C1S (complement C1s)

2014-11-01  

Identity

HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
EDSPD2
FUSION GENES

Other Information

Locus ID:

NCBI: 716
MIM: 120580
HGNC: 1247
Ensembl: ENSG00000182326

Variants:

dbSNP: 716
ClinVar: 716
TCGA: ENSG00000182326
COSMIC: C1S

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182326ENST00000328916P09871
ENSG00000182326ENST00000360817P09871
ENSG00000182326ENST00000402681F8WCZ6
ENSG00000182326ENST00000403949B5MCV4
ENSG00000182326ENST00000406697P09871
ENSG00000182326ENST00000413211C9IZP8
ENSG00000182326ENST00000423384C9JY52
ENSG00000182326ENST00000443875H0Y5D1
ENSG00000182326ENST00000542978F5H7T4
ENSG00000182326ENST00000617865A0A087X232

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
PertussisKEGGko05133
PertussisKEGGhsa05133
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Creation of C4 and C2 activatorsREACTOMER-HSA-166786
Classical antibody-mediated complement activationREACTOMER-HSA-173623

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382180802024Cytoprotective effects of C1s enzyme in macrophages in atherosclerosis mediated through the LRP5 and Wnt/β-catenin pathway.0
382180802024Cytoprotective effects of C1s enzyme in macrophages in atherosclerosis mediated through the LRP5 and Wnt/β-catenin pathway.0
369600562023Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.2
372098072023A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease.0
369600562023Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.2
372098072023A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease.0
338046662021The Impact of Complement Genes on the Risk of Late-Onset Alzheimer's Disease.11
341551152021C1q binding to surface-bound IgG is stabilized by C1r(2)s(2) proteases.21
338046662021The Impact of Complement Genes on the Risk of Late-Onset Alzheimer's Disease.11
341551152021C1q binding to surface-bound IgG is stabilized by C1r(2)s(2) proteases.21
319212032019Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.6
319212032019Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.6
281048182017Structure and activation of C1, the complex initiating the classical pathway of the complement cascade.58
281048182017Structure and activation of C1, the complex initiating the classical pathway of the complement cascade.58
277458322016Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.38

Citation

Dessen P

C1S (complement C1s)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61106/c1s-(complement-c1s)