ATP5F1E

Summary

ATP5F1E (ATP synthase F1 subunit epsilon, HGNC:838) is a protein-coding gene on chromosome 20q13.32, encoding ATP synthase F(1) complex subunit epsilon, mitochondrial (P56381). Subunit epsilon, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. It is a common-essential gene (DepMap: required in 92.2% of cancer cell lines).

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.

Source: NCBI Gene 514 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 37 total — 2 pathogenic
• Phenotypes (HPO): 43
• Cancer dependency (DepMap): dependent in 92.2% of screened cell lines (common-essential)
• MANE Select transcript: NM_006886

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:838
Approved symbol	ATP5F1E
Name	ATP synthase F1 subunit epsilon
Location	20q13.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000124172
Ensembl biotype	protein_coding
OMIM	606153
Entrez	514

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000243997, ENST00000395659, ENST00000395663, ENST00000930425

RefSeq mRNA: 1 — MANE Select: NM_006886 NM_006886

CCDS: CCDS13476

Canonical transcript exons

ENST00000243997 — 3 exons

Exon	Start	End
ENSE00000845868	59030303	59030429
ENSE00001029836	59025475	59028841
ENSE00001029838	59032220	59032335

Expression profiles

Bgee: expression breadth ubiquitous, 296 present calls, max score 99.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 524.5762 / max 3796.5342, expressed in 1828 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188205	524.5762	1828

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
renal medulla	UBERON:0000362	99.80	gold quality
cranial nerve II	UBERON:0000941	99.79	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.74	gold quality
trabecular bone tissue	UBERON:0002483	99.72	gold quality
pylorus	UBERON:0001166	99.71	gold quality
substantia nigra pars compacta	UBERON:0001965	99.71	gold quality
superior surface of tongue	UBERON:0007371	99.71	gold quality
skin of hip	UBERON:0001554	99.68	gold quality
lateral globus pallidus	UBERON:0002476	99.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.68	gold quality
cardia of stomach	UBERON:0001162	99.66	gold quality
vena cava	UBERON:0004087	99.66	gold quality
pons	UBERON:0000988	99.64	gold quality
tongue	UBERON:0001723	99.64	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.63	gold quality
superior vestibular nucleus	UBERON:0007227	99.63	gold quality
saphenous vein	UBERON:0007318	99.62	gold quality
body of tongue	UBERON:0011876	99.60	gold quality
pharyngeal mucosa	UBERON:0000355	99.59	gold quality
ventral tegmental area	UBERON:0002691	99.59	gold quality
inferior vagus X ganglion	UBERON:0005363	99.59	gold quality
pigmented layer of retina	UBERON:0001782	99.56	gold quality
heart right ventricle	UBERON:0002080	99.55	gold quality
trachea	UBERON:0003126	99.55	gold quality
dorsal plus ventral thalamus	UBERON:0001897	99.54	gold quality
jejunum	UBERON:0002115	99.54	gold quality
oral cavity	UBERON:0000167	99.53	gold quality
retina	UBERON:0000966	99.53	gold quality
seminal vesicle	UBERON:0000998	99.53	gold quality
trigeminal ganglion	UBERON:0001675	99.53	gold quality

Single-cell (SCXA)

Detected in 33 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-HCAD-11	yes	3649.52
E-GEOD-81547	yes	1011.81
E-HCAD-4	yes	240.69
E-HCAD-1	yes	104.62
E-CURD-122	yes	75.52
E-MTAB-6701	yes	75.09
E-GEOD-135922	yes	53.80
E-MTAB-8410	yes	50.77
E-MTAB-9467	yes	35.04
E-CURD-46	yes	31.22
E-MTAB-5061	yes	25.69
E-GEOD-130148	yes	20.83
E-CURD-88	yes	19.06
E-MTAB-10042	yes	12.81
E-MTAB-7316	yes	10.66

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 92.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• Galectin 3 co-localized with ATP synthase in the inner membrane of mitochondria and had an inhibitory effect on ATP synthase in human colon cancer cells. (PMID:19016746)
• the epsilon subunit is essential for the assembly of F1 and plays an important role in the incorporation of the hydrophobic subunit c into the F1-c oligomer rotor of the mitochondrial ATP synthase complex (PMID:20026007)
• The cell surface F1/F0 ATP synthase complex plays a key role in the acidic microenvironment of tumor tissues. (PMID:24067918)
• ATP5E transcript alteration (down-expression) was highly associated to PTC diagnosis (PMID:26079849)
• Hsa_circ_0079480 enhances cell proliferation, migration, and invasion in colorectal cancer through miR-498/ATP5E axis. (PMID:36625260)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Atp5f1e	ENSMUSG00000016252
rattus_norvegicus	LOC100361879	ENSRNOG00000045749
rattus_norvegicus	Atp5f1e	ENSRNOG00000049912

