• Gene id: 708

Gene Summary

• Gene Symbol: C1QBP   Gene   UCSC   Ensembl
• Aliases: COXPD33, GC1QBP, HABP1, SF2AP32, SF2p32, gC1Q-R, gC1qR, p32
• Gene name: complement C1q binding protein
• Alternate names: complement component 1 Q subcomponent-binding protein, mitochondrial, ASF/SF2-associated protein p32, C1q globular domain-binding protein, complement component 1, q subcomponent binding protein, glycoprotein gC1qBP, hyaluronan-binding protein 1, mitochondrial ,
• Gene location: 17p13.2 (5439154: 5432776)     Exons: 6     NC_000017.11
• Gene summary(Entrez): The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. Thi
• OMIM: 601269

SNPs

rs7867029

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

NC_000009.12   g.78405502G>C
NC_000009.11   g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083

Protein Summary

• Protein general information: Q07021  
  • Name: Complement component 1 Q subcomponent binding protein, mitochondrial (ASF/SF2 associated protein p32) (Glycoprotein gC1qBP) (C1qBP) (Hyaluronan binding protein 1) (Mitochondrial matrix protein p32) (gC1q R protein) (p33) (SF2AP32)
  • Length: 282  
  • Mass: 31362
  • Tissue specificity: Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is reported for macrophages and monocyte-derived dendritic cells. {ECO
• Sequence:

  MLPLLRCVPRVLGSSVAGLRAAAPASPFRQLLQPAPRLCTRPFGLLSVRAGSERRPGLLRPRGPCACGCGCGSLH
  TDGDKAFVDFLSDEIKEERKIQKHKTLPKMSGGWELELNGTEAKLVRKVAGEKITVTFNINNSIPPTFDGEEEPS
  QGQKVEEQEPELTSTPNFVVEVIKNDDGKKALVLDCHYPEDEVGQEDEAESDIFSIREVSFQSTGESEWKDTNYT
  LNTDSLDWALYDHLMDFLADRGVDNTFADELVELSTALEHQEYITFLEDLKSFVKSQ

