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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
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Genomic context

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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
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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

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