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FLASH GENE
Symbol C1QA contributors: mct/pgu - updated : 22-10-2013
HGNC name complement component 1, q subcomponent, A chain
HGNC id 1241
Corresponding disease
C1QA complement component 1QA deficiency
Location 1p36.12      Physical location : 22.963.117 - 22.966.174
Synonym name complement component 1, q subcomponent, alpha polypeptide
Synonym symbol(s) C1q
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 3.06 kb     3 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
HSPG2 1p36.11-p35 heparan sulfate proteoglycan 2 (perlecan) LOC391017 1 hypothetical gene supported by X89401; NM_000982 ELA3B 1p36.12 elastase 3B, pancreatic ELA3A 1p36.12 elastase 3A, pancreatic (protease E) HSPC157 1p36.12 HSPC157 protein CDC42 1p36.1 cell division cycle 42 (GTP binding protein, 25kDa) WNT4 1p36.23-p35.1 wingless-type MMTV integration site family, member 4 LOC343384 1p36.12 similar to peptidyl-Pro cis trans isomerase KIAA0478 1pter-q31.3 similar to peptidyl-Pro cis trans isomerase EPHA8 1p36.12 EphA8 C1QA 1p36.3-p34.1 complement component 1, q subcomponent, alpha polypeptide C1QG 1p36.3-p34.1 complement component 1, q subcomponent, gamma polypeptide C1QB 1p36.11 complement component 1, q subcomponent, beta polypeptide EPHB2 1p36.1-p35 EphB2 LOC127309 1p36.11 similar to RIKEN cDNA 4930549C01 KIAA0601 1p36.11 KIAA0601 protein LUZP1 1p36 leucine zipper protein 1 LOC391018 1 similar to RIKEN cDNA 2410002F23 HTR1D 1p35 5-hydroxytryptamine (serotonin) receptor 1D LOC391019 1 similar to 60S ribosomal protein L29 (Cell surface heparin binding protein HIP) HNRPR 1p36.11 heterogeneous nuclear ribonucleoprotein R ZNF436 1p36 zinc finger protein 436 TCEA3 1p36.11 transcription elongation factor A (SII), 3 UPLC1 1p36.11 up-regulated in liver cancer 1
regionally located clustered with C1QB, C1QG in the order A, C(G), B
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1098 25 245 - 2007 17383729
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
 intestinelarge intestinecolon highly
Endocrineneuroendocrinepituitary  highly
Lymphoid/Immunespleen   predominantly
Respiratorylung   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticplasma    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunedendritic cell Homo sapiens
Lymphoid/Immunemacrophage Homo sapiens
cell lineage
cell lines
fluid/secretion serum
at STAGE
physiological period fetal, pregnancy
Text moderately in placenta and umbilical cord
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 22 aa signal peptide
  • a collagen-like domain
  • a C1q-domain
  • a globular head
  • a C terminal carbohydrate binding domain
  • conjugated GlycoP
    mono polymer heteromer , monomer , dimer
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to rattus C1qa (73.5 pc)
    homolog to murine C1qa (70.6 pc)
    intraspecies homolog to non collagen-like sequence of COLVIII and COLX
    Homologene
    FAMILY
    CATEGORY immunity/defense , secretory , DNA associated
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in classical pathway of C3
  • acting as a chemoattractant for neutrophils
  • induces maturation of human dendritic cells
  • cooperative interaction between C1QA and PRNP could represent an early step in the disease, where it prevents elimination of the prion seed, leading to further aggregation
  • dendritic cells pericellular C1QA may induce tolerogenic properties in developing dendritic cells
  • primary component of the classical complement pathway, that is a cone photoreceptor neuronal survival factor
  • important role of complement C1QA in the innate immune response
  • activates canonical Wnt signaling and promotes aging-associated decline in tissue regeneration
  • unexpected role in Wnt signal transduction and modulation of mammalian aging
  • C1QA binds to the nucleolus in advanced apoptotic cells, and the C1QA-associated C1R/C1S proteases degrade nucleolar proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • phosphate transport
  • PATHWAY
    metabolism
    signaling
    cell-cell signaling
    a component
  • forming a disulfide-linked dimer with C1QB
  • part of the C1 complex including six C1QA, six C1QB, six C1QG
  • C1, the first component of the complement system, is a Ca(2+)-dependent heteropentamer complex of C1QA and two modular serine proteases, C1R and C1S
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • ARRB2 mRNA and protein expression is enriched in macrophages, and it regulates complement C1QA expression and cell survival
  • AGER is a native C1QA, C1QB, C1QC globular domain receptor (C1q and AGER are linked to the recruitment of leukocytes and phagocytosis of C1q-coated material)
  • C1QA recruits C1R/C1S to specific structures in dead cells, leading to cellular antigen degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) C1QA
    related resource C1QAbase - Mutation registry for C1qA deficiency
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    is strongly associated with the development of systemic lupus erythematosus
    Susceptibility
  • to lupus erythematosus
  • to variation of familial amyloidotic polyneuropathy TTR Val30Met
  • Variant & Polymorphism other
  • mutation in C1DA gene that disrupts the start codon (ATG to AGG (Met1Arg) associated with lupus
  • polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS