ATP5MG

Summary

ATP5MG (ATP synthase membrane subunit g, HGNC:14247) is a protein-coding gene on chromosome 11q23.3, encoding ATP synthase F(0) complex subunit g, mitochondrial (O75964). Subunit g, 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: 17.8% 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10632 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 18 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 17.8% of screened cell lines
• MANE Select transcript: NM_006476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14247
Approved symbol	ATP5MG
Name	ATP synthase membrane subunit g
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	ATP5JG
Ensembl gene	ENSG00000167283
Ensembl biotype	protein_coding
OMIM	617473
Entrez	10632

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 10 protein_coding, 5 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000300688, ENST00000524422, ENST00000527186, ENST00000529460, ENST00000529770, ENST00000529790, ENST00000533172, ENST00000534385, ENST00000684822, ENST00000686391, ENST00000688882, ENST00000689460, ENST00000690793, ENST00000856737, ENST00000856738, ENST00000917010, ENST00000917011

RefSeq mRNA: 1 — MANE Select: NM_006476 NM_006476

CCDS: CCDS8397

Canonical transcript exons

ENST00000300688 — 3 exons

Exon	Start	End
ENSE00001111750	118409000	118409847
ENSE00001111752	118401606	118401717
ENSE00003595319	118406937	118407097

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.42.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 323.6719 / max 5282.1298, expressed in 1828 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116999	237.7272	1827
117000	83.3062	1827
116996	2.1867	1310
116997	0.4518	239

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	99.42	gold quality
cortical plate	UBERON:0005343	99.42	gold quality
cardiac ventricle	UBERON:0002082	99.39	gold quality
heart left ventricle	UBERON:0002084	99.39	gold quality
embryo	UBERON:0000922	99.38	gold quality
bone marrow cell	CL:0002092	99.37	gold quality
mucosa of transverse colon	UBERON:0004991	99.37	gold quality
right atrium auricular region	UBERON:0006631	99.37	gold quality
renal medulla	UBERON:0000362	99.35	gold quality
cardiac atrium	UBERON:0002081	99.34	gold quality
apex of heart	UBERON:0002098	99.33	gold quality
heart right ventricle	UBERON:0002080	99.28	gold quality
left ventricle myocardium	UBERON:0006566	99.28	gold quality
left adrenal gland	UBERON:0001234	99.27	gold quality
left adrenal gland cortex	UBERON:0035825	99.26	gold quality
right adrenal gland cortex	UBERON:0035827	99.26	gold quality
heart	UBERON:0000948	99.25	gold quality
right adrenal gland	UBERON:0001233	99.25	gold quality
adrenal cortex	UBERON:0001235	99.24	gold quality
body of tongue	UBERON:0011876	99.24	gold quality
adult organism	UBERON:0007023	99.23	gold quality
diaphragm	UBERON:0001103	99.22	gold quality
pigmented layer of retina	UBERON:0001782	99.21	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.21	gold quality
epithelium of nasopharynx	UBERON:0001951	99.20	gold quality
retina	UBERON:0000966	99.18	gold quality
nasopharynx	UBERON:0001728	99.18	gold quality
vena cava	UBERON:0004087	99.18	gold quality
trabecular bone tissue	UBERON:0002483	99.16	gold quality
adenohypophysis	UBERON:0002196	99.15	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	42.47
E-CURD-122	yes	22.79
E-MTAB-7316	yes	20.04
E-CURD-46	yes	19.52
E-MTAB-10042	yes	17.10
E-CURD-89	no	942.61
E-CURD-135	no	890.37
E-GEOD-81547	no	716.15
E-HCAD-1	no	18.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting ATP5MG, 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-3064-3P	100.00	70.09	1254
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 17.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Overexpression of miR-570-3p in platelets resulted in reduced levels of ATP5L mRNA and concomitant ATP loss. (PMID:27561077)
• this study demonstrates that F1Fo ATP synthase can support general mitochondrial and cellular functions, working in extremely efficient ’energy saving’ reverse mode and flexibly recruiting free radical detoxication and ATP producing / transporting pathways. (PMID:28189850)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp5l	ENSDARG00000011841
mus_musculus	Atp5mg	ENSMUSG00000038717
mus_musculus	Atg5lrt	ENSMUSG00000096486
rattus_norvegicus	Atp5mg	ENSRNOG00000028884
drosophila_melanogaster	ATPsynG	FBGN0010612
drosophila_melanogaster	ATPsynGL	FBGN0031941
caenorhabditis_elegans	asg-1	WBGENE00000209
caenorhabditis_elegans		WBGENE00000210

Paralogs (1): ATP5MGL (ENSG00000249222)

Protein

Protein identifiers

ATP synthase F(0) complex subunit g, mitochondrial — O75964 (reviewed: O75964)

Alternative names: ATP synthase membrane subunit g

All UniProt accessions (7): A0A3B3IRW3, A0A3B3ISE7, A0A8I5KSQ4, A0A8I5KSW3, A0A8I5KT86, E9PN17, O75964

UniProt curated annotations — full annotation on UniProt →

Function. Subunit g, 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.

