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] See more...

Aliases for C1S Gene

Aliases for C1S Gene

  • Complement C1s 2 3 5
  • Complement Component 1, S Subcomponent 2 3
  • Complement Component 1 Subcomponent S 3 4
  • Complement C1s Subcomponent 3 4
  • EC 3.4.21.42 4 50
  • C1 Esterase 3 4
  • Basic Proline-Rich Peptide IB-1 3
  • EC 3.4.21 50
  • EDSPD2 3
  • C1S 5

External Ids for C1S Gene

Previous GeneCards Identifiers for C1S Gene

  • GC12U990009
  • GC12P006975
  • GC12P007038
  • GC12P007096
  • GC12P007028
  • GC12P007042
  • GC12P007182
  • GC12P007589
  • GC12P007643
  • GC12P007695
  • GC12P007884
  • GC12P007229
  • GC12P007283
  • GC12P007328
  • GC12P007377
  • GC12P007423
  • GC12P007466
  • GC12P007509
  • GC12P007553
  • GC12P008238
  • GC12P009008

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 C1s) is a Protein Coding gene. Diseases associated with C1S include Ehlers-Danlos Syndrome, Periodontal Type, 2 and Complement Component C1s Deficiency. Among its related pathways are Complement and coagulation cascades and Creation of C4 and C2 activators. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is C1R.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1S Gene

Genomics for C1S Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1S Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J007059 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 250.2 +72.5 72479 2.4 IKZF1 CEBPA ATF3 YY1 REST CEBPB HOMEZ CTCF THAP11 FOXA2 HSALNG0088966 C1S C1R C1RL C1RL-AS1 LPCAT3 PHB2 SCARNA12 EMG1 RNU6-485P
GH12J006987 Enhancer 0.6 Ensembl ENCODE 250.7 -0.1 -60 2 FOXA2 RFX5 RFX1 SREBF1 C1S HSALNG0088960 EMG1 LPCAT3 lnc-PHB2-3
GH12J006602 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.9 -381.9 -381946 8.6 SP1 ZNF207 NCOR1 ZNF600 IKZF1 ZNF580 POLR2A ZNF10 ATF3 ZSCAN16 CHD4 ENSG00000285238 ZNF384 ENSG00000219410 ENSG00000247853 NCAPD2 NOP2 ING4 SPSB2 EMG1
GH12J006991 Enhancer 0.2 Ensembl 250.7 +1.2 1242 0.2 C1S HSALNG0088962 EMG1 lnc-PHB2-3 LPCAT3
GH12J006990 Enhancer 0.2 Ensembl 250.7 +1.6 1642 0.2 C1S HSALNG0088962 EMG1 lnc-PHB2-3 LPCAT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1S on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1S

Top Transcription factor binding sites by QIAGEN in the C1S gene promoter:
  • FOXO1
  • FOXO1a
  • GATA-6
  • IRF-7A
  • MyoD
  • Nkx2-5

Genomic Locations for C1S Gene

Latest Assembly
chr12:6,988,259-7,071,032
(GRCh38/hg38)
Size:
82,774 bases
Orientation:
Plus strand

Previous Assembly
chr12:7,168,022-7,178,336
(GRCh37/hg19 by Entrez Gene)
Size:
10,315 bases
Orientation:
Plus strand

chr12:7,096,351-7,178,336
(GRCh37/hg19 by Ensembl)
Size:
81,986 bases
Orientation:
Plus strand

Genomic View for C1S Gene

Genes around C1S on UCSC Golden Path with GeneCards custom track

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

Selected DME Specific Peptides for C1S Gene

P09871:
  • LYFTHLD
  • DIALVRL
  • GGYFCSCPPEYFLH
  • PYPENSRCEYQI
  • SDFSNEERFTGF
  • FTGFAAYY
  • FYSTCQSNG
  • CKGDSGG
  • FTHLDIE
  • WVLTAAH
  • DPVKMGP
  • CQPVDCG

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 Asn174 and Asn406
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

  • Abcam antibodies for C1S
  • Santa Cruz Biotechnology (SCBT) Antibodies for C1S

Domains & Families for C1S Gene

Gene Families for C1S Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for C1S Gene

InterPro:
Blocks:
  • Serine protease, trypsin family
  • Chymotrypsin serine protease family (S1) signature
  • CUB domain
  • Aspartic acid and asparagine hydroxylation site

Suggested Antigen Peptide Sequences for C1S Gene

GenScript: Design optimal peptide antigens:
  • Complement component 1 subcomponent s (C1S_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09871

UniProtKB/Swiss-Prot:

C1S_HUMAN :
  • Belongs to the peptidase S1 family.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.4.21.42; Evidence={ECO:0000269|PubMed:11527969};.
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 EnzymeRegulation:
Inhibited by SERPING1.
GENATLAS Biochemistry:
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) for C1S Gene

Phenotypes From GWAS Catalog 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 IEA,IDA 11527969
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 2387866
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with C1S: view
genes like me logo Genes that share phenotypes with C1S: view

Human Phenotype Ontology for C1S Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1S

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

Localization for C1S Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1S gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA 21873635
GO:0072562 blood microparticle HDA 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

Pathways by source for C1S Gene

1 GeneGo (Thomson Reuters) pathway for C1S Gene
  • Immune response Classical complement pathway
2 Qiagen pathways for C1S Gene
  • Classical Complement Pathway
  • Complement Pathway

