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SPCS1 Gene

protein-coding   GIFtS: 49
GCID: GC03P052738

Signal Peptidase Complex Subunit 1 Homolog (S. Cerevisiae)

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Signal Peptidase Complex Subunit 1 Homolog (S. Cerevisiae)1 2     YJR010C-A2
SPC122 3 5     Signal Peptidase 12kDa2
Microsomal Signal Peptidase 12 KDa Subunit2 3     Signal Peptidase Complex Subunit 12
SPase 12 KDa Subunit2 3     EC 3.4.-.-3
SPC12     

External Ids:    HGNC: 234011   Entrez Gene: 289722   Ensembl: ENSG000001149027   OMIM: 6103585   UniProtKB: Q9Y6A93   

Export aliases for SPCS1 gene to outside databases

Previous GC identifers: GC03P052716 GC03P052714


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SPCS1 Gene:
SPCS1 (signal peptidase complex subunit 1 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with SPCS1 include bipolar disorder. GO annotations related to this gene include peptidase activity and ribosome binding.

UniProtKB/Swiss-Prot: SPCS1_HUMAN, Q9Y6A9
Function: Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins
as they are translocated into the lumen of the endoplasmic reticulum (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPCS1 gene promoter:
         RORalpha1   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPCS1 promoter sequence
   Search Chromatin IP Primers for SPCS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPCS1


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

Entrez Gene cytogenetic band: 3p21.1   Ensembl cytogenetic band:  3p21.1   HGNC cytogenetic band: 3p21.31

SPCS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPCS1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P052738:  view genomic region     (about GC identifiers)

Start:
52,738,971 bp from pter      End:
52,742,198 bp from pter
Size:
3,228 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SPCS1_HUMAN, Q9Y6A9 (See protein sequence)
Recommended Name: Signal peptidase complex subunit 1  
Size: 102 amino acids; 11805 Da
Subunit: Component of the microsomal signal peptidase complex which consists of five members: SEC11A, SEC11C,
SPCS1, SPCS2 and SPCS3 (By similarity)
Sequence caution: Sequence=AAD40380.1; Type=Frameshift; Positions=2;
Secondary accessions: B3KNF8 Q9BVW1

Explore the universe of human proteins at neXtProt for SPCS1: NX_Q9Y6A9

Explore proteomics data for SPCS1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPCS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054760.3  
    ENSEMBL proteins: 
     ENSP00000391610   ENSP00000233025   ENSP00000473265  
    Reactome Protein details: Q9Y6A9

    SPCS1 Human Recombinant Protein Products:

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    Novus Biologicals SPCS1 Protein
    Novus Biologicals SPCS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPCS1

    SPCS1 Antibody Products:

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    Search for Antibodies for SPCS1 at Abcam
    Cloud-Clone Corp. Antibodies for SPCS1
    ThermoFisher Antibodies for SPCS1
    Search LSBio for Antibodies for SPCS1

    SPCS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SPCS1
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    Cloud-Clone Corp. ELISAs for SPCS1
    Cloud-Clone Corp. CLIAs for SPCS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009542 SPC12

    Graphical View of Domain Structure for InterPro Entry Q9Y6A9

    ProtoNet protein and cluster: Q9Y6A9

    1 Blocks protein domain: IPB009542 Microsomal signal peptidase 12 kDa subunit

    UniProtKB/Swiss-Prot: SPCS1_HUMAN, Q9Y6A9
    Similarity: Belongs to the SPCS1 family


    SPCS1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPCS1_HUMAN, Q9Y6A9
    Function: Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins
    as they are translocated into the lumen of the endoplasmic reticulum (By similarity)

         Enzyme Number (IUBMB): EC 3.4.-.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
    GO:0008233peptidase activity IEA--
    GO:0043022ribosome binding IEA--
         
    SPCS1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPCS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPCS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPCS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPCS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPCS1:
    hsa-mir-155-5p (MIRT020721)

    Block miRNA regulation of human, mouse, rat SPCS1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SPCS1:
    hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSPCS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPCS1
    Predesigned siRNA for gene silencing in human, mouse, rat SPCS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPCS1

    Clone
    Products:
         
