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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
    mouse all
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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 Variation Viewer (GRCh37.p13)

    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

    Gene LinkOut

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