Gene Ontology (GO) - Biological Process for C1S Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway IEA,TAS --
GO:0030449 regulation of complement activation 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

(21) Drugs for C1S Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Conestat alfa Approved, Investigational Pharma Target, inhibitor 0
Copper Approved, Investigational Pharma Target 276
Human C1-esterase inhibitor Approved Pharma Target, inhibitor 0
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0

(7) Additional Compounds for C1S Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C1S: view

Transcripts for C1S Gene

mRNA/cDNA for C1S Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1S

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

Expression for C1S Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for C1S Gene



Protein tissue co-expression partners for C1S Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1S

SOURCE GeneReport for Unigene cluster for C1S Gene:

Hs.458355

Evidence on tissue expression from TISSUES for C1S Gene

  • Liver(4.9)
  • Nervous system(4.9)
  • Lung(4.6)
  • Blood(4.6)
  • Intestine(4.6)
  • Spleen(4.5)
  • Bone marrow(4.3)
  • Skin(3.9)
  • Heart(3.5)
  • Stomach(3.2)
  • Kidney(3.1)
  • Lymph node(3)
  • Muscle(3)
  • Pancreas(2.9)
  • Eye(2.9)
  • Gall bladder(2.6)
  • Adrenal gland(2.5)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1S Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • scalp
  • thyroid
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with C1S: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia C1S 29 30
  • 99.18 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C1S 29 30
  • 84.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C1s 29
  • 80.3 (n)
Mouse
(Mus musculus)
Mammalia Gm5077 29 30
  • 80.01 (n)
OneToMany
C1s 30
  • 74 (a)
OneToMany
C1s1 16
C1s2 16
Cow
(Bos Taurus)
Mammalia C1S 29 30
  • 79.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1S 30
  • 69 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C1S 30
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1S 29 30
  • 63.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 58 (a)
OneToMany
-- 30
  • 55 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c1s 29
  • 58.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5153 29
Zebrafish
(Danio rerio)
Actinopterygii c1r 30
  • 36 (a)
OneToMany
C1S (3 of 3) 30
  • 35 (a)
OneToMany
C1S (2 of 3) 30
  • 34 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 28 (a)
ManyToMany
-- 30
  • 27 (a)
ManyToMany
-- 30
  • 26 (a)
ManyToMany
-- 30
  • 26 (a)
ManyToMany
CSA.10613 30
  • 23 (a)
ManyToMany
Species where no ortholog for C1S was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for C1S: view image
Alliance of Genome Resources:
Additional Orthologs for C1S

Paralogs for C1S Gene

(31) SIMAP similar genes for C1S Gene using alignment to 7 proteins:

  • C1S_HUMAN
  • B5MCV4_HUMAN
  • C9IZP8_HUMAN
  • C9JY52_HUMAN
  • F5H7T4_HUMAN
  • F8WCZ6_HUMAN
  • H0Y5D1_HUMAN
genes like me logo Genes that share paralogs with C1S: view

Variants for C1S Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1S Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1012817 Uncertain Significance: not provided 7,067,690(+) G/T
NM_001734.5(C1S):c.1114G>T (p.Asp372Tyr)
MISSENSE
1017844 Uncertain Significance: not provided 7,065,297(+) G/C
NM_001734.5(C1S):c.715G>C (p.Val239Leu)
MISSENSE
1041018 Uncertain Significance: not provided 7,070,408(+) G/C
NM_001734.5(C1S):c.1824G>C (p.Glu608Asp)
MISSENSE
871277 Uncertain Significance: not provided 7,062,526(+) G/A
NM_001734.5(C1S):c.57G>A (p.Met19Ile)
MISSENSE_VARIANT,INTRON
916404 Uncertain Significance: not provided 7,064,351(+) C/T
NM_001734.5(C1S):c.476C>T (p.Pro159Leu)
MISSENSE_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1S Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for C1S Gene

Residual Variation Intolerance Score: 26.8% 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)

Additional Variant Information for C1S Gene

Human Gene Mutation Database (HGMD)
C1S
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1S
Leiden Open Variation Database (LOVD)
C1S

SNP Genotyping and Copy Number Assays for research

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

(35) MalaCards diseases for C1S Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
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 variants affecting the gene represented in this entry.
  • Ehlers-Danlos syndrome, periodontal type, 2 (EDSPD2) [MIM:617174]: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSPD2 is characterized by the association of typical features of Ehlers-Danlos syndrome with gingival recession and severe early-onset periodontal disease, leading to premature loss of permanent teeth. EDSPD2 transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269 PubMed:27745832}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for C1S Gene

lupus systemic-like syndrome

Additional Disease Information for C1S

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C1S: view

Publications for C1S Gene

  1. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. (PMID: 27745832) Kapferer-Seebacher I … Zschocke J (American journal of human genetics 2016) 3 4 72
  2. X-ray structure of the Ca2+-binding interaction domain of C1s. Insights into the assembly of the C1 complex of complement. (PMID: 12788922) Gregory LA … Gaboriaud C (The Journal of biological chemistry 2003) 3 4 22
  3. Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. (PMID: 11390518) Dragon-Durey MA … Fridman WH (Journal of immunology (Baltimore, Md. : 1950) 2001) 3 4 22
  4. Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene. (PMID: 9856483) Inoue N … Sakiyama H (Human genetics 1998) 3 22 72
  5. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 40

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