• Structural information:
  • Interpro: IPR003428  IPR036561  
  • PDB: 1P32 3RPX
  • PDBsum: 1P32 3RPX
  • DIP: 31164
  • STRING: ENSP00000225698
• Other Databases: GeneCards:  C1QBP  Malacards:  C1QBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001849	complement component C1q binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003729	mRNA binding	ISS	molecular function
GO:0005080	protein kinase C binding	IEA	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: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: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:0005540	hyaluronic acid binding	IDA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0030449	regulation of complement activation	IDA	biological process
GO:0030984	kininogen binding	IDA	molecular function
GO:0031690	adrenergic receptor binding	ISS	molecular function
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0039534	negative regulation of MDA-5 signaling pathway	IDA	biological process
GO:0039536	negative regulation of RIG-I signaling pathway	IDA	biological process
GO:0042256	mature ribosome assembly	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0050687	negative regulation of defense response to virus	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0070131	positive regulation of mitochondrial translation	ISS	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IDA	biological process
GO:0097177	mitochondrial ribosome binding	ISS	molecular function
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:1901165	positive regulation of trophoblast cell migration	IMP	biological process
GO:2000510	positive regulation of dendritic cell chemotaxis	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001849	complement component C1q binding	IEA	molecular function
GO:0001849	complement component C1q binding	IDA	molecular function
GO:0002250	adaptive immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003729	mRNA binding	ISS	molecular function
GO:0005080	protein kinase C binding	IEA	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: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: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:0005540	hyaluronic acid binding	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0006915	apoptotic process	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016032	viral process	IEA	biological process
GO:0030449	regulation of complement activation	IDA	biological process
GO:0030984	kininogen binding	IDA	molecular function
GO:0031690	adrenergic receptor binding	IEA	molecular function
GO:0031690	adrenergic receptor binding	ISS	molecular function
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0039534	negative regulation of MDA-5 signaling pathway	IDA	biological process
GO:0039536	negative regulation of RIG-I signaling pathway	IDA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042256	mature ribosome assembly	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0050687	negative regulation of defense response to virus	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0070131	positive regulation of mitochondrial translation	ISS	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IDA	biological process
GO:0097177	mitochondrial ribosome binding	ISS	molecular function
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:1901165	positive regulation of trophoblast cell migration	IMP	biological process
GO:2000510	positive regulation of dendritic cell chemotaxis	IMP	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0001849	complement component C1q binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0003729	mRNA binding	ISS	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: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: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:0005540	hyaluronic acid binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007597	blood coagulation, intrinsic pathway	TAS	biological process
GO:0008134	transcription factor binding	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0014065	phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030449	regulation of complement activation	IDA	biological process
GO:0030984	kininogen binding	IDA	molecular function
GO:0031690	adrenergic receptor binding	ISS	molecular function
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0039534	negative regulation of MDA-5 signaling pathway	IDA	biological process
GO:0039536	negative regulation of RIG-I signaling pathway	IDA	biological process
GO:0042256	mature ribosome assembly	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0050687	negative regulation of defense response to virus	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0070131	positive regulation of mitochondrial translation	ISS	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IDA	biological process
GO:0097177	mitochondrial ribosome binding	ISS	molecular function
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:1901165	positive regulation of trophoblast cell migration	IMP	biological process
GO:2000510	positive regulation of dendritic cell chemotaxis	IMP	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0001849	complement component C1q complex binding	IBA	molecular function
GO:0003729	mRNA binding	IBA	molecular function
GO:0030449	regulation of complement activation	IBA	biological process
GO:0097177	mitochondrial ribosome binding	IBA	molecular function
GO:0003714	transcription corepressor activity	IBA	molecular function
GO:0005540	hyaluronic acid binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0008494	translation activator activity	IBA	molecular function
GO:0009986	cell surface	IBA	cellular component
GO:0030984	kininogen binding	IBA	molecular function
GO:0042256	mature ribosome assembly	IBA	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IBA	biological process
GO:0070131	positive regulation of mitochondrial translation	IBA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0032695	negative regulation of interleukin-12 production	IDA	biological process
GO:0030449	regulation of complement activation	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0001849	complement component C1q complex binding	IDA	molecular function
GO:0090023	positive regulation of neutrophil chemotaxis	IDA	biological process
GO:0048025	negative regulation of mRNA splicing, via spliceosome	IDA	biological process
GO:0039536	negative regulation of RIG-I signaling pathway	IDA	biological process
GO:0039534	negative regulation of MDA-5 signaling pathway	IDA	biological process
GO:0032689	negative regulation of interferon-gamma production	IDA	biological process
GO:0030984	kininogen binding	IDA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0008134	transcription factor binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005540	hyaluronic acid binding	IDA	molecular function
GO:0003714	transcription corepressor activity	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:1901165	positive regulation of trophoblast cell migration	IMP	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:0097177	mitochondrial ribosome binding	ISS	molecular function
GO:0050687	negative regulation of defense response to virus	IMP	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IMP	biological process
GO:0003729	mRNA binding	ISS	molecular function
GO:2000510	positive regulation of dendritic cell chemotaxis	IMP	biological process
GO:0070131	positive regulation of mitochondrial translation	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0043065	positive regulation of apoptotic process	IMP	biological process
GO:0042256	mature ribosome assembly	IMP	biological process
GO:0031690	adrenergic receptor binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007597	blood coagulation, intrinsic pathway	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: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: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: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:0098978	glutamatergic synapse	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005080	protein kinase C binding	IEA	molecular function
GO:0001849	complement component C1q complex binding	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0031690	adrenergic receptor binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component

Diseases

Associated diseases	References
Endometriosis	INFBASE: 25439837
Sperm motility	MIK: 11730903
Oligozoospermia	MIK: 11730903
Male factor infertility	MIK: 11730903
Asthenozoospermia	MIK: 11730903
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Spermatogenic defects	MIK: 11984833
Sperm motility defects	MIK: 11730903
Asthenozoospermia	MIK: 11730903
Oligozoospermia	MIK: 11730903
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
11730903	Sperm motility, Asthenozoospermic and oligozoospermic				Male infertility
11984833	Associated with spermatogenic differentiation				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)