C1QA (complement C1q A chain)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 712
Gene name Complement C1q A chain
Gene symbol C1QA
Synonyms (NCBI Gene)
C1QD1
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs34139950 G>A Pathogenic Stop gained, coding sequence variant
rs121909581 C>T Pathogenic Stop gained, coding sequence variant
rs1570073403 G>A Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (22)
miRTarBase ID miRNA Experiments Reference
MIRT017487 hsa-miR-335-5p Microarray 18185580
MIRT842126 hsa-miR-1275 CLIP-seq
MIRT842127 hsa-miR-1293 CLIP-seq
MIRT842128 hsa-miR-3667-3p CLIP-seq
MIRT842129 hsa-miR-4292 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding TAS 15269255
GO:0001774 Process Microglial cell activation IEA
GO:0001774 Process Microglial cell activation ISS
GO:0001786 Function Phosphatidylserine binding IDA 18250442
GO:0001791 Function IgM binding IDA 12847249, 19006321
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120550 1241 ENSG00000173372
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02745
Protein name Complement C1q subcomponent subunit A
Protein function Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the ada
PDB 1PK6 , 2JG8 , 2JG9 , 2WNU , 2WNV , 5HKJ , 5HZF , 6FCZ , 6Z6V , 9C9L , 9C9U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 59 → 112 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 116 → 241 C1q domain Domain
Sequence
Sequence length 245
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Efferocytosis
Complement and coagulation cascades
Alcoholic liver disease
Prion disease
Pertussis
Chagas disease
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus 		  Initial triggering of complement
Classical antibody-mediated complement activation
Regulation of Complement cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1Q deficiency Likely pathogenic; Pathogenic rs952339666, rs121909581, rs34139950, rs1570073403, rs1642221044 RCV001806361
RCV000018602
RCV000508985
RCV001028023
RCV001251118
C1Q deficiency 1 Likely pathogenic rs1570073403 RCV003984847
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1QA-related disorder Likely benign; Benign rs761744728, rs17887074 RCV003901499
RCV003983147
Show/Hide Text Mining Associations (127)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Stimulate 35085285
Alzheimer Disease Associate 14751769, 37480051, 39188714
Alzheimer Disease Stimulate 34795060
Amyloid Neuropathies Familial Associate 31019999
Anemia Aplastic Inhibit 30569170
Angioedemas Hereditary Associate 33388640
Arthritis Rheumatoid Associate 23607884, 32253242
Atherosclerosis Associate 20833838, 31739194, 31824501, 35085285, 36705413, 39188714
Atrial Fibrillation Associate 36341343
Atrophy Associate 34160562