C1QBP

Summary

C1QBP (complement C1q binding protein, HGNC:1243) is a protein-coding gene on chromosome 17p13.2, encoding Complement component 1 Q subcomponent-binding protein, mitochondrial (Q07021). Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. It is a selective cancer dependency (DepMap: 34.0% of cell lines).

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.

Source: NCBI Gene 708 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 216 total — 12 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 31
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 34.0% of screened cell lines
• MANE Select transcript: NM_001212

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1243
Approved symbol	C1QBP
Name	complement C1q binding protein
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	gC1Q-R, gC1qR, p32, SF2p32
Ensembl gene	ENSG00000108561
Ensembl biotype	protein_coding
OMIM	601269
Entrez	708

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 3 retained_intron

ENST00000225698, ENST00000570805, ENST00000573204, ENST00000573406, ENST00000573421, ENST00000574444, ENST00000576122

RefSeq mRNA: 1 — MANE Select: NM_001212 NM_001212

CCDS: CCDS11071

Canonical transcript exons

ENST00000225698 — 6 exons

Exon	Start	End
ENSE00000678412	5432777	5433164
ENSE00000678416	5433669	5433767
ENSE00000678419	5434873	5434966
ENSE00003529463	5438123	5438273
ENSE00003626118	5438842	5439155
ENSE00003662948	5433293	5433415

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 169.8691 / max 1251.6687, expressed in 1827 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164027	169.8691	1827

Top tissues by expression

292 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.61	gold quality
right adrenal gland	UBERON:0001233	98.43	gold quality
rectum	UBERON:0001052	98.41	gold quality
right adrenal gland cortex	UBERON:0035827	98.38	gold quality
left adrenal gland	UBERON:0001234	98.34	gold quality
adrenal tissue	UBERON:0018303	98.31	gold quality
islet of Langerhans	UBERON:0000006	98.20	gold quality
left adrenal gland cortex	UBERON:0035825	98.20	gold quality
cortical plate	UBERON:0005343	98.11	gold quality
adrenal gland	UBERON:0002369	98.06	gold quality
esophagus mucosa	UBERON:0002469	97.80	gold quality
adenohypophysis	UBERON:0002196	97.78	gold quality
gastrocnemius	UBERON:0001388	97.64	gold quality
adrenal cortex	UBERON:0001235	97.58	gold quality
muscle of leg	UBERON:0001383	97.57	gold quality
mucosa of sigmoid colon	UBERON:0004993	97.48	gold quality
transverse colon	UBERON:0001157	97.45	gold quality
heart left ventricle	UBERON:0002084	97.41	gold quality
hindlimb stylopod muscle	UBERON:0004252	97.41	gold quality
ganglionic eminence	UBERON:0004023	97.40	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	97.33	gold quality
smooth muscle tissue	UBERON:0001135	97.31	gold quality
embryo	UBERON:0000922	97.30	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.24	gold quality
anterior cingulate cortex	UBERON:0009835	97.22	gold quality
cardiac ventricle	UBERON:0002082	97.19	gold quality
apex of heart	UBERON:0002098	97.19	gold quality
cingulate cortex	UBERON:0003027	97.18	gold quality
esophagus	UBERON:0001043	97.13	gold quality
prefrontal cortex	UBERON:0000451	96.98	gold quality

Single-cell (SCXA)

Detected in 14 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-HCAD-8	yes	51.58
E-GEOD-125970	yes	47.41
E-GEOD-134144	yes	26.99
E-MTAB-9067	yes	22.54
E-CURD-122	yes	20.65
E-CURD-112	yes	19.17
E-MTAB-10042	yes	14.47
E-MTAB-9801	yes	6.71
E-MTAB-9689	no	1092.07
E-MTAB-6911	no	854.37
E-GEOD-76312	no	380.40
E-MTAB-8271	no	8.97
E-HCAD-31	no	2.69
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC, SP1

miRNA regulators (miRDB)

28 targeting C1QBP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-300	99.92	71.76	2856
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-8067	99.86	69.59	2260
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-96-3P	97.47	68.03	839

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 34.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 40)

• increase in expression over the rostral portion of the sperm head after capacitation; may play a role in human fertilization (PMID:11870091)
• demonstrate that MT1-MMP via its cytoplasmic tail directly associates with a chaperone-like compartment-specific regulator gC1qR (PMID:12220632)
• presence of homologous sequences of HABP1 cDNA, termed processed HABP1 pseudogene, in humans (PMID:12443542)
• Maturation-dependent expression of this protein in monocyte-derived dendritic cells. (PMID:12538033)
• gC1qR expressed on activated platelets may contribute directly to thrombosis, inflammation, and endovascular infections. (PMID:12574814)
• binds with Hepacivirus core protein on CD8+ and CD4+ positive t-cells and inactivates lck and akt. (PMID:15163734)
• Human p32 functions as a corepressor of CCAAT-binding factor-mediated transcription activation. (PMID:15243141)
• data suggest that gC1qR may participate in tissue remodeling and inflammation by localizing TFPI-2 to the pericellular environment to modulate local protease activity and regulate High Molecular Weight Kininogen activation (PMID:15467913)
• HABP1 expression in Schizosaccharomyces pombe induces growth inhibition, morphological abnormalities like elongation, multinucleation and aberrant cell septum formation, implicating its role in cell cycle progression and cytokinesis (PMID:16039650)
• C1q functions as a chemotactic factor for immature dendritic cells, and migration is mediated through ligation of both gC1qR and cC1qR/CR. (PMID:16140380)
• These studies suggest that HCV core protein can lead to enhanced p38- and gC1qR-dependent IL-8 expression. (PMID:16164755)
• gC1qR down-regulates interleukin-12 production by signaling through 1-phosphatidylinositol 3-kinase. This is the first report to identify signaling pathways used by gC1qR-mediated immune suppression. (PMID:16177118)
• p32 overexpression effectively blocks mRNA accumulation from the adenovirus major late transcription unit (MLTU) and stimulates RNA polymerase II carboxy-terminal domain phosphorylation in virus-infected cells. (PMID:16641292)
• we speculate that the epitope of gC1qR is unmasked in the germ cell lineage; by reducing gC1qR by siRNA, an increase was observed in the number of apoptotic cells in ITO-II & TCam-2 cell lines showing an antiapoptotic property of gC1qR in the germ cells (PMID:16871385)
• Data suggest that gC1qR serves as a molecular bridge between the complement and contact activation systems and is an important catalyst in inflammation. (PMID:16893067)
• Engagement of gC1qR on dendritic cells by hepatitis C virus core protein limits the induction of Th1 responses by inhibiting TLR-induced IL-12 production and may contribute to viral persistence. (PMID:17881511)
• These data suggest a role for gC1qR in the initial stages of Bacillus cereus spore attachment and/or entry. (PMID:17892212)
• P. falciparum-infected red blood cells use the 32-kDa human protein gC1qR/HABP1/p32 as a receptor to bind to human brain microvascular endothelial cells. (PMID:17907801)
• Data demonstrated a direct and specific interaction between vasopressin V2 receptor and GC1q-Rthese two proteins via the arginine cluster of vasopressin V2 receptor. (PMID:18358546)
• Differential isoform expression and interaction with the P32 regulatory protein controls the subcellular localization of the splicing factor U2AF26 (PMID:18460468)
• Mitochondrial p32/C1QBP is a critical mediator of p14ARF-induced apoptosis. (PMID:18538737)
• Failure of p32 to interact with FOXC1 containing the disease-causing F112S mutation indicates that impaired protein interaction may be a disease mechanism for AR malformations. (PMID:18676636)
• results establish p32, particularly its cell-surface-expressed form, as a new marker of tumor cells and tumor-associated macrophages/myeloid cells in hypoxic/metabolically deprived areas of tumors (PMID:18757437)
• Evidence for inhibitory interaction of hyaluronan-binding protein 1 (HABP1/p32/gC1qR) with Streptococcus pneumoniae hyaluronidase. (PMID:19004836)
• gC1qR is a physiological inhibitor of the RIG-I and MDA5-mediated antiviral signaling pathway (PMID:19164550)
• Cryoglobulins were present in over 90% of Chikungunya infection patients. Cryoglobulin frequency and levels decreased with time in recovering patients. (PMID:19190731)
• results suggest that HCV infection expands gC1qR+CD4+ T cells, which increase the susceptibility to core-mediated immune dysregulation and facilitate the establishment of HCV persistency (PMID:19473882)
• HABP1 mRNA expression level was a significant factor for predicting breast cancer prognosis (PMID:19565630)
• Dysregulated shedding of C1q-R molecules contributes to vascular cryoglobulin-induced damage via the classic complement-mediated pathway in chronically hepatitis C-infected patients, with and without mixed cryoglobulinemia. (PMID:19828637)
• Knocking down p32 expression in human cancer cells strongly shifts their metabolism from oxidative phosphorylation (OXPHOS) to glycolysis. (PMID:20100866)
• the potential of p32 for antibody-based tumor targeting strategies and the utility of the 2.15 antibody as targeting moiety for the selective delivery of imaging and therapeutic agents to tumors. (PMID:21156793)
• p32 is highly expressed in prostate tumor samples and its expression is significantly associated with the Gleason score, pathological stage and relapse (PMID:21205079)
• The data presented suggest that p32 fulfills an essential function for rubella virus replication in directing trafficking of mitochondria near sites of viral replication to meet the energy demands of the virus. (PMID:21248045)
• cell-surface gC1qR regulates lamellipodia formation and metastasis via receptor tyrosine kinase activation. (PMID:21536672)
• p32 is a new rRNA maturation factor involved in the remodeling from pre-90S particles to pre-40S and pre-60S particles that requires the exchange of FBL for Nop52. (PMID:21536856)
• there is a a role for platelet-mediated clumping, rosetting and adhesion to gC1qR in the pathogenesis of severe malaria (PMID:21559373)
• HABP1 interacts with cell surface receptor integrin alphaVbeta3 that induces cell migration and tumor growth mediated by transcription factor NF-kappa B, membrane type-1 matrix metalloproteinase and matrix metalloprotease-2. (PMID:21627988)
• gC1qR could play an important role in HPV-16-induced cervical cancer immune evasion depending on its level of expression and subcellular localisation. (PMID:21725590)
• we have identified a mitochondrial protein p32 as a novel interactor of parkin in the brain (PMID:22008525)
• C1qbp is upregulated in human lung and colon cancer cell lines and tumors. (PMID:22101277)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	c1qbp	ENSDARG00000039887
mus_musculus	C1qbp	ENSMUSG00000018446
rattus_norvegicus	C1qbp	ENSRNOG00000006949
drosophila_melanogaster	P32	FBGN0034259
caenorhabditis_elegans		WBGENE00010303

