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    C1qa complement component 1, q subcomponent, alpha polypeptide [ Mus musculus (house mouse) ]

    Gene ID: 12259, updated on 2-Nov-2024

    Summary

    Official Symbol
    C1qaprovided by MGI
    Official Full Name
    complement component 1, q subcomponent, alpha polypeptideprovided by MGI
    Primary source
    MGI:MGI:88223
    See related
    Ensembl:ENSMUSG00000036887 AllianceGenome:MGI:88223
    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
    C1q; Adic
    Summary
    Involved in complement-mediated synapse pruning; glial cell activation; and nervous system development. Acts upstream of or within complement activation, classical pathway. Located in postsynapse. Is active in glutamatergic synapse. Is extrinsic component of postsynaptic membrane and extrinsic component of presynaptic membrane. Is expressed in several structures, including brain; genitourinary system; lung; pancreas; and vestibular component mesenchyme. Used to study epilepsy and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in glomerulonephritis. Orthologous to human C1QA (complement C1q A chain). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in mammary gland adult (RPKM 87.8), spleen adult (RPKM 86.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See C1qa in Genome Data Viewer
    Location:
    4 D3; 4 69.05 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (136623227..136626155, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (136895916..136898844, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene complement component 1, q subcomponent, beta polypeptide Neighboring gene STARR-seq mESC enhancer starr_11774 Neighboring gene complement component 1, q subcomponent, C chain Neighboring gene Eph receptor A8 Neighboring gene zinc finger and BTB domain containing 40 Neighboring gene predicted gene, 23834

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data 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)
    • Endonuclease-mediated (7) 
    • Targeted (6)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    part_of complement component C1 complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of complement component C1q complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    is_active_in extrinsic component of postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in extrinsic component of presynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynapse IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    complement C1q subcomponent subunit A
    Names
    adiponectin c

    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_007572.2NP_031598.2  complement C1q subcomponent subunit A precursor

      See identical proteins and their annotated locations for NP_031598.2

      Status: VALIDATED

      Source sequence(s)
      AK002655, BY318890, BY698724
      Consensus CDS
      CCDS18812.1
      UniProtKB/Swiss-Prot
      P98086, Q9DCM6
      UniProtKB/TrEMBL
      A0A3B0IP04, Q3TXB1, Q3UBX7
      Related
      ENSMUSP00000048836.6, ENSMUST00000046285.6
      Conserved Domains (2) summary
      smart00110
      Location:108244
      C1Q; Complement component C1q domain
      pfam01391
      Location:2996
      Collagen; Collagen triple helix repeat (20 copies)

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      136623227..136626155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)