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FLASH GENE
Symbol C1QL1 contributors: mct - updated : 22-03-2022
HGNC name complement component 1, q subcomponent-like 1
HGNC id 24182
Location 17q21.31      Physical location : 43.037.061 - 43.045.644
Synonym name C1q-related factor
Synonym symbol(s) CRF1, C1QRF, C1QTNF14, CRF, CTRP14
DNA
TYPE functioning gene
STRUCTURE 8.61 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1527 - 258 - 2009 19275900
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinnercochlea   Homo sapiens
Nervousbrainhindbrainpons   Homo sapiens
Reproductivefemale systemuterus   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose    Homo sapiens
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumhair cell receptor Homo sapiens
NervousPurkinje cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • one C1Q domain
  • one collagenous domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • involved in locomotory behavior
  • C1QL1 undergoes RNA editing causing non-synonymous amino acid substitutions
  • may play diverse roles by forming homomeric and heteromeric complexes in the central nervous system
  • C1QL1, C1QL2, C1QL3, C1QL4 proteins are secreted signaling molecules that bind to ADGRB3 and act, at least in part, to regulate synapse formation and/or maintenance
  • C1QL1 and its receptor, the adhesion-GPCR brain angiogenesis inhibitor 3 (BAI3), controls the stereotyped pattern of connectivity established by excitatory afferents on cerebellar Purkinje cells
  • CQL1/Ctrp14 and C1QL4/Ctrp11 stimulate the new blood vessel growth by activation of ERK1/2 signal pathway
  • CBLN1 and C1QL1 proteins regulate the formation and maintenance of parallel fiber-Purkinje cell and climbing fiber-Purkinje cell synapses, respectively, in the cerebellum
  • play an important role in synaptic maturation, regulation, and maintenance in the central nervous system
  • is essential for development of hair cell innervation and outer hair cells survival
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • C1QL1-BAI3 signaling is required for motor learning but not for gross motor performance or coordination
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • C1ql1-null mice exhibited progressive hearing loss with elevated thresholds of auditory brainstem response and distortion product otoacoustic emission