Protein

Protein identifiers

Complement component 1 Q subcomponent-binding protein, mitochondrial — Q07021 (reviewed: Q07021)

Alternative names: ASF/SF2-associated protein p32, Glycoprotein gC1qBP, Hyaluronan-binding protein 1, Mitochondrial matrix protein p32, gC1q-R protein, p33

All UniProt accessions (4): Q07021, A0A0G2JLC0, I3L3B0, I3L3Q7

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional and multicompartmental protein involved in inflammation and infection processes, ribosome biogenesis, protein synthesis in mitochondria, regulation of apoptosis, transcriptional regulation and pre-mRNA splicing. At the cell surface is thought to act as an endothelial receptor for plasma proteins of the complement and kallikrein-kinin cascades. Putative receptor for C1q; specifically binds to the globular ‘heads’ of C1q thus inhibiting C1; may perform the receptor function through a complex with C1qR/CD93. In complex with cytokeratin-1/KRT1 is a high affinity receptor for kininogen-1/HMWK. Can also bind other plasma proteins, such as coagulation factor XII leading to its autoactivation. May function to bind initially fluid kininogen-1 to the cell membrane. The secreted form may enhance both extrinsic and intrinsic coagulation pathways. It is postulated that the cell surface form requires docking with transmembrane proteins for downstream signaling which might be specific for a cell-type or response. By acting as C1q receptor is involved in chemotaxis of immature dendritic cells and neutrophils and is proposed to signal through CD209/DC-SIGN on immature dendritic cells, through integrin alpha-4/beta-1 during trophoblast invasion of the decidua, and through integrin beta-1 during endothelial cell adhesion and spreading. Signaling involved in inhibition of innate immune response is implicating the PI3K-AKT/PKB pathway. Required for protein synthesis in mitochondria. In mitochondrial translation may be involved in formation of functional 55S mitoribosomes; the function seems to involve its RNA-binding activity. Acts as a RNA modification reader, which specifically recognizes and binds mitochondrial RNAs modified by C5-methylcytosine (m5C) in response to stress, and promotes recruitment of the mitochondrial degradosome complex, leading to their degradation. May be involved in the nucleolar ribosome maturation process; the function may involve the exchange of FBL for RRP1 in the association with pre-ribosome particles. Involved in regulation of RNA splicing by inhibiting the RNA-binding capacity of SRSF1 and its phosphorylation. Is required for the nuclear translocation of splicing factor U2AF1L4. Involved in regulation of CDKN2A- and HRK-mediated apoptosis. Stabilizes mitochondrial CDKN2A isoform smARF. May be involved in regulation of FOXC1 transcriptional activity and NFY/CCAAT-binding factor complex-mediated transcription. May play a role in antibacterial defense as it can bind to cell surface hyaluronan and inhibit Streptococcus pneumoniae hyaluronate lyase. May be involved in modulation of the immune response; ligation by HCV core protein is resulting in suppression of interleukin-12 production in monocyte-derived dendritic cells. Involved in regulation of antiviral response by inhibiting RIGI- and IFIH1-mediated signaling pathways probably involving its association with MAVS after viral infection. Acts as a regulator of DNA repair via homologous recombination by inhibiting the activity of MRE11: interacts with unphosphorylated MRE11 and RAD50 in absence of DNA damage, preventing formation and activity of the MRN complex. Following DNA damage, dissociates from phosphorylated MRE11, allowing formation of the MRN complex. (Microbial infection) Involved in HIV-1 replication, presumably by contributing to splicing of viral RNA. (Microbial infection) In infection processes acts as an attachment site for microbial proteins, including Listeria monocytogenes internalin B (InlB) and Staphylococcus aureus protein A. (Microbial infection) Involved in replication of Rubella virus.

