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Protein

Complement C1q subcomponent subunit C

Gene

C1QC

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca2+-dependent C1r2C1s2 proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processComplement pathway, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiR-HSA-166663 Initial triggering of complement
R-HSA-173623 Classical antibody-mediated complement activation
R-HSA-977606 Regulation of Complement cascade

Names & Taxonomyi

Protein namesi
Recommended name:
Complement C1q subcomponent subunit C
Gene namesi
Name:C1QC
Synonyms:C1QG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000159189.11
HGNCiHGNC:1245 C1QC
MIMi120575 gene
neXtProtiNX_P02747

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Complement component C1q deficiency (C1QD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
See also OMIM:613652
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00854234G → R in C1QD. 1 PublicationCorresponds to variant dbSNP:rs200206736EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi714
MalaCardsiC1QC
MIMi613652 phenotype
OpenTargetsiENSG00000159189
Orphaneti169147 Immunodeficiency due to a classical component pathway complement deficiency
PharmGKBiPA25626

Chemistry databases

DrugBankiDB00054 Abciximab
DB00051 Adalimumab
DB00092 Alefacept
DB00087 Alemtuzumab
DB00074 Basiliximab
DB00112 Bevacizumab
DB00002 Cetuximab
DB00111 Daclizumab
DB00095 Efalizumab
DB00005 Etanercept
DB00056 Gemtuzumab ozogamicin
DB00078 Ibritumomab tiuxetan
DB00075 Muromonab
DB00108 Natalizumab
DB00110 Palivizumab
DB00073 Rituximab
DB00081 Tositumomab
DB00072 Trastuzumab

Polymorphism and mutation databases

BioMutaiC1QC
DMDMi20178281

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 281 PublicationAdd BLAST28
ChainiPRO_000000352429 – 245Complement C1q subcomponent subunit CAdd BLAST217

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi32Interchain
Modified residuei364-hydroxyproline1 Publication1
Modified residuei394-hydroxyproline1 Publication1
Modified residuei424-hydroxyproline1 Publication1
Modified residuei454-hydroxyproline1 Publication1
Modified residuei544-hydroxyproline1 Publication1
Modified residuei634-hydroxyproline1 Publication1
Modified residuei755-hydroxylysine1 Publication1
Glycosylationi75O-linked (Gal...) hydroxylysine1
Modified residuei814-hydroxyproline1 Publication1
Modified residuei934-hydroxyproline1 Publication1
Modified residuei964-hydroxyproline1 Publication1
Modified residuei994-hydroxyproline1 Publication1
Modified residuei1054-hydroxyproline1 Publication1

Post-translational modificationi

O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

PaxDbiP02747
PeptideAtlasiP02747
PRIDEiP02747
ProteomicsDBi51563

PTM databases

PhosphoSitePlusiP02747

Miscellaneous databases

PMAP-CutDBiP02747

Expressioni

Gene expression databases

BgeeiENSG00000159189 Expressed in 191 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_C1QC
ExpressionAtlasiP02747 baseline and differential
GenevisibleiP02747 HS

Organism-specific databases

HPAiCAB009828
HPA001471

Interactioni

Subunit structurei

C1 is a calcium-dependent trimolecular complex of C1q, R and S in the molar ration of 1:2:2. C1q subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and three of which are disulfide-linked dimers of the C chain.

Binary interactionsi

WithEntry#Exp.IntActNotes
C1QBPQ070214EBI-1220222,EBI-14032968

Protein-protein interaction databases

BioGridi107175, 2 interactors
ComplexPortaliCPX-1919 Complement component C1q complex
CORUMiP02747
IntActiP02747, 9 interactors
MINTiP02747
STRINGi9606.ENSP00000363768

Structurei

Secondary structure

1245
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP02747
SMRiP02747
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02747

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 112Collagen-likeAdd BLAST82
Domaini115 – 245C1qPROSITE-ProRule annotationAdd BLAST131

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IWVM Eukaryota
ENOG4111MQB LUCA
GeneTreeiENSGT00760000118830
HOGENOMiHOG000085653
HOVERGENiHBG108220
InParanoidiP02747
KOiK03988
OMAiYKQKHQS
OrthoDBiEOG091G0L3Y
PhylomeDBiP02747
TreeFamiTF329591

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 1 hit
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02747-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDVGPSSLPH LGLKLLLLLL LLPLRGQANT GCYGIPGMPG LPGAPGKDGY
60 70 80 90 100
DGLPGPKGEP GIPAIPGIRG PKGQKGEPGL PGHPGKNGPM GPPGMPGVPG
110 120 130 140 150
PMGIPGEPGE EGRYKQKFQS VFTVTRQTHQ PPAPNSLIRF NAVLTNPQGD
160 170 180 190 200
YDTSTGKFTC KVPGLYYFVY HASHTANLCV LLYRSGVKVV TFCGHTSKTN
210 220 230 240
QVNSGGVLLR LQVGEEVWLA VNDYYDMVGI QGSDSVFSGF LLFPD
Length:245
Mass (Da):25,774
Last modified:April 16, 2002 - v3
Checksum:iFA17117EB7ABFC12
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14K → R in BAB71575 (PubMed:14702039).Curated1
Sequence conflicti23P → A no nucleotide entry (PubMed:1706597).Curated1
Sequence conflicti26 – 27GQ → AK in AAP97191 (Ref. 2) Curated2
Sequence conflicti57K → P AA sequence (PubMed:486087).Curated1
Sequence conflicti66P → K AA sequence (PubMed:486087).Curated1
Sequence conflicti72K → P AA sequence (PubMed:486087).Curated1
Sequence conflicti84P → K AA sequence (PubMed:486087).Curated1
Sequence conflicti87N → D AA sequence (PubMed:486087).Curated1
Sequence conflicti90M → N AA sequence (PubMed:486087).Curated1
Sequence conflicti104I → F in AAP97191 (Ref. 2) Curated1
Sequence conflicti149G → E in AAP97191 (Ref. 2) Curated1
Sequence conflicti215E → G in BAB71575 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00854234G → R in C1QD. 1 PublicationCorresponds to variant dbSNP:rs200206736EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087892 mRNA Translation: AAP97191.1
AK057792 mRNA Translation: BAB71575.1
AL158086 Genomic DNA No translation available.
BC009016 mRNA Translation: AAH09016.1
CCDSiCCDS227.1
PIRiS14351 C1HUQC
RefSeqiNP_001107573.1, NM_001114101.2
NP_001334548.1, NM_001347619.1
NP_758957.2, NM_172369.4
UniGeneiHs.467753

