Property Summary

NCBI Gene PubMed Count 54
PubMed Score 41.25
PubTator Score 22.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (29)

Disease log2 FC p
astrocytoma 2.300 2.1e-02
esophageal adenocarcinoma 1.700 1.9e-02
cutaneous lupus erythematosus 3.600 4.9e-05
glioblastoma 3.700 1.7e-05
medulloblastoma, large-cell -2.000 2.0e-04
limb girdle muscular dystrophy 2I 1.494 5.5e-04
juvenile dermatomyositis 2.189 6.3e-08
acute quadriplegic myopathy 1.201 9.3e-05
adrenocortical carcinoma -1.712 7.0e-03
chronic kidney disease 1.100 4.8e-02
tuberculosis 2.100 5.4e-04
non-small cell lung cancer -1.877 3.0e-14
intraductal papillary-mucinous adenoma (... -1.700 2.0e-02
lung cancer -3.000 2.3e-06
interstitial cystitis 2.100 2.6e-03
group 4 medulloblastoma -1.400 7.5e-04
pilocytic astrocytoma 1.200 1.2e-04
primary Sjogren syndrome 1.200 2.6e-03
psoriasis 1.100 4.1e-13
subependymal giant cell astrocytoma 2.605 1.4e-02
invasive ductal carcinoma 2.565 2.3e-04
nasopharyngeal carcinoma 1.500 7.1e-04
lung adenocarcinoma -1.100 7.5e-03
lung carcinoma -2.500 2.6e-26
ulcerative colitis 1.400 3.7e-03
ovarian cancer 3.700 1.1e-05
Down syndrome 1.600 3.7e-02
dermatomyositis 1.700 1.9e-02
head and neck cancer and chronic obstruc... 1.500 7.6e-03

 OMIM Phenotype (1)

Gene RIF (40)

PMID Text
25817358 no significant association found to either rs15940 (C1QA) or rs172378 (C1QC) when analysed in just Parkinson disease cases , just controls or combined
24739385 PepO facilitates C1q-mediated bacterial adherence, whereas its localized release consumes complement as a result of its activation following binding of C1q, thus representing an additional mechanism of human complement escape by this versatile pathogen.
23720782 Data indicate that Cna binds to C1q.
23650384 Analysis of its interaction properties by surface plasmon resonance shows that rC1q retains the ability of serum C1q to associate with the C1s-C1r-C1r-C1s tetramer, to recognize physiological C1q ligands such as IgG and pentraxin 3
23607884 Single nucleotide polymorphisms in and around the C1q genes, C1qA, C1qB and C1qC, correlated with C1q serum levels and may be a risk for the development of rheumatoid arthritis.
22740328 We identified a major linear epitope of C1q that is the target of anti-C1q in systemic lupus erythematosus.
21951915 The susceptibility for schizophrenia was particularly associated with C1QB rs291982 GG genotype.
21862594 analysis of the molecular mechanisms for synchronized transcription of three complement C1q subunit genes (A, B and C) in dendritic cells and macrophages
21698244 a 2-gene signature consisting of PLEK2 and C1QB led to the best result that correctly classified 93.3% melanoma patients and 90% healthy controls
20528885 In a large family-based association study of C1Q gene cluster polymorphisms no evidence for a genetic role of C1Q locus SNP in systemic lupus erythematosus risk predisposition was obtained in patients of European ancestry.
20528885 Observational study of gene-disease association. (HuGE Navigator)
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20139276 Data show that C1q, C4, C3, and C9 bind to thrombin receptor-activating peptide-activated platelets in lepirudin-anticoagulated platelet-rich plasma (PRP) and whole blood.
19493541 Observational study of gene-disease association. (HuGE Navigator)
19423540 Observational study of gene-disease association. (HuGE Navigator)
19344414 Observational study of gene-disease association. (HuGE Navigator)
18505047 Observational study of gene-disease association. (HuGE Navigator)
18174230 Observational study of gene-disease association. (HuGE Navigator)
17513176 No C1q or low molecular weight C1q was detected in sera and no anti-C1q autoantibodies were found. Sequencing of the C1q genes revealed a novel missense mutation (Gly-Arg) in codon 217 of the B chain.
16566583 results suggest that charged residues belonging to the apex of the gC1q heterotrimer (with participation of all three chains) as well as the side of the ghB are crucial for C1q binding to ligands, IgG1, C-reactive protein, and pentraxin 3.
15709773 The first analysis of C1q by mass spectrometry yields evidence that the B chain moiety of the globular head is involved in the interaction with fucoidan and underscores the particular role of arginine-109 in the charge pattern recognition property of C1q.
15034050 Complementary interacting sites on the C1q globular domain have been precisely defined. Characterization of point mutants suggests a central role for Arg114 and a complementary role for Arg129, Arg163, and His117 of C1Q B chain in the C1q-IgG interaction.
12960167 The structure refined to 1.9 A of resolution of C1q reveals the conformation of subunits A, B, and C and their compact, almost spherical heterotrimeric assembly held together mainly by non-polar interactions, with a Ca2+ ion bound at the top.
12847249 The C-terminal globular region of the C1Q B chain may have evolved as a functionally specialized domain or module with distinct binding properties which together with the A and C chains confers versatility and flexibility to the whole C1q molecule.
12645945 Experiments with recombinant globular head domains of human C1q A, B, and C chains indicated that C1q interacts with PTX3 via its globular head region. Binding of C1q to immobilized PTX3 induced activation of the classical complement pathway.
12396016 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
11318594 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
10504397 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
9780209 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
9443108 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
8252810 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
8245486 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
7739575 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
7642209 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
7507842 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
1875953 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese
1744579 The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese

