C1QA (complement C1q A chain)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
712
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C1q A chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1QA
Synonyms (NCBI Gene) Gene synonyms aliases
C1QD1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Other IDs 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.
Gene SNPs Other IDs 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 information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(47)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
120550 1241 ENSG00000173372
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
C1q Deficiency c1q deficiency rs121909581, rs34139950, rs1570073403 N/A
Show/Hide Text Mining Associations (127)
Associations from Text Mining Disease 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