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 ATPase g subunit family.

RefSeq proteins (1): NP_006467* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006808	ATP_synth_F0_gsu_mt	Family
IPR016702	ATP5MG_metazoa	Family

Pfam: PF04718

UniProt features (17 total): helix 5, modified residue 5, sequence conflict 3, initiator methionine 1, chain 1, turn 1, strand 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-O75964-F1	90.92	0.73

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 (5): 2, 11, 24, 35, 54

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: 227 (showing top): XU_GH1_AUTOCRINE_TARGETS_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, AAAYRNCTG_UNKNOWN, 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, ACCAATC_MIR509, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, GOBP_ATP_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): 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), proton-transporting ATP synthase complex (GO:0045259), sperm principal piece (GO:0097228), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

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
mitochondrion	2
proton motive force-driven ATP synthesis	2
cellular anatomical structure	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
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
proton-transporting two-sector ATPase complex	1
cation channel complex	1
respiratory chain complex	1
catalytic complex	1
sperm flagellum	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

2109 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5MG	ATP5PB	P24539	897
ATP5MG	ATP5MF	P56134	869
ATP5MG	ATP5ME	P56385	856
ATP5MG	ATP5PD	O75947	820
ATP5MG	ATP5PF	P18859	814
ATP5MG	ATP5F1C	P36542	757
ATP5MG	ATP5F1D	P30049	688
ATP5MG	ATP5F1E	P56381	665
ATP5MG	SDHA	P31040	662
ATP5MG	HSPA9	P30036	649
ATP5MG	ATP5F1A	P25705	638
ATP5MG	ATP5PO	P48047	636
ATP5MG	AFG3L2	Q9Y4W6	625
ATP5MG	LYRM4	Q9HD34	621
ATP5MG	ATAD3A	Q9NVI7	617

IntAct

140 interactions, top by confidence:

A	B	Type	Score
ATP5PB	ATP5PD	psi-mi:“MI:0915”(physical association)	0.760
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
ATP5F1B	ATP5PD	psi-mi:“MI:0914”(association)	0.670
ATP5PF	ATP5PD	psi-mi:“MI:0914”(association)	0.670
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
ATP5MG	LAMP2	psi-mi:“MI:0915”(physical association)	0.560
ATP5MG	SH3GLB1	psi-mi:“MI:0915”(physical association)	0.560
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
rep	ATP5MG	psi-mi:“MI:0914”(association)	0.530
ATP5F1D	NDUFB5	psi-mi:“MI:0914”(association)	0.530
ATP5ME	SLC19A2	psi-mi:“MI:0914”(association)	0.530
ATP5PF	SLC19A2	psi-mi:“MI:0914”(association)	0.530
ATP5F1B	SCAMP2	psi-mi:“MI:0914”(association)	0.530
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
SPRYD4	ATP5MG	psi-mi:“MI:0915”(physical association)	0.500
SPRYD4	ATP5MG	psi-mi:“MI:0914”(association)	0.500
	TK2	psi-mi:“MI:0915”(physical association)	0.400
MAGEC1	ATP5MG	psi-mi:“MI:0915”(physical association)	0.370
BLK	EEF1E1	psi-mi:“MI:0914”(association)	0.350

BioGRID (205): ATP5L (Affinity Capture-MS), ALDH3A2 (Co-fractionation), ATAD3A (Co-fractionation), ATP5A1 (Co-fractionation), ATP5C1 (Co-fractionation), ATP5D (Co-fractionation), ATP5F1 (Co-fractionation), ATP5H (Co-fractionation), ATP5I (Co-fractionation), ATP5L (Co-fractionation), ATP5L (Co-fractionation), ATP5L (Co-fractionation), ATP5L (Co-fractionation), ATP5L (Co-fractionation), ATP5O (Co-fractionation)

ESM2 similar proteins: A0A9P5BNK0, A2Y0H2, A5D9S8, A5DSD2, A7TMN2, A8WHP8, B5FVB8, C0HK61, C0HK63, C5DGX3, C5E381, E9F970, F4JNX2, O02161, O13813, O60084, O75964, O82246, O82803, O94373, O94578, O94724, P05626, P15252, P36139, P49334, P50087, P87216, P91928, Q00368, Q01852, Q04947, Q07335, Q10010, Q12233, Q1LUK1, Q21154, Q22505, Q28852, Q41112

