MTERF1

Summary

MTERF1 (mitochondrial transcription termination factor 1, HGNC:21463) is a protein-coding gene on chromosome 7q21.2, encoding Transcription termination factor 1, mitochondrial (Q99551). Transcription termination factor.

This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding.

Source: NCBI Gene 7978 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 68 total
• MANE Select transcript: NM_006980

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21463
Approved symbol	MTERF1
Name	mitochondrial transcription termination factor 1
Location	7q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000127989
Ensembl biotype	protein_coding
OMIM	602318
Entrez	7978

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000351870, ENST00000406735, ENST00000419292, ENST00000425936, ENST00000442961, ENST00000454222, ENST00000456229, ENST00000481516, ENST00000867199, ENST00000867200, ENST00000939549, ENST00000939550

RefSeq mRNA: 3 — MANE Select: NM_006980 NM_001301134, NM_001301135, NM_006980

CCDS: CCDS5621, CCDS75629

Canonical transcript exons

ENST00000351870 — 3 exons

Exon	Start	End
ENSE00001031403	91880657	91880702
ENSE00001132795	91870929	91874764
ENSE00003666957	91880055	91880113

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 86.13.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7801 / max 258.3651, expressed in 1727 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84770	9.6914	1726
84769	0.0887	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	86.13	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.10	gold quality
calcaneal tendon	UBERON:0003701	84.91	gold quality
lymph node	UBERON:0000029	84.06	gold quality
endometrium	UBERON:0001295	83.24	gold quality
islet of Langerhans	UBERON:0000006	82.90	gold quality
cortical plate	UBERON:0005343	82.47	gold quality
adrenal tissue	UBERON:0018303	81.56	gold quality
leukocyte	CL:0000738	81.53	gold quality
monocyte	CL:0000576	81.47	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.45	gold quality
ventricular zone	UBERON:0003053	81.33	gold quality
ganglionic eminence	UBERON:0004023	80.37	gold quality
rectum	UBERON:0001052	80.30	gold quality
smooth muscle tissue	UBERON:0001135	79.91	gold quality
vermiform appendix	UBERON:0001154	79.86	gold quality
mucosa of transverse colon	UBERON:0004991	79.86	gold quality
stromal cell of endometrium	CL:0002255	79.68	gold quality
tonsil	UBERON:0002372	79.45	gold quality
duodenum	UBERON:0002114	78.78	gold quality
pancreas	UBERON:0001264	78.75	gold quality
uterus	UBERON:0000995	78.34	gold quality
heart left ventricle	UBERON:0002084	78.33	gold quality
right adrenal gland	UBERON:0001233	78.15	gold quality
spleen	UBERON:0002106	77.98	gold quality
granulocyte	CL:0000094	77.96	gold quality
apex of heart	UBERON:0002098	77.89	gold quality
placenta	UBERON:0001987	77.76	gold quality
heart	UBERON:0000948	77.73	gold quality
adrenal gland	UBERON:0002369	77.61	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.78
E-GEOD-99795	no	87.94

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYC

miRNA regulators (miRDB)

35 targeting MTERF1, 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-499A-5P	99.98	70.79	1323
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-491-3P	98.88	68.86	1224
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-502-5P	98.77	66.51	906
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-6830-3P	98.62	68.07	1760
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-6831-5P	98.26	67.20	990
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-3927-3P	97.68	66.76	892
HSA-MIR-4667-5P	97.61	66.67	1683
HSA-MIR-134-3P	96.83	66.22	1001
HSA-MIR-212-5P	96.83	67.43	950

Literature-anchored findings (GeneRIF, showing 14)

