ATP5PF

Summary

ATP5PF (ATP synthase peripheral stalk subunit F6, HGNC:847) is a protein-coding gene on chromosome 21q21.3, encoding ATP synthase peripheral stalk subunit F6, mitochondrial (P18859). Subunit F6, 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 selective cancer dependency (DepMap: 29.6% of cell lines).

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes.

Source: NCBI Gene 522 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 30 total
• Cancer dependency (DepMap): dependent in 29.6% of screened cell lines
• MANE Select transcript: NM_001003703

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:847
Approved symbol	ATP5PF
Name	ATP synthase peripheral stalk subunit F6
Location	21q21.3
Locus type	gene with protein product
Status	Approved
Aliases	CF6
Ensembl gene	ENSG00000154723
Ensembl biotype	protein_coding
OMIM	603152
Entrez	522

Gene structure

Transcript identifiers

Ensembl transcripts: 43 — 42 protein_coding, 1 retained_intron

ENST00000284971, ENST00000400087, ENST00000400090, ENST00000400093, ENST00000400094, ENST00000400099, ENST00000457143, ENST00000486002, ENST00000904406, ENST00000904407, ENST00000904408, ENST00000904409, ENST00000904410, ENST00000904411, ENST00000904412, ENST00000904414, ENST00000904415, ENST00000904416, ENST00000904417, ENST00000904418, ENST00000904419, ENST00000904420, ENST00000904422, ENST00000904423, ENST00000904424, ENST00000904426, ENST00000924757, ENST00000924758, ENST00000924759, ENST00000924760, ENST00000924761, ENST00000924762, ENST00000924763, ENST00000924764, ENST00000924765, ENST00000924766, ENST00000924767, ENST00000924768, ENST00000924769, ENST00000924770, ENST00000924771, ENST00000956393, ENST00000956394

RefSeq mRNA: 7 — MANE Select: NM_001003703 NM_001003696, NM_001003697, NM_001003701, NM_001003703, NM_001320266, NM_001320267, NM_001685

CCDS: CCDS13574, CCDS46637

Canonical transcript exons

ENST00000284971 — 4 exons

Exon	Start	End
ENSE00001017309	25725226	25725350
ENSE00001541525	25734853	25734904
ENSE00003475470	25729631	25729801
ENSE00003913247	25724500	25724677

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 219.7539 / max 3922.2838, expressed in 1826 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
189944	181.4462	1826
189949	11.0082	1775
189946	10.0236	1645
189947	9.7839	1639
189945	6.3818	1627
189950	0.6668	416
189948	0.4036	207
209287	0.0398	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.89	gold quality
heart right ventricle	UBERON:0002080	99.88	gold quality
myocardium	UBERON:0002349	99.86	gold quality
choroid plexus epithelium	UBERON:0003911	99.86	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.85	gold quality
biceps brachii	UBERON:0001507	99.68	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.66	gold quality
cardiac ventricle	UBERON:0002082	99.65	gold quality
heart left ventricle	UBERON:0002084	99.64	gold quality
body of tongue	UBERON:0011876	99.63	gold quality
vena cava	UBERON:0004087	99.62	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.62	gold quality
vastus lateralis	UBERON:0001379	99.60	gold quality
renal medulla	UBERON:0000362	99.57	gold quality
diaphragm	UBERON:0001103	99.55	gold quality
cardiac atrium	UBERON:0002081	99.54	gold quality
quadriceps femoris	UBERON:0001377	99.52	gold quality
apex of heart	UBERON:0002098	99.52	gold quality
heart	UBERON:0000948	99.51	gold quality
jejunum	UBERON:0002115	99.51	gold quality
right atrium auricular region	UBERON:0006631	99.51	gold quality
adult organism	UBERON:0007023	99.50	gold quality
nephron tubule	UBERON:0001231	99.49	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.48	gold quality
colonic mucosa	UBERON:0000317	99.47	gold quality
tongue	UBERON:0001723	99.47	gold quality
jejunal mucosa	UBERON:0000399	99.46	gold quality
gingival epithelium	UBERON:0001949	99.46	gold quality
epithelium of nasopharynx	UBERON:0001951	99.44	gold quality
seminal vesicle	UBERON:0000998	99.42	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	48.07
E-HCAD-1	yes	41.70
E-MTAB-9467	yes	33.31
E-HCAD-10	yes	30.76
E-MTAB-8410	yes	13.08
E-MTAB-10042	yes	7.18
E-MTAB-3929	no	822.47
E-MTAB-6058	no	420.52
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting ATP5PF, 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-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-4666B	99.64	68.69	1282
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-3613-5P	98.40	68.91	604
HSA-MIR-4529-3P	96.40	66.46	582
HSA-MIR-5009-5P	94.82	63.89	775

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 29.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 14)

