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C1S Gene

protein-coding   GIFtS: 71
GCID: GC12P007096

Complement Component 1, S Subcomponent

  See C1S-related diseases
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
Complement Component 1, S Subcomponent1 2     Basic Proline-Rich Peptide IB-12
Complement Component 1 Subcomponent S2 3     Complement C1s Subcomponent2
C1 Esterase2 3     EC 3.4.218
EC 3.4.21.423 8     

External Ids:    HGNC: 12471   Entrez Gene: 7162   Ensembl: ENSG000001823267   OMIM: 1205805   UniProtKB: P098713   

Export aliases for C1S gene to outside databases

Previous GC identifers: GC12U990009 GC12P006975 GC12P007038 GC12P007028


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for C1S Gene:
This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s
associates with two other complement components C1r and C1q in order to yield the first component of the serum
complement system. Defects in this gene are the cause of selective C1s deficiency. (provided by RefSeq, Mar 2009)

GeneCards Summary for C1S Gene:
C1S (complement component 1, s subcomponent) is a protein-coding gene. Diseases associated with C1S include capillary leak syndrome, and c1s deficiency. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: C1S_HUMAN, P09871
Function: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the
classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4

Gene Wiki entry for C1S 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_009759.17  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1S gene promoter:
         GATA-6   MyoD   FOXO1a   IRF-7A   Nkx2-5   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1S promoter sequence
   Search Chromatin IP Primers for C1S

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1S


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

Entrez Gene cytogenetic band: 12p13   Ensembl cytogenetic band:  12p13.31   HGNC cytogenetic band: 12p13

C1S Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1S gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P007096:  view genomic region     (about GC identifiers)

Start:
7,096,351 bp from pter      End:
7,178,336 bp from pter
Size:
81,986 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: C1S_HUMAN, P09871 (See protein sequence)
Recommended Name: Complement C1s subcomponent precursor  
Size: 688 amino acids; 76684 Da
Subunit: C1 is a calcium-dependent trimolecular complex of C1q, C1r and C1s in the molar ration of 1:2:2.
Activated C1s is an disulfide-linked heterodimer of a heavy chain and a light chain
Selected PDB 3D structures from and Proteopedia for C1S (see all 7):
1ELV (3D)        1NZI (3D)        4J1Y (3D)        4LMF (3D)        4LOR (3D)        4LOS (3D)    
Secondary accessions: D3DUT4 Q9UCU7 Q9UCU8 Q9UCU9 Q9UCV0 Q9UCV1 Q9UCV2 Q9UCV3 Q9UCV4 Q9UCV5
Q9UM14

Explore the universe of human proteins at neXtProt for C1S: NX_P09871

Explore proteomics data for C1S at MOPED

Post-translational modifications: 

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains1
  • Glycosylation2 at Asn174, Asn406
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for C1S (P09871) (see all 12)
     DIALVRL  DPVKMGP  CQPVDCG  LYFTHLD 


    See C1S Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001725.1  NP_958850.1  

    ENSEMBL proteins: 
     ENSP00000385035   ENSP00000328173   ENSP00000354057   ENSP00000384171   ENSP00000399892  
     ENSP00000406643   ENSP00000384464   ENSP00000397921   ENSP00000442298  
    Reactome Protein details: P09871

    C1S Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for C1S
    OriGene MassSpec for C1S
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    GenScript Custom Purified and Recombinant Proteins Services for C1S
    Novus Biologicals C1S Protein
    Novus Biologicals C1S Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for C1S 

     
    antibodies-online proteins for C1S (5 products) 

     
    Search antibodies-online for peptides for C1S

    C1S Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search for Antibodies for C1S at Abcam
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for C1S
    antibodies-online antibodies for C1S (50 products) 

    C1S Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for C1S
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for C1S 
    antibodies-online kits for C1S (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    complement: Complement system

    Selected InterPro protein domains (see all 10):
     IPR024175 Pept_S1A_C1r/C1S/mannan-bd
     IPR001314 Peptidase_S1A
     IPR000436 Sushi_SCR_CCP
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P09871

