C1QC
Complement C1q subcomponent subunit C
Also known as: C1QC_HUMAN, C1QG
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P02747
- Gene
- C1QC
- Ensembl
- ENSG00000159189
- Chromosome
- 1
- Canonical length
- 245 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
- Secretome location
- Secreted to blood
OverviewNCBI Gene
This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
Canonical amino-acid sequenceUniProt
245 residues, UniProt reviewed canonical sequence.
>P02747|C1QC
1 MDVGPSSLPH LGLKLLLLLL LLPLRGQANT GCYGIPGMPG LPGAPGKDGY DGLPGPKGEP
61 GIPAIPGIRG PKGQKGEPGL PGHPGKNGPM GPPGMPGVPG PMGIPGEPGE EGRYKQKFQS
121 VFTVTRQTHQ PPAPNSLIRF NAVLTNPQGD YDTSTGKFTC KVPGLYYFVY HASHTANLCV
181 LLYRSGVKVV TFCGHTSKTN QVNSGGVLLR LQVGEEVWLA VNDYYDMVGI QGSDSVFSGF
241 LLFPDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against C1QC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 893 nTPM
Expression across tissuesHPA
Tissue
- spleen: 893 nTPM
- lymph node: 345 nTPM
- lung: 273 nTPM
- adipose tissue: 266 nTPM
- placenta: 192 nTPM
- adrenal gland: 184 nTPM
Single-cell type
- kupffer cells: 3,478 nCPM
- hofbauer cells: 2,312 nCPM
- macrophages: 1,291 nCPM
- microglia: 326 nCPM
- cdc: 252 nCPM
- monocytes: 186 nCPM
Immune cell
- intermediate monocyte: 57 nTPM
- non-classical monocyte: 10 nTPM
- classical monocyte: 1.3 nTPM
- total PBMC: 1.2 nTPM
- neutrophil: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- white matter: 294 nTPM
- medulla oblongata: 219 nTPM
- thalamus: 182 nTPM
- pons: 180 nTPM
- spinal cord: 168 nTPM
- choroid plexus: 150 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about C1QC.
Disease | AllUniProt
Conditions C1QC is implicated in, by any mechanism.
- C1q deficiency 3 (C1QD3) MIM:620322
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 178 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Disease | ImmuneIEDB
Conditions an epitope on C1QC was assayed in.
- rheumatoid arthritis B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.09
- gnomAD pLI
- 0.05
- gnomAD missense Z
- 0.43
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- complement activation, classical pathway
- immune response
- innate immune response
- negative regulation of granulocyte differentiation
- negative regulation of macrophage differentiation
- synapse pruning
Molecular functions
Cellular components
- blood microparticle
- cell surface
- collagen trimer
- complement component C1 complex
- complement component C1q complex
- extracellular matrix
- extracellular region
- extracellular space
- extrinsic component of postsynaptic membrane
- extrinsic component of presynaptic membrane
- glutamatergic synapse
- postsynapse
- symbiont cell surface
- synapse
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads C1QC as an antibody target. Whether an autoantibody or antibody against C1QC could matter depends on whether native C1QC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
C1QC is annotated at the cell surface, where native C1QC is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label C1QC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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