NDUFA7

Summary

NDUFA7 (NADH:ubiquinone oxidoreductase subunit A7, HGNC:7691) is a protein-coding gene on chromosome 19p13.2, encoding NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 (O95182). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis.

This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain.

Source: NCBI Gene 4701 — RefSeq curated summary.

At a glance

• Gene–disease (curated): optic atrophy (Limited, GenCC)
• Clinical variants (ClinVar): 28 total
• Druggable target: yes
• MANE Select transcript: NM_005001

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7691
Approved symbol	NDUFA7
Name	NADH:ubiquinone oxidoreductase subunit A7
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	B14.5a
Ensembl gene	ENSG00000267855
Ensembl biotype	protein_coding
OMIM	602139
Entrez	4701

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 3 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000301457, ENST00000593729, ENST00000595856, ENST00000601101, ENST00000601258, ENST00000602059, ENST00000870893, ENST00000930188

RefSeq mRNA: 1 — MANE Select: NM_005001 NM_005001

CCDS: CCDS42492

Canonical transcript exons

ENST00000301457 — 4 exons

Exon	Start	End
ENSE00003137915	8311284	8311595
ENSE00003154174	8321308	8321375
ENSE00003530438	8316496	8316645
ENSE00003603271	8320857	8320906

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 98.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 165.1616 / max 735.5803, expressed in 1827 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178939	163.4025	1827
178935	1.6198	723
178936	0.1392	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	98.61	gold quality
apex of heart	UBERON:0002098	98.44	gold quality
gastrocnemius	UBERON:0001388	98.23	gold quality
muscle of leg	UBERON:0001383	97.94	gold quality
adenohypophysis	UBERON:0002196	97.50	gold quality
left adrenal gland cortex	UBERON:0035825	97.16	gold quality
right adrenal gland	UBERON:0001233	97.09	gold quality
left adrenal gland	UBERON:0001234	97.08	gold quality
right atrium auricular region	UBERON:0006631	96.88	gold quality
right adrenal gland cortex	UBERON:0035827	96.81	gold quality
anterior cingulate cortex	UBERON:0009835	96.56	gold quality
mucosa of transverse colon	UBERON:0004991	96.55	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.23	gold quality
cardiac atrium	UBERON:0002081	96.14	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.01	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.96	gold quality
heart left ventricle	UBERON:0002084	95.83	gold quality
prefrontal cortex	UBERON:0000451	95.74	gold quality
right frontal lobe	UBERON:0002810	95.70	gold quality
body of stomach	UBERON:0001161	95.61	gold quality
lower esophagus mucosa	UBERON:0035834	95.42	gold quality
right lobe of liver	UBERON:0001114	95.33	gold quality
islet of Langerhans	UBERON:0000006	95.31	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.28	gold quality
lower esophagus	UBERON:0013473	95.27	gold quality
transverse colon	UBERON:0001157	95.08	gold quality
adrenal cortex	UBERON:0001235	95.04	gold quality
metanephros cortex	UBERON:0010533	94.98	gold quality
hypothalamus	UBERON:0001898	94.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.91	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	27.79
E-ANND-3	yes	17.77
E-HCAD-13	yes	7.26
E-GEOD-93593	no	7.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

32 targeting NDUFA7, 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-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-7844-5P	99.55	68.56	1428
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-4695-5P	99.06	64.87	1151
HSA-MIR-7113-3P	98.75	65.71	1120

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ndufa7	ENSDARG00000036684
mus_musculus	Ndufa7	ENSMUSG00000041881
drosophila_melanogaster	ND-B14.5A	FBGN0025839
drosophila_melanogaster	ND-B14.5AL	FBGN0037172
caenorhabditis_elegans		WBGENE00009740

Protein

Protein identifiers

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7 — O95182 (reviewed: O95182)

Alternative names: Complex I-B14.5a, NADH-ubiquinone oxidoreductase subunit B14.5a

All UniProt accessions (3): O95182, M0R0N0, M0R1K9

UniProt curated annotations — full annotation on UniProt →

Function. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

Subunit / interactions. Complex I is composed of 45 different subunits.

Subcellular location. Mitochondrion inner membrane.

Similarity. Belongs to the complex I NDUFA7 subunit family.