    ProtoNet protein and cluster: P09871

    4 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000859 CUB domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: C1S_HUMAN, P09871
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains


    Find genes that share domains with C1S           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1S_HUMAN, P09871
    Function: C1s B chain is a serine protease that combines with C1q and C1r to form C1, the first component of the
    classical pathway of the complement system. C1r activates C1s so that it can, in turn, activate C2 and C4
    Catalytic activity: Cleavage of Arg- -Ala bond in complement component C4 to form C4a and C4b, and Lys(or Arg)-
    -Lys bond in complement component C2 to form C2a and C2b: the 'classical' pathway C3 convertase
    Enzyme regulation: Inhibited by SERPING1
    Biophysicochemical properties: Kinetic parameters: KM=12.3 uM for complement component C2 (at 37 degrees Celsius);
    KM=1.9 uM for complement component C4 (at 37 degrees Celsius); Note=Less efficient than MASP2 in C4 cleavage;

         Genatlas biochemistry entry for C1S:
    complement component 1,s subcomponent,83kDa,tetramerizing with C1r (2C1r,2C1S),activating C2 and C4 after
    cleavage,classical pathway of C3 activation

         Enzyme Numbers (IUBMB): EC 3.4.21.421 2 EC 3.4.212

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA11527969
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI12788922
    GO:0042802identical protein binding IPI12788922
         
    Find genes that share ontologies with C1S           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for C1S:
     Synthetic lethal with paclitax  Upregulation of Wnt/beta-caten 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C1S

    miRNA
    Products:
        
    miRTarBase miRNAs that target C1S:
    hsa-mir-335-5p (MIRT018885)

    Block miRNA regulation of human, mouse, rat C1S using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate C1S
    SwitchGear 3'UTR luciferase reporter plasmidC1S 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C1S
    Predesigned siRNA for gene silencing in human, mouse, rat C1S

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C1S

    Clone
    Products:
         
    OriGene clones in human, mouse for C1S (see all 13)
    OriGene ORF clones in mouse, rat for C1S
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): C1S (NM_201442)
    Sino Biological Human cDNA Clone for C1S
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1S
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1S

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for C1S 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1S


    (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 COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane2
    cytosol1
    lysosome1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with C1S           About GenesLikeMe


    (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 C1S About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Classic complement pathway0.56
    Complement Activation Pathways0.30
    Complement Pathway0.33
    Classical Complement Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    Complement and Coagulation Cascades0.71
    3Creation of C4 and C2 activators
    Creation of C4 and C2 activators0.85
    Classical antibody-mediated complement activation0.82
    Initial triggering of complement0.85
    Complement cascade0.68
    4RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    5Staphylococcus aureus infection
    Staphylococcus aureus infection


    Find genes that share SuperPaths with C1S           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for C1S
        Classical Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for C1S
        Immune response Classical complement pathway

    2 BioSystems Pathways for C1S
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    1 Sino Biological Pathway for C1S
        Complement Activation Pathways

    2 Reactome Pathways for C1S
        Classical antibody-mediated complement activation
    Initial triggering of complement


    4 Kegg Pathways  (Kegg details for C1S):
        Complement and coagulation cascades
    Pertussis
    Staphylococcus aureus infection
    Systemic lupus erythematosus

        Pathway & Disease-focused RT2 Profiler PCR Array including C1S: 
              Multiple Sclerosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for C1S

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for C1S (P098711, 2, 3 ENSP000003281734) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1RP007361, 3EBI-2810045,EBI-3926504 I2D: score=3 
    ENSG00000231543P066813, ENSP000004079614I2D: score=1 STRING: ENSP00000407961
    C2P066813I2D: score=1 
    ENSG00000204364P066813I2D: score=1 
    ENSG00000206372P066813I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway TAS--
    GO:0045087innate immune response TAS--

