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C1QBP Gene

protein-coding   GIFtS: 64
GCID: GC17M005336

Complement Component 1, Q Subcomponent Binding Protein


(Previous symbol: HABP1)
  See related diseases
at  

(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 Binding Protein1 2     p332 3
HABP11 2 3 5     SF2p322
Hyaluronan-Binding Protein 11 2 3     Complement Component 1 Q Subcomponent-Binding Protein, Mitochondrial2
C1q Globular Domain-Binding Protein1 2     gC1Q-R2
Splicing Factor SF2-Associated Protein1 2     gC1qR2
Glycoprotein GC1qBP2 3     p322
Mitochondrial Matrix Protein P322 3     C1qBP3
GC1QBP2 3     SF2P323
ASF/SF2-Associated Protein P322 3     GC1q-R Protein3

External Ids:    HGNC: 12431   Entrez Gene: 7082   Ensembl: ENSG000001085617   OMIM: 6012695   UniProtKB: Q070213   

Export aliases for C1QBP gene to outside databases

Previous GC identifers: GC17M005721 GC17M005675 GC17M005280 GC17M005536 GC17M005276 GC17M005226


(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 C1QBP Gene:
The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the
serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules
and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor
SF2, as well as a hyaluronic acid-binding protein. (provided by RefSeq, Jul 2008)

GeneCards Summary for C1QBP Gene:
C1QBP (complement component 1, q subcomponent binding protein) is a protein-coding gene. Diseases associated with C1QBP include rubella, and chikungunya. GO annotations related to this gene include mRNA binding and transcription factor binding.

UniProtKB/Swiss-Prot: C1QBP_HUMAN, Q07021
Function: Is believed to be a multifunctional and multicompartmental protein involved in inflammation and
infection processes, ribosome biogenesis, regulation of apoptosis, transcriptional regulation and pre-mRNA
splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement
and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular "heads" of C1q thus
inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with
cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as
coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the
cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated
that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be
specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic
cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through
integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during
endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is
implicating the PI3K-AKT/PKB pathway. In mitochondrial translation may be involved in formation of functional 55S
mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome
maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome
particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its
phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of
CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation
of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. In infection
processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B and
Staphylococcus aureus protein A. May play a role in antibacterial defense as it can bind to cell surface
hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. Involved in replication of Rubella virus. May
be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppresion of
interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by
inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral
infection. Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA

Gene Wiki entry for C1QBP 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_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1QBP gene promoter:
         SRF   E2F-4   E2F-3a   E2F-5   E2F-1   E2F   SRF (504 AA)   E2F-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1QBP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1QBP


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.3

C1QBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QBP gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M005336:  view genomic region     (about GC identifiers)

Start:
5,336,097 bp from pter      End:
5,352,150 bp from pter
Size:
16,054 bases      Orientation:
minus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C1QBP_HUMAN, Q07021 (See protein sequence)
Recommended Name: Complement component 1 Q subcomponent-binding protein, mitochondrial precursor  
Size: 282 amino acids; 31362 Da
Subunit: Homotrimer; three monomers form a donut-shaped structure with an unusually asymmetric charge distribution
on the surface. Interacts with CDK13, HRK, VTN, NFYB, ADRA1B, FOXC1, DDX21, DDX50, NCL, SRSF1, SRSF9 and CDKN2A
isoform smARF. Interacts with CD93; the association may represent a cell surface C1q receptor. Interacts with
KRT1; the association represents a cell surface kininogen receptor. Interacts with CD209; the interaction is
indicative for a C1q:C1QBP:CD209 signaling complex. Interacts with FBL and RRP1; the respective interactions with
C1QBP are competetive. Probably associates with the mitoribosome. Interacts with MAVS; the interaction occurs
upon viral transfection. Interacts with PPIF. Interacts with Rubella virus capsid protein; the interaction occurs
in mitochondria. Interacts with Rubella virus protease p150, Staphylococcus aureus protein A/spa, HIV-1 Tat and
HCV core protein
Caution: The subcellular location has been matter of debate. After being reported to be exclusively localized to
mitochondria, demonstrations of promiscuous associations and locations have been rather considered as artifactual
due to the extremely acidic character and the use of different tagged versions of the protein (PubMed:9305894,
PubMed:11493647). However, by now the location to multiple compartments linked to diverse functions is accepted.
The N-termini of the surface and secreted forms are identical to the reported processed mitochonddrial form
2 PDB 3D structures from and Proteopedia for C1QBP:
1P32 (3D)        3RPX (3D)    
Secondary accessions: Q2HXR8 Q9NNY8

