• Gene id: 712

Gene Summary

• Gene Symbol: C1QA   Gene   UCSC   Ensembl
• Gene name: complement C1q A chain
• Alternate names: complement C1q subcomponent subunit A, complement C1q chain A, complement component 1, q subcomponent, A chain, complement component 1, q subcomponent, alpha polypeptide, complement component C1q, A chain,
• Gene location: 1p36.12 (22636627: 22639681)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 609063

SNPs

rs17840762

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241708G>A
NC_000009.11   g.128003987G>A
NG_027761.1   g.4680C>T
NG_063123.1   g.439G>A
XR_001746927.1   n.46G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs17840761

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.125241700G>A
NC_000009.11   g.128003979G>A
NG_027761.1   g.4688C>T
NG_063123.1   g.431G>A
XR_001746927.1   n.38G>A|SEQ=[G/A]|GENE=HSPA5
LOC107987127   107987127

rs7004637

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000008.11   g.42392929A>G
NC_000008.10   g.42250447A>G|SEQ=[A/G]|GENE=VDAC3
DKK4   27121

rs3216733

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000009.12   g.125241516_125241517del
NC_000009.12   g.125241517del
NC_000009.12   g.125241517dup
NC_000009.12   g.125241516_125241517dup
NC_000009.11   g.128003795_128003796del
NC_000009.11   g.128003796del
NC_000009.11   g.128003796dup
NC_000009.11   g.128003795

rs1800629

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575254G>A
NC_000006.11   g.31543031G>A
NG_007462.1   g.4682G>A
NG_012010.1   g.8156G>A
NT_113891.3   g.3052541A>G
NT_113891.2   g.3052647A>G
NT_167246.2   g.2880295G>A
NT_167246.1   g.2885915G>A
NT_167249.2   g.2874534G>A
NT_167249.1   g.2873832G>A
NT  

rs1799964

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs1800750

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575186G>A
NC_000006.11   g.31542963G>A
NG_007462.1   g.4614G>A
NG_012010.1   g.8088G>A
NT_113891.3   g.3052473G>A
NT_113891.2   g.3052579G>A
NT_167246.2   g.2880227G>A
NT_167246.1   g.2885847G>A
NT_167249.2   g.2874466G>A
NT_167249.1   g.2873764G>A
NT  

rs361525

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.31575324G>A
NC_000006.11   g.31543101G>A
NG_007462.1   g.4752G>A
NG_012010.1   g.8226G>A
NT_113891.3   g.3052611G>A
NT_113891.2   g.3052717G>A
NT_167246.2   g.2880365G>A
NT_167246.1   g.2885985G>A
NT_167249.2   g.2874604G>A
NT_167249.1   g.2873902G>A
NT  

rs5764698

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.45354103G>C
NC_000022.11   g.45354103G>T
NC_000022.10   g.45749983G>C
NC_000022.10   g.45749983G>T
NM_148674.5   c.3148C>G
NM_148674.5   c.3148C>A
NM_148674.4   c.3148C>G
NM_148674.4   c.3148C>A
NM_148674.3   c.3148C>G
NM_148674.3   c.3148C>A
XR_244368.  

Protein Summary

• Protein general information: P02745  
  • Name: Complement C1q subcomponent subunit A
  • Length: 245  
  • Mass: 26017
• Sequence:

  MEGPRGWLVLCVLAISLASMVTEDLCRAPDGKKGEAGRPGRRGRPGLKGEQGEPGAPGIRTGIQGLKGDQGEPGP
  SGNPGKVGYPGPSGPLGARGIPGIKGTKGSPGNIKDQPRPAFSAIRRNPPMGGNVVIFDTVITNQEEPYQNHSGR
  FVCTVPGYYYFTFQVLSQWEICLSIVSSSRGQVRRSLGFCDTTNKGLFQVVSGGMVLQLQQGDQVWVEKDPKKGH
  IYQGSEADSVFSGFLIFPSA

• Structural information:
  • Protein Domains: (31..10-)
    (/note="Collagen-like-)
    (110..24-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR037572  IPR008983  
  • Prosite: PS50871
  • PDB: 1PK6 2JG8 2JG9 2WNU 2WNV 5HKJ 5HZF 6FCZ
  • PDBsum: 1PK6 2JG8 2JG9 2WNU 2WNV 5HKJ 5HZF 6FCZ
  • STRING: ENSP00000363773
• Other Databases: GeneCards:  C1QA  Malacards:  C1QA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0007568	aging	ISS	biological process
GO:1901216	positive regulation of neuron death	ISS	biological process
GO:0150064	vertebrate eye-specific patterning	ISS	biological process
GO:0098883	synapse pruning	ISS	biological process
GO:0005623	obsolete cell	ISS	cellular component
GO:0005623	obsolete cell	ISS	cellular component
GO:0005623	obsolete cell	ISS	cellular component
GO:0150062	complement-mediated synapse pruning	ISS	biological process
GO:0098794	postsynapse	ISS	cellular component
GO:0016322	neuron remodeling	ISS	biological process
GO:0050808	synapse organization	ISS	biological process
GO:0045202	synapse	ISS	cellular component
GO:0048143	astrocyte activation	ISS	biological process
GO:0001774	microglial cell activation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005602	complement component C1 complex	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0006958	complement activation, classical pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005623	obsolete cell	IEA	cellular component
GO:0007568	aging	IEA	biological process
GO:0016322	neuron remodeling	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0098883	synapse pruning	IEA	biological process
GO:0150064	vertebrate eye-specific patterning	IEA	biological process
GO:0005623	obsolete cell	IEA	cellular component
GO:0001774	microglial cell activation	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0048143	astrocyte activation	IEA	biological process
GO:0150062	complement-mediated synapse pruning	IEA	biological process
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:0010039	response to iron ion	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05322	Systemic lupus erythematosus
hsa05142	Chagas disease
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis
hsa05020	Prion diseases

Diseases

Associated diseases	References
Allergic contact dermatitis	KEGG:H01357
Classic complement pathway component defects	KEGG:H00102
Allergic contact dermatitis	KEGG:H01357
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq