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C1QA Gene

protein-coding   GIFtS: 69
GCID: GC01P022962

Complement Component 1, Q Subcomponent, A Chain

(Previous names: complement component 1, q subcomponent, alpha polypeptide)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Complement Component 1, Q Subcomponent, A Chain1 2
Complement Component 1, Q Subcomponent, Alpha Polypeptide1 2
Complement C1q Subcomponent Subunit A2
Complement Component C1q, A Chain2

External Ids:    HGNC: 12411   Entrez Gene: 7122   Ensembl: ENSG000001733727   OMIM: 1205505   UniProtKB: P027453   

Export aliases for C1QA gene to outside databases

Previous GC identifers: GC01P022532 GC01P021998 GC01P022109 GC01P022432 GC01P022433 GC01P022708 GC01P022835 GC01P021207


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. An important paralog of this gene is C1QTNF6.

UniProtKB/Swiss-Prot: C1QA_HUMAN, P02745
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 Wiki entry for C1QA Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1QA gene promoter:
         AhR   STAT1   NRSF form 1   STAT1beta   RelA   NRSF form 2   Arnt   STAT1alpha   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC1QA promoter sequence
   Search Chromatin IP Primers for C1QA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1QA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.3-p34.1

C1QA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P022962:  view genomic region     (about GC identifiers)

Start:
22,962,999 bp from pter      End:
22,966,175 bp from pter
Size:
3,177 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: C1QA_HUMAN, P02745 (See protein sequence)
Recommended Name: Complement C1q subcomponent subunit A precursor  
Size: 245 amino acids; 26017 Da
Subunit: 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
5 PDB 3D structures from and Proteopedia for C1QA:
1PK6 (3D)        2JG8 (3D)        2JG9 (3D)        2WNU (3D)        2WNV (3D)    
Secondary accessions: B2R4X2 Q5T963

Explore the universe of human proteins at neXtProt for C1QA: NX_P02745

Explore proteomics data for C1QA at MOPED

Post-translational modifications: 

  • O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl
    groups1
  • Glycosylation2 at Lys33, Lys48, Lys67, Lys100, Lys103, Asn146
  • Modification sites at PhosphoSitePlus

  • See C1QA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057075.1  
    ENSEMBL proteins: 
     ENSP00000363773   ENSP00000416841   ENSP00000385564  
    Reactome Protein details: P02745

    C1QA Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for C1QA
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    Novus Biologicals C1QA Protein
    Novus Biologicals C1QA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for C1QA
    Browse Proteins at Cloud-Clone Corp.

    C1QA Antibody Products:

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    Abcam antibodies for C1QA (P02745, P02747, P02746)
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    LSBio Antibodies in human, mouse, rat for C1QA

    C1QA Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    complement: Complement system

    3 InterPro protein domains:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry P02745

    ProtoNet protein and cluster: P02745

    3 Blocks protein domains:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: C1QA_HUMAN, P02745
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 collagen-like domain


    C1QA for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1QA_HUMAN, P02745
    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 entry for C1QA:
    complement component 1,q subcomponent,80kDa,alpha polypeptide (2.6kb),classical pathway of C3 activation,see C1Q@

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12960167
         
    C1QA for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for C1QA:
     Decreased G3BP1 protein expres  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for C1qa):
     behavior/neurological  cellular  immune system  mortality/aging  nervous system 
     normal  renal/urinary system 

    C1QA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out C1qatm1Mjw for C1QA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1QA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C1QA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1QA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C1QA

    miRNA
    Products:
        
    miRTarBase miRNAs that target C1QA:
    hsa-mir-335-5p (MIRT017487)

    Block miRNA regulation of human, mouse, rat C1QA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate C1QA:
    hsa-miR-922
    SwitchGear 3'UTR luciferase reporter plasmidC1QA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C1QA
    Predesigned siRNA for gene silencing in human, mouse, rat C1QA

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for C1QA

    Clone
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    OriGene ORF clones in mouse, rat for C1QA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C1QA (NM_015991)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1QA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1QA

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QA


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C1QA_HUMAN, P02745: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005602complement component C1 complex TAS9461517

    C1QA for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for C1QA About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    Complement and Coagulation Cascades0.71
    2Complement Pathway
    Immune response Classic complement pathway0.56
    Classical Complement Pathway0.00
    Complement Pathway0.33
    3Creation of C4 and C2 activators
    Creation of C4 and C2 activators0.85
    Classical antibody-mediated complement activation0.82
    Initial triggering of complement0.85
    Complement cascade0.68
    4RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    5Toll-like receptor signaling pathway
    Chagas disease (American trypanosomiasis)0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for C1QA
        Classical Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for C1QA
        Immune response Classical complement pathway

    2 BioSystems Pathways for C1QA
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    2 Reactome Pathways for C1QA
        Classical antibody-mediated complement activation
    Initial triggering of complement