Explore the universe of human proteins at neXtProt for C1QBP: NX_Q07021

Explore proteomics data for C1QBP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys104
  • Modification sites at PhosphoSitePlus

  • See C1QBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001203.1  
    ENSEMBL proteins: 
     ENSP00000225698   ENSP00000460308   ENSP00000460638   ENSP00000458624  
    Reactome Protein details: Q07021

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    C1QBP Antibody Products:

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    C1QBP Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003428 MAM33

    Graphical View of Domain Structure for InterPro Entry Q07021

    ProtoNet protein and cluster: Q07021

    1 Blocks protein domain: IPB003428 Mitochondrial glycoprotein

    UniProtKB/Swiss-Prot: C1QBP_HUMAN, Q07021
    Similarity: Belongs to the MAM33 family


    C1QBP 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.)
    About This Section

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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1QBP_HUMAN, Q07021
    Function: Is believed to be a multifunctional and multicompartmental protein involved in inflammation and
    infection processes, ribosome biogenesis, regulation of apoptosis, transcriptional regulation and pre-mRNA
    splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement
    and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular "heads" of C1q thus
    inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with
    cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as
    coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the
    cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated
    that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be
    specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic
    cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through
    integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during
    endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is
    implicating the PI3K-AKT/PKB pathway. In mitochondrial translation may be involved in formation of functional 55S
    mitoribosomes; the function seems to involve its RNA-binding activity. May be involved in the nucleolar ribosome
    maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome
    particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its
    phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of
    CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation
    of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. In infection
    processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B and
    Staphylococcus aureus protein A. May play a role in antibacterial defense as it can bind to cell surface
    hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. Involved in replication of Rubella virus. May
    be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppresion of
    interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by
    inhibiting DDX58- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral
    infection. Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA
    Induction: Enhanced cell surface expression upon platelet and monocyte activation

         Genatlas biochemistry entry for C1QBP:
    multifunctional protein,C1q globular binding protein,33kDa,cell surface hyaluronic acid-binding protein
    1,hyaladherin family,pre-mRNA splicing factor SP2 p32 subunit,localized predominantly in mitochondrial
    matrix,putatively involved in nucleus-mitochondrion interactions,see C1Q@

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001849complement component C1q binding IDA8195709
    GO:0003714transcription corepressor activity IDA15243141
    GO:0003729mRNA binding ISS--
    GO:0005080protein kinase C binding IEA--
    GO:0005515protein binding IPI10831594
         
    C1QBP for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 3 alleles(MGI details for C1qbp):
     behavior/neurological  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  no phenotypic analysis 

    C1QBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out C1qbptm1.1Tuch for C1QBP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1QBP
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1QBP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C1QBP

    miRNA
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    miRTarBase miRNAs that target C1QBP:
    hsa-mir-30b-5p (MIRT046146), hsa-mir-378a-5p (MIRT043977), hsa-mir-484 (MIRT041959), hsa-mir-301a-3p (MIRT044216), hsa-mir-93-3p (MIRT038789), hsa-mir-1274a (MIRT035840), hsa-mir-375 (MIRT001752), hsa-mir-30a-3p (MIRT049921), hsa-mir-30c-5p (MIRT048001)

    Block miRNA regulation of human, mouse, rat C1QBP using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate C1QBP:
    hsa-miR-3926 hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidC1QBP 3' UTR sequence
    Inhib. RNA
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    (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
    C1QBP_HUMAN, Q07021: Mitochondrion matrix. Nucleus. Cell membrane; Peripheral membrane protein; Extracellular
    side. Secreted. Cytoplasm. Nucleus, nucleolus. Note=Seems to be predominantly localized to mitochondria. Secreted
    by activated lymphocytes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    extracellular5
    mitochondrion5
    nucleus5
    plasma membrane5