Protein

Protein identifiers

ATP synthase F(1) complex subunit epsilon, mitochondrial — P56381 (reviewed: P56381)

Alternative names: ATP synthase F1 subunit epsilon

All UniProt accessions (1): P56381

UniProt curated annotations — full annotation on UniProt →

Function. Subunit epsilon, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro. May be essential for the assembly of F(1) and may play an important role in the incorporation of the hydrophobic subunit c into the F(1)-c oligomer rotor of the mitochondrial ATP synthase complex.

Subunit / interactions. Component of the ATP synthase complex composed at least of ATP5F1A/subunit alpha, ATP5F1B/subunit beta, ATP5MC1/subunit c (homooctamer), MT-ATP6/subunit a, MT-ATP8/subunit 8, ATP5ME/subunit e, ATP5MF/subunit f, ATP5MG/subunit g, ATP5MK/subunit k, ATP5MJ/subunit j, ATP5F1C/subunit gamma, ATP5F1D/subunit delta, ATP5F1E/subunit epsilon, ATP5PF/subunit F6, ATP5PB/subunit b, ATP5PD/subunit d, ATP5PO/subunit OSCP. ATP synthase complex consists of a soluble F(1) head domain (subunits alpha(3) and beta(3)) - the catalytic core - and a membrane F(0) domain - the membrane proton channel (subunits c, a, 8, e, f, g, k and j). These two domains are linked by a central stalk (subunits gamma, delta, and epsilon) rotating inside the F1 region and a stationary peripheral stalk (subunits F6, b, d, and OSCP).

Subcellular location. Mitochondrion. Mitochondrion inner membrane.

Tissue specificity. Ubiquitous.

Disease relevance. Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053] A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the eukaryotic ATPase epsilon family.

RefSeq proteins (1): NP_008817* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006721	ATP_synth_F1_esu_mt	Family
IPR036742	ATP_synth_F1_esu_sf_mt	Homologous_superfamily

Pfam: PF04627

UniProt features (13 total): modified residue 7, helix 3, chain 1, strand 1, sequence variant 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
8H9S	ELECTRON MICROSCOPY	2.53
8H9U	ELECTRON MICROSCOPY	2.61
8H9F	ELECTRON MICROSCOPY	2.69
8H9T	ELECTRON MICROSCOPY	2.77
8KI3	ELECTRON MICROSCOPY	2.89
8H9M	ELECTRON MICROSCOPY	3
8H9V	ELECTRON MICROSCOPY	3.02
8KHF	ELECTRON MICROSCOPY	3.13
8H9J	ELECTRON MICROSCOPY	3.26
8H9Q	ELECTRON MICROSCOPY	3.47

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56381-F1	86.29	0.55

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 (7): 21, 21, 32, 32, 37, 37, 44

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-163210	Formation of ATP by chemiosmotic coupling
R-HSA-8949613	Cristae formation
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-1592230	Mitochondrial biogenesis
R-HSA-1852241	Organelle biogenesis and maintenance

MSigDB gene sets: 296 (showing top): HONMA_DOCETAXEL_RESISTANCE, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, REACTOME_FORMATION_OF_ATP_BY_CHEMIOSMOTIC_COUPLING, 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): proton motive force-driven ATP synthesis (GO:0015986), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), ATP biosynthetic process (GO:0006754), monoatomic ion transport (GO:0006811), proton transmembrane transport (GO:1902600)

GO Molecular Function (3): hydrolase activity (GO:0016787), proton-transporting ATP synthase activity, rotational mechanism (GO:0046933), protein binding (GO:0005515)

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), proton-transporting ATP synthase complex (GO:0045259), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Mitochondrial biogenesis	1
Metabolism	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	2
proton motive force-driven ATP synthesis	2
ATP biosynthetic process	1
oxidative phosphorylation	1
purine ribonucleotide biosynthetic process	1
purine ribonucleoside triphosphate biosynthetic process	1
ATP metabolic process	1
transport	1
monoatomic cation transmembrane transport	1
catalytic activity	1
proton channel activity	1
ligase activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
intracellular organelle lumen	1
proton-transporting two-sector ATPase complex	1
cation channel complex	1
respiratory chain complex	1
catalytic complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1608 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5F1E	ATP5F1A	P25705	974
ATP5F1E	ATP5F1D	P30049	969
ATP5F1E	ATP5F1B	P06576	956
ATP5F1E	ATP5F1C	P36542	939
ATP5F1E	CTSZ	Q9UBR2	822
ATP5F1E	ATP5PO	P48047	796
ATP5F1E	TUBB1	Q9H4B7	795
ATP5F1E	ATP5PD	O75947	793
ATP5F1E	ATP5PB	P24539	782
ATP5F1E	ATP5ME	P56385	774
ATP5F1E	ATP5MC3	P48201	726
ATP5F1E	ATP5IF1	Q9UII2	698
ATP5F1E	TUBB	P05218	691
ATP5F1E	ATPAF2	Q8N5M1	673
ATP5F1E	ATP5MG	O75964	665