RefSeq proteins (1): NP_004992* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009947	NDUA7	Family

Pfam: PF07347

UniProt features (10 total): modified residue 3, helix 3, initiator methionine 1, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
9I4I	ELECTRON MICROSCOPY	2.63
9TI4	ELECTRON MICROSCOPY	2.66
5XTB	ELECTRON MICROSCOPY	3.4
9CWT	ELECTRON MICROSCOPY	3.44
5XTD	ELECTRON MICROSCOPY	3.7
5XTH	ELECTRON MICROSCOPY	3.9
5XTI	ELECTRON MICROSCOPY	17.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95182-F1	87.94	0.74

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 (3): 2, 40, 96

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-611105	Respiratory electron transport
R-HSA-6799198	Complex I biogenesis
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism

MSigDB gene sets: 214 (showing top): HORIUCHI_WTAP_TARGETS_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, MODULE_77, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_HDAC1, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS

GO Biological Process (5): mitochondrial electron transport, NADH to ubiquinone (GO:0006120), aerobic respiration (GO:0009060), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), ATP synthesis coupled electron transport (GO:0042773), proton transmembrane transport (GO:1902600)

GO Molecular Function (2): NADH dehydrogenase (ubiquinone) activity (GO:0008137), protein binding (GO:0005515)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex I (GO:0045271), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Respiratory electron transport	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oxidative phosphorylation	2
aerobic electron transport chain	1
mitochondrial ATP synthesis coupled electron transport	1
cellular respiration	1
mitochondrion	1
proton motive force-driven ATP synthesis	1
respiratory electron transport chain	1
monoatomic cation transmembrane transport	1
NADH dehydrogenase activity	1
electron transfer activity	1
proton transmembrane transporter activity	1
oxidoreduction-driven active transmembrane transporter activity	1
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	1
active monoatomic ion transmembrane transporter activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
NADH dehydrogenase complex	1
respiratory chain complex	1
transmembrane transporter complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1924 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NDUFA7	NDUFA2	O43678	965
NDUFA7	NDUFA10	O95299	958
NDUFA7	NDUFA6	P56556	953
NDUFA7	NDUFB10	O96000	935
NDUFA7	NDUFB4	O95168	928
NDUFA7	NDUFS8	O00217	908
NDUFA7	NDUFB8	O95169	904
NDUFA7	NDUFB5	O43674	860
NDUFA7	NDUFB2	O95178	856
NDUFA7	NDUFS6	O75380	848
NDUFA7	NDUFA13	Q9P0J0	840
NDUFA7	NDUFB3	O43676	833
NDUFA7	NDUFA5	Q16718	832
NDUFA7	NDUFV2	P19404	830
NDUFA7	NDUFS1	P28331	829

IntAct

120 interactions, top by confidence:

A	B	Type	Score
NDUFS3	NDUFS8	psi-mi:“MI:0914”(association)	0.730
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
NDUFS6	NDUFS8	psi-mi:“MI:0914”(association)	0.640
NDUFA13	NDUFS8	psi-mi:“MI:0914”(association)	0.640
ENPP6	SCAMP1	psi-mi:“MI:0914”(association)	0.640
DNAJC30	NDUFA7	psi-mi:“MI:0914”(association)	0.640
NDUFA9	NDUFS4	psi-mi:“MI:0914”(association)	0.640
NDUFS7	NDUFS8	psi-mi:“MI:0914”(association)	0.640
NDUFAF2	NDUFA7	psi-mi:“MI:0915”(physical association)	0.620
NDUFA7	LMO1	psi-mi:“MI:0915”(physical association)	0.560
NDUFA7	TTPA	psi-mi:“MI:0915”(physical association)	0.560
NDUFA7	RTP2	psi-mi:“MI:0915”(physical association)	0.560
NDUFS5	NDUFS8	psi-mi:“MI:0914”(association)	0.530
NDUFA9	NDUFS8	psi-mi:“MI:0914”(association)	0.530
NDUFA8	NDUFS8	psi-mi:“MI:0914”(association)	0.530
FUT1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
SSMEM1	NDUFA7	psi-mi:“MI:0914”(association)	0.530
NDUFS5	NDUFS4	psi-mi:“MI:0914”(association)	0.530

BioGRID (277): NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS), NDUFA7 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D1V3Z0, A1DL98, A3RM20, A6ZMG4, B3LLZ8, B6KEU8, C7GWA2, C8ZEW0, G2HK15, O56774, O94629, O95182, P03417, P06747, P14849, P15198, P16286, P18446, P18448, P19968, P22363, P69479, P69480, Q04438, Q04572, Q05752, Q0CH76, Q0GBX8, Q0MQA6, Q0MQA7, Q0MQA8, Q0ZME3, Q14EA6, Q2U6N1, Q5MQC6, Q64152, Q66T64, Q6C6D6, Q6FK07, Q6X1D3