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IEA--
    GO:0005634nucleus IDA15243141
    GO:0005730nucleolus IEA--
    GO:0005737cytoplasm ISS--
    GO:0005739mitochondrion IDA19164550

    C1QBP 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 C1QBP About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Intrinsic Pathway0.00
    2Hemostasis
    Hemostasis0.43
    3Influenza A
    Herpes simplex infection0.33
    4fMLP Pathway
    Internalin Pathway0.31
    5Complement Pathway
    Complement Activation Pathways0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for C1QBP
        Internalin Pathway

    2 Cell Signaling Technology (CST) Pathways for C1QBP
        Lymphocyte Signaling
    Glucose / Energy Metabolism

    1 Sino Biological Pathway for C1QBP
        Complement Activation Pathways

    1 Reactome Pathway for C1QBP
        Intrinsic Pathway


    1 Kegg Pathway  (Kegg details for C1QBP):
        Herpes simplex infection


    C1QBP for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C1QBP
    Interactions:

        GeneGlobe Interaction Network for C1QBP

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

    Selected Interacting proteins for C1QBP (Q070211, 2, 3 ENSP000002256984) via UniProtKB, MINT, STRING, and/or I2D (see all 450)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225748P486342, 3, ENSP000003874774MINT-62735 MINT-62637 MINT-62811 I2D: score=5 STRING: ENSP00000387477
    ENSG00000231825P486342, 3, ENSP000004153634MINT-62735 MINT-62637 MINT-62811 I2D: score=5 STRING: ENSP00000415363
    ENSG00000206427P486342, 3MINT-62735 MINT-62637 MINT-62811 I2D: score=5 
    ENSG00000225164P486342, 3MINT-62735 MINT-62637 MINT-62811 I2D: score=5 
    ENSG00000226618P486342, 3MINT-62735 MINT-62637 MINT-62811 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA15243141
    GO:0006351transcription, DNA-templated IEA--
    GO:0006397mRNA processing IEA--
    GO:0006915apoptotic process IEA--
    GO:0006955immune response TAS8195709

    C1QBP 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
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    Browse Tocris compounds for C1QBP

    Selected Novoseek inferred chemical compound relationships for C1QBP gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kininogen 90.6 21 15467913 (2), 10596854 (1), 10614982 (1), 11204562 (1) (see all 18)
    sulfosuccinimidyl 6-(biotinamido)hexanoate 74.6 3 11414365 (1), 9777408 (1)
    biotin 36.7 5 11414365 (1), 9777408 (1), 14691569 (1)
    zinc 32.1 15 12213329 (5), 8710908 (2), 10596854 (1), 11307009 (1) (see all 5)
    mannose 25.1 5 7706463 (1), 11784324 (1), 11568477 (1)
    heparan sulfate 18 3 15060982 (1), 14629481 (1)
    glutaraldehyde 15 2 9777408 (1), 11784324 (1)
    fibrinogen 6.94 15 10075865 (8)
    calcium 0 1 7706463 (1)
    gold 0 2 11083468 (1)



    C1QBP for compounds           About GeneDecksing



    (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,
    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 C1QBP gene: 
    NM_001212.3  

    Unigene Cluster for C1QBP:

    Complement component 1, q subcomponent binding protein
    Hs.555866  [show with all ESTs]
    Unigene Representative Sequence: BF972145
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225698(uc002gby.1) ENST00000574444 ENST00000570805 ENST00000573204
    ENST00000573421 ENST00000573406 ENST00000576122
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    SwitchGear 3'UTR luciferase reporter plasmidC1QBP 3' UTR sequence
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    Additional mRNA sequence: 

    AF275902.1 AJ297362.1 AK291516.1 BC000435.2 BC013731.1 BT019898.1 BT019899.1 L04636.1 
    X75913.1 

    Selected DOTS entries (see all 33):

    DT.100880016  DT.95085802  DT.219474  DT.100880034  DT.100880026  DT.100880014  DT.95085780  DT.95085777 
    DT.100039340  DT.120977766  DT.120977882  DT.100880025  DT.100880035  DT.100880037  DT.97864145  DT.100880015 
    DT.100880019  DT.100880029  DT.101985486  DT.120977769  DT.92460853  DT.95085723  DT.95085776  DT.95085778 