• mTERF exists in mitochondria in two forms, an active monomer and an inactive large size complex (PMID:14744862)
• monomeric human mTERF is fully active in its non-phosphorylated form and that the protein does not require additional cellular factors to terminate mitochondrial transcription in vitro (PMID:15899902)
• analysis of DNA light-strand preferential recognition of human mitochondria transcription termination factor mTERF (PMID:16336784)
• Results indicate a role for mTERF in mtDNA replication, in addition to its role in transcription. (PMID:17884915)
• mTERF mRNA levels were higher in elite athletes compared with moderately active subjects (PMID:19681768)
• Presented are the crystal structures of human mitochondrial regulator MTERF, a transcription termination factor also implicated in replication pausing, in complex with double-stranded DNA oligonucleotides containing the tRNA(Leu)(UUR) gene sequence. (PMID:20543826)
• The structure indicates that upon sequence recognition MTERF1 unwinds the DNA molecule, promoting eversion of three nucleotides. (PMID:20550934)
• Data show that mTERF protein levels materially affect the amount of readthrough transcription on the antisense strand of mtDNA, whilst the effects on sense-strand transcripts are complex, and suggest the influence of compensatory mechanisms. (PMID:20846394)
• Studies indicate that the structure of the mitochondrial transcription termination factor (MTERF1) provides insight into the mechanism of binding, recognition of the termination sequence and the conformational changes involved in mediating termination. (PMID:21326908)
• Single nucleotide polymorphism in MTERF gene is associated with epithelial ovarian cancer. (PMID:21447778)
• data suggested that hMTERF4 is an essential factor for cell proliferation, which is probably modulated by mitochondrial transcription to promote cell proliferation (PMID:21450691)
• MTERF1 has the ability to accommodate alternate active conformations. (PMID:26523681)
• It has been demonstrated that MTERF1 arrests mitochondrial DNA (mtDNA) replication with distinct polarity whereby MTERF1 acts as a directional contra-helicase, blocking mtDNA unwinding by the mitochondrial helicase TWINKLE. (PMID:27112570)
• FAK mediates hypoxia-induced pulmonary artery smooth muscle cell proliferation by modulating mitochondrial transcription termination factor 1/cyclin D1. (PMID:38488492)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000086107
mus_musculus	Mterf1a	ENSMUSG00000040429
mus_musculus	Mterf1b	ENSMUSG00000053178
rattus_norvegicus	Mterf1	ENSRNOG00000007899
drosophila_melanogaster	mTTF	FBGN0028530

Paralogs (1): MTERF2 (ENSG00000120832)

Protein

Protein identifiers

Transcription termination factor 1, mitochondrial — Q99551 (reviewed: Q99551)

Alternative names: Mitochondrial transcription termination factor 1

All UniProt accessions (5): Q99551, B4DPR9, C9JE25, C9JNM8, C9JU79

UniProt curated annotations — full annotation on UniProt →

Function. Transcription termination factor. Binds to a 28 bp region within the tRNA(Leu(uur)) gene at a position immediately adjacent to and downstream of the 16S rRNA gene; this region comprises a tridecamer sequence critical for directing accurate termination. Binds DNA along the major grove and promotes DNA bending and partial unwinding. Promotes base flipping. Transcription termination activity appears to be polarized with highest specificity for transcripts initiated on the light strand.

Subunit / interactions. Monomer.

Subcellular location. Mitochondrion.

Post-translational modifications. Phosphoprotein with mostly four phosphate groups. While the DNA-binding activity is unaffected by the phosphorylation state, only the phosphorylated form of the protein is active for termination activity. Functioning seems to be regulated by phosphorylation.

Domain organisation. Contains nine structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a left-handed superhelical assembly with a solenoid structure that wraps itself around DNA.

Similarity. Belongs to the mTERF family.