Subunit / interactions. Homotrimer; three monomers form a donut-shaped structure with an unusually asymmetric charge distribution on the surface. Interacts with CDK13, HRK, VTN, NFYB, ADRA1B, FOXC1, DDX21, DDX50, NCL, SRSF1, SRSF9 and CDKN2A isoform smARF. Interacts with CD93; the association may represent a cell surface C1q receptor. Interacts with KRT1; the association represents a cell surface kininogen receptor. Interacts with CD209; the interaction is indicative for a C1q:C1QBP:CD209 signaling complex. Interacts with FBL and RRP1; the respective interactions with C1QBP are competitive. Probably associates with the mitoribosome. Interacts with MAVS; the interaction occurs upon viral transfection. Interacts with PPIF. Interacts with U2AF1L4. Interacts with PLEKHN1. Interacts with VGF-derived peptide TLQP-21. Interacts with POLGARF which is produced from an alternative reading frame of the POLG gene; the interaction results in nucleolar localization of C1QBP, probably due to prevention of C1QBP maturation and redirection from mitochondria to nucleoli. Interacts with MRE11 and RAD50; forming the MRC (MRE11-RAD50-C1QBP) complex that inhibits the activity of MRE11. Interacts with MTALTND4, a small protein produced by an alternative reading frame of the MT-ND4 gene. (Microbial infection) Interacts with Rubella virus capsid protein; the interaction occurs in mitochondria. Interacts with Rubella virus protease/methyltransferase p150. (Microbial infection) Interacts with Staphylococcus aureus protein A/spa. (Microbial infection) Interacts with Staphylococcus aureus protein A/spa, HIV-1 Tat and HCV core protein. (Microbial infection) Interacts with HIV-1 Tat and HCV core protein. (Microbial infection) Interacts with L.monocytogenes internalin B. (Microbial infection) Interacts with Epstein-Barr virus EBNA1.

Subcellular location. Mitochondrion matrix. Nucleus. Nucleolus. Cell membrane. Secreted. Cytoplasm.

Tissue specificity. Expressed on cell surface of peripheral blood cells (at protein level); Surface expression is reported for macrophages and monocyte-derived dendritic cells.

Disease relevance. Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] An autosomal recessive disorder caused by multiple mitochondrial respiratory chain defects and impaired mitochondrial energy metabolism. Clinical manifestations are highly variable. Affected infants present with cardiomyopathy accompanied by multisystemic features involving liver, kidney, and brain. Death in infancy is observed in some patients. Children and adults present with myopathy and progressive external ophthalmoplegia. The disease is caused by variants affecting the gene represented in this entry.

Induction. Enhanced cell surface expression upon platelet and monocyte activation.

Similarity. Belongs to the MAM33 family.

RefSeq proteins (1): NP_001203* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003428	MAM33	Family
IPR036561	MAM33_sf	Homologous_superfamily

Pfam: PF02330

UniProt features (32 total): strand 8, modified residue 6, sequence variant 6, helix 5, region of interest 3, transit peptide 1, chain 1, mutagenesis site 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7TE3	X-RAY DIFFRACTION	2.2
1P32	X-RAY DIFFRACTION	2.25
3RPX	X-RAY DIFFRACTION	2.65
6SZW	X-RAY DIFFRACTION	3.14

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07021-F1	76.12	0.54

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 214, 87, 91, 188, 201, 205

Mutagenesis-validated functional residues (1):

Position	Phenotype
107	impairs hiv rna splicing in mouse cells.

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-111471	Apoptotic factor-mediated response
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9645722	Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
R-HSA-9855719	Regulation of FXIIa and plasma kallikrein activity
R-HSA-9970672	FXIIa activates plasma kallikrein-kinin system
R-HSA-140837
R-HSA-109581	Apoptosis
R-HSA-109582	Hemostasis
R-HSA-109606	Intrinsic Pathway for Apoptosis
R-HSA-140877
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-194315	Signaling by Rho GTPases
R-HSA-5357801	Programmed Cell Death
R-HSA-9012999	RHO GTPase cycle
R-HSA-9645723	Diseases of programmed cell death
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3
R-HSA-9734009	Defective Intrinsic Pathway for Apoptosis

MSigDB gene sets: 521 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_RIBOSOME_BIOGENESIS, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, HORIUCHI_WTAP_TARGETS_DN, GOBP_DENDRITIC_CELL_MIGRATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_NEGATIVE_REGULATION_OF_RNA_SPLICING

GO Biological Process (31): negative regulation of transcription by RNA polymerase II (GO:0000122), mitochondrial RNA catabolic process (GO:0000957), mRNA processing (GO:0006397), apoptotic process (GO:0006915), immune response (GO:0006955), complement activation, classical pathway (GO:0006958), DNA damage response (GO:0006974), RNA splicing (GO:0008380), regulation of complement activation (GO:0030449), negative regulation of type II interferon production (GO:0032689), negative regulation of interleukin-12 production (GO:0032695), negative regulation of MDA-5 signaling pathway (GO:0039534), negative regulation of RIG-I signaling pathway (GO:0039536), cytosolic ribosome assembly (GO:0042256), positive regulation of apoptotic process (GO:0043065), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), innate immune response (GO:0045087), positive regulation of cell adhesion (GO:0045785), negative regulation of mRNA splicing, via spliceosome (GO:0048025), negative regulation of defense response to virus (GO:0050687), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), positive regulation of mitochondrial translation (GO:0070131), positive regulation of neutrophil chemotaxis (GO:0090023), positive regulation of substrate adhesion-dependent cell spreading (GO:1900026), positive regulation of trophoblast cell migration (GO:1901165), negative regulation of double-strand break repair via homologous recombination (GO:2000042), positive regulation of dendritic cell chemotaxis (GO:2000510), double-strand break repair via homologous recombination (GO:0000724), adaptive immune response (GO:0002250), immune system process (GO:0002376), ribosome biogenesis (GO:0042254)

GO Molecular Function (13): complement component C1q complex binding (GO:0001849), transcription corepressor activity (GO:0003714), mRNA binding (GO:0003729), enzyme inhibitor activity (GO:0004857), protein kinase C binding (GO:0005080), hyaluronic acid binding (GO:0005540), transcription factor binding (GO:0008134), kininogen binding (GO:0030984), adrenergic receptor binding (GO:0031690), C5-methylcytidine-containing RNA reader activity (GO:0062153), mitochondrial ribosome binding (GO:0097177), protein binding (GO:0005515), deoxyribonuclease inhibitor activity (GO:0060703)

GO Cellular Component (14): obsolete extracellular space (GO:0005615), nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), cytosol (GO:0005829), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), presynaptic active zone (GO:0048786), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
RHO GTPase cycle	2
Intrinsic Pathway for Apoptosis	1
Defective Intrinsic Pathway for Apoptosis	1
FXIIa activates plasma kallikrein-kinin system	1
Innate Immune System	1
Programmed Cell Death	1
Apoptosis	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Disease	1
Signal Transduction	1
Diseases of programmed cell death	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
negative regulation of DNA-templated transcription	2
mitochondrion	2
RNA processing	2
complement activation	2
negative regulation of cytokine production	2
negative regulation of cytoplasmic pattern recognition receptor signaling pathway	2
RNA binding	2
protein binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
synapse	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
mitochondrial RNA metabolic process	1
RNA catabolic process	1
mRNA metabolic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
immune system process	1
response to stimulus	1
humoral immune response mediated by circulating immunoglobulin	1
cellular response to stress	1
regulation of immune effector process	1
regulation of humoral immune response	1
type II interferon production	1
regulation of type II interferon production	1
interleukin-12 production	1
regulation of interleukin-12 production	1
MDA-5 signaling pathway	1
regulation of MDA-5 signaling pathway	1
RIG-I signaling pathway	1
regulation of RIG-I signaling pathway	1
ribosome assembly	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
intracellular signaling cassette	1
immune response	1

Protein interactions and networks

STRING

2773 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C1QBP	KNG1	P01042	987
C1QBP	KRT1	P04264	949
C1QBP	PTPN22	Q9Y2R2	942
C1QBP	VTN	P01141	932
C1QBP	EMD	P50402	834
C1QBP	CD209	Q9NNX6	771
C1QBP	CD93	Q9NPY3	738
C1QBP	CALR	P27797	726
C1QBP	SRSF1	Q07955	726
C1QBP	PLAUR	Q03405	715
C1QBP	C3AR1	Q16581	678
C1QBP	C5AR1	P21730	626
C1QBP	C1QA	P02745	625
C1QBP	CD55	P08174	577
C1QBP	CR1	P17927	573

IntAct

693 interactions, top by confidence:

A	B	Type	Score
PRKCZ	PRKCI	psi-mi:“MI:0914”(association)	0.890
YWHAH	ABLIM1	psi-mi:“MI:0914”(association)	0.800
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
NPM2	NPM3	psi-mi:“MI:0914”(association)	0.800
OSM	IL6ST	psi-mi:“MI:0914”(association)	0.760
LYRM2	NDUFAB1	psi-mi:“MI:0914”(association)	0.730
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
PRELID3B	TRIAP1	psi-mi:“MI:0914”(association)	0.710
COQ8A	COQ9	psi-mi:“MI:0914”(association)	0.670
NEUROG3	GXYLT2	psi-mi:“MI:0914”(association)	0.640
NOP53	RRP8	psi-mi:“MI:0914”(association)	0.640
RSRP1	C1QBP	psi-mi:“MI:0914”(association)	0.640
LYRM4	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
NDUFAF4	NDUFS8	psi-mi:“MI:0914”(association)	0.640
SDHAF3	NDUFAB1	psi-mi:“MI:0914”(association)	0.640
	DDX3X	psi-mi:“MI:0914”(association)	0.630
DUX4L9	C1QBP	psi-mi:“MI:0915”(physical association)	0.620
	C1QBP	psi-mi:“MI:0915”(physical association)	0.560
C1QBP		psi-mi:“MI:0915”(physical association)	0.560
C1QBP		psi-mi:“MI:0403”(colocalization)	0.560
C1QBP	DUX4	psi-mi:“MI:0915”(physical association)	0.540
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
NEURL4	APBB1	psi-mi:“MI:0914”(association)	0.530
MAGEB10	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZNF707	ZNF316	psi-mi:“MI:0914”(association)	0.530
RPS2	MPHOSPH10	psi-mi:“MI:0914”(association)	0.530

BioGRID (1068): C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS), C1QBP (Affinity Capture-MS)

ESM2 similar proteins: A1L1P7, A6ZND9, A6ZSH0, B0BN56, B3LIY9, B3LPE4, B5VQB0, C5DKM2, D3ZYW7, F4I9Q5, O14320, O35658, O35796, O35943, O49196, P37841, P42797, P42844, P49727, P51132, P51133, P51135, P82928, Q01607, Q04907, Q05B87, Q07021, Q08230, Q09759, Q0IH40, Q16595, Q1JPN0, Q2KI49, Q3T0B6, Q5REH5, Q84WZ8, Q8HXX9, Q8N5N7, Q8VZE7, Q94JS0

Diamond homologs: O35658, O35796, Q07021, Q3T0B6, Q9MZE0

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
C1QBP	“up-regulates activity”	KRT1	binding
C1QBP	“down-regulates activity”	“Complement C1q”	binding
C1QBP	“down-regulates activity”	C1QA	binding
C1QBP	“down-regulates activity”	C1QB	binding
C1QBP	“down-regulates activity”	C1QC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 226 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial protein import	9	10.3×	5e-05
Complex I biogenesis	8	9.0×	4e-04
Mitochondrial protein degradation	10	7.8×	1e-04
Aerobic respiration and respiratory electron transport	12	7.2×	3e-05
Respiratory electron transport	10	6.5×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
ubiquinone biosynthetic process	6	28.4×	5e-05
mitochondrial respiratory chain complex I assembly	7	14.5×	3e-04
mitochondrial electron transport, NADH to ubiquinone	6	10.9×	3e-03
intrinsic apoptotic signaling pathway	6	10.9×	3e-03
proton motive force-driven mitochondrial ATP synthesis	7	9.3×	3e-03
cellular response to UV	6	9.0×	7e-03
G1/S transition of mitotic cell cycle	8	8.1×	3e-03
cytoplasmic translation	7	6.5×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

216 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	2
Uncertain significance	75
Likely benign	97
Benign	16

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
1453425	NM_001212.4(C1QBP):c.736C>T (p.Arg246Ter)	Pathogenic
2028678	NM_001212.4(C1QBP):c.240_249del (p.Ala81fs)	Pathogenic
2423977	NC_000017.10:g.(?5336335)(5337107_?)del	Pathogenic
2828245	NM_001212.4(C1QBP):c.429_448del (p.Asp144fs)	Pathogenic
3243138	NC_000017.10:g.(?5289526)(5342393_?)del	Pathogenic
3243139	NC_000017.10:g.(?5341423)(5342393_?)del	Pathogenic
3715982	NM_001212.4(C1QBP):c.608TCT[1] (p.Phe204del)	Pathogenic
3728322	NM_001212.4(C1QBP):c.457C>T (p.Gln153Ter)	Pathogenic
441243	NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro)	Pathogenic
441244	NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp)	Pathogenic
441245	NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe)	Pathogenic
4727049	NM_001212.4(C1QBP):c.466_467insTA (p.Glu156fs)	Pathogenic
2905520	NM_001212.4(C1QBP):c.577-1G>A	Likely pathogenic
3767574	NM_001212.4(C1QBP):c.118dup (p.Thr40fs)	Likely pathogenic

SpliceAI

744 predictions. Top by Δscore:

Variant	Effect	Δscore
17:5433160:AAGGC:A	acceptor_gain	1.0000
17:5433161:AGGC:A	acceptor_gain	1.0000
17:5433162:GGC:G	acceptor_gain	1.0000
17:5433163:GC:G	acceptor_gain	1.0000
17:5433164:CC:C	acceptor_gain	1.0000
17:5433165:C:CC	acceptor_gain	1.0000
17:5433168:C:CT	acceptor_gain	1.0000
17:5433169:A:T	acceptor_gain	1.0000
17:5433286:CACT:C	donor_loss	1.0000
17:5433287:ACTC:A	donor_loss	1.0000
17:5433288:CT:C	donor_loss	1.0000
17:5433289:TCA:T	donor_loss	1.0000
17:5433290:CACCC:C	donor_loss	1.0000
17:5433291:A:AC	donor_gain	1.0000
17:5433291:AC:A	donor_gain	1.0000
17:5433292:C:CC	donor_gain	1.0000
17:5433292:CC:C	donor_gain	1.0000
17:5433370:C:A	donor_gain	1.0000
17:5433411:CCAAC:C	acceptor_gain	1.0000
17:5433412:CAAC:C	acceptor_gain	1.0000
17:5433412:CAACC:C	acceptor_gain	1.0000
17:5433414:AC:A	acceptor_gain	1.0000
17:5433415:CC:C	acceptor_gain	1.0000
17:5433416:C:CC	acceptor_gain	1.0000
17:5433664:CATA:C	donor_loss	1.0000
17:5433665:ATAC:A	donor_loss	1.0000
17:5433666:TAC:T	donor_loss	1.0000
17:5433667:A:T	donor_loss	1.0000
17:5433668:C:A	donor_loss	1.0000
17:5433763:TCAGG:T	acceptor_gain	1.0000

AlphaMissense

1841 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:5434958:A:T	V131D	1.000
17:5433040:A:G	L275P	0.999
17:5433049:A:G	L272P	0.999
17:5433062:A:G	Y268H	0.999
17:5433084:G:C	S260R	0.999
17:5433084:G:T	S260R	0.999
17:5433086:T:G	S260R	0.999
17:5433097:A:G	L256P	0.999
17:5433127:C:G	R246P	0.999
17:5433136:A:G	L243P	0.999
17:5433136:A:T	L243H	0.999
17:5433148:A:G	L239P	0.999
17:5433687:A:C	C186W	0.999
17:5433689:A:G	C186R	0.999
17:5433736:A:T	V170D	0.999
17:5433742:A:G	F168S	0.999
17:5433748:G:T	P166H	0.999
17:5438181:A:G	W109R	0.999
17:5438181:A:T	W109R	0.999
17:5433049:A:T	L272H	0.998
17:5433088:A:G	L259P	0.998
17:5433136:A:C	L243R	0.998
17:5433315:A:G	L226P	0.998
17:5433381:A:G	F204S	0.998
17:5433688:C:T	C186Y	0.998
17:5433741:G:C	F168L	0.998
17:5433741:G:T	F168L	0.998
17:5433743:A:G	F168L	0.998
17:5434936:G:C	S138R	0.998
17:5434936:G:T	S138R	0.998

dbSNP variants (sampled 300 via entrez): RS1000204882 (17:5434462 CTCTTTTT>C), RS1000298676 (17:5440261 AC>A), RS1000518841 (17:5438740 G>A), RS1000586864 (17:5439973 T>A), RS1000973072 (17:5439237 G>A,C), RS1001011744 (17:5439457 G>A), RS1001036395 (17:5439015 C>G,T), RS1001095419 (17:5434855 A>G), RS1001526754 (17:5434712 C>A,T), RS1001566493 (17:5436103 C>A), RS1002140919 (17:5435896 A>T), RS1002570952 (17:5437078 A>G), RS1003634208 (17:5432943 C>T), RS1003950638 (17:5432749 G>A,C,T), RS1004150862 (17:5437887 C>T)

Disease associations

OMIM: gene MIM:601269 | disease phenotypes: MIM:617713

GenCC curated gene-disease

Disease	Classification	Inheritance
combined oxidative phosphorylation deficiency 33	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (2): mitochondrial disease (MONDO:0044970), combined oxidative phosphorylation deficiency 33 (MONDO:0054677)

Orphanet (1): Mitochondrial disease (Orphanet:68380)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000100	Nephrotic syndrome
HP:0000407	Sensorineural hearing impairment
HP:0000483	Astigmatism
HP:0000508	Ptosis
HP:0000590	Progressive external ophthalmoplegia
HP:0000646	Amblyopia
HP:0000821	Hypothyroidism
HP:0001511	Intrauterine growth retardation
HP:0001562	Oligohydramnios
HP:0001638	Cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001695	Cardiac arrest
HP:0001712	Left ventricular hypertrophy
HP:0002151	Increased circulating lactate concentration
HP:0002181	Cerebral edema
HP:0002240	Hepatomegaly
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003128	Lactic acidosis
HP:0003198	Myopathy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003546	Exercise intolerance
HP:0003577	Congenital onset
HP:0003584	Late onset
HP:0003621	Juvenile onset
HP:0003623	Neonatal onset
HP:0008347	Decreased activity of mitochondrial complex IV
HP:0010851	EEG with burst suppression
HP:0011923	Decreased activity of mitochondrial complex I
HP:0011924	Decreased activity of mitochondrial complex III

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002318_14	Rheumatoid arthritis	2.000000e-09
GCST006959_103	Rheumatoid arthritis	7.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066363 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.46	Kd	34.81	nM	CHEMBL3752910
7.46	ED50	34.81	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149835: Binding affinity to human C1QBP incubated for 45 mins by Kinobead based pull down assay	kd	0.0348	uM

CTD chemical–gene interactions

68 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Dactinomycin	decreases response to substance, affects cotreatment, increases secretion	2
Tretinoin	decreases expression	2
Valproic Acid	affects expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
FR900359	increases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	affects expression	1
methylselenic acid	decreases expression	1
nobiletin	decreases expression, decreases reaction	1
sodium arsenate	decreases expression, decreases reaction	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	affects cotreatment, decreases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
butylidenephthalide	increases expression	1
cupric oxide	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	1
microcystin RR	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	decreases expression	1
corosolic acid	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
bisphenol S	affects expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652877	Binding	Binding affinity to human C1QBP incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

8 cell lines: 5 cancer cell line, 2 induced pluripotent stem cell, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D1VG	Abcam A-549 C1QBP KO	Cancer cell line	Male
CVCL_D2A2	Abcam HCT 116 C1QBP KO	Cancer cell line	Male
CVCL_D9AF	Ubigene HEK293 C1QBP KO	Transformed cell line	Female
CVCL_D9YX	Ubigene HeLa C1QBP KO	Cancer cell line	Female
CVCL_E1SV	HAP1 C1QBP (-) 2	Cancer cell line	Male
CVCL_SG27	HAP1 C1QBP (-) 1	Cancer cell line	Male
CVCL_ZB26	XACHi010-A	Induced pluripotent stem cell	Male
CVCL_ZB27	XACHi011-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

