C1QBP complement C1q binding protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1QBPprovided by HGNC
Official Full Name: complement C1q binding proteinprovided by HGNC
Primary source: HGNC:HGNC:1243
See related: Ensembl:ENSG00000108561 MIM:601269; AllianceGenome:HGNC:1243
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: p32; HABP1; gC1qR; GC1QBP; SF2p32; gC1Q-R; COXPD33; SF2AP32
Summary: 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. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in colon (RPKM 56.9), kidney (RPKM 48.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (5432777..5439155, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (5326513..5332892, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (5336097..5342475, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of Multifunctional Protein p32/C1QBP Promotes Cytostatic Effects in Colon Cancer Cells by Altering Mitogenic Signaling Pathways and Promoting Mitochondrial Damage.
Title: Inhibition of Multifunctional Protein p32/C1QBP Promotes Cytostatic Effects in Colon Cancer Cells by Altering Mitogenic Signaling Pathways and Promoting Mitochondrial Damage.
Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.
Title: Genetic and pharmacologic p32-inhibition rescue CHCHD2-linked Parkinson's disease phenotypes in vivo and in cell models.
Complement component C1q initiates extrinsic coagulation via the receptor for the globular head of C1q in adventitial fibroblasts and vascular smooth muscle cells.
Title: Complement component C1q initiates extrinsic coagulation via the receptor for the globular head of C1q in adventitial fibroblasts and vascular smooth muscle cells.
C1QBP Mediates Breast Cancer Cell Proliferation and Growth via Multiple Potential Signalling Pathways.
Title: C1QBP Mediates Breast Cancer Cell Proliferation and Growth via Multiple Potential Signalling Pathways.
Identification of Mitofusin 1 and Complement Component 1q Subcomponent Binding Protein as Mitochondrial Targets in Systemic Lupus Erythematosus.
Title: Identification of Mitofusin 1 and Complement Component 1q Subcomponent Binding Protein as Mitochondrial Targets in Systemic Lupus Erythematosus.
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
Title: Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
gC1qR Antibody Can Modulate Endothelial Cell Permeability in Angioedema.
Title: gC1qR Antibody Can Modulate Endothelial Cell Permeability in Angioedema.
Loss of Mucosal p32/gC1qR/HABP1 Triggers Energy Deficiency and Impairs Goblet Cell Differentiation in Ulcerative Colitis.
Title: Loss of Mucosal p32/gC1qR/HABP1 Triggers Energy Deficiency and Impairs Goblet Cell Differentiation in Ulcerative Colitis.
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
Title: Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.
Arginase II activity-dependent production of spermine augments Ca(2+) transition from the cytosol to the mitochondria in a mitochondrial p32 protein -dependent manner and regulates CaMKII-dependent constriction in vascular smooth muscle cells.
Title: Arginase II activity regulates cytosolic Ca(2+) level in a p32-dependent manner that contributes to Ca(2+)-dependent vasoconstriction in native low-density lipoprotein-stimulated vascular smooth muscle cells.

Submit: New GeneRIF Correction See all GeneRIFs (91)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 33 MedGen: C4540209 OMIM: 617713 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of C1q globular domain-binding protein in umbilical cord blood mononuclear cells	PubMed
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 S3 motif engages gC1qR on CD4+ T cells to induce the expression of an NK ligand (NKp44L) through the PIP3/H2O2 pathway	PubMed
Rev	rev	Human p32 protein relieves a post-transcriptional block to HIV-1 replication in murine cells by restoring HIV-1 Rev function	PubMed
	rev	Rev binding to p32 is associated with the function of Rev in inhibiting the splicing of HIV-1 mRNA by splicing factors ASF/SF2	PubMed
	rev	Rev bridges the association of p32 with RRE RNA	PubMed
	rev	p32 binds to the basic domain of HIV-1 Rev (amino acids 35-50)	PubMed
Tat	tat	Splicing factor SF2-associated protein p32 preferentially binds acetylated HIV-1 Tat and co-localizes with Tat in HIV-1 infected cells	PubMed
	tat	Using a yeast two-hybrid system, the splicing factor SF2-associated protein p32 has been shown to bind to the basic domain of HIV-1 Tat (amino acids 47-59), suggesting a role for p32 in mediating the biological activity of Tat during HIV-1 replication	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of complement component 1, q subcomponent binding protein (C1QBP) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S2014 (e-PCR)
- UniSTS:69376

STS-R63801 (e-PCR)
- UniSTS:45701

WI-18770 (e-PCR)
- UniSTS:19911

RH78721 (e-PCR)
- UniSTS:80126

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adrenergic receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables complement component C1q complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables complement component C1q complex binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables hyaluronic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables kininogen binding	IBA Inferred from Biological aspect of Ancestor more info
enables kininogen binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables mitochondrial ribosome binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IDA Inferred from Direct Assay more info	PubMed
enables transcription factor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in cytosolic ribosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytosolic ribosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of MDA-5 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of RIG-I signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of interleukin-12 production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of mRNA splicing, via spliceosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of dendritic cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neutrophil chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of trophoblast cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of complement activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of complement activation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: complement component 1 Q subcomponent-binding protein, mitochondrial

Names: ASF/SF2-associated protein p32; C1q globular domain-binding protein; complement component 1, q subcomponent binding protein; glycoprotein gC1qBP; hyaluronan-binding protein 1; mitochondrial matrix protein p32; p33; splicing factor SF2-associated protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.