RefSeq proteins (3): NP_001288063, NP_001288064, NP_008911* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003690	MTERF	Family
IPR038538	MTERF_sf	Homologous_superfamily

Pfam: PF02536

UniProt features (55 total): helix 27, mutagenesis site 8, site 5, region of interest 5, turn 5, sequence variant 2, transit peptide 1, chain 1, strand 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
3MVA	X-RAY DIFFRACTION	2.2
3N7Q	X-RAY DIFFRACTION	2.4
5CRK	X-RAY DIFFRACTION	2.48
5CRJ	X-RAY DIFFRACTION	2.59
5CKY	X-RAY DIFFRACTION	2.62
5CO0	X-RAY DIFFRACTION	2.65
3MVB	X-RAY DIFFRACTION	2.79
3N6S	X-RAY DIFFRACTION	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99551-F1	84.99	0.80

Functional residue map

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

Catalytic / active sites (5): 288 (interaction with dna); 350 (interaction with dna); 162 (interaction with dna); 202 (interaction with dna); 243 (interaction with dna)

Mutagenesis-validated functional residues (8):

Position	Phenotype
162	reduces affinity for cognate dna; when associated with a-243 and a-288.
169	strongly reduces affinity for dna. strongly reduces transcription termination.
202	strongly reduces affinity for dna. strongly reduces transcription termination.
243	reduces affinity for cognate dna; when associated with a-162 and a-288.
251	strongly reduces transcription termination.
288	reduces affinity for cognate dna; when associated with a-162 and a-243.
350	reduces transcription termination.
387	strongly reduces affinity for cognate dna. strongly reduces transcription termination.

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-163316	Mitochondrial transcription termination
R-HSA-2151201	Transcriptional activation of mitochondrial biogenesis
R-HSA-1592230	Mitochondrial biogenesis
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-74160	Gene expression (Transcription)
R-HSA-75944	Transcription from mitochondrial promoters

MSigDB gene sets: 95 (showing top): GOBP_CHROMOSOME_ORGANIZATION, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_DNA_CONFORMATION_CHANGE, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, ELK1_01, DANG_BOUND_BY_MYC, NOUZOVA_METHYLATED_IN_APL, GOCC_NUCLEOID, GOCC_MITOCHONDRIAL_MATRIX, SCGGAAGY_ELK1_02, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_UP, GOBP_MITOCHONDRIAL_TRANSCRIPTION, GOBP_MITOCHONDRIAL_GENE_EXPRESSION, REACTOME_MITOCHONDRIAL_BIOGENESIS

GO Biological Process (4): DNA-templated transcription termination (GO:0006353), termination of mitochondrial transcription (GO:0006393), DNA geometric change (GO:0032392), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (5): nucleic acid binding (GO:0003676), double-stranded DNA binding (GO:0003690), RNA binding (GO:0003723), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), mitochondrial nucleoid (GO:0042645)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Transcription from mitochondrial promoters	1
Mitochondrial biogenesis	1
Organelle biogenesis and maintenance	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
DNA-templated transcription	2
binding	2
nucleic acid binding	2
RNA biosynthetic process	1
mitochondrial RNA metabolic process	1
DNA-templated transcription termination	1
mitochondrial transcription	1
DNA conformation change	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
DNA binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular organelle lumen	1
mitochondrial matrix	1
nucleoid	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1222 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTERF1	TFB2M	Q9H5Q4	858
MTERF1	MTERF3	Q96E29	840
MTERF1	POLRMT	O00411	830
MTERF1	TFB1M	Q8WVM0	818
MTERF1	MTERF4	Q7Z6M4	771
MTERF1	TEFM	Q96QE5	734
MTERF1	SP2	Q02086	657
MTERF1	NSUN4	Q96CB9	636
MTERF1	TFAM	Q00059	635
MTERF1	TWNK	Q96RR1	605
MTERF1	POLG2	Q9UHN1	529
MTERF1	SSBP1	Q04837	517
MTERF1	MRPL12	P52815	512
MTERF1	MT-ND6	P03923	494
MTERF1	MT-ND1	P03886	493

IntAct

24 interactions, top by confidence:

