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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)