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    C1QC complement component 1, q subcomponent, C chain [ Homo sapiens (human) ]

    Gene ID: 714, updated on 18-May-2013
    Official Symbol
    C1QCprovided by HGNC
    Official Full Name
    complement component 1, q subcomponent, C chainprovided by HGNC
    Primary source
    HGNC:1245
    See related
    Ensembl:ENSG00000159189; HPRD:00395; MIM:120575; Vega:OTTHUMG00000002891
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1QG; C1Q-C
    Summary
    This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. A deficiency in C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N-terminus, and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Location :
    1p36.11
    Sequence :
    Chromosome: 1; NC_000001.10 (22970118..22974603)
    See C1QC in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene EPH receptor A8 Neighboring gene complement component 1, q subcomponent, A chain Neighboring gene complement component 1, q subcomponent, B chain Neighboring gene microRNA 4684 Neighboring gene EPH receptor B2

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Fibronectin, which is present in submandibular saliva, binds to HIV-1 gp120/160 and enhances the interaction of C1q with gp120/160 PubMed
    env Free C1q binds to HIV-1 gp120; digestion of the C1q stem portion with collagenase completely eliminates its binding to recombinant gp120, suggesting that the collagen-like stem region of C1q participates in the binding to gp120 PubMed
    Envelope transmembrane glycoprotein gp41 env 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 PubMed
    env HIV-1 gp41 (amino acid residues 561-575, 591-605 and 601-620) binds to complement C1q and activates the C1 complex in a dose- and time-dependent manner PubMed
    env Three sites (amino acids 526-538, 590-613 and 625-655) of the cell-external part of HIV-1 gp41 bind both HIV-1 gp120 and C1q PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    P02747 P02745 C1QA    HPRD  PubMed  
    P02747 P02746 C1QB    HPRD  PubMed  
    P02747 P26885 FKBP2    HPRD  PubMed  
    P02747 P26022 PTX3    HPRD  PubMed  
    BioGRID:107175 BioGRID:106832 APOA1    BioGRID  PubMed Affinity Capture-MS 
    • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Classical antibody-mediated complement activation, organism-specific biosystem (from REACTOME)
      Classical antibody-mediated complement activation, organism-specific biosystemC1, the first component of complement is a complex containing three protein species, C1q, C1r, and C1s. C1q is assembled from six identical subunits each of which consists of three homologous chains ...
    • Complement Activation, Classical Pathway, organism-specific biosystem (from WikiPathways)
      Complement Activation, Classical Pathway, organism-specific biosystemThe complement system is a biochemical cascade that helps, or ???complements???, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immun...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement cascade, organism-specific biosystem (from REACTOME)
      Complement cascade, organism-specific biosystemThe complement system is a biochemical cascade, so named because it 'complements' the ability of antibodies to clear pathogens. It is part of the innate immune system. Complement system proteins circ...
    • Creation of C4 and C2 activators, organism-specific biosystem (from REACTOME)
      Creation of C4 and C2 activators, organism-specific biosystemTwo pathways lead to a complex capable of activating C4 and C2. The classical pathway is triggered by activation of the C1-complex (C1q, 2X C1r and 2X C1s, thus forming C1qr2s2). This occurs when C...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Initial triggering of complement, organism-specific biosystem (from REACTOME)
      Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Pertussis, organism-specific biosystem (from KEGG)
      Pertussis, organism-specific biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Pertussis, conserved biosystem (from KEGG)
      Pertussis, conserved biosystemPertussis, also known as whooping cough, is an acute respiratory infectious disease caused by a bacteria called Bordetella Pertussis. The characteristic symptoms are paroxysmal cough, inspiratory whe...
    • Prion diseases, organism-specific biosystem (from KEGG)
      Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
    • Prion diseases, conserved biosystem (from KEGG)
      Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
    • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
      Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Staphylococcus aureus infection, conserved biosystem (from KEGG)
      Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
      Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
    • Systemic lupus erythematosus, conserved biosystem (from KEGG)
      Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...

    Markers

    Potential readthrough

    Included gene: C1QA

    Homology

    Clone Names

    • FLJ27103

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    complement activation TAS
    Traceable Author Statement
    more info
     
    complement activation, classical pathway TAS
    Traceable Author Statement
    more info
     
    immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    innate immune response TAS
    Traceable Author Statement
    more info
     
    negative regulation of granulocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    complement C1q subcomponent subunit C
    Names
    complement C1q subcomponent subunit C
    complement component 1, q subcomponent, gamma polypeptide

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007565.1 RefSeqGene

      Range
      5001..9486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_24

    mRNA and Protein(s)

    1. NM_001114101.1NP_001107573.1  complement C1q subcomponent subunit C precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC009016, BG060138, CB995661
      Consensus CDS
      CCDS227.1
      UniProtKB/Swiss-Prot
      P02747
      Related
      ENSP00000363770, OTTHUMP00000002932, ENST00000374639, OTTHUMT00000008083
      Conserved Domains (1) summary
      smart00110
      Location:113245
      Blast Score: 463
      C1Q; Complement component C1q domain.
    2. NM_172369.3NP_758957.2  complement C1q subcomponent subunit C precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC009016, BG060138, CB995661, DA849505
      Consensus CDS
      CCDS227.1
      UniProtKB/Swiss-Prot
      P02747
      Related
      ENSP00000363771, OTTHUMP00000037922, ENST00000374640, OTTHUMT00000096530
      Conserved Domains (1) summary
      smart00110
      Location:113245
      Blast Score: 463
      C1Q; Complement component C1q domain.

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p10 Primary Assembly

      Range
      22970118..22974603
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      21214476..21218943
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018912.1 Alternate CHM1_1.0

      Range
      23182520..23187004
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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