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C1qa Gene Detail
Summary
  • Symbol
    C1qa
  • Name
    complement component 1, q subcomponent, alpha polypeptide
  • Synonyms
    C1q
  • Feature Type
    protein coding gene
  • IDs
    MGI:88223
    NCBI Gene: 12259
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:136623228-136626114 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 69.05 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    157 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88223
 protein coding gene Chr4:136623227-136626155 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028975
 protein coding gene Chr4:139488898-139491784 (-)
A/J MGP_AJ_G0028934
 protein coding gene Chr4:133553990-133556782 (-)
AKR/J MGP_AKRJ_G0028886
 protein coding gene Chr4:137399324-137402116 (-)
BALB/cJ MGP_BALBcJ_G0028958
 protein coding gene Chr4:134218373-134221259 (-)
C3H/HeJ MGP_C3HHeJ_G0028672
 protein coding gene Chr4:137695676-137698562 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029399
 protein coding gene Chr4:144466891-144469777 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026670
 protein coding gene Chr4:126580754-126583592 (-)
CAST/EiJ MGP_CASTEiJ_G0028104
 protein coding gene Chr4:135845554-135848357 (-)
CBA/J MGP_CBAJ_G0028637
 protein coding gene Chr4:148458790-148461676 (-)
DBA/2J MGP_DBA2J_G0028786
 protein coding gene Chr4:133957564-133960450 (-)
FVB/NJ MGP_FVBNJ_G0028753
 protein coding gene Chr4:132917456-132920342 (-)
LP/J MGP_LPJ_G0028885
 protein coding gene Chr4:139575396-139578282 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028779
 protein coding gene Chr4:152596503-152599389 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029437
 protein coding gene Chr4:137880074-137882960 (-)
PWK/PhJ MGP_PWKPhJ_G0027824
 protein coding gene Chr4:130750086-130752878 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027650
 protein coding gene Chr4:133671764-133674654 (-)
WSB/EiJ MGP_WSBEiJ_G0028182
 protein coding gene Chr4:138038690-138041482 (-)



Homology
more
  • Human Ortholog
    C1QA, complement C1q A chain
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C1QA, complement C1q A chain
  • Synonyms
    C1QD1
  • Links
    NCBI Gene ID: 712
    neXtProt AC: NX_P02745
    UniProt: P02745

  • Chr Location
    1p36.12; chr1:22635077-22639678 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with C1qa mouse models; 1 with human C1QA associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    193 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele display absence seizures, glomerulonephritis, increased numbers of glomerular apoptotic bodies, high autoantibody titres, and increased mortality, with severity affected by genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    750
  • Tissues
    35
  • cDNA Data
    123
  • Literature Summary
    16
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000036887 Ensembl Gene Model | MGI Sequence Detail 2887 C57BL/6J ±  kb
    transcript ENSMUST00000046285 Ensembl | MGI Sequence Detail 1040 Not Applicable  
    polypeptide ENSMUSP00000048836 Ensembl | MGI Sequence Detail 245 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000004875 complement C1q subcomponent subunit A
      (term hierarchy)
    • InterPro Domains
      IPR001073 C1q domain
      IPR050392 Collagen/C1q domain-containing
      IPR008160 Collagen triple helix repeat
      IPR008983 Tumour necrosis factor-like domain superfamily
    • GlyGen
      P98086 5 sites, 8 N-linked glycans (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 129
      Genomic 5
      cDNA 123
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-1696, MGI:2140213
    References
    more
    • Summaries
      All 263
      Developmental Gene Expression 16
      Diseases 2
      Gene Ontology 13
      Phenotypes 193
    • Earliest
      J:1795 Petry F, et al., Gene expression of the A- and B-chain of mouse C1q in different tissues and the characterization of the recombinant A-chain. J Immunol. 1991 Dec 1;147(11):3988-93
    • Latest
      J:354496 Stark K, et al., Antibodies and complement are key drivers of thrombosis. Immunity. 2024 Sep 10;57(9):2140-2156.e10
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory