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C1QA Gene(Protein Coding)

Complement C1q A Chain

GCID:
GC01P022636
GIFtS:
57
Genes Participants
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Aliases for C1QA Gene

Aliases for C1QA Gene

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

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 Creation of C4 and C2 activators and Toll-like receptor signaling pathway. An important paralog of this gene is C1QTNF8.

UniProtKB/Swiss-Prot 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

Additional gene information for C1QA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1QA Gene

Genomics for C1QA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for C1QA Gene

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
GH01I022636 Promoter/Enhancer 0.9 EPDnew Ensembl 550.8 +0.4 384 0.6 CTCF CUX1 ZIC2 C1QA C1QC
GH01I022412 Enhancer 1.2 Ensembl ENCODE 11.9 -222.7 -222686 2.6 PKNOX1 CLOCK ATF1 FOXA2 MLX ARID4B NEUROD1 SIN3A ZNF48 YY1 C1QC C1QA LACTBL1 ZBTB40 LOC105376856 ENSG00000279625
GH01I022416 Enhancer 1.1 Ensembl ENCODE 11.9 -219.8 -219760 0.5 ATF1 ARID4B SIN3A ZNF2 ZNF48 ARID2 ZNF143 ATF7 KLF13 DEK C1QA C1QC LACTBL1 LOC105376856 ENSG00000279625
GH01I022851 Enhancer 0.2 FANTOM5 2.3 +215.2 215193 0.2 C1QA C1QB C1QC ENSG00000225952 MIR4253 EPHB2
GH01I022643 Promoter 0.7 EPDnew 0.4 +7.1 7108 0.1 MAFG MAFK EMSY C1QC C1QA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1QA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1QA gene promoter:

Genomic Locations for C1QA Gene

Genomic Locations for C1QA Gene
chr1:22,636,506-22,639,682
(GRCh38/hg38)
Size:
3,177 bases
Orientation:
Plus strand
chr1:22,962,999-22,966,175
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for C1QA Gene

Proteins for C1QA Gene

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  2. Protein
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  • 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.

    Three dimensional structures from OCA and Proteopedia for C1QA Gene

neXtProt entry for C1QA Gene

Protein Expression for C1QA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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, posLast=4848, Lys67, posLast=100100, and posLast=146146

Other Protein References for C1QA Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for C1QA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for C1QA Gene

Function for C1QA Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for C1QA Gene

GENATLAS Biochemistry:
complement component 1,q subcomponent,80kDa,alpha polypeptide (2.6kb),classical pathway of C3 activation,see C1Q@
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.

Gene Ontology (GO) - Molecular Function for C1QA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
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:

Animal Model Products

miRNA for C1QA Gene

miRTarBase miRNAs that target C1QA

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
See all subcellular structures

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:0005615 extracellular space IEA --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with C1QA: view

Pathways & Interactions for C1QA Gene

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

Gene Ontology (GO) - Biological Process for C1QA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway IEA,TAS --
GO:0007267 cell-cell signaling TAS 9461517
GO:0010039 response to iron ion IEA --
genes like me logo Genes that share ontologies with C1QA: view

No data available for SIGNOR curated interactions for C1QA Gene

Drugs & Compounds for C1QA Gene

Products:

  1. Drug

(29) Drugs for C1QA Gene - From: DrugBank, DGIdb, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma Target 65
Adalimumab Approved Pharma Target 521
Alefacept Approved, Investigational, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 319
Basiliximab Approved, Investigational Pharma Target 140
genes like me logo Genes that share compounds with C1QA: view

Transcripts for C1QA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for C1QA Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(507) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C1QA Gene

Complement component 1, q subcomponent, A chain:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for C1QA Gene

GeneLoc Exon Structure for
C1QA
ECgene alternative splicing isoforms for
C1QA

Expression for C1QA Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for C1QA Gene
mRNA expression by GTEx for C1QA GenemRNA expression by BioGPS 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, PaxDb, and MOPED for C1QA Gene



Protein tissue co-expression partners for C1QA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C1QA Gene:

C1QA

SOURCE GeneReport for Unigene cluster for C1QA Gene:

Hs.632379

Evidence on tissue expression from TISSUES for C1QA Gene

  • Spleen(4.6)
  • Liver(4.4)
  • Blood(4.3)
  • Bone marrow(4.3)
  • Lung(3)
  • Lymph node(2.8)
  • Intestine(2.7)
  • Nervous system(2.2)
  • Adrenal gland(2.1)
  • Gall bladder(2)

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
Organs:
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 33 34
  • 99.46 (n)
dog
(Canis familiaris)
 Mammalia C1QA 33 34
  • 84.29 (n)
cow
(Bos Taurus)
 Mammalia C1QA 33 34
  • 80.46 (n)
mouse
(Mus musculus)
 Mammalia C1qa 33 16 34
  • 75.92 (n)
rat
(Rattus norvegicus)
 Mammalia C1qa 33
  • 75.65 (n)
oppossum
(Monodelphis domestica)
 Mammalia C1QA 34
  • 59 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia C1QA 34
  • 55 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves C1QA 33 34
  • 61.23 (n)
lizard
(Anolis carolinensis)
 Reptilia C1QA 34
  • 49 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii c1qa 33 34
  • 45.85 (n)
Species where no ortholog for C1QA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for C1QA Gene

Paralogs for C1QA Gene

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

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

Variants for C1QA Gene

Sequence variations from dbSNP and Humsavar for C1QA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs121909581 pathogenic, C1q deficiency 22,639,291(+) C/T coding_sequence_variant, stop_gained
rs34139950 pathogenic, C1q deficiency 22,639,317(+) G/A coding_sequence_variant, stop_gained
rs1002520235 -- 22,637,266(+) A/T intron_variant
rs1002672995 -- 22,639,059(+) G/A coding_sequence_variant, synonymous_variant
rs1003138233 -- 22,639,443(+) G/A 3_prime_UTR_variant

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

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

Disorders for C1QA Gene

MalaCards: The human disease database

(6) MalaCards diseases for C1QA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

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
lupus erythematosus
  • systemic lupus erythematosus
complement component deficiency
systemic lupus erythematosus 16
  • sleb16
- 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 mutations 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 44 58
  2. 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 44 58
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  4. Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PMID: 20528885) Rafiq S … Eggleton P (Clinical and experimental immunology 2010) 3 44 58
  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 44 58

Products for C1QA Gene

Sources for C1QA Gene

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