MICOS13

Summary

MICOS13 (mitochondrial contact site and cristae organizing system subunit 13, HGNC:33702) is a protein-coding gene on chromosome 19p13.3, encoding MICOS complex subunit MIC13 (Q5XKP0). Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. It is a selective cancer dependency (DepMap: 14.5% of cell lines).

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37.

Source: NCBI Gene 125988 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Definitive, ClinGen) — +1 more curated relationship
• Clinical variants (ClinVar): 21 total — 2 pathogenic
• Phenotypes (HPO): 47
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 14.5% of screened cell lines
• MANE Select transcript: NM_205767

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33702
Approved symbol	MICOS13
Name	mitochondrial contact site and cristae organizing system subunit 13
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	QIL1, P117, MIC13, MIC12
Ensembl gene	ENSG00000174917
Ensembl biotype	protein_coding
OMIM	616658
Entrez	125988

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000309324, ENST00000585605, ENST00000587589, ENST00000587950, ENST00000590075, ENST00000590389, ENST00000896351, ENST00000917836

RefSeq mRNA: 3 — MANE Select: NM_205767 NM_001308240, NM_001365761, NM_205767

CCDS: CCDS12143, CCDS77221

Canonical transcript exons

ENST00000309324 — 4 exons

Exon	Start	End
ENSE00001291271	5680458	5680516
ENSE00001313823	5678422	5678648
ENSE00003662989	5679345	5679396
ENSE00003688464	5679586	5679763

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 99.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.1557 / max 249.6912, expressed in 1825 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178552	52.1207	1824
178553	2.9627	1591
178551	2.3849	1260
178554	0.8899	661
178555	0.6595	400
208662	0.4544	251
178550	0.4252	209
178557	0.2334	51
178556	0.0251	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.26	gold quality
left testis	UBERON:0004533	98.85	gold quality
right atrium auricular region	UBERON:0006631	98.84	gold quality
right testis	UBERON:0004534	98.81	gold quality
cardiac atrium	UBERON:0002081	98.68	gold quality
heart left ventricle	UBERON:0002084	98.68	gold quality
cardiac ventricle	UBERON:0002082	98.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.58	gold quality
gastrocnemius	UBERON:0001388	98.37	gold quality
mucosa of transverse colon	UBERON:0004991	98.33	gold quality
anterior cingulate cortex	UBERON:0009835	98.29	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.24	gold quality
left ventricle myocardium	UBERON:0006566	98.21	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.17	gold quality
prefrontal cortex	UBERON:0000451	98.16	gold quality
lower esophagus	UBERON:0013473	98.16	gold quality
heart	UBERON:0000948	98.10	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.10	gold quality
hypothalamus	UBERON:0001898	97.98	gold quality
left coronary artery	UBERON:0001626	97.97	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.97	gold quality
muscle of leg	UBERON:0001383	97.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.94	gold quality
tibialis anterior	UBERON:0001385	97.91	gold quality
right frontal lobe	UBERON:0002810	97.90	gold quality
amygdala	UBERON:0001876	97.85	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.84	gold quality
metanephros cortex	UBERON:0010533	97.81	gold quality
adenohypophysis	UBERON:0002196	97.71	gold quality
nucleus accumbens	UBERON:0001882	97.70	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.28

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

3 targeting MICOS13, 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-MIR-11399	98.71	65.69	869
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-6781-5P	94.61	59.49	155

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 14.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 5)

• we identified QIL1 (C19orf70) as a novel conserved MICOS subunit. (PMID:25997101)
• MIC13 has a fundamental role in crista junction formation and that assembly of respiratory chain supercomplexes is independent of mitochondrial cristae shape. (PMID:27479602)
• Mitochondrial hepato-encephalopathy patients were found to be homozygous for the p.(Gly15Glufs*75) variant in the QIL1 . QIL1 deficiency is associated with disassembly of the MICOS complex, aberration of cristae morphology and mitochondrial respiratory dysfunction. (PMID:27485409)
• Taken together, these data provide the first evidence of altered mitochondrial contact site assembly linked with a human mitochondrial disease and confirm a central role for QIL1 in stable mitochondrial contact site complex formation. (PMID:27623147)
• Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes. (PMID:34271005)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	micos13	ENSDARG00000071378
mus_musculus	Micos13	ENSMUSG00000049760
rattus_norvegicus	Micos13	ENSRNOG00000046002

Protein

Protein identifiers

MICOS complex subunit MIC13 — Q5XKP0 (reviewed: Q5XKP0)

Alternative names: Protein P117

All UniProt accessions (4): Q5XKP0, A0A140TA84, A0A140TA86, K7EIR2

UniProt curated annotations — full annotation on UniProt →

Function. Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Constituent of mature MICOS complex, it is required for the formation of cristae junction (CJ) and maintenance of cristae morphology. Required for the incorporation of MICOS10/MIC10 into the MICOS complex.