    Selected AceView cDNA sequences (see all 690):

    AA992698 BM853068 BE618944 BF797152 BQ921737 AA282383 BG763602 BM706205 
    BU159351 CR617810 BG028661 BM456346 BM423854 BC000435 BM142197 CR613532 
    BQ057826 BQ651415 BM478894 BM273132 CB216394 BQ232626 L04636 NM_020162 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C1QBP (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:                    -     -     -                             -                                 
    SP2:                                -                             -                                 
    SP3:                    -     -     -                             -     -                           
    SP4:                    -     -     -                 -           -                                 
    SP5:                    -     -     -                                                               


    ECgene alternative splicing isoforms for C1QBP

    (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)
    About This Section

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    C1QBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATAGACATAA
    C1QBP Expression
    About this image


    C1QBP 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
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    C1QBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1QBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.555866

    UniProtKB/Swiss-Prot: C1QBP_HUMAN, Q07021
    Tissue specificity: Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is
    reported for macrophages and monocyte-derived dendritic cells

        Custom PCR Arrays for C1QBP
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QBP

    (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)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for C1QBP gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1qbp1 , 5 complement component 1, q subcomponent binding protein1, 5 84.35(n)1
    86.38(a)1
      11 (43.21 cM)5
    122611  NM_007573.21  NP_031599.21 
     709778365 
    chicken
    (Gallus gallus)
    Aves C1QBP1 complement component 1, q subcomponent binding protein 74.88(n)
    83.25(a)
      395538  XM_415748.4  XP_415748.4 
    lizard
    (Anolis carolinensis)
    Reptilia C1QBP6
    complement component 1, q subcomponent binding pro...
    67(a)
    1 ↔ 1
    GL344715.1(15096-22955)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984322 similar to complement component 1, q subcomponent binding more 76.22(n)    BC056846.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb7852 sbcb785 75.92(n)   378739  57088855 
    fruit fly
    (Drosophila melanogaster)
    Insecta P321 P32 49.46(n)
    37.1(a)
      37006  NM_137399.3  NP_611243.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cri-31 cri-3 42.65(n)
    29.81(a)
      175441  NM_065300.4  NP_497701.1 


    ENSEMBL Gene Tree for C1QBP (if available)
    TreeFam Gene Tree for C1QBP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1QBP gene

    C1QBP for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for C1QBP
    PGOHUM00000242332 PGOHUM00000247078 PGOHUM00000239044


    (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)
    About This Section

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    Selected SNPs for C1QBP (see all 198)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011243201,2
    --5336940(+) AGGGAC/TACACT 1 -- int10--------
    rs1126509931,2
    C--5336946(+) ACACTA/C/GTTCCC 1 -- int11CSA 2
    rs1489531071,2
    C--5337039(+) ATCATC/GATTCT 2 H D mis10--------
    rs1998432131,2
    --5337044(+) CATTCC/TTTATA 2 K R mis10--------
    rs1478009851,2
    C,F--5337047(+) TCTTTA/TTAACT 2 K I mis12Minor allele frequency- T:0.00NA EU 5873
    rs2020986831,2
    --5337048(+) CTTTAA/TAACTT 2 I L mis10--------
    rs2014151631,2
    --5337126(+) TGGAAA/GGAGAT 1 -- int10--------
    rs22857471,2
    C,F,A,H--5337137(+) GGATGC/GCTGGA 1 -- int119Minor allele frequency- G:0.44EA MN NS NA CSA WA 3999
    rs1891709851,2
    --5337155(+) TCTCTG/TTTCAG 1 -- int10--------
    rs1470750981,2
    --5337202(+) GCCATC/TTGAAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for C1QBP (5336097 - 5352150 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C1QBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2673035CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1QBP
    DNA2.0 Custom Variant and Variant Library Synthesis for C1QBP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601269    OMIM disorders: --

    Selected diseases for C1QBP (see all 32):    
    About MalaCards
    rubella    chikungunya    endocarditis    cryoglobulinemia
    neuronal ceroid lipofuscinosis    hepatitis c virus    hepatitis c    brain cancer
    childhood leukemia    malaria    atherosclerosis    meningioma
    pneumonia    endotheliitis    cervical cancer    hepatitis
    herpes simplex    hiv-1    cervicitis    tonsillitis