103 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03351998	PHASE4	COMPLETED	Impact of Statin Therapy on Muscle Mitochondrial Function and Aerobic Capacity
NCT00432744	PHASE3	COMPLETED	Phase III Trial of Coenzyme Q10 in Mitochondrial Disease
NCT05162768	PHASE3	COMPLETED	Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD)
NCT06451757	PHASE3	RECRUITING	KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
NCT02398201	PHASE2	COMPLETED	A Study of Bezafibrate in Mitochondrial Myopathy
NCT02473445	PHASE2	TERMINATED	A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT02805790	PHASE2	COMPLETED	Safety, Tolerability, Efficacy of MTP-131 for Treatment of Mitochondrial Disease in Subjects From the MMPOWER Study
NCT02909400	PHASE2	COMPLETED	The KHENERGY Study
NCT02976038	PHASE2	TERMINATED	Open-Label Extension Trial to Characterize the Long-term Safety and Tolerability of Elamipretide in Subjects With Genetically Confirmed Primary Mitochondrial Myopathy (PMM)
NCT03177798	PHASE2	COMPLETED	Mitochondria and Chronic Kidney Disease
NCT03866954	PHASE2	WITHDRAWN	Trial of Erythrocyte Encapsulated Thymidine Phosphorylase In Mitochondrial Neurogastrointestinal Encephalomyopathy
NCT04165239	PHASE2	COMPLETED	The KHENERGYZE Study
NCT04604548	PHASE2	COMPLETED	The KHENEREXT Study
NCT04802707	PHASE2	RECRUITING	Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
NCT04846036	PHASE2	SUSPENDED	The KHENERGYC Study
NCT05650229	PHASE2	RECRUITING	Efficacy of KL1333 in Adult Patients With Primary Mitochondrial Disease
NCT05972954	PHASE2	COMPLETED	OMT-28 in Patients With Primary Mitochondrial Disease (PMD) (PMD-OPTION)
NCT06017869	PHASE2	RECRUITING	Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)
NCT07514338	PHASE2	NOT_YET_RECRUITING	Open Label Extension to Assess Long Term Safety and Efficacy of KL1333 in Patients With Primary Mitochondrial Disease
NCT00060515	PHASE1	TERMINATED	RG2133 (2’,3’,5’-Tri-O-Acetyluridine) in Mitochondrial Disease
NCT02348125	PHASE1	UNKNOWN	Does Clinical Treatment of Mitochondrial Dysfunction Impact Autism Spectrum Disorder (ASD)?
NCT02544217	PHASE1	COMPLETED	A Dose-escalating Clinical Trial With KH176
NCT03888716	PHASE1	COMPLETED	A Phase Ia/Ib, SAD and MAD Study of of KL1333 in Healthy Subjects and Patients With Primary Mitochondrial Disease
NCT04086329	PHASE1	RECRUITING	Validation of Oxygen Nanosensor in Mitochondrial Myopathy
NCT04643249	PHASE1	COMPLETED	Drug-drug Interaction Study of KL1333 in Healthy Subjects
NCT05241262	PHASE1	RECRUITING	Study of N-acetylcysteine in the Treatment of Patients With the m.3243A>G Mutation and Low Brain Glutathione Levels
NCT05569122	PHASE1	RECRUITING	Applying pGz in Mitochondrial Disease
NCT06819683	PHASE1	RECRUITING	Validation of Nanosensor Oxygen Measurement
NCT07258667	PHASE1	NOT_YET_RECRUITING	Pilot Study of the Efficacy of Nicotinamide (Vitamin B3) in Leber’s Hereditary Optic Neuropathy
NCT04378075	PHASE2/PHASE3	TERMINATED	A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT03384420	PHASE1/PHASE2	COMPLETED	A Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD in Pediatric Patients With Pearson Syndrome
NCT06051448	PHASE1/PHASE2	COMPLETED	Promoting Resilience in Stress Management (PRISM) and Clinical-focused Narrative (CFN) Pilot in Adults With Primary Mitochondrial Disease (PMD).
NCT01252979	EARLY_PHASE1	COMPLETED	Ketones & Mitochondrial Heteroplasmy
NCT00786539	Not specified	COMPLETED	Mitochondria Inborn Errors of Metabolism and ANT Defects in Mitochondria Diseases
NCT00829270	Not specified	COMPLETED	Economic and Medical Evaluation of the Whole Mitochondrial DNA Screening by Surveyor and Mitochips Techniques
NCT00831948	Not specified	UNKNOWN	Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
NCT01001585	Not specified	TERMINATED	Anesthetic Effects in Mitochondrial Disease
NCT01148550	Not specified	SUSPENDED	Longitudinal Study of Mitochondrial Hepatopathies