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Aliases for C1S Gene

Aliases for C1S Gene

  • Complement Component 1, S Subcomponent 2 3
  • EC 3.4.21.42 4 63
  • Complement Component 1 Subcomponent S 4
  • C1 Esterase 4
  • EC 3.4.21 63

External Ids for C1S Gene

Previous GeneCards Identifiers for C1S Gene

  • GC12U990009
  • GC12P006975
  • GC12P007038
  • GC12P007096
  • GC12P007028
  • GC12P007042

Summaries for C1S Gene

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 c1s deficiency and immunodeficiency due to an early component of complement deficiency. Among its related pathways are Immune System and Complement and coagulation cascades. GO annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is HP.

UniProtKB/Swiss-Prot for C1S Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1S Gene

Genomics for C1S Gene

Regulatory Elements for C1S Gene

Genomic Location for C1S Gene

Chromosome:
12
Start:
6,988,259 bp from pter
End:
7,071,032 bp from pter
Size:
82,774 bases
Orientation:
Plus strand

Genomic View for C1S Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C1S Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1S Gene

Proteins for C1S Gene

  • Protein details for C1S Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09871-C1S_HUMAN
    Recommended name:
    Complement C1s subcomponent
    Protein Accession:
    P09871
    Secondary Accessions:
    • D3DUT4
    • Q9UCU7
    • Q9UCU8
    • Q9UCU9
    • Q9UCV0
    • Q9UCV1
    • Q9UCV2
    • Q9UCV3
    • Q9UCV4
    • Q9UCV5
    • Q9UM14

    Protein attributes for C1S Gene

    Size:
    688 amino acids
    Molecular mass:
    76684 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for C1S Gene

neXtProt entry for C1S Gene

Proteomics data for C1S Gene at MOPED

Post-translational modifications for C1S Gene

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
  • Glycosylation at Asn 174 and Asn 406
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for C1S (Complement Component C1s)

Domains & Families for C1S Gene

Gene Families for C1S Gene

Suggested Antigen Peptide Sequences for C1S Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09871

UniProtKB/Swiss-Prot:

C1S_HUMAN :
  • Contains 2 CUB domains.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 2 CUB domains.
  • Contains 1 EGF-like domain.
  • Contains 1 peptidase S1 domain.
  • Contains 2 Sushi (CCP/SCR) domains.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with C1S: view

Function for C1S Gene

Molecular function for C1S Gene

GENATLAS Biochemistry:
complement component 1,s subcomponent,83kDa,tetramerizing with C1r (2C1r,2C1S),activating C2 and C4 after cleavage,classical pathway of C3 activation
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=12.3 uM for complement component C2 (at 37 degrees Celsius) {ECO:0000269 PubMed:11527969}; KM=1.9 uM for complement component C4 (at 37 degrees Celsius) {ECO:0000269 PubMed:11527969}; Note=Less efficient than MASP2 in C4 cleavage.;
UniProtKB/Swiss-Prot CatalyticActivity:
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.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by SERPING1.
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for C1S Gene

Gene Ontology (GO) - Molecular Function for C1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IDA 11527969
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 2387866
GO:0042802 identical protein binding IPI 2387866
genes like me logo Genes that share ontologies with C1S: view
genes like me logo Genes that share phenotypes with C1S: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C1S

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for C1S Gene

Localization for C1S Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1S Gene COMPARTMENTS Subcellular localization image for C1S gene
Compartment Confidence
extracellular 5
plasma membrane 2

Gene Ontology (GO) - Cellular Components for C1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0070062 extracellular exosome IDA 23376485
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with C1S: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for C1S Gene

Pathways & Interactions for C1S Gene

genes like me logo Genes that share pathways with C1S: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for C1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with C1S: view

No data available for SIGNOR curated interactions for C1S Gene

Drugs & Compounds for C1S Gene

(27) Drugs for C1S Gene - From: NovoSeek, DrugBank, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma Target 63
Adalimumab Approved Pharma Target 411
Cetuximab Approved Pharma Target EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 696
Daclizumab Approved, Investigational Pharma Target 94,126
Etanercept Approved, Investigational Pharma Target 0

(8) Additional Compounds for C1S Gene - From: NovoSeek

genes like me logo Genes that share compounds with C1S: view

Transcripts for C1S Gene

mRNA/cDNA for C1S Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(21) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C1S Gene

Complement component 1, s subcomponent:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C1S

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1S Gene

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: - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - - - -
SP8:
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - -
SP12: - - -
SP13: - - -
SP14: -
SP15: - - -
SP16: - -
SP17:
SP18: - - - - -
SP19: - - - - - - - -
SP20:
SP21: - - - - -
SP22:

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:
SP6:
SP7: - - - -
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:

Relevant External Links for C1S Gene

GeneLoc Exon Structure for
C1S
ECgene alternative splicing isoforms for
C1S

Expression for C1S Gene

mRNA expression in normal human tissues for C1S Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1S Gene

This gene is overexpressed in Liver (x7.6).

