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Aliases for C1QC Gene

Aliases for C1QC Gene

  • Complement C1q C Chain 2 3 5
  • Complement Component 1, Q Subcomponent, Gamma Polypeptide 2 3
  • Complement Component 1, Q Subcomponent, C Chain 2 3
  • C1QG 3 4
  • Complement C1q Subcomponent Subunit C 3
  • C1Q-C 3

External Ids for C1QC Gene

Previous HGNC Symbols for C1QC Gene

  • C1QG

Previous GeneCards Identifiers for C1QC Gene

  • GC01P022842
  • GC01P022970
  • GC01P021214

Summaries for C1QC Gene

Entrez Gene Summary for C1QC 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]

GeneCards Summary for C1QC Gene

C1QC (Complement C1q C Chain) is a Protein Coding gene. Diseases associated with C1QC include C1q Deficiency and Immunodeficiency Due To A Classical Component Pathway Complement Deficiency. Among its related pathways are Complement Pathway and Staphylococcus aureus infection. An important paralog of this gene is C1QB.

UniProtKB/Swiss-Prot for C1QC Gene

  • C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

Additional gene information for C1QC Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1QC Gene

Genomics for C1QC Gene

Regulatory Elements for C1QC Gene

Enhancers for C1QC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H022412 1.3 Ensembl ENCODE 11.9 -229.8 -229806 2 PKNOX1 FOXA2 ATF1 MLX ARID4B SIN3A YY1 ZNF121 ATF7 SP5 C1QC C1QA LACTBL1 ZBTB40 LOC105376856 ENSG00000279625
GH01H022416 1.2 Ensembl ENCODE 11.9 -226.9 -226880 0 ATF1 ARID4B ZNF2 ZNF143 ATF7 DEK SP5 REST MIER2 KAT8 C1QA C1QC LACTBL1 LOC105376856 ENSG00000279625
GH01H023548 1.2 Ensembl ENCODE dbSUPER 5.1 +905.4 905426 0 BCOR HDGF MAX ZMYM3 NFXL1 ZFHX2 CTBP1 EGR1 ZNF143 SMARCA5 ZNF436-AS1 TCEA3 C1QC LOC105376859 E2F2
GH01H022851 0.3 FANTOM5 2.2 +208.1 208075 0 C1QA C1QB C1QC MIR4253 ENSG00000225952
GH01H022636 0.5 Ensembl 0.4 -6.7 -6725 0 CTCF CUX1 ZIC2 C1QA C1QC
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C1QC on UCSC Golden Path with GeneCards custom track

Genomic Location for C1QC Gene

Chromosome:
1
Start:
22,643,625 bp from pter
End:
22,648,110 bp from pter
Size:
4,486 bases
Orientation:
Plus strand

Genomic View for C1QC Gene

Genes around C1QC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QC Gene

Proteins for C1QC Gene

  • Protein details for C1QC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02747-C1QC_HUMAN
    Recommended name:
    Complement C1q subcomponent subunit C
    Protein Accession:
    P02747
    Secondary Accessions:
    • Q7Z502
    • Q96DL2
    • Q96H05

    Protein attributes for C1QC Gene

    Size:
    245 amino acids
    Molecular mass:
    25774 Da
    Quaternary structure:
    • C1 is a calcium-dependent trimolecular complex of C1q, R and S in the molar ration of 1:2:2. C1q subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and three of which are disulfide-linked dimers of the C chain.

    Three dimensional structures from OCA and Proteopedia for C1QC Gene

neXtProt entry for C1QC Gene

Post-translational modifications for C1QC Gene

  • O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups.
  • Glycosylation at posLast=7575
  • Modification sites at PhosphoSitePlus

Other Protein References for C1QC Gene

No data available for DME Specific Peptides for C1QC Gene

Domains & Families for C1QC Gene

Gene Families for C1QC Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for C1QC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1QC: view

No data available for UniProtKB/Swiss-Prot for C1QC Gene

Function for C1QC Gene

Molecular function for C1QC Gene

UniProtKB/Swiss-Prot Function:
C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

Gene Ontology (GO) - Molecular Function for C1QC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
genes like me logo Genes that share ontologies with C1QC: view
genes like me logo Genes that share phenotypes with C1QC: view

Human Phenotype Ontology for C1QC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C1QC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C1QC Gene

Localization for C1QC Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QC Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1QC gene
Compartment Confidence
extracellular 5
nucleus 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for C1QC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 22664934
GO:0070062 extracellular exosome IDA 23376485
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with C1QC: view

Pathways & Interactions for C1QC Gene

genes like me logo Genes that share pathways with C1QC: view

Gene Ontology (GO) - Biological Process for C1QC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006955 immune response NAS 9777412
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS,IEA --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with C1QC: view