    Find genes that share ontologies with C1S           About GenesLikeMe



    (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
       Enzo Life Sciences drugs & compounds for C1S
      Browse compounds at ApexBio 

    Browse Tocris compounds for C1S

    1 HMDB Compound for C1S    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected DrugBank Compounds for C1S (see all 11)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-(2-Hydroxy-1,1-Dihydroxymethyl-Ethylamino)-Ethanesulfonic Acid-- 7365-44-8target--17139284 17016423
    Abciximab7E3 (see all 4)143653-53-6target--17016423 17139284
    Adalimumab-- 331731-18-1target--17016423 17139284
    Basiliximabchimeric mouse-human antiCD25 (see all 2)152923-56-3target--17016423 17139284
    CetuximabAnti EGFR (see all 2)205923-56-4target--17139284 17016423
    EtanerceptCD120b (see all 7)185243-69-0target--17139284 17016423
    Gemtuzumab ozogamicinanti-CD33 (see all 2)220578-59-6target--17016423 17139284
    IbritumomabIg gamma-2A chain C region, membrane-bound form (see all 2)174722-31-7target--17016423 17139284
    MuromonabAntiCD3 (see all 2)140608-64-6target--17016423 17139284
    RituximabAntiCD20 (see all 2)174722-31-7target--17016423 17139284

    Selected Novoseek inferred chemical compound relationships for C1S gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    danazol 76.8 8 16533452 (2), 2108593 (1), 8964952 (1), 15168463 (1) (see all 6)
    tranexamic acid 59.6 1 20123405 (1)
    astacin 59.5 2 8125188 (1), 7813777 (1)
    stanozolol 54.5 1 19368763 (1)
    3,4-dichloroisocoumarin 51.5 1 1607651 (1)
    serine 48.4 25 10878362 (2), 10408360 (1), 11714829 (1), 19477526 (1) (see all 21)
    kininogen 33.8 1 7743613 (1)
    fibrinogen 26.8 5 7743613 (1), 9702994 (1), 2080860 (1), 9767551 (1) (see all 5)
    taurocholate 20.9 2 7622941 (1), 10360224 (1)
    heparin 18.1 7 9037638 (1), 11209757 (1), 9610759 (1), 9882449 (1) (see all 6)



    Find genes that share compounds with C1S           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C1S gene (2 alternative transcripts): 
    NM_001734.3  NM_201442.2  

    Unigene Cluster for C1S:

    Complement component 1, s subcomponent
    Hs.458355  [show with all ESTs]
    Unigene Representative Sequence: NM_201442
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000406697(uc001qsj.3) ENST00000328916(uc001qsk.3 uc001qsl.3 uc009zfr.3)
    ENST00000360817 ENST00000402681 ENST00000489541 ENST00000541647 ENST00000543187
    ENST00000488701 ENST00000423384 ENST00000413211 ENST00000403949 ENST00000443875(uc009zfs.3)
    ENST00000542978 ENST00000495053 ENST00000463798 ENST00000473545 ENST00000470326
    ENST00000461983
    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): C1S (NM_201442)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1S
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C1S
      QuantiTect SYBR Green Assays in human, mouse, rat C1S
      QuantiFast Probe-based Assays in human, mouse, rat C1S

    Additional mRNA sequence: 

    AK025309.1 AK290295.1 AM886411.1 BC056903.1 J04080.1 M18767.1 

    Selected DOTS entries (see all 50):

    DT.100665411  DT.100684460  DT.100049664  DT.102841603  DT.117487  DT.102841602  DT.95349462  DT.102841611 
    DT.121157850  DT.100042549  DT.121157252  DT.121157676  DT.121157532  DT.121157778  DT.121157977  DT.121157491 
    DT.95349455  DT.100684454  DT.121157584  DT.121157349  DT.121157925  DT.121157278  DT.121157330  DT.97762488 

    10 AceView cDNA sequences:

    NM_001734 AK055183 NM_201442 BC056903 AK025309 AK126711 J04080 M18767 
    X06596 CR749503 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C1S (see all 22)    About this scheme

