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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
  • Gene Overview
    MyGene.info: C1QA
Location & Maps
more
  • Sequence Map
    Chr4:136895917-136898803 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2887 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 69.05 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    C1QA, complement C1q A chain
  • Vertebrate Orthologs
    9
  • Human Ortholog
    C1QA, complement C1q A chain
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 712
    neXtProt AC: NX_P02745

  • Chr Location
    1p36.12; chr1:22636625-22639682 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with C1qa mouse models; 1 with human C1QA associations

Human Disease Mouse Models
       Systemic Lupus Erythematosus; SLE   OMIM: 152700 View 1 model
       C1q Deficiency; C1QD   OMIM: 613652
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 3 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    113 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.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    2
  • Targeted
    7
  • Genomic Mutations
    3 involving C1qa
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009765 VEGA Gene Model | MGI Sequence Detail 2887 C57BL/6J ±  kb
transcript OTTMUST00000022609 VEGA | MGI Sequence Detail 1040 Not Applicable  
polypeptide OTTMUSP00000010321 VEGA | MGI Sequence Detail 245 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    75 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004875 complement C1q subcomponent subunit A
  • InterPro Domains
    IPR001073 C1q domain
    IPR008160 Collagen triple helix repeat
    IPR008983 Tumour necrosis factor-like domain
Molecular
Reagents
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  • All nucleic 126
    Genomic 5
    cDNA 121

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-1696, MGI:2140213
References
more
  • Summaries
    All 148
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 4
    Phenotypes 113
  • 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:230898 Kim C, et al., The alternative complement pathway aids in vascular regression during the early stages of a murine model of proliferative retinopathy. FASEB J. 2016 Mar;30(3):1300-5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory