This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-termina... See more...

Aliases for C1QA Gene

Aliases for C1QA Gene

  • Complement C1q A Chain 2 3 5
  • Complement Component 1, Q Subcomponent, Alpha Polypeptide 2 3
  • Complement Component 1, Q Subcomponent, A Chain 2 3
  • Complement C1q Subcomponent Subunit A 3 4
  • Complement C1q Chain A 2 3
  • Complement Component C1q, A Chain 3
  • C1QA 5

External Ids for C1QA Gene

Previous GeneCards Identifiers for C1QA Gene

  • GC01P022532
  • GC01P021998
  • GC01P022109
  • GC01P022432
  • GC01P022433
  • GC01P022708
  • GC01P022835
  • GC01P022962
  • GC01P021207

Summaries for C1QA Gene

Entrez Gene Summary for C1QA Gene

  • This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. 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. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

GeneCards Summary for C1QA Gene

C1QA (Complement C1q A Chain) is a Protein Coding gene. Diseases associated with C1QA include C1q Deficiency and Immunodeficiency Due To A Classical Component Pathway Complement Deficiency. Among its related pathways are Complement and coagulation cascades and Creation of C4 and C2 activators. An important paralog of this gene is C1QB.

UniProtKB/Swiss-Prot Summary for C1QA Gene

  • 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 Ca(2+)-dependent C1r(2)C1s(2) 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.

Gene Wiki entry for C1QA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QA Gene

Genomics for C1QA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1QA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J022637 Promoter 0.8 Ensembl 250.7 +1.3 1338 2 CUX1 PTBP1 ZNF143 ZNF768 ZFP36 ZMYM3 RAD21 BCOR BRD9 NFXL1 C1QA MN308914 C1QC
GH01J022636 Promoter 0.4 EPDnew 250.7 +0.1 146 0.1 ZIC2 C1QA MN308914 C1QC
GH01J022412 Enhancer 1.1 Ensembl ENCODE 11.8 -222.9 -222890 3.1 ZMYM3 CEBPA JUND NFIC YY1 ZNF217 FOXA1 THAP11 ELF1 FOXA2 C1QA C1QC LACTBL1 ZBTB40 lnc-WNT4-1 LOC105376856 HSALNG0001584 WNT4
GH01J022416 Enhancer 1.1 Ensembl ENCODE 11.9 -219.6 -219562 1 ZNF654 KLF9 CEBPA REST KLF11 DEK TRIM22 CHD2 CTCF SIN3A C1QA C1QC LACTBL1 LOC105376856 lnc-WNT4-1 ZBTB40 HSALNG0001584 WNT4
GH01J022643 Promoter 1 EPDnew Ensembl 4.9 +8.7 8730 3.2 MAFF MAFK MAFG GLIS1 POLR2A EMSY C1QC LACTBL1 C1QB C1QA MN308915
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1QA

Top Transcription factor binding sites by QIAGEN in the C1QA gene promoter:
  • AhR
  • Arnt
  • Meis-1
  • Meis-1a
  • NRSF form 1
  • NRSF form 2
  • RelA
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for C1QA Gene

Latest Assembly
chr1:22,636,463-22,639,678
(GRCh38/hg38)
Size:
3,216 bases
Orientation:
Plus strand

Previous Assembly
chr1:22,962,956-22,966,171
(GRCh37/hg19 by Entrez Gene)
Size:
3,216 bases
Orientation:
Plus strand

chr1:22,962,999-22,966,101
(GRCh37/hg19 by Ensembl)
Size:
3,103 bases
Orientation:
Plus strand

Genomic View for C1QA Gene

Genes around C1QA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QA Gene

Proteins for C1QA Gene

  • Protein details for C1QA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02745-C1QA_HUMAN
    Recommended name:
    Complement C1q subcomponent subunit A
    Protein Accession:
    P02745
    Secondary Accessions:
    • B2R4X2
    • Q5T963

    Protein attributes for C1QA Gene

    Size:
    245 amino acids
    Molecular mass:
    26017 Da
    Quaternary structure:
    • 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. Interacts (via C-terminus) with CD33; this interaction activates CD33 inhibitory motifs (PubMed:28325905). Interacts with CR1 (via Sushi 24 and Sushi 25 domains) (PubMed:29563915, PubMed:9324355).
    • (Microbial infection) Interacts with Staphylococcus aureus protein Cna; this interaction results in the inhibition of the classical complement pathway.

    Three dimensional structures from OCA and Proteopedia for C1QA Gene

neXtProt entry for C1QA Gene

Post-translational modifications for C1QA Gene

  • O-linked glycans are assumed to be the Glc-Gal disaccharides typically found as secondary modifications of hydroxylated lysines in collagen-like domains.
  • Glycosylation at Lys33, Lys48, Lys67, Lys100, and Asn146
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for C1QA Gene

No data available for DME Specific Peptides for C1QA Gene

Domains & Families for C1QA Gene

Gene Families for C1QA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for C1QA Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Complement C1q protein

Suggested Antigen Peptide Sequences for C1QA Gene

GenScript: Design optimal peptide antigens:
  • Complement C1q subcomponent subunit A (C1QA_HUMAN)
genes like me logo Genes that share domains with C1QA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1QA Gene

Function for C1QA Gene

Molecular function for C1QA Gene

UniProtKB/Swiss-Prot Function:
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 Ca(2+)-dependent C1r(2)C1s(2) 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.
GENATLAS Biochemistry:
complement component 1,q subcomponent,80kDa,alpha polypeptide (2.6kb),classical pathway of C3 activation,see C1Q@

Phenotypes From GWAS Catalog for C1QA Gene

Gene Ontology (GO) - Molecular Function for C1QA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding TAS 15269255
GO:0005515 protein binding IPI 7240
genes like me logo Genes that share ontologies with C1QA: view
genes like me logo Genes that share phenotypes with C1QA: view

Human Phenotype Ontology for C1QA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C1QA Gene

MGI Knock Outs for C1QA:
  • C1qa C1qa<tm1Mjw>
  • C1qa C1qa<tm1b(EUCOMM)Wtsi>

miRNA for C1QA Gene

miRTarBase miRNAs that target C1QA

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for C1QA Gene

Localization for C1QA Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QA Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1QA gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for C1QA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005602 complement component C1 complex TAS 9461517
GO:0045202 synapse ISS --
GO:0062023 collagen-containing extracellular matrix HDA 28675934
genes like me logo Genes that share ontologies with C1QA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1QA Gene

Pathways & Interactions for C1QA Gene

genes like me logo Genes that share pathways with C1QA: view

Pathways by source for C1QA Gene

1 GeneGo (Thomson Reuters) pathway for C1QA Gene
  • Immune response Classical complement pathway
2 Qiagen pathways for C1QA Gene
  • Classical Complement Pathway
  • Complement Pathway

SIGNOR curated interactions for C1QA Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for C1QA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001774 microglial cell activation ISS --
GO:0002376 immune system process IEA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
GO:0007267 cell-cell signaling TAS 9461517
genes like me logo Genes that share ontologies with C1QA: view

Drugs & Compounds for C1QA Gene

(7) Drugs for C1QA Gene - From: DrugBank, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bevacizumab Approved, Investigational Pharma Target VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2506
Cetuximab Approved Pharma Target, binder EGFR Inhibitors, Therapeutic Antibodies, Epidermal growth factor receptor (EGFR) inhibitors 902
Etanercept Approved, Investigational Pharma Target, ligand 468
Palivizumab Approved, Investigational Pharma Target 28
Daclizumab Investigational, Withdrawn Pharma Target 99
genes like me logo Genes that share compounds with C1QA: view

Transcripts for C1QA Gene

mRNA/cDNA for C1QA Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QA

Alternative Splicing Database (ASD) splice patterns (SP) for C1QA Gene

No ASD Table

Relevant External Links for C1QA Gene

GeneLoc Exon Structure for
C1QA

Expression for C1QA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1QA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1QA Gene

This gene is overexpressed in Spleen (x14.4).

Protein differential expression in normal tissues from HIPED for C1QA Gene

This gene is overexpressed in Serum (42.4) and Plasma (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1QA Gene



Protein tissue co-expression partners for C1QA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1QA

SOURCE GeneReport for Unigene cluster for C1QA Gene:

Hs.632379

Evidence on tissue expression from TISSUES for C1QA Gene

  • Spleen(4.7)
  • Liver(4.6)
  • Bone marrow(4.5)
  • Blood(4.5)
  • Lung(3.4)
  • Lymph node(3.3)
  • Intestine(3.2)
  • Nervous system(2.9)
  • Heart(2.6)
  • Muscle(2.5)
  • Eye(2.3)
  • Kidney(2.3)
  • Skin(2.2)
  • Adrenal gland(2.1)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • scalp
  • thyroid
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with C1QA: view

No data available for mRNA Expression by UniProt/SwissProt for C1QA Gene

Orthologs for C1QA Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1QA 29 30
  • 99.46 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia C1QA 29 30
  • 84.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C1QA 29 30
  • 80.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia C1qa 29 16 30
  • 75.92 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C1qa 29
  • 75.65 (n)
Oppossum
(Monodelphis domestica)
Mammalia C1QA 30
  • 59 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia C1QA 30
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1QA 29 30
  • 61.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1QA 30
  • 49 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii c1qa 29 30
  • 45.85 (n)
OneToOne
Species where no ortholog for C1QA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C1QA Gene

ENSEMBL:
Gene Tree for C1QA (if available)
TreeFam:
Gene Tree for C1QA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C1QA: view image
Alliance of Genome Resources:
Additional Orthologs for C1QA

Paralogs for C1QA Gene

(8) SIMAP similar genes for C1QA Gene using alignment to 1 proteins:

  • C1QA_HUMAN
genes like me logo Genes that share paralogs with C1QA: view

Variants for C1QA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1QA Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
974838 Likely Pathogenic: C1q deficiency 22,638,879(+) G/AA
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs)
FRAMESHIFT
rs121909581 Pathogenic: C1q deficiency 22,639,291(+) C/T
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter)
NONSENSE
rs143921949 Likely Benign: not provided 22,639,045(+) A/G
NM_015991.4(C1QA):c.376A>G (p.Met126Val)
MISSENSE
rs149050968 Benign: not provided 22,639,194(+) C/T
NM_015991.4(C1QA):c.525C>T (p.Ile175=)
SYNONYMOUS
rs1557601149 Uncertain Significance: not provided 22,639,274(+) C/T
NM_015991.4(C1QA):c.605C>T (p.Ser202Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for C1QA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for C1QA Gene

Variant ID Type Subtype PubMed ID
esv34161 CNV loss 18971310

Variation tolerance for C1QA Gene

Residual Variation Intolerance Score: 63.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1QA Gene

Human Gene Mutation Database (HGMD)
C1QA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QA
Leiden Open Variation Database (LOVD)
C1QA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QA Gene

Disorders for C1QA Gene

MalaCards: The human disease database

(12) MalaCards diseases for C1QA Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
c1q deficiency
  • c1qd
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to c1, c4, or c2 component complement deficiency
systemic lupus erythematosus 16
  • sleb16
lupus erythematosus
  • lupus
complement component deficiency
- elite association - COSMIC cancer census association via MalaCards
Search C1QA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1QA_HUMAN
  • Complement component C1q deficiency (C1QD) [MIM:613652]: A 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. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for C1QA Gene

glomerulonephritis,or IGA nephropathy,lupus systemic syndrome (C1Q deficiency)

Additional Disease Information for C1QA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with C1QA: view

Publications for C1QA Gene

  1. Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. (PMID: 12630757) Racila DM … Sontheimer RD (Lupus 2003) 3 22 40
  2. Evidence for C1q-mediated crosslinking of CD33/LAIR-1 inhibitory immunoreceptors and biological control of CD33/LAIR-1 expression. (PMID: 28325905) Son M … Santiago-Schwarz F (Scientific reports 2017) 3 4
  3. Collagen-binding microbial surface components recognizing adhesive matrix molecule (MSCRAMM) of Gram-positive bacteria inhibit complement activation via the classical pathway. (PMID: 23720782) Kang M … Höök M (The Journal of biological chemistry 2013) 3 4
  4. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 40
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for C1QA Gene

Sources for C1QA Gene