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... See more...

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
  • Complement C1q Subcomponent Subunit C 3 4
  • C1QG 3 4
  • C1Q-C 3
  • C1QC 5

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 and coagulation cascades and Creation of C4 and C2 activators. An important paralog of this gene is C1QB.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QC Gene

Genomics for C1QC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1QC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J022643 Promoter 1 EPDnew Ensembl 250.7 +1.6 1560 3.2 MAFF MAFK MAFG GLIS1 POLR2A EMSY C1QC LACTBL1 C1QB C1QA MN308915
GH01J022412 Enhancer 1.1 Ensembl ENCODE 11.8 -230.1 -230060 3.1 ZMYM3 CEBPA JUND NFIC YY1 ZNF217 FOXA1 THAP11 ELF1 FOXA2 C1QA C1QC LACTBL1 ZBTB40 lnc-WNT4-1 LOC105376856 HSALNG0001584 WNT4
GH01J022416 Enhancer 1.1 Ensembl ENCODE 11.8 -226.7 -226732 1 ZNF654 KLF9 CEBPA REST KLF11 DEK TRIM22 CHD2 CTCF SIN3A C1QA C1QC LACTBL1 LOC105376856 lnc-WNT4-1 ZBTB40 HSALNG0001584 WNT4
GH01J023548 Enhancer 0.9 ENCODE dbSUPER 5.1 +905.4 905434 0.9 ZNF592 NFIC SP2 MAX BHLHE40 HDAC2 EGR1 ZBTB33 IKZF1 ATF2 ZNF436-AS1 TCEA3 C1QC lnc-ID3-2 HSALNG0001636 ENSG00000235052 ID3 E2F2 MG828730-001
GH01J022415 Enhancer 0.3 Ensembl 11.8 -227.9 -227932 0.6 ZNF121 C1QC C1QA LACTBL1 LOC105376856 lnc-WNT4-1 ZBTB40 HSALNG0001584 WNT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1QC

Top Transcription factor binding sites by QIAGEN in the C1QC gene promoter:
  • AhR
  • AML1a
  • Arnt
  • HEN1
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for C1QC Gene

Latest Assembly
chr1:22,643,633-22,648,110
(GRCh38/hg38)
Size:
4,478 bases
Orientation:
Plus strand

Previous Assembly
chr1:22,970,126-22,974,601
(GRCh37/hg19 by Entrez Gene)
Size:
4,476 bases
Orientation:
Plus strand

chr1:22,970,123-22,974,603
(GRCh37/hg19 by Ensembl)
Size:
4,481 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 Lys75
  • 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

Protein Domains for C1QC Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Complement C1q protein

Suggested Antigen Peptide Sequences for C1QC Gene

GenScript: Design optimal peptide antigens:
  • Complement C1q subcomponent subunit C (C1QC_HUMAN)
genes like me logo Genes that share domains with C1QC: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for C1QC Gene

Gene Ontology (GO) - Molecular Function for C1QC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28018340
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QC

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

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 HDA 22664934
GO:0045202 synapse ISS --
GO:0062023 collagen-containing extracellular matrix HDA 25037231
genes like me logo Genes that share ontologies with C1QC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1QC Gene

Pathways & Interactions for C1QC Gene

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

Pathways by source for C1QC Gene

1 GeneGo (Thomson Reuters) pathway for C1QC Gene
  • Immune response Classical complement pathway
2 Qiagen pathways for C1QC Gene
  • Classical Complement Pathway
  • Complement Pathway

SIGNOR curated interactions for C1QC Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for C1QC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006955 immune response NAS 9777412
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway IEA,TAS --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with C1QC: view

Drugs & Compounds for C1QC Gene

(11) Drugs for C1QC Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma Target VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2506
Cetuximab Approved Pharma Target, binder EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 902
Copper Approved, Investigational Pharma Target 276
Etanercept Approved, Investigational Pharma Target, ligand 468
Palivizumab Approved, Investigational Pharma Target 28
genes like me logo Genes that share compounds with C1QC: view

Transcripts for C1QC Gene

mRNA/cDNA for C1QC Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QC

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

Expression for C1QC Gene

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



Protein tissue co-expression partners for C1QC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1QC

SOURCE GeneReport for Unigene cluster for C1QC Gene:

Hs.467753

Evidence on tissue expression from TISSUES for C1QC Gene

  • Nervous system(4.6)
  • Blood(4.4)
  • Lung(3.4)
  • Spleen(3.3)
  • Liver(3)
  • Lymph node(3)
  • Intestine(2.6)
  • Heart(2.5)
  • Muscle(2.5)
  • Kidney(2.1)
  • Skin(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
Regions:
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

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 29 30
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C1QC 29 30
  • 85.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C1QC 29 30
  • 83.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C1qc 29
  • 79.19 (n)
Mouse
(Mus musculus)
Mammalia C1qc 29 16 30
  • 78.88 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1QC 30
  • 67 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 62 (a)
OneToMany
-- 30
  • 53 (a)
OneToMany
Chicken
(Gallus gallus)
Aves C1QC 29
  • 64.49 (n)
Zebrafish
(Danio rerio)
Actinopterygii c1qc 29 30
  • 54.63 (n)
OneToOne
Species where no ortholog for C1QC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for C1QC: view image
Alliance of Genome Resources:
Additional Orthologs for C1QC

Paralogs for C1QC Gene

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

  • C1QC_HUMAN
genes like me logo Genes that share paralogs with C1QC: view

Variants for C1QC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1QC Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1030316 Uncertain Significance: C1q deficiency 22,647,583(+) G/A
NM_172369.5(C1QC):c.538G>A (p.Val180Met)
MISSENSE
rs1557603993 Uncertain Significance: C1q deficiency 22,644,042(+) TC/AA
NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)
MISSENSE_VARIANT,INTRON
rs200206736 Pathogenic: C1q deficiency; not provided. Complement component C1q deficiency (C1QD) [MIM:613652] 22,644,123(+) G/Ap.Gly34Arg
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)
MISSENSE_VARIANT,INTRON
rs371546823 Likely Benign: not provided 22,644,042(+) T/A
NM_172369.5(C1QC):c.19T>A (p.Ser7Thr)
MISSENSE_VARIANT,INTRON
rs377290060 Likely Benign: not provided 22,644,043(+) C/A
NM_172369.5(C1QC):c.20C>A (p.Ser7Tyr)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1QC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for C1QC Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for C1QC Gene

MalaCards: The human disease database

(7) MalaCards diseases for C1QC Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
c1q deficiency
  • c1qd
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to c1, c4, or c2 component complement deficiency
lupus erythematosus
  • lupus
glomerulonephritis
  • bright's disease
systemic lupus erythematosus
  • sle
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for C1QC

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C1QC: view

No data available for Genatlas for C1QC Gene

Publications for C1QC Gene

  1. Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. (PMID: 8630118) Slingsby JH … Walport MJ (Arthritis and rheumatism 1996) 3 4 72
  2. 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
  3. 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 40
  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 40
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 40

Products for C1QC Gene

Sources for C1QC Gene