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C1QC complement C1q C chain [ Homo sapiens (human) ]

Gene ID: 714, updated on 5-Mar-2024

Summary

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Official Symbol
C1QCprovided by HGNC
Official Full Name
complement C1q C chainprovided by HGNC
Primary source
HGNC:HGNC:1245
See related
Ensembl:ENSG00000159189 MIM:120575; AllianceGenome:HGNC:1245
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; C1QD3
Summary
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]
Expression
Broad expression in spleen (RPKM 519.1), lymph node (RPKM 141.4) and 14 other tissues See more
Orthologs
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Genomic context

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Location:
1p36.12
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22643633..22648108)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22468666..22473122)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (22970126..22974601)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 6127 Neighboring gene complement C1q A chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:23003627-23004149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23004182-23004720 Neighboring gene complement C1q B chain 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 EPH receptor B2 Neighboring gene microRNA 4684

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. Complement C1QC as a potential prognostic marker and therapeutic target in colon carcinoma based on single-cell RNA sequencing and immunohistochemical analysis. Deng H, et al. Bosn J Basic Med Sci, 2022 Oct 23. PMID 35765947, Free PMC Article
  2. Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation. López-Lera A, et al. J Invest Dermatol, 2014 Apr. PMID 24157463
  3. Mesenchymal stromal cells derived from umbilical cord blood migrate in response to complement C1q. Qiu Y, et al. Cytotherapy, 2012 Mar. PMID 22264191
  4. Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency. Gulez N, et al. J Investig Allergol Clin Immunol, 2010. PMID 20635792
  5. Evidence that a C1q/C1qR system regulates monocyte-derived dendritic cell differentiation at the interface of innate and acquired immunity. Hosszu KK, et al. Innate Immun, 2010 Apr. PMID 19710097, Free PMC Article

See all (89) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Complement C1QC as a potential prognostic marker and therapeutic target in colon carcinoma based on single-cell RNA sequencing and immunohistochemical analysis.
    Title: Complement C1QC as a potential prognostic marker and therapeutic target in colon carcinoma based on single-cell RNA sequencing and immunohistochemical analysis.
  2. 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.
  3. C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.
    Title: C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.
  4. 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.
  5. C1QA was associated with later onset, whereas C1QC may have a double role: variants may confer earlier or later age-at-onset
    Title: C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.
  6. Neuromyelitis optica patients had higher levels of C3a and anti-C1q antibodies than healthy controls.
    Title: Complement activation in patients with neuromyelitis optica.
  7. C1q deficiency due to a Gly164Ser mutation may have a role in Rothmund-Thomson syndrome and glomerulonephritis [case report]
    Title: Rothmund-Thomson syndrome and glomerulonephritis in a homozygous C1q-deficient patient due to a Gly164Ser C1qC mutation.
  8. Data indicate that Cna binds to C1q.
    Title: Collagen-binding microbial surface components recognizing adhesive matrix molecule (MSCRAMM) of Gram-positive bacteria inhibit complement activation via the classical pathway.
  9. Analysis of its interaction properties by surface plasmon resonance shows that rC1q retains the ability of serum C1q to associate with the C1s-C1r-C1r-C1s tetramer, to recognize physiological C1q ligands such as IgG and pentraxin 3
    Title: Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites.
  10. Single nucleotide polymorphisms in and around the C1q genes, C1qA, C1qB and C1qC, correlated with C1q serum levels and may be a risk for the development of rheumatoid arthritis.
    Title: Genetic variants in the region of the C1q genes are associated with rheumatoid arthritis.
Submit: New GeneRIF Correction See all GeneRIFs (32)

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 3
MedGen: C5830423 OMIM: 620322 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

Potential readthrough

Included gene: C1QA

Homology

Clone Names

  • FLJ27103

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, 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 immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of granulocyte differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of macrophage differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
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 extracellular space HDA PubMed 
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 C
Names
complement component 1, q subcomponent, C chain
complement component 1, q subcomponent, gamma polypeptide

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_007565.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001114101.3 → NP_001107573.1  complement C1q subcomponent subunit C isoform 1 precursor

    See identical proteins and their annotated locations for NP_001107573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    BC009016, BG060138, CB995661, CN480852
    Consensus CDS
    CCDS227.1
    UniProtKB/Swiss-Prot
    P02747, Q7Z502, Q96DL2, Q96H05
    UniProtKB/TrEMBL
    A0A024RAA7, A0A024RAB3
    Related
    ENSP00000363770.3, ENST00000374639.7
    Conserved Domains (2) summary
    smart00110
    Location:113 → 245
    C1Q; Complement component C1q domain
    pfam01391
    Location:43 → 87
    Collagen; Collagen triple helix repeat (20 copies)

  2. NM_001347619.2 → NP_001334548.1  complement C1q subcomponent subunit C isoform 1 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same protein.
    Source sequence(s)
    AL158086, AL568589, BC009016, BG060138, CB995661, CN480852
    Consensus CDS
    CCDS227.1
    UniProtKB/Swiss-Prot
    P02747, Q7Z502, Q96DL2, Q96H05
    UniProtKB/TrEMBL
    A0A024RAA7, A0A024RAB3
    Related
    ENSP00000363768.1, ENST00000374637.1
    Conserved Domains (2) summary
    smart00110
    Location:113 → 245
    C1Q; Complement component C1q domain
    pfam01391
    Location:43 → 87
    Collagen; Collagen triple helix repeat (20 copies)

  3. NM_001347620.2 → NP_001334549.1  complement C1q subcomponent subunit C isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AL158086, BI824793
    Consensus CDS
    CCDS90877.1
    UniProtKB/TrEMBL
    A0A8Q3SIZ0
    Related
    ENSP00000512142.1, ENST00000695749.1
    Conserved Domains (1) summary
    smart00110
    Location:24 → 156
    C1Q; Complement component C1q domain

  4. NM_172369.5 → NP_758957.2  complement C1q subcomponent subunit C isoform 1 precursor

    See identical proteins and their annotated locations for NP_758957.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-3 encode the same isoform (1).
    Source sequence(s)
    BC009016, BG060138, CN480852, DA849505
    Consensus CDS
    CCDS227.1
    UniProtKB/Swiss-Prot
    P02747, Q7Z502, Q96DL2, Q96H05
    UniProtKB/TrEMBL
    A0A024RAA7, A0A024RAB3
    Related
    ENSP00000363771.4, ENST00000374640.9
    Conserved Domains (2) summary
    smart00110
    Location:113 → 245
    C1Q; Complement component C1q domain
    pfam01391
    Location:43 → 87
    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
    22643633..22648108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    22468666..22473122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02747.3 GenPept UniProtKB/Swiss-Prot:P02747

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