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Aliases for C1QA Gene

Aliases for C1QA Gene

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

External Ids for C1QA Gene

Summaries for C1QA Gene

Entrez Gene Summary for C1QA Gene

  • This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in order to yield the first component of the serum complement system. Deficiency of C1q has been associated with lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains, and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the A-chain polypeptide of human complement subcomponent C1q. [provided by RefSeq, Jul 2008]

GeneCards Summary for C1QA Gene

C1QA (Complement Component 1, Q Subcomponent, A Chain) is a Protein Coding gene. Diseases associated with C1QA include cutaneous lupus erythematosus and subacute cutaneous lupus erythematosus. Among its related pathways are Complement and coagulation cascades and Complement and coagulation cascades. An important paralog of this gene is COL8A1.

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

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

Genomics for C1QA Gene

Genomic Location for C1QA Gene

Start:
22,636,506 bp from pter
End:
22,639,682 bp from pter
Size:
3,177 bases
Orientation:
Plus strand

Genomic View for C1QA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C1QA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QA Gene

Regulatory Elements 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

    Three dimensional structures from OCA and Proteopedia for C1QA Gene

neXtProt entry for C1QA Gene

Proteomics data for C1QA Gene at MOPED

Post-translational modifications for C1QA Gene

  • O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl groups.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Lys33, Lys48, Lys67, Lys100, Lys103, and Asn146

Other Protein References for C1QA Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for C1QA Gene

Domains for C1QA Gene

Gene Families for C1QA Gene

HGNC:

UniProtKB/Swiss-Prot:

C1QA_HUMAN
Domain:
  • Contains 1 C1q domain.:
    • P02745
  • Contains 1 collagen-like domain.:
    • P02745
genes like me logo Genes that share domains with C1QA: view

Function for C1QA Gene

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:0005515 protein binding IPI 12960167
genes like me logo Genes that share ontologies with C1QA: view
genes like me logo Genes that share phenotypes with C1QA: view

Animal Models for C1QA Gene

MGI Knock Outs for C1QA:

miRNA for C1QA Gene

miRTarBase miRNAs that target C1QA

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

Localization for C1QA Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QA Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C1QA Gene COMPARTMENTS Subcellular localization image for C1QA gene
Compartment Confidence
extracellular 5
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 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:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with C1QA: view

Pathways 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:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
GO:0007267 cell-cell signaling TAS 9461517
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with C1QA: view

Compounds for C1QA Gene

(1) HMDB Compounds for C1QA Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(18) Drugbank Compounds for C1QA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Abciximab
  • 7E3
143653-53-6 target
Adalimumab
331731-18-1 target
Alefacept
222535-22-0 target
Alemtuzumab
216503-57-0 target
Basiliximab
  • chimeric mouse-human antiCD25
152923-56-3 target
genes like me logo Genes that share compounds with C1QA: view

Transcripts for C1QA Gene

mRNA/cDNA for C1QA Gene

Unigene Clusters for C1QA Gene

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

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

mRNA expression in normal human tissues 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 (14.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C1QA Gene

SOURCE GeneReport for Unigene cluster for C1QA Gene Hs.632379

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

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 36
  • 99.46 (n)
  • 98.78 (a)
C1QA 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1QA 36
  • 80.46 (n)
  • 75.41 (a)
C1QA 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1QA 36
  • 84.29 (n)
  • 80.33 (a)
C1QA 37
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C1qa 36
  • 75.92 (n)
  • 70.61 (a)
C1qa 16
C1qa 37
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1QA 37
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C1QA 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1qa 36
  • 75.65 (n)
  • 73.47 (a)
chicken
(Gallus gallus)
Aves C1QA 36
  • 61.23 (n)
  • 50.64 (a)
C1QA 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1QA 37
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii c1qa 36
  • 45.85 (n)
  • 39.09 (a)
c1qa 37
  • 35 (a)
OneToOne
Species with no ortholog for C1QA:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs172378 -- 22,638,945(+) CTCGG(A/G)GCCCG reference, synonymous-codon
rs292001 -- 22,638,465(+) TTGCA(A/G)TAATT intron-variant
rs292002 -- 22,639,997(+) accac(A/G)cccag downstream-variant-500B
rs1044350 -- 22,639,431(+) CCCCC(A/C)CCCAC utr-variant-3-prime
rs1044378 -- 22,639,552(+) TCTAA(A/G)AAGCT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv871044 CNV Loss 21882294
esv34161 CNV Loss 18971310

Relevant External Links for C1QA Gene

HapMap Linkage Disequilibrium report
C1QA
Human Gene Mutation Database (HGMD)
C1QA
Locus Specific Mutation Databases (LSDB)
C1QA

Disorders for C1QA Gene

(1) OMIM Diseases for C1QA Gene (120550)

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.

(1) University of Copenhagen DISEASES for C1QA Gene

Genatlas disease for C1QA Gene

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

Relevant External Links for C1QA

Genetic Association Database (GAD)
C1QA
Human Genome Epidemiology (HuGE) Navigator
C1QA
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 D.M. … Sontheimer R.D. (Lupus 2003) 3 23 49
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The crystal structure of the globular head of complement protein C1q provides a basis for its versatile recognition properties. (PMID: 12960167) Gaboriaud C. … Arlaud G.J. (J. Biol. Chem. 2003) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T. … Smith R.D. (J. Proteome Res. 2005) 3 4

Products for C1QA Gene

Sources for C1QA Gene

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