Protein differential expression in normal tissues from HIPED for C1S Gene

This gene is overexpressed in Serum (25.9), Plasma (13.3), and Synovial fluid (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C1S Gene



SOURCE GeneReport for Unigene cluster for C1S Gene Hs.458355

genes like me logo Genes that share expression patterns with C1S: view

Protein tissue co-expression partners for C1S Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for C1S Gene

Orthologs for C1S Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1S Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C1S 35
  • 79.99 (n)
  • 75 (a)
C1S 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1S 35
  • 84.88 (n)
  • 79.8 (a)
C1S 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5077 35
  • 80.01 (n)
  • 74.67 (a)
Gm5077 16
C1s 36
  • 74 (a)
OneToMany
Gm5077 36
  • 74 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia C1S 35
  • 99.18 (n)
  • 98.98 (a)
C1S 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1s 35
  • 80.3 (n)
  • 76.13 (a)
oppossum
(Monodelphis domestica)
Mammalia C1S 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1S 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1S 35
  • 63.15 (n)
  • 56.3 (a)
C1S 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 58 (a)
OneToMany
-- 36
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c1s 35
  • 58.03 (n)
  • 52.88 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5153 35
zebrafish
(Danio rerio)
Actinopterygii c1r 36
  • 36 (a)
OneToMany
C1S (2 of 3) 36
  • 34 (a)
OneToMany
C1S (3 of 3) 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
-- 36
  • 26 (a)
ManyToMany
CSA.10613 36
  • 23 (a)
ManyToMany
Species with no ortholog for C1S:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1S Gene

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

Paralogs for C1S Gene

Paralogs for C1S Gene

genes like me logo Genes that share paralogs with C1S: view

Variants for C1S Gene

Sequence variations from dbSNP and Humsavar for C1S Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs7183 -- 7,070,715(+) CTTAT(G/T)ATATT utr-variant-3-prime
rs2192137 -- 7,067,466(+) GTGAG(A/G)GAGCT intron-variant
rs7301101 -- 7,060,117(+) gtcca(G/T)ggact upstream-variant-2KB
rs7310936 -- 7,063,232(+) AATGC(A/G)TGATC intron-variant
rs7962629 -- 7,059,466(+) TAGGC(A/G)GAACT upstream-variant-2KB

Variation tolerance for C1S Gene

Residual Variation Intolerance Score: 26.76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.59; 78.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1S Gene

HapMap Linkage Disequilibrium report
C1S
Human Gene Mutation Database (HGMD)
C1S

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C1S Gene

Disorders for C1S Gene

MalaCards: The human disease database

(16) MalaCards diseases for C1S Gene - From: OMIM, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
c1s deficiency
  • complement component c1s deficiency
immunodeficiency due to an early component of complement deficiency
  • immunodeficiency due to a c1, c4, or c2 component complement deficiency
angioedema
  • quincke's edema
hereditary angioedema
  • hane
acquired angioedema
  • acquired c1 inhibitor deficiency
- elite association
Search C1S in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1S_HUMAN
  • 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. {ECO:0000269 PubMed:11390518}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for C1S Gene

lupus systemic-like syndrome

Relevant External Links for C1S

Genetic Association Database (GAD)
C1S
Human Genome Epidemiology (HuGE) Navigator
C1S
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1S
genes like me logo Genes that share disorders with C1S: view

Publications for C1S Gene

  1. Perioperative management of a patient with hereditary angioedema during off-pump coronary artery bypass graft surgery. (PMID: 20522360) Shick V. … Fleisher A.J. (J Clin Anesth 2010) 23 67
  2. Hereditary angioedema: treatment, management, and precautions in patients presenting for dental care. (PMID: 20123405) Van Sickels N.J. … Van Sickels J.E. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010) 23 67
  3. Modern preoperative and intraoperative management of hereditary angioedema. (PMID: 19368763) Szema A.M. … Jen J. (Allergy Asthma Proc 2009) 23 67
  4. Analogous interactions in initiating complexes of the classical and lectin pathways of complement. (PMID: 19494295) Phillips A.E. … Wallis R. (J. Immunol. 2009) 23 67
  5. [Safety and efficacy of purified human C1-esterase inhibitor in the treatment of patients with sepsis]. (PMID: 19499717) Lazareva N.B. … Igonin A.A. (Antibiot. Khimioter. 2009) 23 67

Products for C1S Gene

Sources for C1S Gene

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