No data available for SIGNOR curated interactions for C1QC Gene

Drugs & Compounds for C1QC Gene

(30) Drugs for C1QC Gene - From: DrugBank, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma Target 65
Adalimumab Approved Pharma Target 512
Alefacept Approved, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 316
Basiliximab Approved, Investigational Pharma Target 140
genes like me logo Genes that share compounds with C1QC: view

Transcripts for C1QC Gene

Unigene Clusters for C1QC Gene

Complement component 1, q subcomponent, C chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for C1QC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for C1QC Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b
SP1: - -
SP2: - - - -
SP3:
SP4: -
SP5:

Relevant External Links for C1QC Gene

GeneLoc Exon Structure for
C1QC
ECgene alternative splicing isoforms for
C1QC

Expression for C1QC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1QC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1QC Gene

This gene is overexpressed in Spleen (x12.4).

Protein differential expression in normal tissues from HIPED for C1QC Gene

This gene is overexpressed in Synovial fluid (13.7), Plasma (12.1), and Serum (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C1QC Gene



Protein tissue co-expression partners for C1QC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C1QC Gene:

C1QC

SOURCE GeneReport for Unigene cluster for C1QC Gene:

Hs.467753

Evidence on tissue expression from TISSUES for C1QC Gene

  • Nervous system(4.5)
  • Blood(4.2)
  • Lung(3.1)
  • Spleen(2.9)
  • Liver(2.3)
  • Lymph node(2.3)
  • Intestine(2.1)
  • Adrenal gland(2)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • scalp
  • thyroid
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with C1QC: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for C1QC Gene

Orthologs for C1QC Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1QC 33 34
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia C1QC 33 34
  • 85.31 (n)
cow
(Bos Taurus)
Mammalia C1QC 33 34
  • 83.56 (n)
rat
(Rattus norvegicus)
Mammalia C1qc 33
  • 79.19 (n)
mouse
(Mus musculus)
Mammalia C1qc 33 16 34
  • 78.88 (n)
oppossum
(Monodelphis domestica)
Mammalia C1QC 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
OneToMany
-- 34
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves C1QC 33
  • 64.49 (n)
zebrafish
(Danio rerio)
Actinopterygii c1qc 33 34
  • 54.63 (n)
Species where no ortholog for C1QC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1QC Gene

ENSEMBL:
Gene Tree for C1QC (if available)
TreeFam:
Gene Tree for C1QC (if available)

Paralogs for C1QC Gene

(11) SIMAP similar genes for C1QC Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with C1QC: view

Variants for C1QC Gene

Sequence variations from dbSNP and Humsavar for C1QC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs200206736 Complement component C1q deficiency (C1QD) [MIM:613652] 22,644,123(+) GCTAC(A/G)GGATC intron-variant, reference, missense
rs1000071806 -- 22,642,776(+) GCACC(A/C)CCAGG upstream-variant-2KB
rs1000735542 -- 22,645,185(+) CATTC(C/T)AGAAG intron-variant
rs1000742008 -- 22,643,023(+) CTGCC(A/G)CCAAA upstream-variant-2KB
rs1001879721 -- 22,647,919(+) GCCCA(C/T)CCTGA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for C1QC Gene

Variant ID Type Subtype PubMed ID
esv34161 CNV loss 18971310
nsv473644 CNV novel sequence insertion 20440878

Variation tolerance for C1QC Gene

Residual Variation Intolerance Score: 26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C1QC Gene

Human Gene Mutation Database (HGMD)
C1QC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QC Gene

Disorders for C1QC Gene

MalaCards: The human disease database

(9) MalaCards diseases for C1QC Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
c1q deficiency
  • c1qd
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to a c1, c4, or c2 component complement deficiency
glomerulonephritis
  • bright's disease
lupus erythematosus
  • systemic lupus erythematosus
rothmund-thomson syndrome
  • congenital poikiloderma
- elite association - COSMIC cancer census association via MalaCards
Search C1QC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1QC_HUMAN
  • Complement component C1q deficiency (C1QD) [MIM:613652]: A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. {ECO:0000269 PubMed:8630118}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C1QC

Genetic Association Database (GAD)
C1QC
Human Genome Epidemiology (HuGE) Navigator
C1QC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C1QC
genes like me logo Genes that share disorders with C1QC: view

No data available for Genatlas for C1QC Gene

Publications for C1QC Gene

  1. 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. (PMID: 1706597) Sellar GC … Reid KB (The Biochemical journal 1991) 2 3 4 60
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 45 60
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 45 60
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  5. Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PMID: 20528885) Rafiq S … Eggleton P (Clinical and experimental immunology 2010) 3 45 60

Products for C1QC Gene

Sources for C1QC Gene

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