C1R (complement C1r)

2016-10-01  

Identity

HGNC
C1R
LOCATION
12p13.31
LOCUSID
715
ALIAS
EDSPD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 715
MIM: 613785
HGNC: 1246
Ensembl: ENSG00000159403

Variants:

dbSNP: 715
ClinVar: 715
TCGA: ENSG00000159403
COSMIC: C1R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159403ENST00000535233F5H2D0
ENSG00000159403ENST00000536053B4DPQ0
ENSG00000159403ENST00000538050F5H1N6
ENSG00000159403ENST00000540242F5H6Y3
ENSG00000159403ENST00000540610F5H3A3
ENSG00000159403ENST00000541042F5GWL0
ENSG00000159403ENST00000543362F5H1V0
ENSG00000159403ENST00000543835F5H3N3
ENSG00000159403ENST00000647956A0A3B3ISR2
ENSG00000159403ENST00000649804A0A3B3ITU4

Expression (GTEx)

0
500
1000
1500
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
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
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
236503842013Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites.23
281048182017Structure and activation of C1, the complex initiating the classical pathway of the complement cascade.17
179969452008Revisiting the mechanism of the autoactivation of the complement protease C1r in the C1 complex: structure of the active catalytic region of C1r.15
114455892001Assembly and enzymatic properties of the catalytic domain of human complement protease C1r.11
277458322016Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.11
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
125552452003Association of the 3' UTR transcription factor LBP-1c/CP2/LSF polymorphism with late-onset Alzheimer's disease.8
200088342010Analysis of human C1q by combined bottom-up and top-down mass spectrometry: detailed mapping of post-translational modifications and insights into the C1r/C1s binding sites.8
201789902010Calcium-dependent conformational flexibility of a CUB domain controls activation of the complement serine protease C1r.7

Citation

Dessen P

C1R (complement C1r)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56517/c1r-(complement-c1r)