• CF6 is a novel risk factor for ischemic heart disease in end-stage renal disease. Synergism of this peptide and asymmetric dimethylarginine might contribute to its occurrence presumably by inhibition of prostacyclin and nitric oxide production. (PMID:14633154)
• Mutation analysis revealed the T9176C mutation in the mtATPase 6 gene (OMIM 516060) and the mutation load was above 90% in the patients with Leigh syndrome. (PMID:15709156)
• Plasma CF6 elevated in patients with acute myocardial infarction. At 3 days, plasma CF6 correlated positively with plasma creatinine kinase peak value and correlated negatively with left ventricular ejection fraction. (PMID:15785006)
• Membrane-bound ATP synthase functions as a receptor for CF6 and may have a previously unsuspected role in the genesis of hypertension by modulating the concentration of intracellular hydrogen. (PMID:16230521)
• T8993G allele causes severe extrapyramidal dysfunction and Leigh disease but there is no correlation between the degree of enzyme deficiency and the severity of the phenotype. (PMID:16532470)
• Increased CF6 may be responsible in part for decreased prostacyclin observed in coronary heart disease, in particular after PTCA and stent therapy. Potential risk factor for coronary heart disease. (PMID:17456993)
• in vascular endothelial cells both CF6 (coupling factor 6) and Angiotensin II downregulate PECAM-1 (platelet/endothelial cell adhesion molecule) expression via activation of c-Src kinase (PMID:18243211)
• Coupling factor 6 enhances Src-mediated responsiveness to angiotensin II in resistance arterioles and cells. (PMID:19106112)
• coupling factor 6 induces the development of systolic dysfunction and upregulation of nicotinamide adenine dinucleotide phosphate oxidase in the heart under the high-salt diet (PMID:20811295)
• The phenotypic range of retinal, peripheral and central nervous system disease expression is characterized in a single family with NARP syndrome from the ATPase 6 m.8993T>C mtDNA point mutation. (PMID:20953793)
• CF6 plays a crucial role in the development of insulin resistance and hypertension (PMID:22038518)
• Over-expression of the ATP5J gene correlates with cell migration and 5-fluorouracil sensitivity in colorectal cancer. (PMID:24124598)
• CF6-induced increase in apoptotic cells was blocked by immature or mature IF1, being accompanied by protein kinase B (PKB) phosphorylation. IF1 antagonizes the pro-apoptotic action of CF6 by relief of intracellular acidification and resultant phosphorylation of PKB. (PMID:26659871)
• AKT2 and XIST expression was identified as a potential biomarker participating in the effect of ATP5J in colorectal cancer (PMID:29484395)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp5pf	ENSDARG00000014313
danio_rerio	si:ch211-140m22.7	ENSDARG00000077967
danio_rerio	si:dkey-22n8.3	ENSDARG00000089853
mus_musculus	Atp5pf	ENSMUSG00000022890
rattus_norvegicus	Atp5pf	ENSRNOG00000001551
rattus_norvegicus		ENSRNOG00000066253
drosophila_melanogaster	ATPsynCF6	FBGN0016119
drosophila_melanogaster	ATPsynCF6L	FBGN0035585

Protein

Protein identifiers

ATP synthase peripheral stalk subunit F6, mitochondrial — P18859 (reviewed: P18859)

Alternative names: ATP synthase peripheral stalk subunit F6

All UniProt accessions (3): P18859, A8MUH2, Q6IB54

UniProt curated annotations — full annotation on UniProt →

Function. Subunit F6, 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. Part of the complex F(0) domain. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.

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.

Similarity. Belongs to the eukaryotic ATPase subunit F6 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P18859-1	1	yes
P18859-2	2

RefSeq proteins (7): NP_001003696, NP_001003697, NP_001003701, NP_001003703, NP_001307195, NP_001307196, NP_001676 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008387	ATP_synth_f6_mt	Family
IPR036204	ATP_synth_f6_sf_mt	Homologous_superfamily

Pfam: PF05511

UniProt features (17 total): modified residue 9, helix 2, transit peptide 1, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, strand 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
8H9S	ELECTRON MICROSCOPY	2.53
8H9U	ELECTRON MICROSCOPY	2.61
8H9T	ELECTRON MICROSCOPY	2.77
8KI3	ELECTRON MICROSCOPY	2.89
8H9G	ELECTRON MICROSCOPY	2.95
8H9V	ELECTRON MICROSCOPY	3.02
8H9K	ELECTRON MICROSCOPY	3.51
8H9N	ELECTRON MICROSCOPY	3.56
8H9R	ELECTRON MICROSCOPY	3.97

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P18859-F1	83.80	0.43

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 (9): 105, 41, 46, 65, 79, 94, 94, 99, 99

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-163210	Formation of ATP by chemiosmotic coupling
R-HSA-8949613	Cristae formation
R-HSA-9837999	Mitochondrial protein degradation
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
R-HSA-392499	Metabolism of proteins

MSigDB gene sets: 275 (showing top): MORF_SMC1L1, XU_GH1_AUTOCRINE_TARGETS_UP, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_RRM1, MORF_HDAC1, MORF_UBE2N, DITTMER_PTHLH_TARGETS_UP, MORF_RAD21, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, MORF_HDAC2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, REACTOME_FORMATION_OF_ATP_BY_CHEMIOSMOTIC_COUPLING

GO Biological Process (5): proton motive force-driven ATP synthesis (GO:0015986), substantia nigra development (GO:0021762), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), monoatomic ion transport (GO:0006811), proton transmembrane transport (GO:1902600)

GO Molecular Function (3): proton transmembrane transporter activity (GO:0015078), protein binding (GO:0005515), proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), centriole (GO:0005814), proton-transporting ATP synthase complex (GO:0045259), sperm end piece (GO:0097229), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
proton motive force-driven ATP synthesis	2
cellular anatomical structure	2
ATP biosynthetic process	1
midbrain development	1
neural nucleus development	1
mitochondrion	1
oxidative phosphorylation	1
transport	1
monoatomic cation transmembrane transport	1
monoatomic cation transmembrane transporter activity	1
proton transmembrane transport	1
binding	1
proton channel activity	1
ligase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
microtubule organizing center	1
intracellular membraneless organelle	1
proton-transporting two-sector ATPase complex	1
cation channel complex	1
respiratory chain complex	1
catalytic complex	1
sperm flagellum	1

Protein interactions and networks

STRING

2284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5PF	ATP5PB	P24539	886
ATP5PF	ATP5PD	O75947	874
ATP5PF	ATP5PO	P48047	850
ATP5PF	ATP5MG	O75964	814
ATP5PF	ATP5MF	P56134	810
ATP5PF	ATP5ME	P56385	809
ATP5PF	ATP5F1A	P25705	804
ATP5PF	ESR2	Q92731	803
ATP5PF	ATP5F1B	P06576	793
ATP5PF	ATP5F1C	P36542	767
ATP5PF	ATP5F1D	P30049	759
ATP5PF	ATP5MC3	P48201	720
ATP5PF	CXXC5	Q7LFL8	690
ATP5PF	MRPL39	Q9NYK5	620
ATP5PF	UQCR11	O14957	613

IntAct

180 interactions, top by confidence:

A	B	Type	Score
ATP5PB	ATP5PD	psi-mi:“MI:0915”(physical association)	0.760
ATP5PF	ATP5F1A	psi-mi:“MI:0915”(physical association)	0.740
ATP5IF1	ATP5F1B	psi-mi:“MI:0914”(association)	0.740
PRELID3B	TRIAP1	psi-mi:“MI:0914”(association)	0.710
ATP5PD	ATP5PF	psi-mi:“MI:0915”(physical association)	0.670
ATP5PF	ATP5PD	psi-mi:“MI:0914”(association)	0.670
ATP5PB	SLC19A2	psi-mi:“MI:0914”(association)	0.640
BCL2L2	ATP5PF	psi-mi:“MI:0915”(physical association)	0.560
MALL	ATP5PF	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	REEP6	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	PHOSPHO2	psi-mi:“MI:0915”(physical association)	0.560
ABHD16A	ATP5PF	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	MIEF1	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	PTPN9	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	PLP2	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	BCL2L2	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	MIEF2	psi-mi:“MI:0915”(physical association)	0.560
KCNK5	ATP5PF	psi-mi:“MI:0915”(physical association)	0.560
SFT2D2	ATP5PF	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	NDRG4	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	MALL	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	SIGLEC12	psi-mi:“MI:0915”(physical association)	0.560
ATP5PF	INPP5K	psi-mi:“MI:0915”(physical association)	0.560
MOSPD3	ATP5PF	psi-mi:“MI:0915”(physical association)	0.560
ATP5ME	SLC19A2	psi-mi:“MI:0914”(association)	0.530
ATP5PF	SLC19A2	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530

BioGRID (272): ATP5J (Affinity Capture-RNA), ATP5J (Affinity Capture-MS), ATP5I (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5J (Co-fractionation), ATP5O (Co-fractionation), FABP5 (Co-fractionation), GSTO1 (Co-fractionation), PRDX3 (Co-fractionation)

ESM2 similar proteins: A1C6F8, A1DH31, A1XQT2, A3KNL5, A3KP48, A8XZB0, F7BK26, O35143, O44441, O64823, O74523, O93980, P01096, P01097, P01098, P02721, P09940, P11950, P13618, P18859, P21571, P37209, P80971, P91928, P97450, Q03344, Q0CXX1, Q1LYB6, Q24407, Q29307, Q3T0E3, Q4X156, Q5BBH7, Q5FVV3, Q5I030, Q5R7J0, Q5RBY3, Q5RFJ9, Q5U509, Q63ZW2