    OriGene clones in human, mouse for SPCS1 (see all 11)
    OriGene ORF clones in mouse, rat for SPCS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPCS1 (NM_014041)
    Sino Biological Human cDNA Clone for SPCS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPCS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPCS1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SPCS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPCS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPCS1_HUMAN, Q9Y6A9: Microsome membrane; Multi-pass membrane protein (By similarity). Endoplasmic reticulum
    membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    chloroplast1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005787signal peptidase complex TAS8632014
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane IDA8632014

    SPCS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SPCS1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Incretin Synthesis, Secretion, and Inactivation
    Incretin Synthesis, Secretion, and Inactivation0.88
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)0.00
    Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.88
    2Influenza Viral RNA Transcription and Replication
    SRP-dependent cotranslational protein targeting to membrane0.83
    Translation0.82
    3Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Synthesis, Secretion, and Deacylation of Ghrelin0.00
    4Gene Expression
    Gene Expression0.40
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4 Reactome Pathways for SPCS1
        Synthesis, secretion, and deacylation of Ghrelin
    Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
    SRP-dependent cotranslational protein targeting to membrane
    Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)


    1 Kegg Pathway  (Kegg details for SPCS1):
        Protein export


    SPCS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPCS1
    Interactions:

        Search GeneGlobe Interaction Network for SPCS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SPCS1 (Q9Y6A91 ENSP000002330254) via UniProtKB, MINT, STRING, and/or I2D (see all 110)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDOSTENSP000003641884STRING: ENSP00000364188
    FAUENSP000002792594STRING: ENSP00000279259
    RPL11ENSP000003636764STRING: ENSP00000363676
    RPL12ENSP000003547394STRING: ENSP00000354739
    RPL15ENSP000003093344STRING: ENSP00000309334
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS--
    GO:0006465signal peptide processing IEA--
    GO:0006508proteolysis TAS8632014
    GO:0006614SRP-dependent cotranslational protein targeting to membrane TAS--
    GO:0010467gene expression TAS--

    SPCS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SPCS1

    2 HMDB Compounds for SPCS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    BiocytinBiotinyl-L-lysine (see all 7)576-19-2--
    N6,N6,N6-Trimethyl-L-lysine(S)-2-amino-6-(trimethylammonio)hexanoate (see all 9)19253-88-4--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SPCS1 gene: 
    NM_014041.3  

    Unigene Cluster for SPCS1:

    Signal peptidase complex subunit 1 homolog (S. cerevisiae)
    Hs.11125  [show with all ESTs]
    Unigene Representative Sequence: CA453810
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000423431 ENST00000233025(uc011bei.2) ENST00000602728 ENST00000448693
    ENST00000474945
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SPCS1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate SPCS1:
    hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidSPCS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPCS1
    Predesigned siRNA for gene silencing in human, mouse, rat SPCS1
    Clone
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    OriGene clones in human, mouse for SPCS1 (see all 11)
    OriGene ORF clones in mouse, rat for SPCS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPCS1 (NM_014041)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPCS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPCS1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPCS1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPCS1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPCS1
      QuantiTect SYBR Green Assays in human, mouse, rat SPCS1
      QuantiFast Probe-based Assays in human, mouse, rat SPCS1

    Additional mRNA sequence: 

    AF092138.1 AK027426.1 BC000884.1 L38852.1 

    15 DOTS entries:

    DT.95274784  DT.219136  DT.120869860  DT.91780589  DT.92441637  DT.443992  DT.100794035  DT.40235990 
    DT.101986498  DT.120869846  DT.40211457  DT.120869807  DT.100033421  DT.121645429  DT.92024478 

    Selected AceView cDNA sequences (see all 71):

    BQ881313 BE048049 H97133 AA953525 AA702099 CA416517 AW014670 AA782200 
    AI446529 AA713692 BM272115 AI277219 AA953666 AI418108 BG178384 R45911 
    BM474952 AW188107 BU681260 AI360960 AI015619 CA453961 AA701513 BM836659 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SPCS1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c · 4d
    SP1:              -                 -                           
    SP2:              -                 -                           
    SP3:              -           -     -                           
    SP4:              -                                             
    SP5:                                -                           


    ECgene alternative splicing isoforms for SPCS1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPCS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCAGCACC
    SPCS1 Expression
    About this image


