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

Gene ID: 714, updated on 10-Dec-2024

Summary

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

See C1QC in Genome Data Viewer
Location:
1p36.12
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (22643633..22648108)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22468666..22473122)
RS_2024_09 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

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 Functions

What'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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: C1QA

Clone Names

  • FLJ27103

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 extrinsic component of postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extrinsic component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
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

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_001114101.3NP_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:113245
    C1Q; Complement component C1q domain
    pfam01391
    Location:4387
    Collagen; Collagen triple helix repeat (20 copies)
  2. NM_001347619.2NP_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:113245
    C1Q; Complement component C1q domain
    pfam01391
    Location:4387
    Collagen; Collagen triple helix repeat (20 copies)
  3. NM_001347620.2NP_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:24156
    C1Q; Complement component C1q domain
  4. NM_172369.5NP_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:113245
    C1Q; Complement component C1q domain
    pfam01391
    Location:4387
    Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)