    Selected Kegg Pathways  (Kegg details for C1QA) (see all 6):
        Complement and coagulation cascades
    Prion diseases
    Pertussis
    Chagas disease (American trypanosomiasis)
    Staphylococcus aureus infection


    C1QA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including C1QA: 
              Lymphoma in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for C1QA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for C1QA (P027451, 2, 3 ENSP000003637734) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1QBP027461, 2, 3, ENSP000003139674EBI-1220209,EBI-2813376 MINT-8040663 I2D: score=1 STRING: ENSP00000313967
    HIPK3Q9H4222, 3MINT-61745 I2D: score=3 
    C1QCP027472, 3, ENSP000003637684MINT-8040663 I2D: score=1 STRING: ENSP00000363768
    C1SP098713, ENSP000003281734I2D: score=2 STRING: ENSP00000328173
    DCNP075853, ENSP000000527544I2D: score=2 STRING: ENSP00000052754
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway TAS--
    GO:0007267cell-cell signaling TAS9461517
    GO:0045087innate immune response TAS--

    C1QA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C1QA

    1 HMDB Compound for C1QA    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected DrugBank Compounds for C1QA (see all 18)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    RituximabAntiCD20 (see all 2)174722-31-7target--17016423 17139284 12874252
    Abciximab7E3 (see all 4)143653-53-6target--17016423 17139284
    Adalimumab-- 331731-18-1target--17016423 17139284
    Alefacept-- 222535-22-0target--17139284 17016423
    Alemtuzumab-- 216503-57-0target--17016423 17139284
    Basiliximabchimeric mouse-human antiCD25 (see all 2)152923-56-3target--17016423 17139284
    BevacizumabantiVEGF (see all 3)216974-75-3target--17139284 17016423
    CetuximabAnti EGFR (see all 2)205923-56-4target--17139284 17016423
    DaclizumabAnti-IL-2 (see all 3)152923-56-3target--17139284 17016423
    Efalizumabanti alphaL integrin (see all 4)214745-43-4target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C1QA gene: 
    NM_015991.2  

    Unigene Cluster for C1QA:

    Complement component 1, q subcomponent, A chain
    Hs.632379  [show with all ESTs]
    Unigene Representative Sequence: BX351776
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374642(uc001bfy.3) ENST00000438241 ENST00000402322

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate C1QA:
    hsa-miR-922
    SwitchGear 3'UTR luciferase reporter plasmidC1QA 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C1QA
      QuantiFast Probe-based Assays in human, mouse, rat C1QA

    Additional mRNA sequence: 

    AF135157.1 AF260332.1 AK311980.1 BC030153.2 BC071986.1 

    9 DOTS entries:

    DT.215601  DT.99977838  DT.95272437  DT.100821023  DT.100821026  DT.95272433  DT.100821025  DT.97821700 
    DT.95272435 

    Selected AceView cDNA sequences (see all 507):

    CD108412 AA335122 BI824570 CD364998 CR623532 CA941757 CA406370 BM691745 
    CD367233 BI838362 BI761121 BM694149 BQ706502 CD364638 CR617498 BI768411 
    AI741805 BI769845 BI523824 AI749854 CR597625 BI835225 BX337443 CR591547 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C1QA expression in normal human tissues (normalized intensities)      C1QA embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTAAGAAG
    C1QA Expression
    About this image


    C1QA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Intermediate Mesoderm (Gastrulation Derivatives)    fully expand to see all 2 entries
             Mesonephric cells Mesonephros
             Mesonephros
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    C1QA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1QA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632379
        Pathway & Disease-focused RT2 Profiler PCR Array including C1QA: 
              Lymphoma in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for C1QA
    OriGene qSTAR qPCR primer pairs in human, mouse for C1QA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C1QA
    QuantiTect SYBR Green Assays in human, mouse, rat C1QA
    QuantiFast Probe-based Assays in human, mouse, rat C1QA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for C1QA gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1qa1 , 5 complement component 1, q subcomponent, alpha polypeptide1, 5 75.92(n)1
    70.61(a)1
      4 (69.05 cM)5
    122591  NM_007572.21  NP_031598.21 
     1368959175 
    chicken
    (Gallus gallus)
    Aves C1QA1 complement component 1, q subcomponent, A chain 61.23(n)
    50.64(a)
      419504  XM_417654.4  XP_417654.2 
    lizard
    (Anolis carolinensis)
    Reptilia C1QA6
    complement component 1, q subcomponent, A chain
    49(a)
    1 ↔ 1
    AAWZ02038779(5880-6777)
    zebrafish
    (Danio rerio)
    Actinopterygii c1qa1 complement component 1, q subcomponent, A chain 45.85(n)
    39.09(a)
      553548  NM_001020527.1  NP_001018363.1 