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

    ExUns: 9d · 9e ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18a · 18b · 18c
    SP1:                                                                    -                                   -                     
    SP2:                                                                    -                                   -                     
    SP3:                                                                                                        -                     
    SP4:                                                                                                                              
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for C1S

    (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)
    About This Section

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    C1S expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGAAAGAA
    C1S Expression
    About this image


    C1S expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Atrioventricular Node
     
     Ovary (Reproductive System)
    C1S Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1S Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.458355
        Pathway & Disease-focused RT2 Profiler PCR Array including C1S: 
              Multiple Sclerosis in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for C1S
    OriGene qSTAR qPCR primer pairs in human, mouse for C1S
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    QuantiFast Probe-based Assays in human, mouse, rat C1S
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1S

    (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 chordates.

    Orthologs for C1S gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm50771 , 5 predicted gene 50771, 5 80.01(n)1
    74.67(a)1
      6 (59.17 cM)5
    3176771  NM_173864.21  NP_776289.21 
     1246246255 
    chicken
    (Gallus gallus)
    Aves C1S1 complement component 1, s subcomponent 63.15(n)
    56.3(a)
      418294  NM_001030777.1  NP_001025948.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    58(a)
    55(a)
    1 ↔ many
    1 ↔ many
    GL343218.1(377756-400280)
    GL343218.1(79854-88584)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.51532 Xenopus laevis transcribed sequence with weak similarity more 76.29(n)    CF522055.1 
    zebrafish
    (Danio rerio)
    Actinopterygii c1r6
    C1S (3 of 3)6
    (see all 3)
    complement component 1, s subcomponent
    (see all 3)
    36(a)
    35(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    16(34168148-34180684) ENSDARG00000011144
    16(34182219-34192603) ENSDARG00000089722


    ENSEMBL Gene Tree for C1S (if available)
    TreeFam Gene Tree for C1S (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1S gene
    PROZ2  C1R2  C1RL2  F92  F102  MASP12  F22  HPR2  
    HP2  PROC2  F72  MASP22  
    Selected SIMAP similar genes for C1S using alignment to 7 protein entries:     C1S_HUMAN (see all proteins) (see all similar genes):
    KLK2    DKFZp586F0824    DMBT1    CUBN    MASP1    NRP1
    TLL1    CSMD3    DKFZp686O1553    NRP2    CSMD1    GPR126
    C1R    HPN    MASP2    PROC1    PRSS1    KLK4

    Find genes that share paralogs with C1S           About GenesLikeMe



    (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 C1S (see all 352)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219095821,2
    C,Fpathogenic17108814(+) TGGTGC/TGGCTG 4 R W mis11Minor allele frequency- T:0.00NA 4550
    rs1886599331,2
    --7097358(+) CACTAC/TTGTAA 2 -- us2k10--------
    rs1932674681,2
    --7097359(+) ACTATC/TGTAAA 2 -- us2k10--------
    rs1476024211,2
    --7097443(+) TGACCC/TCCACC 2 -- us2k10--------
    rs1164409491,2
    C,F--7097506(+) CCCCAA/GCGAAT 2 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1850089381,2
    --7097563(+) AGAACA/CCTAGC 2 -- us2k10--------
    rs1421884641,2
    --7097632(+) GCTCTA/GTGTTG 2 -- us2k10--------
    rs1886703751,2
    --7097691(+) GTCTAC/TGCAGC 2 -- us2k10--------
    rs1923278701,2
    --7097714(+) CCCTTC/TGGGTG 2 -- us2k10--------
    rs1841151691,2
    --7097715(+) CCTTCA/GGGTGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for C1S (7096351 - 7178336 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C1S: --
    Human Gene Mutation Database (HGMD): C1S
    Locus Specific Mutation Databases (LSDB): C1S

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1S
    DNA2.0 Custom Variant and Variant Library Synthesis for C1S