IntAct

32 interactions, top by confidence:

A	B	Type	Score
ATP5F1D	ATP5F1E	psi-mi:“MI:0915”(physical association)	0.740
ATP5F1E	AGTRAP	psi-mi:“MI:0915”(physical association)	0.560
ATP5F1D	NDUFB5	psi-mi:“MI:0914”(association)	0.530
ATP5F1C	ATP5F1E	psi-mi:“MI:0915”(physical association)	0.400
LIMK2	ATP5F1E	psi-mi:“MI:0915”(physical association)	0.400
CYP17A1	ATP5F1E	psi-mi:“MI:0915”(physical association)	0.370
BLK	EEF1E1	psi-mi:“MI:0914”(association)	0.350
Atp5f1a	ATP5PD	psi-mi:“MI:0914”(association)	0.350
P2RY6	ESYT2	psi-mi:“MI:0914”(association)	0.350
UNC93B1		psi-mi:“MI:0914”(association)	0.350
P2RY6		psi-mi:“MI:0914”(association)	0.350
P2RY6	RAVER1	psi-mi:“MI:0914”(association)	0.350
ATP5F1D		psi-mi:“MI:0914”(association)	0.350
CAV2	SURF4	psi-mi:“MI:0914”(association)	0.350
CAV2	CYB5B	psi-mi:“MI:0914”(association)	0.350
rep	GPR89A	psi-mi:“MI:0914”(association)	0.350
ULK1	HNRNPCL1	psi-mi:“MI:0914”(association)	0.350
POMK	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC19A2	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC35F1	C15orf61	psi-mi:“MI:0914”(association)	0.350
SLC35G1	FAM234B	psi-mi:“MI:0914”(association)	0.350
SLC5A9	RER1	psi-mi:“MI:0914”(association)	0.350
SLC36A1	ATP5PD	psi-mi:“MI:0914”(association)	0.350
SLC38A2	ATP5PD	psi-mi:“MI:0914”(association)	0.350
SLC38A1	XPOT	psi-mi:“MI:0914”(association)	0.350
AIFM1	NUDT19	psi-mi:“MI:2364”(proximity)	0.270
UBE2N	ATP5F1E	psi-mi:“MI:0915”(physical association)	0.000
ATP5F1E	AGTRAP	psi-mi:“MI:0915”(physical association)	0.000
ATP5F1D	ATP5F1E	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (102): ATP5E (Affinity Capture-MS), ATP5D (Co-fractionation), ATP5I (Co-fractionation), ATP5J (Co-fractionation), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS), ATP5E (Affinity Capture-MS)

ESM2 similar proteins: A0A1L1QK34, A0AJT1, A0Q119, A1AW62, A1VKF1, A1W4L3, A5CX12, A5D1C3, A5N7X7, A5UBD9, A5UFH3, A6TRX1, A7GRK0, A7Z4I9, A8FD34, B0URZ0, B3E4R5, B7H6K7, B7IUM9, B8DDS6, B8I2Z7, B9E1D8, B9MEK5, C0ZG01, C5CYY0, C5D8R2, O31883, P29418, P43740, P56381, P56618, P81026, P81188, Q044H2, Q0I5L9, Q12DV8, Q21TP6, Q3AC15, Q479A9, Q47YC9

Diamond homologs: A0A1L1QK34, P56381, P05632, P21306, P29418, P34539, P56382, Q06450, Q41898, Q5VTU8, Q75JK6, Q96253, Q9VXN2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	14
Likely benign	14
Benign	7

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
30551	NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)	Pathogenic
4082251	NC_000020.10:g.57331908_60789961del	Pathogenic

SpliceAI

525 predictions. Top by Δscore:

Variant	Effect	Δscore
20:59030296:AACTT:A	donor_loss	1.0000
20:59030297:A:C	donor_gain	1.0000
20:59030297:ACTTA:A	donor_loss	1.0000
20:59030298:CTT:C	donor_loss	1.0000
20:59030299:TTA:T	donor_loss	1.0000
20:59030300:TAC:T	donor_loss	1.0000
20:59030301:A:AC	donor_gain	1.0000
20:59030302:C:CT	donor_gain	1.0000
20:59030302:CA:C	donor_gain	1.0000
20:59030302:CAG:C	donor_gain	1.0000
20:59030302:CAGA:C	donor_gain	1.0000
20:59030310:T:TA	donor_gain	1.0000
20:59030320:CTT:C	donor_gain	1.0000
20:59030321:TTT:T	donor_gain	1.0000
20:59030322:TTC:T	donor_gain	1.0000
20:59030323:T:A	donor_gain	1.0000
20:59030425:TGTAG:T	acceptor_gain	1.0000
20:59030426:GTAG:G	acceptor_gain	1.0000
20:59030427:TAG:T	acceptor_gain	1.0000
20:59030428:AG:A	acceptor_gain	1.0000
20:59030429:GC:G	acceptor_loss	1.0000
20:59030430:C:CC	acceptor_gain	1.0000
20:59030431:T:A	acceptor_loss	1.0000
20:59032214:GCCTA:G	donor_loss	1.0000
20:59032215:CCTA:C	donor_loss	1.0000
20:59032216:CTA:C	donor_loss	1.0000
20:59032217:TA:T	donor_loss	1.0000
20:59032218:A:AT	donor_loss	1.0000
20:59030295:TAACT:T	donor_loss	0.9900
20:59030302:CAGAT:C	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000927276 (20:59028317 T>C), RS1001383045 (20:59028672 C>A), RS1001612928 (20:59031121 C>G,T), RS1001659701 (20:59027595 C>G,T), RS1001712282 (20:59027782 T>C), RS1001953849 (20:59032979 C>A,G), RS1001991832 (20:59026039 G>A,C), RS1002062027 (20:59031394 C>T), RS1002718245 (20:59029151 A>G), RS1002767477 (20:59028059 C>T), RS1002832718 (20:59032037 G>A,C), RS1003335040 (20:59032448 C>A,T), RS1003423601 (20:59032726 C>T), RS1003494376 (20:59034081 C>T), RS1005649559 (20:59026833 G>A)

Disease associations

OMIM: gene MIM:606153 | disease phenotypes: MIM:614053, MIM:612462

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex V (ATP synthase) deficiency, nuclear type 3	Strong	Autosomal recessive
mitochondrial proton-transporting ATP synthase complex deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
mitochondrial disease	Limited	AR

Mondo (3): mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (MONDO:0013547), pseudohypoparathyroidism type 1C (MONDO:0012911), mitochondrial proton-transporting ATP synthase complex deficiency (MONDO:0014471)

Orphanet (2): Isolated ATP synthase deficiency (Orphanet:254913), Pseudohypoparathyroidism type 1C (Orphanet:79444)

HPO phenotypes

43 total (30 of 43 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000089	Renal hypoplasia
HP:0000135	Hypogonadism
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000602	Ophthalmoplegia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000821	Hypothyroidism
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001298	Encephalopathy
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001987	Hyperammonemia
HP:0002098	Respiratory distress

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90002401_328	Platelet distribution width	9.000000e-173

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C548076	Pseudohypoparathyroidism Type 1C (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1059150	Efficacy	3	adalimumab;certolizumab pegol;etanercept;glucocorticoids;infliximab;methotrexate	Rheumatoid arthritis

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1059150	ATP5F1E	3	2.50	1	adalimumab;certolizumab pegol;etanercept;glucocorticoids;infliximab;methotrexate
rs10485828	ATP5F1E, TUBB1	3	0.00	1	anastrozole;exemestane
rs151337	ATP5F1E		0.00	0
rs151352	ATP5F1E, TUBB1		0.00	0

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — F-type ATPase

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, affects cotreatment, increases expression	5
bisphenol A	increases abundance, affects expression, decreases expression, increases expression, decreases reaction	4
Acetaminophen	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, increases expression	2
Rotenone	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
ginger extract	increases abundance, increases expression, decreases reaction	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
chloropicrin	affects expression	1
corosolic acid	decreases expression	1
K 7174	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
MT19c compound	decreases expression	1
bisphenol AF	increases expression	1
perfluoroundecanoic acid	affects expression, affects methylation	1
Sunitinib	decreases expression	1
Vorinostat	increases expression	1
Aspirin	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1KR	Abcam HeLa ATP5F1E KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03718403	PHASE4	RECRUITING	Effect of Theophylline in Pseudohypoparathyroidism