C1S (complement C1s)

2014-11-01  

Identity

HGNC
C1S
LOCATION
12p13.31
LOCUSID
716
ALIAS
EDSPD2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
246958532014TNT003, an inhibitor of the serine protease C1s, prevents complement activation induced by cold agglutinins.39
236503842013Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites.23
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
281048182017Structure and activation of C1, the complex initiating the classical pathway of the complement cascade.17
161698532005Elucidation of the substrate specificity of the C1s protease of the classical complement pathway.14
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
277458322016Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.11
180629082008Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene.10
262312092015C1q protein binds to the apoptotic nucleolus and causes C1 protease degradation of nucleolar proteins.10
205920212010Mapping surface accessibility of the C1r/C1s tetramer by chemical modification and mass spectrometry provides new insights into assembly of the human C1 complex.9

Citation

Dessen P

C1S (complement C1s)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61106/c1s