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    C1QB complement C1q B chain [ Homo sapiens (human) ]

    Gene ID: 713, updated on 7-Jul-2019

    Summary

    Official Symbol
    C1QBprovided by HGNC
    Official Full Name
    complement C1q B chainprovided by HGNC
    Primary source
    HGNC:HGNC:1242
    See related
    Ensembl:ENSG00000173369 MIM:120570
    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
    Summary
    This gene encodes the B-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]
    Expression
    Broad expression in spleen (RPKM 482.2), lymph node (RPKM 181.6) and 15 other tissues See more
    Orthologs

    Genomic context

    See C1QB in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (22653191..22661637)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22979682..22988130)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement C1q A chain Neighboring gene complement C1q C chain Neighboring gene EPH receptor B2 Neighboring gene microRNA 4684 Neighboring gene microRNA 4253

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    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 Interaction Database

    Pathways from BioSystems

    • 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, organism-specific biosystem (from WikiPathways)
      Complement Activation, 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 immune syst...
    • 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 biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
    • 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, which consists of hexameric molecule C1q and a tetramer comprising t...
    • 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 ...
    • Spinal Cord Injury, organism-specific biosystem (from WikiPathways)
      Spinal Cord Injury, organism-specific biosystemThis pathway provides an overview of cell types, therapeutic targets, drugs, new proposed targets and pathways implicated in spinal cord injury. Spinal cord injury is a complex multistep process that...
    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    complement activation TAS
    Traceable Author Statement
    more info
     
    complement activation, classical pathway TAS
    Traceable Author Statement
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    synapse pruning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    blood microparticle HDA PubMed 
    cell ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    collagen-containing extracellular matrix HDA PubMed 
    complement component C1 complex TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    postsynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    complement C1q subcomponent subunit B
    Names
    complement C1q chain B
    complement component 1, q subcomponent, B chain
    complement component 1, q subcomponent, beta polypeptide
    complement component C1q, B chain
    complement subcomponent C1q chain B

    NCBI Reference Sequences (RefSeq)

    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_007283.1 RefSeqGene

      Range
      5001..13348
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_23

    mRNA and Protein(s)

    1. NM_000491.5NP_000482.3  complement C1q subcomponent subunit B precursor

      See identical proteins and their annotated locations for NP_000482.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL158086
      Consensus CDS
      CCDS228.1
      UniProtKB/Swiss-Prot
      P02746
      UniProtKB/TrEMBL
      A0A024RAB9
      Related
      ENSP00000423689.1, ENST00000509305.6
      Conserved Domains (2) summary
      smart00110
      Location:115250
      C1Q; Complement component C1q domain
      pfam01391
      Location:3386
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_001371184.1NP_001358113.1  complement C1q subcomponent subunit B precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA838059, AI125081, BI489644, BQ711602, X03084

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      22653191..22661637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542059.2XP_011540361.1  complement C1q subcomponent subunit B isoform X1

      See identical proteins and their annotated locations for XP_011540361.1

      UniProtKB/Swiss-Prot
      P02746
      UniProtKB/TrEMBL
      A0A024RAB9
      Related
      ENSP00000404606.2, ENST00000432749.6
      Conserved Domains (2) summary
      smart00110
      Location:115250
      C1Q; Complement component C1q domain
      pfam01391
      Location:3386
      Collagen; Collagen triple helix repeat (20 copies)
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