    2 diseases from the University of Copenhagen DISEASES database for C1QBP:
    Neuronal ceroid lipofuscinosis     Cancer

    C1QBP for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for C1QBP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis c 39 4 15163734 (2), 16306613 (1), 11673541 (1)
    inflammation 8.06 12 15234555 (2), 16893067 (2), 15467913 (2), 12574814 (1) (see all 5)
    endocarditis 6.35 1 17544818 (1)
    virus infection 5.64 1 11318594 (1)
    cancer 5.22 3 18757437 (1)
    necrosis 0 2 11810192 (1)
    thrombosis 0 7 15234555 (2), 12574814 (1), 10722602 (1)
    atherosclerosis 0 3 15234555 (1), 16893067 (1)
    tumors 0 28 18757437 (4), 19565630 (2), 12220632 (1), 11773076 (1) (see all 6)
    immunodeficiency 0 4 9305894 (2), 8189522 (1), 8626563 (1)

    Genetic Association Database (GAD): C1QBP
    Human Genome Epidemiology (HuGE) Navigator: C1QBP (8 documents)

    Export disorders for C1QBP 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 C1QBP gene, integrated from 10 sources (see all 216):
    (articles sorted by number of sources associating them with C1QBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of human fibroblast hyaluronic acid-binding protein confirms its identity with P-32, a protein co-purified with splicing factor SF2. Hyaluronic acid-binding protein as P-32 protein, co- purified with splicing factor SF2. (PubMed id 8567680)1, 2, 3, 9 Deb T.B. and Datta K. (J. Biol. Chem. 1996)
    2. Isolation, cDNA cloning, and overexpression of a 33-kD cell surface glycoprotein that binds to the globular 'heads' of C1q. (PubMed id 8195709)1, 2, 3 Ghebrehiwet B.... Reid K.B. (J. Exp. Med. 1994)
    3. Inhibition of RIG-I and MDA5-dependent antiviral response by gC1qR at mitochondria. (PubMed id 19164550)1, 2, 9 Xu L.... Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    4. Human p32, interacts with B subunit of the CCAAT-binding factor, CBF/NF-Y, and inhibits CBF-mediated transcription activation in vitro. (PubMed id 15243141)1, 2, 9 Chattopadhyay C.... Maity S.N. (Nucleic Acids Res. 2004)
    5. Activation-dependent surface expression of gC1qR/p33 on human blood platelets. (PubMed id 12574814)1, 2, 9 Peerschke E.I.... Ghebrehiwet B. (Thromb. Haemost. 2003)
    6. The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation. (PubMed id 10022843)1, 2, 9 Petersen-Mahrt S.K.... Akusjarvi G. (EMBO J. 1999)
    7. Crystal structure of human p32, a doughnut-shaped acidic mitochondrial matrix protein. (PubMed id 10097078)1, 2, 9 Jiang J.... Xu R.-M. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    8. Identification of the zinc-dependent endothelial cell binding protein for high molecular weight kininogen and factor XII: identity with the receptor that binds to the globular 'heads' of C1q (gC1q-R). (PubMed id 8710908)1, 2, 9 Joseph K.... Kaplan A.P. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    9. Evidence for inhibitory interaction of hyaluronan-binding protein 1 (HABP1/p32/gC1qR) with Streptococcus pneumoniae hyaluronidase. (PubMed id 19004836)1, 2, 9 Yadav G.... Datta K. (J. Biol. Chem. 2009)
    10. HCV core protein interaction with gC1q receptor inhibits Th1 differentiation of CD4+ T cells via suppression of dendritic cell IL- 12 production. (PubMed id 17881511)1, 2, 9 Waggoner S.N.... Hahn Y.S. (J. Leukoc. Biol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 708 HGNC: 1243 AceView: C1QBPandDHX33 Ensembl:ENSG00000108561 euGenes: HUgn708
    ECgene: C1QBP Kegg: 708 H-InvDB: C1QBP

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for C1QBP Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/c1qbp/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1QBP gene:
    Search GeneIP for patents involving C1QBP

    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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