    SPCS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    SPCS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPCS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.11125
        Custom PCR Arrays for SPCS1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPCS1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPCS1
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    QuantiTect SYBR Green Assays in human, mouse, rat SPCS1
    QuantiFast Probe-based Assays in human, mouse, rat SPCS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPCS1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPCS1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spcs11 , 5 signal peptidase complex subunit 1 homolog (S. cerevisiae)1, 5 79.17(n)1
    75.62(a)1
      14 (19.09 cM)5
    690191  NM_026911.31  NP_081187.21 
     309998265 
    chicken
    (Gallus gallus)
    Aves SPCS11 signal peptidase complex subunit 1 homolog (S. cerevisiae) 76.67(n)
    78.18(a)
      415899  NM_001171644.1  NP_001165115.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPCS16
    signal peptidase complex subunit 1 homolog (S. cer...
    76(a)
    1 ↔ 1
    2(154900388-154903119)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255422 Xenopus laevis transcribed sequence with moderate similarity more 70.53(n)    48053115 
    zebrafish
    (Danio rerio)
    Actinopterygii BI473004.12   -- 74.2(n)    BI473004.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spase126
    Spase 12-subunit
    43(a)
    1 ↔ 1
    3R(25316266-25316872)
    worm
    (Caenorhabditis elegans)
    Secernentea C34B2.106
    Protein C34B2.10 (C34B2.10) mRNA, complete cds
    31(a)
    1 ↔ 1
    I(10682471-10683150) WBGene00016395


    ENSEMBL Gene Tree for SPCS1 (if available)
    TreeFam Gene Tree for SPCS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPCS1 gene

    SPCS1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SPCS1
    PGOHUM00000259604 PGOHUM00000259852


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPCS1 (see all 11)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904788501,2
    --52742091(+) TAAATA/GCCTCA 1 -- ut310--------
    rs1828905001,2
    --52742146(+) TGAGTA/TAACCA 1 -- ut310--------
    rs1458949281,2
    C--52742306(+) CACTT-/GAGGAGGC 1 -- int10--------
    rs1393885791,2
    --52742362(+) ATGGTA/GTGTAA 1 -- int10--------
    rs340174411,2
    C,F,H--52742413(+) GACTTT/CGTTTT 1 -- int121Minor allele frequency- C:0.36NS EA NA WA 2344
    rs1456633121,2
    --52742433(+) TGTCTA/GCCCAG 1 -- int10--------
    rs1476599301,2
    --52742509(+) CAATAC/TGGTGC 1 -- int10--------
    rs124865541,2
    C,F,H--52742537(+) TAATTA/TAAATT 1 -- int19Minor allele frequency- T:0.43NA WA EA 370
    rs716794371,2
    ----52742070(+) TTCAG-/GTGTAAA 2 -- ut310--------
    rs3718706071,2
    ----52742307(+) TGAGG-/AGGCTAAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPCS1 (52738971 - 52742198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPCS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508219CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPCS1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPCS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610358    OMIM disorders: --

    1 disease for SPCS1:    
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    bipolar disorder


    SPCS1 for disorders           About GeneDecksing


    Export disorders for SPCS1 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)
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    PubMed articles for SPCS1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with SPCS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Membrane topology of the 12- and the 25-kDa subunits of the mammalian signal peptidase complex. (PubMed id 8632014)1, 2, 3 Kalies K.-U. and Hartmann E. (J. Biol. Chem. 1996)
    2. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    5. Signal peptidase complex subunit 1 participates in the assembly of hepatitis C virus through an interaction with E2 and NS2. (PubMed id 24009510)1 Suzuki R....Suzuki T. (PLoS Pathog. 2013)
    6. Large-scale top down proteomics of the human proteome: membrane proteins, mitochondria, and senescence. (PubMed id 24023390)2 Catherman A.D.... Kelleher N.L. (Mol. Cell. Proteomics 2013)
    7. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 28972 HGNC: 23401 AceView: SPC12 Ensembl:ENSG00000114902 euGenes: HUgn28972
    ECgene: SPCS1 Kegg: 28972 H-InvDB: SPCS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPCS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SPCS1 gene:
    Search GeneIP for patents involving SPCS1

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



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