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

    Gene ID: 713, updated on 5-Mar-2024

    Summary

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    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; AllianceGenome:HGNC:1242
    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
    C1QD2
    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
    mouse all
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    Genomic context

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    See C1QB in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22653236..22661637)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22478246..22486577)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22979729..22988130)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement C1q A chain Neighboring gene complement C1q C chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23003627-23004149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23004182-23004720 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:23021074-23021574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:23021575-23022075 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23036019-23036304 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23043657-23044346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23049783-23050297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23063222-23063783 Neighboring gene EPH receptor B2 Neighboring gene microRNA 4684 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23066264-23066434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 355 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23082861-23083022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23117273-23117773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23118959-23119488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23136274-23136774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23136775-23137275 Neighboring gene Sharpr-MPRA regulatory region 697 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23154258-23154779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23163087-23164034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23176387-23176888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23176889-23177388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23179771-23180334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23180335-23180896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 403 Neighboring gene microRNA 4253

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance. Guo J, et al. Sci Rep, 2018 May 23. PMID 29795138, Free PMC Article
    2. C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations. Marquart HV, et al. Clin Immunol, 2007 Jul. PMID 17513176
    3. Mass spectrometry analysis of the oligomeric C1q protein reveals the B chain as the target of trypsin cleavage and interaction with fucoidan. Tissot B, et al. Biochemistry, 2005 Feb 22. PMID 15709773
    4. C1qB and clusterin mRNA increase in association with neurodegeneration in sporadic amyotrophic lateral sclerosis. Grewal RP, et al. Neurosci Lett, 1999 Aug 13. PMID 10471215
    5. Cloning and characterization of the complementary DNA for the B chain of normal human serum C1q. Reid KB, et al. Philos Trans R Soc Lond B Biol Sci, 1984 Sep 6. PMID 6208566

    See all (96) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
      Title: Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
    2. C1QA, C1QB, and GZMB are novel prognostic biomarkers of skin cutaneous melanoma relating tumor microenvironment.
      Title: C1QA, C1QB, and GZMB are novel prognostic biomarkers of skin cutaneous melanoma relating tumor microenvironment.
    3. Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids.
      Title: Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids.
    4. Activation of complement C1q and C3 in glomeruli might accelerate the progression of diabetic nephropathy: Evidence from transcriptomic data and renal histopathology.
      Title: Activation of complement C1q and C3 in glomeruli might accelerate the progression of diabetic nephropathy: Evidence from transcriptomic data and renal histopathology.
    5. C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.
      Title: C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.
    6. Clinical and prognostic significance of C1q deposition in IgAN patients-a retrospective study.
      Title: Clinical and prognostic significance of C1q deposition in IgAN patients-a retrospective study.
    7. C1Q polymorphisms are associated with systemic lupus erythematosus.
      Title: Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance.
    8. results suggested that four differentially expressed genes, Jun, Gal, Cd74, and C1qb, had the potential to serve as prognostic or predictive markers for neuropathic pain, suggesting a potential application in the improvement of prognostic tools and treatments.
      Title: Jun, Gal, Cd74, and C1qb as potential indicator for neuropathic pain.
    9. The C allele at the rs631090 locus of C1q, the G allele at 1525A/G site of TRAIL, and the G allele of Tim-1 at -1454G/A site are susceptibility variants associated with SLE. the frequency of the T allele at the rs631090 locus in the study group was lower than that in the controls, and the frequency of the C allele was higher in the study group than in the healthy donors.
      Title: Association Between C1q, TRAIL, and Tim-1 Gene Polymorphisms and Systemic Lupus Erythematosus.
    10. C1QB expression is significantly upregulated in human masticatory mucosa during wound healing
      Title: Human gingiva transcriptome during wound healing.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    C1Q deficiency 2
    MedGen: C5830422 OMIM: 620321 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in complement activation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in complement activation, classical pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in complement activation, classical pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in synapse pruning ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in collagen-containing extracellular matrix HDA PubMed 
    part_of complement component C1 complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of complement component C1q complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in postsynapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    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)

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    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_000491.5 → NP_000482.3  complement C1q subcomponent subunit B isoform 1 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
      UniProtKB/Swiss-Prot
      P02746, Q5T959, Q96H17
      UniProtKB/TrEMBL
      A0A024RAB9, A0A3B0J0A0, A0A8Q3SI33
      Conserved Domains (2) summary
      smart00110
      Location:115 → 250
      C1Q; Complement component C1q domain
      pfam01391
      Location:33 → 86
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_001371184.3 → NP_001358113.2  complement C1q subcomponent subunit B isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 2
      Source sequence(s)
      AA838059, AI125081, BI489644, BQ711602, X03084
      Consensus CDS
      CCDS90878.1
      UniProtKB/TrEMBL
      A0A8Q3SI33, D6R934
      Related
      ENSP00000404606.2, ENST00000432749.6
      Conserved Domains (2) summary
      smart00110
      Location:113 → 248
      C1Q; Complement component C1q domain
      pfam01391
      Location:37 → 86
      Collagen; Collagen triple helix repeat (20 copies)

    3. NM_001378156.1 → NP_001365085.1  complement C1q subcomponent subunit B isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AL158086
      Consensus CDS
      CCDS90878.1
      UniProtKB/TrEMBL
      A0A8Q3SI33, D6R934
      Related
      ENSP00000423689.1, ENST00000509305.6
      Conserved Domains (2) summary
      smart00110
      Location:113 → 248
      C1Q; Complement component C1q domain
      pfam01391
      Location:37 → 86
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      22653236..22661637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      22478246..22486577
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02746.3 GenPept UniProtKB/Swiss-Prot:P02746

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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