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    C1qbp complement component 1, q subcomponent binding protein [ Mus musculus (house mouse) ]

    Gene ID: 12261, updated on 21-Apr-2024

    Summary

    Official Symbol
    C1qbpprovided by MGI
    Official Full Name
    complement component 1, q subcomponent binding proteinprovided by MGI
    Primary source
    MGI:MGI:1194505
    See related
    Ensembl:ENSMUSG00000018446 AllianceGenome:MGI:1194505
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    P32; HABP1; gC1qBP; D11Wsu182e
    Summary
    Enables mRNA binding activity and mitochondrial ribosome binding activity. Involved in mature ribosome assembly and positive regulation of mitochondrial translation. Located in mitochondrion. Is expressed in several structures, including alimentary system; axial musculature; brain ventricular layer; genitourinary system; and orbito-sphenoid. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 33. Orthologous to human C1QBP (complement C1q binding protein). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in adrenal adult (RPKM 411.1), stomach adult (RPKM 150.3) and 24 other tissues See more
    Orthologs
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    Genomic context

    Location:
    11 B4; 11 43.21 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (70868672..70873852, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (70977846..70983026, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene rabaptin, RAB GTPase binding effector protein 1 Neighboring gene predicted gene 12322 Neighboring gene nucleoporin 88 Neighboring gene STARR-seq mESC enhancer starr_29882 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70783671-70783780 Neighboring gene RPA interacting protein Neighboring gene DEAH-box helicase 33 Neighboring gene STARR-positive B cell enhancer ABC_E2359 Neighboring gene predicted gene, 22297 Neighboring gene STARR-positive B cell enhancer ABC_E256 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:70833281-70833468 Neighboring gene Der1-like domain family, member 2 Neighboring gene MIS12 kinetochore complex component

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Targeted (5)  1 citation
    • Endonuclease-mediated (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables adrenergic receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables complement component C1q complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables complement component C1q complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables enzyme inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables hyaluronic acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kininogen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables kininogen binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mitochondrial ribosome binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase C binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription corepressor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transcription corepressor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cytosolic ribosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cytosolic ribosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytosolic ribosome assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MDA-5 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of RIG-I signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of defense response to virus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of double-strand break repair via homologous recombination ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of interleukin-12 production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of type II interferon production ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of dendritic cell chemotaxis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mitochondrial translation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neutrophil chemotaxis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of substrate adhesion-dependent cell spreading ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of trophoblast cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of complement activation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynaptic active zone ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    complement component 1 Q subcomponent-binding protein, mitochondrial
    Names
    GC1q-R protein
    glycoprotein gC1qBP

    NCBI Reference Sequences (RefSeq)

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    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_007573.2NP_031599.2  complement component 1 Q subcomponent-binding protein, mitochondrial

      See identical proteins and their annotated locations for NP_031599.2

      Status: VALIDATED

      Source sequence(s)
      AK010601, BY275303, CF381952
      Consensus CDS
      CCDS24970.1
      UniProtKB/Swiss-Prot
      O35658
      UniProtKB/TrEMBL
      Q8R5L1
      Related
      ENSMUSP00000077612.7, ENSMUST00000078528.7
      Conserved Domains (1) summary
      pfam02330
      Location:87270
      MAM33; Mitochondrial glycoprotein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      70868672..70873852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)