A	B	Type	Score
MAX	MYC	psi-mi:“MI:0914”(association)	0.980
MTERF1	PNPO	psi-mi:“MI:0915”(physical association)	0.590
TMEM128	MTERF1	psi-mi:“MI:0915”(physical association)	0.560
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
GABARAP		psi-mi:“MI:0914”(association)	0.350
ZNF467	ZNF320	psi-mi:“MI:0914”(association)	0.350
EIF1AD	CHEK1	psi-mi:“MI:0914”(association)	0.350
MRPL58		psi-mi:“MI:0914”(association)	0.350
TMEM128	MTERF1	psi-mi:“MI:0915”(physical association)	0.000
EXOC6B	MTERF1	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	SET	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	MAP1B	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	DCTN1	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	SYTL2	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	DNAJC21	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	TENM3	psi-mi:“MI:0915”(physical association)	0.000
ANK2	MTERF1	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	CTNNAL1	psi-mi:“MI:0915”(physical association)	0.000
MTERF1	GOLPH2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (20): PNPO (Affinity Capture-MS), MTERF1 (Affinity Capture-MS), MTERF1 (Affinity Capture-MS), PNPO (Affinity Capture-MS), TMEM128 (Two-hybrid), MTERF1 (Affinity Capture-MS), MTERF1 (Affinity Capture-MS), PNPO (Affinity Capture-MS), MTERF1 (Affinity Capture-MS), MTERF1 (Affinity Capture-RNA), MTERF1 (Proximity Label-MS), MTERF1 (Affinity Capture-MS), GGCT (Cross-Linking-MS (XL-MS)), MTERF1 (Cross-Linking-MS (XL-MS)), MTERF1 (Affinity Capture-MS)

ESM2 similar proteins: A2WX30, A2XEV1, A3BN26, B4F8Z1, B4FTR7, B6TGN4, B6TTV8, B8AK78, B9EJ57, F4I933, F4IHL3, Q01IJ3, Q0DVX2, Q0JCU7, Q0WUF6, Q10CI8, Q10PZ4, Q49AM1, Q5N800, Q5QLS7, Q5R6G1, Q5R9U8, Q5VRY0, Q5XIE2, Q5ZJC8, Q60EH4, Q65XL5, Q67UU0, Q6ATB4, Q6AUK6, Q6EUK7, Q6K9C1, Q6P6Q6, Q6Y9P5, Q6YSY5, Q7X745, Q7XAP4, Q84QA7, Q84X53, Q8BKY8

Diamond homologs: B9EJ57, Q5R9U8, Q8CHZ9, Q99551, Q9EPI8, Q49AM1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	9
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

574 predictions. Top by Δscore:

Variant	Effect	Δscore
7:91874763:TG:T	acceptor_gain	0.9900
7:91874767:G:C	acceptor_gain	0.9900
7:91880500:A:C	donor_gain	0.9900
7:91880655:AC:A	donor_gain	0.9900
7:91880656:CC:C	donor_gain	0.9900
7:91880694:T:TA	donor_gain	0.9900
7:91874765:C:CC	acceptor_gain	0.9800
7:91874762:ATG:A	acceptor_gain	0.9700
7:91874767:G:GC	acceptor_gain	0.9700
7:91880645:T:A	donor_gain	0.9700
7:91874762:ATGCT:A	acceptor_gain	0.9600
7:91874764:GCTG:G	acceptor_loss	0.9600
7:91874764:GCTGT:G	acceptor_gain	0.9600
7:91874765:C:CG	acceptor_loss	0.9600
7:91876848:AT:A	donor_gain	0.9600
7:91880646:C:A	donor_gain	0.9600
7:91880695:C:A	donor_gain	0.9600
7:91874761:AATG:A	acceptor_gain	0.9500
7:91874765:CTGT:C	acceptor_gain	0.9500
7:91880503:CAAA:C	donor_gain	0.9500
7:91880504:AAAA:A	donor_gain	0.9500
7:91880664:TG:T	donor_gain	0.9500
7:91874760:AAATG:A	acceptor_gain	0.9400
7:91874763:TGCT:T	acceptor_gain	0.9400
7:91874682:T:TG	acceptor_gain	0.9300
7:91874766:T:A	acceptor_gain	0.9200
7:91880650:ATCT:A	donor_loss	0.9200
7:91880652:CTCA:C	donor_loss	0.9200
7:91880655:A:AT	donor_loss	0.9200
7:91880656:C:CG	donor_loss	0.9200