Diamond homologs: O95182, Q05752, Q0MQA6, Q0MQA7, Q0MQA8, Q9Z1P6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NDUFA7	“form complex”	“NADH-ubiquinone oxidoreductase-Mitochondrial respiratory chain complex I”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 98 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
Complex I biogenesis	21	49.0×	1e-28
Respiratory electron transport	23	30.8×	9e-27
Aerobic respiration and respiratory electron transport	21	26.2×	8e-23
Complex IV assembly	5	16.1×	7e-04
Mitochondrial protein degradation	7	11.3×	2e-04
RHOG GTPase cycle	5	10.4×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial electron transport, NADH to ubiquinone	16	70.0×	5e-24
proton motive force-driven mitochondrial ATP synthesis	19	61.0×	5e-27
aerobic respiration	19	57.4×	9e-27
mitochondrial respiratory chain complex I assembly	10	50.1×	6e-13

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

824 predictions. Top by Δscore:

Variant	Effect	Δscore
19:8311451:C:CA	donor_gain	1.0000
19:8320856:CCG:C	donor_gain	1.0000
19:8321316:C:CA	donor_gain	1.0000
19:8308886:T:C	acceptor_gain	0.9900
19:8311596:C:CC	acceptor_gain	0.9900
19:8316510:G:A	donor_gain	0.9900
19:8316644:TT:T	acceptor_gain	0.9900
19:8316644:TTC:T	acceptor_loss	0.9900
19:8316644:TTCTG:T	acceptor_loss	0.9900
19:8316645:TCT:T	acceptor_loss	0.9900
19:8316645:TCTGA:T	acceptor_loss	0.9900
19:8316646:C:CC	acceptor_gain	0.9900
19:8316646:C:T	acceptor_loss	0.9900
19:8321322:T:TA	donor_gain	0.9900
19:8321328:G:C	donor_gain	0.9900
19:8308886:T:TC	acceptor_gain	0.9800
19:8311591:CAGAG:C	acceptor_gain	0.9800
19:8311593:GAG:G	acceptor_gain	0.9800
19:8311593:GAGC:G	acceptor_loss	0.9800
19:8311594:AGCTG:A	acceptor_gain	0.9800
19:8311595:GC:G	acceptor_loss	0.9800
19:8311595:GCTGG:G	acceptor_gain	0.9800
19:8311596:CTG:C	acceptor_loss	0.9800
19:8311597:T:A	acceptor_loss	0.9800
19:8316490:CCTCA:C	donor_loss	0.9800
19:8316491:CTCA:C	donor_loss	0.9800
19:8316492:TCAC:T	donor_loss	0.9800
19:8316492:TCACC:T	donor_loss	0.9800
19:8316493:C:CG	donor_loss	0.9800
19:8316493:CA:C	donor_loss	0.9800

AlphaMissense

708 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:8316569:G:T	R60S	0.983
19:8320879:G:T	R27S	0.980
19:8316568:C:G	R60P	0.977
19:8321324:C:G	R12P	0.973
19:8316577:C:G	R57P	0.967
19:8316565:C:G	R61P	0.966
19:8316591:A:C	N52K	0.966
19:8316591:A:T	N52K	0.966
19:8316575:C:G	D58H	0.964
19:8316617:C:G	G44R	0.960
19:8316573:A:C	D58E	0.953
19:8316573:A:T	D58E	0.953
19:8316574:T:A	D58V	0.953
19:8316574:T:G	D58A	0.947
19:8316569:G:C	R60G	0.946
19:8316578:G:T	R57S	0.945
19:8321348:G:T	A4D	0.944
19:8316587:A:C	Y54D	0.942
19:8320878:C:G	R27P	0.941
19:8316616:C:T	G44D	0.930
19:8321327:A:G	L11P	0.927
19:8320879:G:C	R27G	0.923
19:8320881:A:G	L26P	0.921
19:8321345:G:A	T5I	0.920
19:8320876:A:C	Y28D	0.919
19:8320857:C:G	R34P	0.918
19:8321354:G:T	A2E	0.909
19:8311509:A:G	L113P	0.905
19:8316574:T:C	D58G	0.900
19:8320876:A:G	Y28H	0.896

dbSNP variants (sampled 300 via entrez): RS1000026642 (19:8309461 G>A), RS1000053195 (19:8319110 G>A,T), RS1000105297 (19:8319245 T>C), RS1000277368 (19:8319560 C>A), RS1000281034 (19:8313672 T>C), RS1000326301 (19:8320233 G>T), RS1000612325 (19:8319932 ACCT>A), RS1000904558 (19:8314898 G>A), RS1001029617 (19:8310599 C>G), RS1001727621 (19:8311037 C>T), RS1001872183 (19:8308657 C>T), RS1001956315 (19:8316577 C>G,T), RS1002075244 (19:8321344 G>A,C,T), RS1002132462 (19:8321467 T>A,C,G), RS1002478212 (19:8309926 G>A,T)

