• Gene id: 716

Gene Summary

• Gene Symbol: C1S   Gene   UCSC   Ensembl
• Aliases: EDSPD2
• Gene name: complement C1s
• Alternate names: complement C1s subcomponent, C1 esterase, basic proline-rich peptide IB-1, complement component 1 subcomponent s, complement component 1, s subcomponent,
• Gene location: 12p13.31 (7060717: 7071031)     Exons: 13     NC_000012.12
• Gene summary(Entrez): 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 thi
• OMIM: 120580

SNPs

rs7562326

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31573695T>A
NC_000002.12   g.31573695T>C
NC_000002.11   g.31798765T>A
NC_000002.11   g.31798765T>C
NG_008365.1   g.12277A>T
NG_008365.1   g.12277A>G|SEQ=[T/A/C]|GENE=SRD5A2

rs523349

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580636G>A
NC_000002.12   g.31580636G>C
NC_000002.12   g.31580636G>T
NC_000002.11   g.31805706G>A
NC_000002.11   g.31805706G>C
NC_000002.11   g.31805706G>T
NG_008365.1   g.5336C>T
NG_008365.1   g.5336C>G
NG_008365.1   g.5336C>A
NM_000348.4   c.265C>T
N  

rs632148

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31580962C>G
NC_000002.11   g.31806031C>G
NG_008365.1   g.5010G>C
NM_000348.3   c.-62G>C|SEQ=[C/G]|GENE=SRD5A2

rs2300701

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31561938A>G
NC_000002.11   g.31787008A>G
NG_008365.1   g.24034T>C|SEQ=[A/G]|GENE=SRD5A2

rs2268797

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31558682C>T
NC_000002.11   g.31783752C>T
NG_008365.1   g.27290G>A
XM_011533069.2   c.-171G>A|SEQ=[C/T]|GENE=SRD5A2

rs12470143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.31538488C>T
NC_000002.11   g.31763558C>T
NG_008365.1   g.47484G>A|SEQ=[C/T]|GENE=SRD5A2

Protein Summary

• Protein general information: P09871  
  • Name: Complement C1s subcomponent (EC 3.4.21.42) (C1 esterase) (Complement component 1 subcomponent s) [Cleaved into: Complement C1s subcomponent heavy chain; Complement C1s subcomponent light chain]
  • Length: 688  
  • Mass: 76684
• Sequence:

  MWCIVLFSLLAWVYAEPTMYGEILSPNYPQAYPSEVEKSWDIEVPEGYGIHLYFTHLDIELSENCAYDSVQIISG
  DTEEGRLCGQRSSNNPHSPIVEEFQVPYNKLQVIFKSDFSNEERFTGFAAYYVATDINECTDFVDVPCSHFCNNF
  IGGYFCSCPPEYFLHDDMKNCGVNCSGDVFTALIGEIASPNYPKPYPENSRCEYQIRLEKGFQVVVTLRREDFDV
  EAADSAGNCLDSLVFVAGDRQFGPYCGHGFPGPLNIETKSNALDIIFQTDLTGQKKGWKLRYHGDPMPCPKEDTP
  NSVWEPAKAKYVFRDVVQITCLDGFEVVEGRVGATSFYSTCQSNGKWSNSKLKCQPVDCGIPESIENGKVEDPES
  TLFGSVIRYTCEEPYYYMENGGGGEYHCAGNGSWVNEVLGPELPKCVPVCGVPREPFEEKQRIIGGSDADIKNFP
  WQVFFDNPWAGGALINEYWVLTAAHVVEGNREPTMYVGSTSVQTSRLAKSKMLTPEHVFIHPGWKLLEVPEGRTN
  FDNDIALVRLKDPVKMGPTVSPICLPGTSSDYNLMDGDLGLISGWGRTEKRDRAVRLKAARLPVAPLRKCKEVKV
  EKPTADAEAYVFTPNMICAGGEKGMDSCKGDSGGAFAVQDPNDKTKFYAAGLVSWGPQCGTYGLYTRVKNYVDWI
  MKTMQENSTPRED

• Structural information:
  • Protein Domains: (16..13-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (131..17-)
    (/note="EGF-lik-)
    (-)
    (175..29-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (292..35-)
    (/note="Sushi-1)
    (-)
  • Interpro: IPR035708  IPR000859  IPR001881  IPR000152  IPR018097   IPR009003  IPR001314  IPR035914  IPR035976  IPR000436  IPR001254  IPR033116  
  • Prosite: PS00010 PS01180 PS01187 PS50923 PS50240 PS00135
  • CDD: cd00033 cd00041 cd00190
  • PDB: 1ELV 1NZI 4J1Y 4LMF 4LOR 4LOS 4LOT 6F1C 6F1H
  • PDBsum: 1ELV 1NZI 4J1Y 4LMF 4LOR 4LOS 4LOT 6F1C 6F1H
  • STRING: ENSP00000385035
• Other Databases: GeneCards:  C1S  Malacards:  C1S

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0004252	serine-type endopeptidase activity	IDA	molecular function
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006958	complement activation, classical pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0072562	blood microparticle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05322	Systemic lupus erythematosus
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis

Diseases

Associated diseases	References
Ehlers-Danlos syndrome periodontal type	KEGG:H02240
Classic complement pathway component defects	KEGG:H00102
Ehlers-Danlos syndrome periodontal type	KEGG:H02240
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)