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C1QC Gene(Protein Coding)

Complement C1q C Chain

GCID:
GC01P022643
GIFtS:
55
Genes Participants
UDN Logo

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 Creation of C4 and C2 activators and Toll-like receptor signaling pathway. 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for C1QC Gene

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
GH01I022643 Promoter 0.7 EPDnew 550.8 0.0 -11 0.1 MAFG MAFK EMSY C1QC C1QA
GH01I022412 Enhancer 1.2 Ensembl ENCODE 11.9 -229.8 -229805 2.6 PKNOX1 CLOCK ATF1 FOXA2 MLX ARID4B NEUROD1 SIN3A ZNF48 YY1 C1QC C1QA LACTBL1 ZBTB40 LOC105376856 ENSG00000279625
GH01I022416 Enhancer 1.1 Ensembl ENCODE 11.9 -226.9 -226879 0.5 ATF1 ARID4B SIN3A ZNF2 ZNF48 ARID2 ZNF143 ATF7 KLF13 DEK C1QA C1QC LACTBL1 LOC105376856 ENSG00000279625
GH01I023548 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.1 +905.4 905425 0.9 HDAC1 BCOR HDGF ZBTB6 ZMYM3 NFXL1 ZFHX2 CTBP1 EGR1 PHF20 ZNF436-AS1 TCEA3 C1QC LOC105376859 E2F2
GH01I022851 Enhancer 0.2 FANTOM5 2.2 +208.1 208074 0.2 C1QA C1QB C1QC ENSG00000225952 MIR4253 EPHB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1QC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1QC gene promoter:

Genomic Locations for C1QC Gene

Genomic Locations for C1QC Gene
chr1:22,643,625-22,648,110
(GRCh38/hg38)
Size:
4,486 bases
Orientation:
Plus strand
chr1:22,970,118-22,974,603
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for C1QC Gene

Proteins for C1QC Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for C1QC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

Other Protein References for C1QC Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 --
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

Animal Model Products

Clone Products

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)
  • Vesicles (1)
See all subcellular structures

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,IDA 22664934
GO:0070062 extracellular exosome HDA,IDA 23376485
GO:0072562 blood microparticle HDA,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

Products:

  1. Drug

(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 521
Alefacept Approved, Investigational, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 319
Basiliximab Approved, Investigational Pharma Target 140
genes like me logo Genes that share compounds with C1QC: view

Transcripts for C1QC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for C1QC Gene

(4) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(507) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C1QC Gene

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

Clone Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for C1QC Gene
mRNA expression by BioGPS for C1QC GenemRNA expression by GTEx 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

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

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 Variation AA Info Type
rs200206736 pathogenic, C1q deficiency, Complement component C1q deficiency (C1QD) [MIM:613652] 22,644,123(+) G/A coding_sequence_variant, missense_variant
rs377549148 pathogenic, C1q deficiency 22,647,250(+) C/T coding_sequence_variant, stop_gained
rs752596663 pathogenic, C1q deficiency 22,647,535(+) G/A coding_sequence_variant, missense_variant
rs761681612 pathogenic, C1q deficiency 22,647,256(+) CCC/CC coding_sequence_variant, frameshift
rs1000071806 -- 22,642,776(+) C/A upstream_transcript_variant

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

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

Disorders for C1QC Gene

MalaCards: The human disease database

(8) MalaCards diseases for C1QC Gene - From: HGMD, OMIM, ClinVar, GTR, 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 c1, c4, or c2 component complement deficiency
glomerulonephritis
  • bright's disease
lupus erythematosus
  • systemic lupus erythematosus
rothmund-thomson syndrome
  • rts
- 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.

Additional Disease Information for C1QC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 44 58
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  4. 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 44 58
  5. 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 44 58

Products for C1QC Gene

Sources for C1QC Gene

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