Disease associations

OMIM: gene MIM:602139 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
optic atrophy	Limited	Autosomal recessive

Mondo (1): optic atrophy (MONDO:0003608)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009896	Optic Atrophy	C10.292.700.225; C11.640.451

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2363065 (PROTEIN COMPLEX)

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

ChEMBL bioactivities

8 potent at pChembl≥5 of 18 total, top 8 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.06	IC50	870	nM	R-(+)-MARMIN-6’-UNDECANOATE
6.04	IC50	920	nM	R-(+)-MARMIN-6’-LINOLEATE
5.63	IC50	2350	nM	R-(+)-MARMIN-6’-LINOLEATE
5.51	IC50	3080	nM	R-(+)-MARMIN-6’-OCTANOATE
5.43	IC50	3670	nM	R-(+)-MARMIN-6’-UNDECANOATE
5.43	IC50	3710	nM	R-(+)-MARMIN-6’-OCTANOATE
5.31	IC50	4900	nM	(+)-9’-ISOVALEROXYLARICIRESINOL
5.04	IC50	9100	nM	(+)-9’-ISOVALEROXYLARICIRESINOL

PubChem BioAssay actives

8 with measured affinity, of 28 total; 4 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
[(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] undecanoate	739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	ic50	0.8700	uM
[(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] (9Z,12Z)-octadeca-9,12-dienoate	739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	ic50	0.9200	uM
[(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] octanoate	739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	ic50	3.0800	uM
[(2S,3R,4R)-2-(4-hydroxy-3-methoxyphenyl)-4-[(4-hydroxy-3-methoxyphenyl)methyl]oxolan-3-yl]methyl 3-methylbutanoate	739269: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1,10-phenanthroline-induced HIF1 activation incubated for 30 mins prior to 1,10-phenanthroline-challenge measured after 16 hrs by luciferase reporter assay	ic50	4.9000	uM

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression	3
Acetaminophen	affects cotreatment, decreases expression, increases expression	2
Diethylhexyl Phthalate	decreases expression	2
beta-lapachone	increases expression, decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	decreases expression	1
ochratoxin A	increases expression	1
periodate-oxidized adenosine	affects expression	1
OSW 1	increases expression	1
K 7174	decreases expression	1
jinfukang	increases expression	1
Decitabine	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	increases expression	1
Niclosamide	decreases expression	1
Ozone	affects expression, increases abundance	1
Selenium	decreases expression, affects cotreatment	1
Smoke	decreases expression	1
Tunicamycin	decreases expression	1
Vinblastine	affects response to substance	1
Vitamin E	affects cotreatment, decreases expression	1
Cyclosporine	decreases expression	1
Thapsigargin	decreases expression	1
tert-Butylhydroperoxide	decreases expression	1
Particulate Matter	increases expression	1

ChEMBL screening assays

4 unique, capped per target: 4 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2353025	Binding	Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation at 30 uM incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay	Semisynthetic studies identify mitochondria poisons from botanical dietary supplements–geranyloxycoumarins from Aegle marmelos. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3C2	Abcam HEK293T NDUFA7 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01064505	PHASE1	COMPLETED	Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients
NCT05147701	PHASE1	RECRUITING	Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION
NCT02882477	PHASE2/PHASE3	UNKNOWN	Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone and Incretin Based Therapy
NCT01834079	PHASE1/PHASE2	UNKNOWN	Study the Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Optic Nerve Disease
NCT04680143	PHASE1/PHASE2	COMPLETED	Systemic Erythropoietin Injection in Patients Having Optic Atrophy
NCT03011541	Not specified	RECRUITING	Stem Cell Ophthalmology Treatment Study II
NCT04580979	Not specified	COMPLETED	Natural History Study of FDXR Mutation-related Mitochondriopathy
NCT04594590	Not specified	COMPLETED	Natural History Study of SLC25A46 Mutation-related Mitochondriopathy
NCT04723160	Not specified	COMPLETED	Computer Aided Diagnosis of Multiple Eye Fundus Diseases From Color Fundus Photograph
NCT06390579	Not specified	COMPLETED	Building Research With Artificial Intelligence in Neuro-Ophthalmology