Diamond homologs: P02721, P13618, P18859, P21571, P97450, Q24407, Q5RBY3, Q8SPH6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATP5PF	“form complex”	“ATP synthase”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 181 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
Formation of ATP by chemiosmotic coupling	5	28.3×	1e-04
Cristae formation	5	17.1×	9e-04
Amino acid transport across the plasma membrane	5	14.9×	2e-03
Mitochondrial protein import	8	13.3×	4e-05
Mitochondrial protein degradation	9	10.2×	4e-05
Aerobic respiration and respiratory electron transport	10	8.8×	4e-05
R-HSA-425393	6	7.7×	8e-03
SLC-mediated transmembrane transport	10	5.9×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
proton motive force-driven ATP synthesis	5	27.3×	3e-04
obsolete protein targeting to mitochondrion	5	19.8×	1e-03
proton motive force-driven mitochondrial ATP synthesis	9	16.1×	4e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

592 predictions. Top by Δscore:

Variant	Effect	Δscore
21:25725348:GTC:G	acceptor_gain	1.0000
21:25725348:GTCC:G	acceptor_loss	1.0000
21:25725349:TC:T	acceptor_gain	1.0000
21:25725349:TCC:T	acceptor_loss	1.0000
21:25725350:CC:C	acceptor_gain	1.0000
21:25725351:C:CC	acceptor_gain	1.0000
21:25725358:G:C	acceptor_gain	1.0000
21:25725358:G:GC	acceptor_gain	1.0000
21:25729629:A:AC	donor_gain	1.0000
21:25729629:ACTGT:A	donor_gain	1.0000
21:25729630:C:CG	donor_gain	1.0000
21:25729630:CT:C	donor_gain	1.0000
21:25729630:CTG:C	donor_gain	1.0000
21:25729630:CTGT:C	donor_gain	1.0000
21:25729630:CTGTC:C	donor_gain	1.0000
21:25729691:T:TA	donor_gain	1.0000
21:25729797:TGATT:T	acceptor_gain	1.0000
21:25729800:TT:T	acceptor_gain	1.0000
21:25729801:TC:T	acceptor_loss	1.0000
21:25729802:C:CC	acceptor_gain	1.0000
21:25729802:C:G	acceptor_loss	1.0000
21:25729805:T:TC	acceptor_gain	1.0000
21:25729808:C:CT	acceptor_gain	1.0000
21:25729809:A:T	acceptor_gain	1.0000
21:25725221:CGTA:C	donor_loss	0.9900
21:25725222:GTACC:G	donor_loss	0.9900
21:25725223:TA:T	donor_loss	0.9900
21:25725225:C:A	donor_loss	0.9900
21:25725346:ATGTC:A	acceptor_gain	0.9900
21:25725347:TGTC:T	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000273514 (21:25734541 A>T), RS1001226740 (21:25733666 C>G,T), RS1001294759 (21:25730124 C>T), RS1001346748 (21:25730396 A>G), RS1001407924 (21:25726937 A>G,T), RS1001858923 (21:25726600 C>A,T), RS1001951900 (21:25737482 T>C), RS1002281499 (21:25731572 T>C,G), RS1002637729 (21:25731889 A>T), RS1002646052 (21:25734514 C>A,G), RS1002974732 (21:25736119 G>A), RS1003250071 (21:25730579 C>G), RS1003351155 (21:25727148 T>C), RS1003979760 (21:25735169 A>C), RS1004030356 (21:25735023 G>A,C,T)

Disease associations

OMIM: gene MIM:603152 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008437_6	Alzheimer’s disease in hypertension-negative individuals	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — F-type ATPase

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, decreases methylation, increases methylation	4
sodium arsenite	decreases expression, increases abundance, increases expression	3
bisphenol A	affects cotreatment, decreases methylation, increases expression	2
Acetaminophen	affects cotreatment, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
beauvericin	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
ochratoxin A	increases expression	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
CD 437	decreases expression	1
enniatins	decreases expression, affects cotreatment	1
corosolic acid	decreases expression	1
3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid	decreases expression	1
15-deoxyprostaglandin J2	decreases expression, decreases secretion	1
Rosiglitazone	decreases reaction, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Troglitazone	decreases expression, decreases secretion	1
Arsenic	increases abundance, increases expression	1
Atrazine	decreases expression	1
Calcium Chloride	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Fluorouracil	increases expression	1
Gasoline	increases abundance, affects cotreatment, decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Isoniazid	increases expression	1
Ivermectin	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SE15	HAP1 ATP5J (-) 1	Cancer cell line	Male
CVCL_SE16	HAP1 ATP5J (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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