C1QBP
Complement component 1 Q subcomponent-binding protein, mitochondrial
Also known as: C1QBP_HUMAN, gC1Q-R, gC1qR, HABP1, p32, SF2p32
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q07021
- Gene
- C1QBP
- Ensembl
- ENSG00000108561
- Chromosome
- 17
- Canonical length
- 282 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins, Transporters
- Subcellular location
- Plasma membrane,Mitochondria
- Secretome location
- Secreted to blood
- Quaternary structure
- Homotrimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
282 residues, UniProt reviewed canonical sequence.
>Q07021|C1QBP
1 MLPLLRCVPR VLGSSVAGLR AAAPASPFRQ LLQPAPRLCT RPFGLLSVRA GSERRPGLLR
61 PRGPCACGCG CGSLHTDGDK AFVDFLSDEI KEERKIQKHK TLPKMSGGWE LELNGTEAKL
121 VRKVAGEKIT VTFNINNSIP PTFDGEEEPS QGQKVEEQEP ELTSTPNFVV EVIKNDDGKK
181 ALVLDCHYPE DEVGQEDEAE SDIFSIREVS FQSTGESEWK DTNYTLNTDS LDWALYDHLM
241 DFLADRGVDN TFADELVELS TALEHQEYIT FLEDLKSFVK SQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against C1QBP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 247 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 247 nTPM
- skeletal muscle: 163 nTPM
- tongue: 149 nTPM
- esophagus: 134 nTPM
- rectum: 133 nTPM
- colon: 131 nTPM
Single-cell type
- esophageal basal cells: 790 nCPM
- esophageal suprabasal cells: 627 nCPM
- gastric progenitor cells: 552 nCPM
- migrating cytotrophoblasts: 545 nCPM
- extravillous trophoblasts: 454 nCPM
- oocytes: 405 nCPM
Immune cell
- total PBMC: 433 nTPM
- myeloid DC: 390 nTPM
- memory B-cell: 331 nTPM
- plasmacytoid DC: 326 nTPM
- naive B-cell: 291 nTPM
- naive CD4 T-cell: 291 nTPM
Brain region
- choroid plexus: 129 nTPM
- white matter: 81 nTPM
- hypothalamus: 74 nTPM
- medulla oblongata: 74 nTPM
- spinal cord: 72 nTPM
- midbrain: 71 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about C1QBP.
Disease | AllUniProt
Conditions C1QBP is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 33 (COXPD33) MIM:617713
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 212 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Combined oxidative phosphorylation deficiency 33
- Mitochondrial disease
ReferencesPubMed · IEDB
Publications for C1QBP from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
2 publications
- Autoantigens in the trabecular meshwork and glaucoma-specific alterations in the natural autoantibody repertoire.
2020 · Clin Transl Immunology · RCR 1.5 · 23 citations - p32, a platelet autoantigen recognized by an SLE-derived autoantibody that inhibits platelet aggregation.
1995 · J Autoimmun · RCR 0.1 · 4 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.47
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.06
- DepMap mean gene effect
- -0.4
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- complement activation, classical pathway
- cytosolic ribosome assembly
- DNA damage response
- immune response
- innate immune response
- mitochondrial RNA catabolic process
- mRNA processing
- negative regulation of defense response to virus
- negative regulation of double-strand break repair via homologous recombination
- negative regulation of interleukin-12 production
- negative regulation of MDA-5 signaling pathway
- negative regulation of mRNA splicing, via spliceosome
- negative regulation of RIG-I signaling pathway
- negative regulation of transcription by RNA polymerase II
- negative regulation of type II interferon production
- phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of apoptotic process
- positive regulation of cell adhesion
- positive regulation of dendritic cell chemotaxis
- positive regulation of mitochondrial translation
- positive regulation of neutrophil chemotaxis
- positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
- positive regulation of substrate adhesion-dependent cell spreading
- positive regulation of trophoblast cell migration
- regulation of complement activation
- RNA splicing
Molecular functions
- C5-methylcytidine-containing RNA reader activity
- complement component C1q complex binding
- enzyme inhibitor activity
- hyaluronic acid binding
- kininogen binding
- mitochondrial ribosome binding
- mRNA binding
- protein kinase C binding
- transcription corepressor activity
- transcription factor binding
- adrenergic receptor binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Mitochondrial glycoprotein
- Mitochondrial glycoprotein superfamily
- Mitochondrial glycoprotein
KeywordsUniProt
- Acetylation
- Adaptive immunity
- Apoptosis
- Cell membrane
- Complement pathway
- Cytoplasm
- DNA damage
- Host-virus interaction
- Immunity
- Innate immunity
- Membrane
- Mitochondrion
- mRNA processing
- mRNA splicing
- Nucleus
- Phosphoprotein
- Primary mitochondrial disease
- Ribosome biogenesis
- Secreted
- Transcription
- Transcription regulation
- Transit peptide
InteractionsUniProt · HPA
Protein binding partners of C1QBP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads C1QBP as an antibody target. Whether an autoantibody or antibody against C1QBP could matter depends on whether native C1QBP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
C1QBP is annotated at the cell surface, where native C1QBP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label C1QBP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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