• Gene id: 714

Gene Summary

• Gene Symbol: C1QC   Gene   UCSC   Ensembl
• Aliases: C1Q-C, C1QG
• Gene name: complement C1q C chain
• Alternate names: complement C1q subcomponent subunit C, complement component 1, q subcomponent, C chain, complement component 1, q subcomponent, gamma polypeptide,
• Gene location: 1p36.12 (22643632: 22648107)     Exons: 3     NC_000001.11
• Gene summary(Entrez): This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, a
• OMIM: 120575

SNPs

rs62180545

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

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

rs1893316

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

NC_000011.10   g.66026326G>A
NC_000011.9   g.65793797G>A
NG_016285.1   g.5192C>T
NM_053054.4   c.54C>T
NM_053054.3   c.54C>T
XR_949785.2   n.192C>T
XR_949787.2   n.193C>T
XR_002957121.1   n.192C>T
XR_002957122.1   n.193C>T|SEQ=[G/A]|GENE=CATSPER1

Protein Summary

• Protein general information: P02747  
  • Name: Complement C1q subcomponent subunit C
  • Length: 245  
  • Mass: 25774
• Sequence:

  MDVGPSSLPHLGLKLLLLLLLLPLRGQANTGCYGIPGMPGLPGAPGKDGYDGLPGPKGEPGIPAIPGIRGPKGQK
  GEPGLPGHPGKNGPMGPPGMPGVPGPMGIPGEPGEEGRYKQKFQSVFTVTRQTHQPPAPNSLIRFNAVLTNPQGD
  YDTSTGKFTCKVPGLYYFVYHASHTANLCVLLYRSGVKVVTFCGHTSKTNQVNSGGVLLRLQVGEEVWLAVNDYY
  DMVGIQGSDSVFSGFLLFPD

• Structural information:
  • Protein Domains: (31..11-)
    (/note="Collagen-like-)
    (115..24-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR008983  
  • Prosite: PS50871
  • PDB: 1PK6 2JG8 2JG9 2WNU 2WNV 5HKJ 5HZF 6FCZ
  • PDBsum: 1PK6 2JG8 2JG9 2WNU 2WNV 5HKJ 5HZF 6FCZ
  • STRING: ENSP00000363770
• Other Databases: GeneCards:  C1QC  Malacards:  C1QC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098883	synapse pruning	ISS	biological process
GO:0005623	obsolete cell	ISS	cellular component
GO:0005623	obsolete cell	ISS	cellular component
GO:0098794	postsynapse	ISS	cellular component
GO:0045202	synapse	ISS	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
GO:0006958	complement activation, classical pathway	IEA	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:0098883	synapse pruning	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0005623	obsolete cell	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030853	negative regulation of granulocyte differentiation	IDA	biological process
GO:0045650	negative regulation of macrophage differentiation	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0006955	immune response	NAS	biological process
GO:0005576	extracellular region	NAS	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
Classic complement pathway component defects	KEGG:H00102
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R