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FLASH GENE
Symbol C1QBP contributors: mct - updated : 19-11-2015
HGNC name complement component 1, q subcomponent binding protein
HGNC id 1243
Corresponding disease
COXPD33 combined oxidative phosphorylation deficiency 33
Location 17p13.2      Physical location : 5.336.098 - 5.342.471
Synonym name
  • C1Q globular domain-binding protein
  • splicing factor SF2-associated
  • hyaluronan-binding protein 1
  • complement component 1 Q subcomponent-binding protein, mitochondrial
  • glycoprotein gC1qBP
  • mitochondrial matrix protein p32, p33
  • Synonym symbol(s) HABP1, SF2P32, P32, GC1Q-R, GC1QBP, gC1qR, p33
    DNA
    TYPE functioning gene
    STRUCTURE 6.37 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box) (TATA box)
    Binding site
    text structure
  • seven GC rich sequences between the TATA box and the translation start site
  • three major transcritption start regions
  • binding sites for PANC-1 and for the transcription factor Sp1 in GC rich regions
  • MAPPING cloned Y linked N status confirmed
    Physical map
    LOC284015 17p13.3 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit MINK 17p13 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit CHRNE 17p13.1 cholinergic receptor, nicotinic, epsilon polypeptide GP1BA 17pter-p12 glycoprotein Ib (platelet), alpha polypeptide SLC25A11 17p13.3 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 DKFZP566H073 17p13.3 DKFZP566H073 protein PFN1 17p13.3 profilin 1 ENO3 17pter-p12 enolase 3, (beta, muscle) SPAG7 17p13.2 sperm associated antigen 7 CAMTA2 17p13.3 calmodulin binding transcription activator 2 LOC388324 17 LOC388324 KIF1C 17p13 kinesin family member 1C FLJ10060 17p13.3 putative G-protein coupled receptor GPCR42 FLJ30726 17p13.3 hypothetical protein FLJ30726 ZNF232 17p13-p12 zinc finger protein 232 USP6 17q11 ubiquitin specific protease 6 (Tre-2 oncogene) KIAA1871 17p13 KIAA1871 protein LOC388325 17 similar to DTFT5783 RABEP1 17p13.1 rabaptin, RAB GTPase binding effector protein 1 NUP88 17p13.2-p13.1 nucleoporin 88kDa MGC4189 17p13.3 hypothetical protein MGC4189 C1QBP 17p13.3 complement component 1, q subcomponent binding protein DHX33 17p13.2 DEAH (Asp-Glu-Ala-His) box polypeptide 33 F-LANa  carcinoma related gene MIS12 17p13.3 homolog of yeast Mis12 LOC388326 17 similar to Death effector filament-forming Ced-4-like apoptosis protein NALP1 17p13 NACHT, leucine rich repeat and PYD containing 1 LOC390759 17 similar to NipSnap1 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1163 - 282 - 2013 23692256
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain    
     gangliasensory gangliadorsal root  
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES globular
    STRUCTURE
    motifs/domains
  • N-terminal mitochondrial targeting peptide, proteolytically processed after import into the mitochondrial matrix, where it forms a homotrimeric complex organized in a doughnut-shaped structure
  • a hyaluromic acid-binding domain
  • a potential tyrosine sulfation
  • three predicted N-linked glycosylation and at least one potential phosphorylation sites
  • secondary structure seven consecutive antiparallel beta-stands flanked by one N-terminal and two C-terminal alpha-helices
    conjugated PhosphoP
    isoforms Precursor the first 73 residues of the 282 amino acid preprotein are removed posttranslationally
    HOMOLOGY
    interspecies homolog to murine C1qbp
    Homologene
    FAMILY hyaladherin family
    CATEGORY immunity/defense , RNA associated , signaling
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • translocated to the nuceus upon mitogenic stimulation
  • predominantly localized to the mitochondrial matrix near the nucleoid associated with mitochondrial transcription factor A
  • close association with the mitoribosome
  • basic FUNCTION
  • pre-mRNA splicing factor SP2 p32 subunit, preventing exon skipping and regulating alternative splicing
  • putatively involved in nucleus-mitochondrion interactions
  • inhibition of C1 activation and complement-mediated lysis
  • endogenous substrate for MAP kinase involved cell death in a normal cellular environment
  • is a novel regulator of FOXC1-mediated transcription activation
  • its up-regulation might play an important role in the metastasis of breast cancer
  • appears to act as an endogenous inhibitor of the mitochondrial permeability transition pore, most likely through binding to PPIF, and thus protects cells against oxidative stress
  • is required for functional mitoribosome formation to synthesize proteins within mitochondria
  • critical contributions of C1QBP protein to the morphology of mitochondria and ER under normal cellular conditions, as well as important roles of this protein in cellular metabolism and various stress responses
  • the key C1QBP enhances the enzymatic efficiency of RNASEH1
  • has roles in inflammation and infection processes, mitochondrial ribosome biogenesis, and regulation of apoptosis and nuclear transcription
  • CELLULAR PROCESS cell life, cell death/apoptosis
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • C1q globular
  • cell surface hyaluronic acid
  • is required for CDKN2A to localize to mitochondria and induce apoptosis, and CDKN2A mutations specifically disrupting C1QBP binding can impair both of these functions
  • significantly inhibited FOXC1-mediated transcription activation in a dose-dependent manner but did not affect FOXC1 DNA-binding ability
  • CHCHD2 protein directly interacted with hyaluronic acid-binding protein 1 (C1QBP) that possessed migration-suppressing activity
  • appears to act as an endogenous inhibitor of the mitochondrial permeability transition pore, most likely through binding to PPIF, and thus protects cells against oxidative stress
  • C11QBP could directly bind to PPIF
  • cell-surface C1QBP regulates lamellipodia formation and metastasis via receptor tyrosine kinase activation
  • C1QBP is a new rRNA maturation factor involved in the remodeling from pre-90S particles to pre-40S and pre-60S particles that requires the exchange of FBL for RRP1
  • is a novel interactor of parkin in the brain (C1QBP can regulate mitochondrial morphology and dynamics by promoting parkin degradation through autophagy) (PMID;
  • endogenous C1QBP interacts with all mitochondrial messenger RNA species
  • binds specifically to human RNASEH1, but not human RNASEH2A
  • cell & other
    REGULATION
    Phosphorylated by ATM, that directly phosphorylated C1QBP in the heart
    ASSOCIATED DISORDERS
    corresponding disease(s) COXPD33
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in 4 different human breast cancer cell lines as well as in ductal and adenocarcinoma tumors from breast cancer patients
    tumoral     --over  
    in primary ovarian carcinomas is related to a decrease overall survival (OS) and progression free survival (PFS)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • increased C1QBP expression may be a marker of benign and pathologic cell proliferation, particularly in cells of epithelial origin, with potential diagnostic and therapeutic applications
  • its over-expression in primary ovarian carcinomas may be utilized as a prognostic marker for stage III/IV patients
  • Therapy target
    SystemTypeDisorderPubmed
    cancer  
    could serve as a molecular target for cancer therapeutics
    ANIMAL & CELL MODELS
  • p32-deficient mice exhibited mid-gestation lethality associated with a severe developmental defect of the embryo