Subunit / interactions. Component of the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOO/MIC26, MICOS13/MIC13, APOOL/MIC27 and IMMT/MIC60. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9. The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex.

Subcellular location. Mitochondrion inner membrane.

Disease relevance. Combined oxidative phosphorylation deficiency 37 (COXPD37) [MIM:618329] An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the MICOS complex subunit Mic13 family.

RefSeq proteins (3): NP_001295169, NP_001352690, NP_991330* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026769	Mic13	Family

Pfam: PF15884

UniProt features (5 total): topological domain 2, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5XKP0-F1	86.01	0.45

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8949613	Cristae formation
R-HSA-1592230	Mitochondrial biogenesis
R-HSA-1852241	Organelle biogenesis and maintenance

MSigDB gene sets: 210 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_CRISTAE_FORMATION, GOBP_INNER_MITOCHONDRIAL_MEMBRANE_ORGANIZATION, GOCC_MITOCHONDRIAL_ENVELOPE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, RFX1_02, GOBP_MEMBRANE_ORGANIZATION, GOCC_ORGANELLE_MEMBRANE_CONTACT_SITE, GOCC_OUTER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX, GOCC_ORGANELLE_INNER_MEMBRANE, GOCC_INNER_MITOCHONDRIAL_MEMBRANE_PROTEIN_COMPLEX, GOCC_MEMBRANE_PROTEIN_COMPLEX, GOCC_MITOCHONDRIAL_PROTEIN_CONTAINING_COMPLEX, chr19p13, STAT1_02

GO Biological Process (2): inner mitochondrial membrane organization (GO:0007007), cristae formation (GO:0042407)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): SAM complex (GO:0001401), nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial crista junction (GO:0044284), MICOS complex (GO:0061617), MIB complex (GO:0140275), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Mitochondrial biogenesis	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
inner mitochondrial membrane protein complex	2
mitochondrial membrane organization	1
inner mitochondrial membrane organization	1
binding	1
mitochondrial outer membrane translocase complex	1
nuclear lumen	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrial inner membrane	1
organelle membrane contact site	1

Protein interactions and networks

STRING

1342 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MICOS13	APOO	Q9BUR5	993
MICOS13	APOOL	Q6UXV4	991
MICOS13	CHCHD3	Q9NX63	984
MICOS13	CHCHD6	Q9BRQ6	982
MICOS13	CHCHD5	Q9BSY4	937
MICOS13	IMMT	Q16891	937
MICOS13	MICOS10	Q5TGZ0	912
MICOS13	MTX2	O75431	756
MICOS13	SAMM50	Q9Y512	752
MICOS13	CHCHD10	Q8WYQ3	738
MICOS13	DNAJC11	Q9NVH1	621
MICOS13	ARMC1	Q9NVT9	584
MICOS13	MTX1	Q13505	506
MICOS13	B8ZZ87	B8ZZ87	480
MICOS13	HSD11B1L	Q7Z5J1	436