    (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.)
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    OMIM gene information: 120580   
    OMIM disorders: 613783  
    UniProtKB/Swiss-Prot: C1S_HUMAN, P09871
  • Complement component C1s deficiency (C1SD) [MIM:613783]: A rare defect resulting in C1 deficiency and
    impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex
    disease with features of systemic lupus erythematosus and glomerulonephritis. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 18 diseases for C1S:    
    About MalaCards
    capillary leak syndrome    c1s deficiency    acquired angioedema    epiglottitis
    mitochondrial dna depletion syndrome 9    croup    c1 inhibitor deficiency    macroglossia
    hereditary angioedema    angioedema    speech disorder    purpura fulminans
    toxic shock syndrome    dysphagia    complement component 4, partial deficiency of    marginal zone b-cell lymphoma
    complement deficiency    mitochondrial dna depletion syndrome

    4 diseases from the University of Copenhagen DISEASES database for C1S:
    Urticaria     Complement deficiency     Lupus erythematosus     Connective tissue disease

    Find genes that share disorders with C1S           About GenesLikeMe

    Selected Novoseek inferred disease relationships for C1S gene (see all 46)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    angioedema, hereditary 97.7 147 14617586 (5), 19767078 (4), 12354812 (3), 10644276 (3) (see all 99)
    angioedema 92.3 53 14617586 (3), 9267242 (3), 8823689 (2), 11051190 (2) (see all 38)
    laryngeal edema 80.2 5 12767961 (2), 10761488 (1), 15643320 (1)
    urticaria 66.6 8 8574434 (3), 8401339 (2), 16724632 (1), 12505453 (1) (see all 5)
    capillary leak syndrome 65.8 2 14727019 (1), 15015747 (1)
    edema 64.3 20 11718165 (3), 16610507 (2), 15321158 (1), 11126274 (1) (see all 17)
    tongue swelling 57.9 1 17390765 (1)
    airway obstruction 43 3 16610507 (1), 12767961 (1), 8133830 (1)
    lymphoproliferative disorders 42.6 6 17513516 (1), 10644276 (1), 11720182 (1), 1975299 (1) (see all 6)
    macroglossia 33.8 1 12635405 (1)

    Genatlas disease: C1S
    lupus systemic-like syndrome

    Genetic Association Database (GAD): C1S
    Human Genome Epidemiology (HuGE) Navigator: C1S (6 documents)

    Export disorders for C1S 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 C1S gene, integrated from 10 sources (see all 338):
    (articles sorted by number of sources associating them with C1S)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. X-ray structure of the Ca2+-binding interaction domain of C1s. Insights into the assembly of the C1 complex of complement. (PubMed id 12788922)1, 2, 9 Gregory L.A....Gaboriaud C. (J. Biol. Chem. 2003)
    2. Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. (PubMed id 11390518)1, 2, 9 Dragon-Durey M.-A.... Fridman W.-H. (J. Immunol. 2001)
    3. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    5. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1, 4 Cerhan J.R....Slager S.L. (Br. J. Haematol. 2009)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)
    7. 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)
    8. Substrate specificities of recombinant mannan-binding lectin- associated serine proteases-1 and -2. (PubMed id 11527969)1, 2 Rossi V....Arlaud G.J. (J. Biol. Chem. 2001)
    9. Crystal structure of the catalytic domain of human complement c1s: a serine protease with a handle. (PubMed id 10775260)1, 2 Gaboriaud C.... Fontecilla-Camps J.-C. (EMBO J. 2000)
    10. Two lineages of mannose-binding lectin-associated serine protease (MASP) in vertebrates. (PubMed id 9794427)1, 2 Endo Y.... Fujita T. (J. Immunol. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 716 HGNC: 1247 AceView: C1S Ensembl:ENSG00000182326 euGenes: HUgn716
    ECgene: C1S Kegg: 716 H-InvDB: C1S

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for C1S Pharmacogenomics, SNPs, Pathways
    C1Sbasehttp://bioinf.uta.fi/C1Sbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1S gene:
    Search GeneIP for patents involving C1S

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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