• Gene id: 713

Gene Summary

• Gene Symbol: C1QB   Gene   UCSC   Ensembl
• Gene name: complement C1q B chain
• Alternate names: complement C1q subcomponent subunit B, complement C1q chain B, complement component 1, q subcomponent, B chain, complement component 1, q subcomponent, beta polypeptide, complement component C1q, B chain, complement subcomponent C1q chain B,
• Gene location: 1p36.12 (22653235: 22661636)     Exons: 4     NC_000001.11
• Gene summary(Entrez): This gene encodes the B-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: 120570

Protein Summary

• Protein general information: P02746  
  • Name: Complement C1q subcomponent subunit B
  • Length: 253  
  • Mass: 26722
• Sequence:

  MMMKIPWGSIPVLMLLLLLGLIDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEKGLPGLAGDHGEFG
  EKGDPGIPGNPGKVGPKGPMGPKGGPGAPGAPGPKGESGDYKATQKIAFSATRTINVPLRRDQTIRFDHVITNMN
  NNYEPRSGKFTCKVPGLYYFTYHASSRGNLCVNLMRGRERAQKVVTFCDYAYNTFQVTTGGMVLKLEQGENVFLQ
  ATDKNSLLGMEGANSIFSGFLLFPDMEA

• Structural information:
  • Protein Domains: (37..8-)
    (/note="Collagen-like-1)
    (60..11-)
    (/note="Collagen-like-2)
    (117..25-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR037573  IPR008983  
  • Prosite: PS50871
  • PDB: 1PK6 2JG8 2JG9 2WNU 2WNV 5HKJ 5HZF 6FCZ
  • PDBsum: 1PK6 2JG8 2JG9 2WNU 2WNV 5HKJ 5HZF 6FCZ
  • STRING: ENSP00000313967
• Other Databases: GeneCards:  C1QB  Malacards:  C1QB

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:0006958	complement activation, classical pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
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:0005602	complement component C1 complex	TAS	cellular component
GO:0006956	complement activation	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:0098883	synapse pruning	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0005623	obsolete cell	IEA	cellular component
GO:0048839	inner ear development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
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:0072562	blood microparticle	HDA	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
Alzheimer's disease	PMID:1362796
Ocular hypertension	PMID:16677633
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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