integrated from 9 sources (see all 116):
    (articles sorted by number of sources associating them with SEPSECS)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and characterization of cDNA encoding the antigenic protein of the human tRNP(Ser)Sec complex recognized by autoantibodies from patients withtype-1 autoimmune hepatitis. (PubMed id 10931155)1, 2, 3, 9 Costa M.... Gelpi C. (2000)
    2. Biosynthesis of selenocysteine on its tRNA in eukaryotes. (PubMed id 17194211)1, 3, 7, 9 Xu X.M....Hatfield D.L. (2007)
    3. RNA-dependent conversion of phosphoserine forms selenocysteine in eukaryotes and archaea. (PubMed id 17142313)1, 2, 3 Yuan J.... Soell D. (2006)
    4. Evidence for direct roles of two additional factors, SECp43 and soluble liver antigen, in the selenoprotein synthesis machinery. (PubMed id 16230358)1, 3, 9 Xu X.M....Hatfield D.L. (2005)
    5. Identification of target antigen for SLA/LP autoantibodies in autoimmune hepatitis. (PubMed id 10801173)1, 2, 9 Wies I.... Lohse A.W. (2000)
    6. Soluble liver antigen: isolation of a 35-kd recombinant protein (SLA- p35) specifically recognizing sera from patients with autoimmune hepatitis. (PubMed id 11230739)1, 2, 9 Volkmann M.... Manns M.P. (2001)
    7. Fine specificity of autoantibodies to soluble liver antigen and liver/pancreas. (PubMed id 11826415)1, 2, 9 Herkel J.... Lohse A.W. (2002)
    8. Mutations disrupting selenocysteine formation cause p rogressive cerebello-cerebral atrophy. (PubMed id 20920667)1, 2 Agamy O....Birk O.S. (2010)
    9. The human SepSecS-tRNASec complex reveals the mechani sm of selenocysteine formation. (PubMed id 19608919)1, 2 Palioura S....Simonovic M. (2009)
    10. A bioinformatical approach suggests the function of the autoimmune hepatitis target antigen soluble liver antigen/liver pancreas. (PubMed id 11481605)7, 9 Kernebeck T....Grotzinger J. (2001)

    External Searches for SEPSECS gene

    (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)

    Genome Databases showing SEPSECS gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51091 HGNC: 30605 AceView: SLA\/LP Ensembl:ENSG00000109618 euGenes: HUgn51091
    ECgene: SEPSECS Kegg: 51091 H-InvDB: SEPSECS

    Other Databases showing SEPSECS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SEPSECS gene

    (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 SEPSECS Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SEPSECS gene

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

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



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