AlphaMissense

2640 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:91874358:A:G	W146R	0.985
7:91874358:A:T	W146R	0.985
7:91873709:C:G	R362P	0.974
7:91874367:A:G	W143R	0.973
7:91874367:A:T	W143R	0.973
7:91874462:A:G	L111P	0.973
7:91874293:A:C	F167L	0.969
7:91874293:A:T	F167L	0.969
7:91874295:A:G	F167L	0.969
7:91874309:C:G	R162P	0.969
7:91874050:G:C	S248R	0.968
7:91874050:G:T	S248R	0.968
7:91874052:T:G	S248R	0.968
7:91874183:A:G	F204S	0.968
7:91874182:G:C	F204L	0.965
7:91874182:G:T	F204L	0.965
7:91874184:A:G	F204L	0.965
7:91874290:A:C	F168L	0.963
7:91874290:A:T	F168L	0.963
7:91874292:A:G	F168L	0.963
7:91874307:A:G	S163P	0.961
7:91874365:C:A	W143C	0.960
7:91874365:C:G	W143C	0.960
7:91874519:C:G	R92P	0.960
7:91874303:G:T	P164H	0.957
7:91874288:C:G	R169P	0.956
7:91874408:G:T	P129Q	0.956
7:91874141:A:G	L218S	0.954
7:91874189:C:G	R202P	0.954
7:91874161:A:C	N211K	0.952

dbSNP variants (sampled 300 via entrez): RS1000064176 (7:91876291 G>A), RS1000459749 (7:91876591 G>A), RS1000622706 (7:91871733 C>G), RS1000647958 (7:91878969 C>T), RS1000672089 (7:91882327 C>G,T), RS1000712445 (7:91877587 C>A,T), RS1000969777 (7:91870925 C>A,G), RS1001315531 (7:91871168 C>A,T), RS1001504339 (7:91870695 G>A), RS1001636861 (7:91870978 C>T), RS1001885112 (7:91877983 C>T), RS1001941160 (7:91880946 T>A), RS1002518779 (7:91878523 T>C), RS1003155354 (7:91879430 T>C), RS1003359558 (7:91880446 G>A,C)

Disease associations

OMIM: gene MIM:602318 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001762_628	Obesity-related traits	3.000000e-06
GCST006988_111	Blond vs. brown/black hair color	6.000000e-09
GCST006993_10	Hippocampal volume in Alzheimer’s disease dementia	2.000000e-07
GCST006997_2	Cerebrospinal fluid t-tau levels in mild cognitive impairment	5.000000e-06
GCST006998_4	Cerebrospinal fluid p-tau levels in mild cognitive impairment	3.000000e-07
GCST007096_222	Pulse pressure	2.000000e-09
GCST007099_184	Systolic blood pressure	4.000000e-06
GCST010083_166	Hemoglobin levels	3.000000e-08

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0003924	hair color
EFO:0005035	hippocampal volume
EFO:0004760	t-tau measurement
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Leflunomide	decreases expression	2
Arsenic	increases abundance, increases expression, affects cotreatment, decreases expression	2
Cyclosporine	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
abrine	decreases expression	1
jinfukang	decreases expression	1
MT19c compound	increases expression	1
Vehicle Emissions	increases expression, increases abundance	1
Cannabidiol	increases expression	1
Doxorubicin	decreases expression	1
Folic Acid	decreases expression	1
Formaldehyde	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Methyl Methanesulfonate	increases expression	1
Ribonucleotides	affects binding	1
Rotenone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin M1	decreases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	increases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2CV	HAP1 MTERF (-) 2	Cancer cell line	Male
CVCL_XQ67	HAP1 MTERF (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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