    ENSEMBL Gene Tree for C1QA (if available)
    TreeFam Gene Tree for C1QA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1QA gene
    C1QTNF62  C1QB2  COL10A12  C1QTNF12  C1QTNF9B2  C1QTNF42  COL8A22  C1QTNF92  
    C1QTNF52  COL8A12  OTOL12  C1QTNF82  C1QTNF72  C1QC2  C1QTNF22  ADIPOQ2  
    8 SIMAP similar genes for C1QA using alignment to 1 protein entry:     C1QA_HUMAN:
    C1QB    C1QTNF2    ADIPOQ    C1QC    C1QL3    OTOL1
    C1QTNF7    C1QTNF9

    C1QA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C1QA (see all 152)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs590287381,2
    C--22961707(+) AGTGC-/CGAGCT 1 -- us2k10--------
    rs751760131,2
    F--22961724(+) CAGTTT/ACCCCT 1 -- us2k11Minor allele frequency- A:0.04NA 120
    rs413020111,2
    F--22965219(+) AGGCCA/CAGGTG 1 -- int10--------
    rs1723781,2
    C,F,A--22965438(+) CTCGGA/GGCCCG 2 G syn122Minor allele frequency- T:0.03EA NA NS WA CSA EU 884
    rs1806797211,2
    C--22965457(+) CGGGAA/CTTAAA 2 I L mis10--------
    rs1439219491,2
    C,F--22965538(+) CCCCAA/GTGGGG 2 M V mis12Minor allele frequency- G:0.00NA EU 5787
    rs2015171181,2
    --22965616(+) GATTCA/GTCTGC 2 I V mis10--------
    rs2008125791,2
    C--22965659(+) GGTGCC/TGTCCC 2 P L mis10--------
    rs1490509681,2
    C,F--22965687(+) TCCATC/TGTCTC 2 I syn12Minor allele frequency- T:0.00NA EU 5875
    rs2018160091,2
    C--22965743(+) CACCAA/CCAAGG 2 N T mis10--------

    HapMap Linkage Disequilibrium report for C1QA (22962999 - 22966175 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C1QA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv871044CNV Loss21882294
    esv34161CNV Loss18971310

    Human Gene Mutation Database (HGMD): C1QA
    Locus Specific Mutation Databases (LSDB): C1QA

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1QA
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 120550   
    OMIM disorders: 613652  
    UniProtKB/Swiss-Prot: C1QA_HUMAN, P02745
  • 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

  • Selected diseases for C1QA (see all 36):    About MalaCards
    cutaneous lupus erythematosus    subacute cutaneous lupus erythematosus    c1q deficiency    barrett esophagus/esophageal adenocarcinoma
    glomerulonephritis    complement component 4, partial deficiency of    lupus erythematosus    prion disease
    trypanosomiasis    follicular lymphoma    chagas disease    pertussis
    polyneuropathy    systemic lupus erythematosus    connective tissue disease    childhood leukemia
    barrett's esophagus    hiv-1    meningioma    sinusitis

    1 disease from the University of Copenhagen DISEASES database for C1QA:
    Lupus erythematosus

    C1QA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genatlas disease: C1QA
    glomerulonephritis,or IGA nephropathy,lupus systemic syndrome (C1Q deficiency)

    Genetic Association Database (GAD): C1QA
    Human Genome Epidemiology (HuGE) Navigator: C1QA (18 documents)

    Export disorders for C1QA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for C1QA gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with C1QA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus. (PubMed id 12630757)1, 4, 9 Racila D.M....Sontheimer R.D. (Lupus 2003)
    2. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    4. Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PubMed id 20528885)1, 4 Rafiq S....Eggleton P. (Clin. Exp. Immunol. 2010)
    5. Common germ-line polymorphism of C1QA and breast cancer survival. (PubMed id 20332777)1, 4 Azzato E.M....Maia A.T. (Br. J. Cancer 2010)
    6. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    7. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. (PubMed id 19493541)1, 4 Dardiotis E....Kyriakides T. (J. Neurol. Sci. 2009)
    8. Evaluation of C1q genomic region in minority racial groups of lupus. (PubMed id 19440201)1, 4 Namjou B....Harley J.B. (Genes Immun. 2009)
    9. Analysis of C1q polymorphisms suggests association with systemic lupus erythematosus, serum C1q and CH50 levels and disease severity. (PubMed id 18504288)1, 4 Martens H.A....Bijl M. (Ann. Rheum. Dis. 2009)
    10. A polymorphism in the complement component C1qA correlates with prolonged response following rituximab therapy of follicular lymphoma. (PubMed id 18927313)1, 4 Racila E....Weiner G.J. (Clin. Cancer Res. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 712 HGNC: 1241 AceView: C1QAandC1QG Ensembl:ENSG00000173372 euGenes: HUgn712
    ECgene: C1QA Kegg: 712 H-InvDB: C1QA

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for C1QA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C1QA Genetics and Cytogenetics in Oncology and Haematology
    C1QAbasehttp://bioinf.uta.fi/C1QAbase/
    SeattleSNPshttp://pga.gs.washington.edu/data/c1qa/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1QA gene:
    Search GeneIP for patents involving C1QA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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