AA Sequence

MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGD      1 - 70
HGEFGEKGDPGIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTI     71 - 140
RFDHVITNMNNNYEPRSGKFTCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTG    141 - 210
GMVLKLEQGENVFLQATDKNSLLGMEGANSIFSGFLLFPDMEA                               211 - 253
//

Text Mined References (57)

PMID Year Title
26410546 2015 Fundamental role of C1q in autoimmunity and inflammation.
26175731 2015 Emerging and Novel Functions of Complement Protein C1q.
25817358 2015 Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease.
24739385 2014 Binding of Streptococcus pneumoniae endopeptidase O (PepO) to complement component C1q modulates the complement attack and promotes host cell adherence.
23720782 2013 Collagen-binding microbial surface components recognizing adhesive matrix molecule (MSCRAMM) of Gram-positive bacteria inhibit complement activation via the classical pathway.
23650384 2013 Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites.
23607884 2013 Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22740328 2012 Identification of a major linear C1q epitope allows detection of systemic lupus erythematosus anti-C1q antibodies by a specific peptide-based enzyme-linked immunosorbent assay.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
21951915 2011 Association of C1QB gene polymorphism with schizophrenia in Armenian population.
21862594 2011 Molecular mechanisms for synchronized transcription of three complement C1q subunit genes in dendritic cells and macrophages.
21698244 2011 Transcriptome profiling of whole blood cells identifies PLEK2 and C1QB in human melanoma.
21054788 2010 CD91 interacts with mannan-binding lectin (MBL) through the MBL-associated serine protease-binding site.
20528885 2010 Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20139276 2010 Complement component C3 binds to activated normal platelets without preceding proteolytic activation and promotes binding to complement receptor 1.
19493541 2009 Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19344414 2009 Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.
18505047 2008 PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus.
18174230 2008 Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
17513176 2007 C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16566583 2006 Interaction of C1q with IgG1, C-reactive protein and pentraxin 3: mutational studies using recombinant globular head modules of human C1q A, B, and C chains.
15709773 2005 Mass spectrometry analysis of the oligomeric C1q protein reveals the B chain as the target of trypsin cleavage and interaction with fucoidan.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15034050 2004 Mutational analyses of the recombinant globular regions of human C1q A, B, and C chains suggest an essential role for arginine and histidine residues in the C1q-IgG interaction.
12960167 2003 The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties.
12847249 2003 Modular organization of the carboxyl-terminal, globular head region of human C1q A, B, and C chains.
12645945 2003 Biochemical and functional characterization of the interaction between pentraxin 3 and C1q.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10882776 2000 Expression of complement messenger RNAs by human endothelial cells.
10471215 1999 C1qB and clusterin mRNA increase in association with neurodegeneration in sporadic amyotrophic lateral sclerosis.
9777412 1998 Molecular basis of hereditary C1q deficiency.
9476130 1997 Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects.
9444979 1997 Defensins purified from human granulocytes bind C1q and activate the classical complement pathway like the transmembrane glycoprotein gp41 of HIV-1.
9184145 1997 Histidine-rich glycoprotein binds to human IgG and C1q and inhibits the formation of insoluble immune complexes.
7939135 1994 Expression of the components and regulatory proteins of the classical pathway of complement in normal and diseased synovium.
6981411 1982 Completion of the amino acid sequences of the A and B chains of subcomponent C1q of the first component of human complement.
6286235 1981 Comparable content of hydroxylysine-linked glycosides in subcomponents C1q of the first component of human, bovine and mouse complement.
6208566 1984 Cloning and characterization of the complementary DNA for the B chain of normal human serum C1q.
3180845 1988 Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.
3000358 1985 Molecular cloning and characterization of the complementary DNA and gene coding for the B-chain of subcomponent C1q of the human complement system.
2894352 1988 A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.
1706597 1991 Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.
1537612 1992 Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3.
1370572 1992 A calcium-binding monoclonal antibody that recognizes a non-calcium-binding epitope in the short consensus repeat units (SCRs) of complement C1r.
1249422 1976 Activation of C1r by proteolytic cleavage.
814163 1976 Physicochemical and functional characterization of the C1r subunit of the first complement component.
708376 1978 Amino acid sequence of the N-terminal 108 amino acid residues of the B chain of subcomponent C1q of the first component of human complement.
486087 1979 Complete amino acid sequences of the three collagen-like regions present in subcomponent C1q of the first component of human complement.
7240 1976 Isolation, by partial pepsin digestion, of the three collagen-like regions present in subcomponent Clq of the first component of human complement.