Genome annotation databases

EnsembliENST00000374637; ENSP00000363768; ENSG00000159189
ENST00000374639; ENSP00000363770; ENSG00000159189
ENST00000374640; ENSP00000363771; ENSG00000159189
GeneIDi714
KEGGihsa:714
UCSCiuc001bga.5 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF087892 mRNA Translation: AAP97191.1
AK057792 mRNA Translation: BAB71575.1
AL158086 Genomic DNA No translation available.
BC009016 mRNA Translation: AAH09016.1
CCDSiCCDS227.1
PIRiS14351 C1HUQC
RefSeqiNP_001107573.1, NM_001114101.2
NP_001334548.1, NM_001347619.1
NP_758957.2, NM_172369.4
UniGeneiHs.467753

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PK6X-ray1.85C117-245[»]
2JG8X-ray2.05C/F115-245[»]
2JG9X-ray1.90C/F115-245[»]
2WNUX-ray2.30C/F115-245[»]
2WNVX-ray1.25C/F115-245[»]
5HKJX-ray1.35A115-245[»]
5HZFX-ray1.55A115-245[»]
6FCZelectron microscopy10.00C117-245[»]
ProteinModelPortaliP02747
SMRiP02747
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107175, 2 interactors
ComplexPortaliCPX-1919 Complement component C1q complex
CORUMiP02747
IntActiP02747, 9 interactors
MINTiP02747
STRINGi9606.ENSP00000363768

Chemistry databases

DrugBankiDB00054 Abciximab
DB00051 Adalimumab
DB00092 Alefacept
DB00087 Alemtuzumab
DB00074 Basiliximab
DB00112 Bevacizumab
DB00002 Cetuximab
DB00111 Daclizumab
DB00095 Efalizumab
DB00005 Etanercept
DB00056 Gemtuzumab ozogamicin
DB00078 Ibritumomab tiuxetan
DB00075 Muromonab
DB00108 Natalizumab
DB00110 Palivizumab
DB00073 Rituximab
DB00081 Tositumomab
DB00072 Trastuzumab

PTM databases

PhosphoSitePlusiP02747

Polymorphism and mutation databases

BioMutaiC1QC
DMDMi20178281

Proteomic databases

PaxDbiP02747
PeptideAtlasiP02747
PRIDEiP02747
ProteomicsDBi51563

Protocols and materials databases

DNASUi714
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000374637; ENSP00000363768; ENSG00000159189
ENST00000374639; ENSP00000363770; ENSG00000159189
ENST00000374640; ENSP00000363771; ENSG00000159189
GeneIDi714
KEGGihsa:714
UCSCiuc001bga.5 human

Organism-specific databases

CTDi714
DisGeNETi714
EuPathDBiHostDB:ENSG00000159189.11
GeneCardsiC1QC
HGNCiHGNC:1245 C1QC
HPAiCAB009828
HPA001471
MalaCardsiC1QC
MIMi120575 gene
613652 phenotype
neXtProtiNX_P02747
OpenTargetsiENSG00000159189
Orphaneti169147 Immunodeficiency due to a classical component pathway complement deficiency
PharmGKBiPA25626
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IWVM Eukaryota
ENOG4111MQB LUCA
GeneTreeiENSGT00760000118830
HOGENOMiHOG000085653
HOVERGENiHBG108220
InParanoidiP02747
KOiK03988
OMAiYKQKHQS
OrthoDBiEOG091G0L3Y
PhylomeDBiP02747
TreeFamiTF329591

Enzyme and pathway databases

ReactomeiR-HSA-166663 Initial triggering of complement
R-HSA-173623 Classical antibody-mediated complement activation
R-HSA-977606 Regulation of Complement cascade

Miscellaneous databases

ChiTaRSiC1QC human
EvolutionaryTraceiP02747
GenomeRNAii714
PMAP-CutDBiP02747
PROiPR:P02747
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000159189 Expressed in 191 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_C1QC
ExpressionAtlasiP02747 baseline and differential
GenevisibleiP02747 HS

Family and domain databases

Gene3Di2.60.120.40, 1 hit
InterProiView protein in InterPro
IPR001073 C1q_dom
IPR008160 Collagen
IPR008983 Tumour_necrosis_fac-like_dom
PfamiView protein in Pfam
PF00386 C1q, 1 hit
PF01391 Collagen, 1 hit
PRINTSiPR00007 COMPLEMNTC1Q
SMARTiView protein in SMART
SM00110 C1Q, 1 hit
SUPFAMiSSF49842 SSF49842, 1 hit
PROSITEiView protein in PROSITE
PS50871 C1Q, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiC1QC_HUMAN
AccessioniPrimary (citable) accession number: P02747
Secondary accession number(s): Q7Z502, Q96DL2, Q96H05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: April 16, 2002
Last modified: November 7, 2018
This is version 193 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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