IntAct

73 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
PKN3	ARHGAP10	psi-mi:“MI:0914”(association)	0.680
MICOS13	APOC1	psi-mi:“MI:0915”(physical association)	0.560
TEX44	MICOS13	psi-mi:“MI:0915”(physical association)	0.560
MICOS13	ACSF2	psi-mi:“MI:0915”(physical association)	0.560
APOC1	MICOS13	psi-mi:“MI:0915”(physical association)	0.560
MICOS13	HSFX1	psi-mi:“MI:0915”(physical association)	0.560
MICOS13	DIABLO	psi-mi:“MI:0915”(physical association)	0.560
MICOS13	RHBDD2	psi-mi:“MI:0915”(physical association)	0.560
APOC4	MICOS13	psi-mi:“MI:0915”(physical association)	0.560
MICOS13	PBX3	psi-mi:“MI:0915”(physical association)	0.560
Gpsm1	OARD1	psi-mi:“MI:0914”(association)	0.350
Smn1	CLNS1A	psi-mi:“MI:0914”(association)	0.350
Tmed10	TARS3	psi-mi:“MI:0914”(association)	0.350
HIF1A	PIAS1	psi-mi:“MI:0914”(association)	0.350
RAB5A	ENTPD6	psi-mi:“MI:0914”(association)	0.350
	ESYT2	psi-mi:“MI:0914”(association)	0.350
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
NS1	HAX1	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
MICOS13	MTX2	psi-mi:“MI:0914”(association)	0.350
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350

BioGRID (86): C19orf70 (Affinity Capture-MS), C19orf70 (Affinity Capture-MS), C19orf70 (Affinity Capture-MS), C19orf70 (Affinity Capture-MS), C19orf70 (Affinity Capture-MS), CHCHD6 (Affinity Capture-MS), MTX2 (Affinity Capture-MS), APOOL (Affinity Capture-MS), DNAJC11 (Affinity Capture-MS), SAMM50 (Affinity Capture-MS), APOO (Affinity Capture-MS), CHCHD3 (Affinity Capture-MS), MTX1 (Affinity Capture-MS), IMMT (Affinity Capture-MS), STOML2 (Affinity Capture-MS)

ESM2 similar proteins: A1L2P2, A1XQR7, A8E7D3, A8MTT3, L0R6Q1, O48832, O64497, O82803, P11951, P13183, P14790, P24311, P43883, P46270, P80977, Q148H0, Q1LUK1, Q1MTD4, Q1RMH3, Q21154, Q28EM2, Q2ACH7, Q41112, Q4V8S3, Q5BKW8, Q5CZQ0, Q5R987, Q5XFV8, Q5XKP0, Q63ZZ0, Q68EV8, Q7SGT7, Q7YRK0, Q7YRK1, Q810Q5, Q84K90, Q8BH51, Q8BTE5, Q8R404, Q8VCR3

Diamond homologs: A1XQR7, Q1LUK1, Q2ACH7, Q5XKP0, Q8R404

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	4
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
425157	NM_205767.3(MICOS13):c.260-2A>G	Pathogenic
619099	NM_205767.3(MICOS13):c.30-1G>A	Pathogenic

SpliceAI

576 predictions. Top by Δscore:

Variant	Effect	Δscore
19:5678646:TGC:T	acceptor_gain	1.0000
19:5678649:C:CC	acceptor_gain	1.0000
19:5679584:ACCTG:A	donor_loss	1.0000
19:5679621:A:AC	donor_gain	1.0000
19:5679622:C:CC	donor_gain	1.0000
19:5679622:CTGG:C	donor_gain	1.0000
19:5679651:C:CT	donor_gain	1.0000
19:5679652:C:CT	donor_gain	1.0000
19:5679759:GGAAC:G	acceptor_gain	1.0000
19:5679760:GAAC:G	acceptor_gain	1.0000
19:5679761:AAC:A	acceptor_gain	1.0000
19:5679762:AC:A	acceptor_gain	1.0000
19:5679763:CC:C	acceptor_gain	1.0000
19:5679764:C:CC	acceptor_gain	1.0000
19:5679764:CTG:C	acceptor_loss	1.0000
19:5679771:C:CT	acceptor_gain	1.0000
19:5678644:GATGC:G	acceptor_gain	0.9900
19:5678645:ATGC:A	acceptor_gain	0.9900
19:5678647:GC:G	acceptor_gain	0.9900
19:5678648:CC:C	acceptor_gain	0.9900
19:5679339:CCTTA:C	donor_loss	0.9900
19:5679340:CTTA:C	donor_loss	0.9900
19:5679341:TTA:T	donor_loss	0.9900
19:5679342:TA:T	donor_loss	0.9900
19:5679343:A:C	donor_loss	0.9900
19:5679344:C:CA	donor_loss	0.9900
19:5679393:GGAG:G	acceptor_gain	0.9900
19:5679397:C:A	acceptor_loss	0.9900
19:5679397:C:CC	acceptor_gain	0.9900
19:5679398:T:C	acceptor_loss	0.9900

AlphaMissense

755 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:5679745:A:C	S16R	0.987
19:5679745:A:T	S16R	0.987
19:5679747:T:G	S16R	0.987
19:5679740:G:T	A18D	0.978
19:5679750:C:G	G15R	0.973
19:5679750:C:T	G15R	0.973
19:5679354:A:G	W84R	0.966
19:5679354:A:T	W84R	0.966
19:5679751:C:A	K14N	0.959
19:5679751:C:G	K14N	0.959
19:5679734:C:T	G20D	0.953
19:5679737:C:T	G19E	0.949
19:5678615:G:T	A98D	0.945
19:5679352:C:A	W84C	0.939
19:5679352:C:G	W84C	0.939
19:5679728:A:T	V22D	0.939
19:5679735:C:G	G20R	0.939
19:5679726:A:C	Y23D	0.933
19:5679738:C:G	G19R	0.932
19:5679738:C:T	G19R	0.932
19:5679749:C:T	G15E	0.931
19:5679650:A:T	V48D	0.928
19:5679682:G:C	S37R	0.922
19:5679682:G:T	S37R	0.922
19:5679684:T:G	S37R	0.922
19:5678624:A:T	L95Q	0.920
19:5678583:C:G	G109R	0.917
19:5679353:C:G	W84S	0.914
19:5679731:G:T	A21D	0.914
19:5679743:A:T	V17E	0.913

dbSNP variants (sampled 300 via entrez): RS1000427507 (19:5678041 G>A,C), RS1000919098 (19:5682248 A>G), RS1001427927 (19:5679458 C>A,T), RS1001555579 (19:5681339 C>T), RS1001876063 (19:5679993 G>A,C), RS1001901704 (19:5681078 T>A,C), RS1002771968 (19:5680482 A>C), RS1003545178 (19:5678648 C>T), RS1003759485 (19:5680660 C>T), RS1004733655 (19:5681653 T>C), RS1004761985 (19:5681869 A>G,T), RS1005086575 (19:5681436 A>G), RS1005163778 (19:5678662 A>C), RS1005992221 (19:5680782 T>A,C), RS1006813125 (19:5680567 T>C)

Disease associations

OMIM: gene MIM:616658 | disease phenotypes: MIM:618329

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial disease	Definitive	Autosomal recessive
3-methylglutaconic aciduria type 3	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Definitive	AR

Mondo (3): combined oxidative phosphorylation deficiency 37 (MONDO:0032679), mitochondrial disease (MONDO:0044970), 3-methylglutaconic aciduria type 3 (MONDO:0009787)

Orphanet (0):

HPO phenotypes

47 total (30 of 47 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000505	Visual impairment
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001266	Choreoathetosis
HP:0001272	Cerebellar atrophy
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001321	Cerebellar hypoplasia
HP:0001347	Hyperreflexia
HP:0001403	Macrovesicular hepatic steatosis
HP:0001408	Bile duct proliferation
HP:0001410	Decreased liver function
HP:0001508	Failure to thrive
HP:0001639	Hypertrophic cardiomyopathy
HP:0001943	Hypoglycemia
HP:0002045	Hypothermia
HP:0002093	Respiratory insufficiency
HP:0002151	Increased circulating lactate concentration
HP:0002313	Spastic paraparesis
HP:0002344	Progressive neurologic deterioration
HP:0002421	Poor head control

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535311	Costeff optic atrophy syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067437 (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
6.77	Kd	169.1	nM	CHEMBL5653589
6.77	ED50	169.1	nM	CHEMBL5653589

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-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149164: Binding affinity to human QIL1 incubated for 45 mins by Kinobead based pull down assay	kd	0.1691	uM

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	3
sodium arsenite	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
arsenite	affects binding, decreases reaction, increases reaction	1
chloropicrin	increases expression	1
2-palmitoylglycerol	increases expression	1
K 7174	decreases expression	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Methotrexate	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Antirheumatic Agents	affects cotreatment, decreases expression	1
Particulate Matter	decreases expression, increases abundance	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
CHEMBL5652206	Binding	Binding affinity to human QIL1 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

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SG13	HAP1 C19orf70 (-) 1	Cancer cell line	Male
CVCL_SG14	HAP1 C19orf70 (-) 2	Cancer cell line	Male

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