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    C1QBP complement C1q binding protein [ Homo sapiens (human) ]

    Gene ID: 708, updated on 8-Jul-2021

    Summary

    Official Symbol
    C1QBPprovided by HGNC
    Official Full Name
    complement C1q binding proteinprovided by HGNC
    Primary source
    HGNC:HGNC:1243
    See related
    Ensembl:ENSG00000108561 MIM:601269
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p32; HABP1; gC1qR; GC1QBP; SF2p32; gC1Q-R; COXPD33; SF2AP32
    Summary
    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]
    Expression
    Ubiquitous expression in colon (RPKM 56.9), kidney (RPKM 48.1) and 25 other tissues See more
    Orthologs
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    Genomic context

    See C1QBP in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (5432777..5439155, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (5336097..5342475, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene rabaptin, RAB GTPase binding effector protein 1 Neighboring gene uncharacterized LOC105371505 Neighboring gene nucleoporin 88 Neighboring gene RPA interacting protein Neighboring gene DEAH-box helicase 33 Neighboring gene DHX33 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Combined oxidative phosphorylation deficiency 33
    MedGen: C4540209 OMIM: 617713 GeneReviews: Not available
    Compare labs
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of C1q globular domain-binding protein in umbilical cord blood mononuclear cells PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 S3 motif engages gC1qR on CD4+ T cells to induce the expression of an NK ligand (NKp44L) through the PIP3/H2O2 pathway PubMed
    Rev rev Human p32 protein relieves a post-transcriptional block to HIV-1 replication in murine cells by restoring HIV-1 Rev function PubMed
    rev Rev binding to p32 is associated with the function of Rev in inhibiting the splicing of HIV-1 mRNA by splicing factors ASF/SF2 PubMed
    rev Rev bridges the association of p32 with RRE RNA PubMed
    rev p32 binds to the basic domain of HIV-1 Rev (amino acids 35-50) PubMed
    Tat tat Splicing factor SF2-associated protein p32 preferentially binds acetylated HIV-1 Tat and co-localizes with Tat in HIV-1 infected cells PubMed
    tat Using a yeast two-hybrid system, the splicing factor SF2-associated protein p32 has been shown to bind to the basic domain of HIV-1 Tat (amino acids 47-59), suggesting a role for p32 in mediating the biological activity of Tat during HIV-1 replication PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of complement component 1, q subcomponent binding protein (C1QBP) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adrenergic receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables complement component C1q complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables complement component C1q complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hyaluronic acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables kininogen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables kininogen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables mitochondrial ribosome binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase C binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mature ribosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in mature ribosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of MDA-5 signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of RIG-I signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of defense response to virus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of interferon-gamma production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of interleukin-12 production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phosphatidylinositol 3-kinase signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of dendritic cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mitochondrial translation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of neutrophil chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein kinase B signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of substrate adhesion-dependent cell spreading IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of trophoblast cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of complement activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in presynaptic active zone IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    complement component 1 Q subcomponent-binding protein, mitochondrial
    Names
    ASF/SF2-associated protein p32
    C1q globular domain-binding protein
    complement component 1, q subcomponent binding protein
    glycoprotein gC1qBP
    hyaluronan-binding protein 1
    mitochondrial matrix protein p32
    p33
    splicing factor SF2-associated protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001212.4NP_001203.1  complement component 1 Q subcomponent-binding protein, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001203.1

      Status: REVIEWED

      Source sequence(s)
      AC004148, L04636
      Consensus CDS
      CCDS11071.1
      UniProtKB/Swiss-Prot
      Q07021
      Related
      ENSP00000225698.4, ENST00000225698.8
      Conserved Domains (1) summary
      pfam02330
      Location:89273
      MAM33; Mitochondrial glycoprotein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      5432777..5439155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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