Diamond homologs: O75964, P90921, Q18803, Q28852, Q5RFH0, Q6PDU7, Q7Z4Y8, Q9CPQ8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATP5MG	“form complex”	“ATP synthase”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 156 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	8	45.7×	1e-09
Cristae formation	8	27.7×	6e-08
Mitochondrial biogenesis	9	15.1×	6e-07
Aerobic respiration and respiratory electron transport	12	10.6×	1e-07
Organelle biogenesis and maintenance	11	7.3×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
proton motive force-driven ATP synthesis	8	49.8×	8e-10
proton motive force-driven mitochondrial ATP synthesis	11	22.4×	8e-10
amino acid transport	5	12.1×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

18 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

540 predictions. Top by Δscore:

Variant	Effect	Δscore
11:118407093:T:G	donor_gain	1.0000
11:118401714:AACG:A	donor_gain	0.9900
11:118401716:CGG:C	donor_loss	0.9900
11:118401718:G:GA	donor_loss	0.9900
11:118401719:T:A	donor_loss	0.9900
11:118401785:G:GT	donor_gain	0.9900
11:118407073:T:TA	donor_gain	0.9900
11:118407074:A:AA	donor_gain	0.9900
11:118401718:G:GG	donor_gain	0.9800
11:118401720:GAGC:G	donor_loss	0.9800
11:118406936:GCT:G	acceptor_gain	0.9800
11:118407093:TTAAG:T	donor_loss	0.9800
11:118407094:TAAGG:T	donor_loss	0.9800
11:118407096:AGGTA:A	donor_loss	0.9800
11:118407097:GGTAA:G	donor_loss	0.9800
11:118407098:G:GA	donor_loss	0.9800
11:118407099:T:A	donor_loss	0.9800
11:118408998:A:AG	acceptor_gain	0.9800
11:118408999:G:GG	acceptor_gain	0.9800
11:118408999:GGAA:G	acceptor_gain	0.9800
11:118408994:TTTCA:T	acceptor_loss	0.9700
11:118408995:TTCA:T	acceptor_loss	0.9700
11:118408996:TCA:T	acceptor_loss	0.9700
11:118408997:CAGG:C	acceptor_loss	0.9700
11:118408998:A:C	acceptor_loss	0.9700
11:118408999:G:GC	acceptor_loss	0.9700
11:118401579:G:GT	donor_gain	0.9600
11:118408999:GGA:G	acceptor_gain	0.9600
11:118402275:GA:G	donor_gain	0.9500
11:118408998:AG:A	acceptor_gain	0.9500

AlphaMissense

657 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:118409045:T:C	F87L	0.998
11:118409047:T:A	F87L	0.998
11:118409047:T:G	F87L	0.998
11:118406985:C:A	A34D	0.997
11:118409003:G:C	A73P	0.997
11:118409015:G:C	G77R	0.997
11:118409024:G:C	A80P	0.997
11:118409025:C:A	A80D	0.997
11:118409031:A:T	E82V	0.997
11:118409042:T:A	W86R	0.997
11:118409042:T:C	W86R	0.997
11:118409055:G:A	G90E	0.997
11:118406984:G:C	A34P	0.996
11:118406997:T:C	L38P	0.996
11:118409046:T:C	F87S	0.996
11:118409054:G:A	G90R	0.996
11:118409054:G:C	G90R	0.996
11:118409055:G:T	G90V	0.996
11:118409066:G:C	G94R	0.996
11:118409067:G:A	G94D	0.996
11:118409067:G:T	G94V	0.996
11:118409004:C:A	A73D	0.995
11:118409064:T:A	I93K	0.995
11:118406940:C:A	A19D	0.994
11:118409052:T:A	V89D	0.994
11:118409058:A:T	E91V	0.994
11:118407029:G:C	A49P	0.993
11:118407093:T:A	V70D	0.993
11:118409016:G:A	G77D	0.993
11:118409041:G:A	M85I	0.993

dbSNP variants (sampled 300 via entrez): RS1000696808 (11:118401075 G>A), RS1001185452 (11:118408510 A>G), RS1001672645 (11:118408192 G>C), RS1003402595 (11:118403240 A>C,G), RS1003455491 (11:118402890 G>A), RS1004240149 (11:118407376 A>G), RS1005214084 (11:118400517 A>G), RS1005457455 (11:118403666 G>A,C,T), RS1005883076 (11:118403270 C>G,T), RS1005906993 (11:118408773 T>G), RS1006883712 (11:118402106 C>A,T), RS1007310207 (11:118402140 G>A,C), RS1007377930 (11:118409600 T>C), RS1007471222 (11:118409298 G>A), RS1007712800 (11:118402367 T>C)

Disease associations

OMIM: gene MIM:617473 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90002383_44	Hematocrit	1.000000e-11
GCST90002384_298	Hemoglobin	3.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066998 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.67	Kd	213.9	nM	CHEMBL5653589
6.67	ED50	213.9	nM	CHEMBL5653589
5.58	Kd	2635	nM	CHEMBL3752910
5.58	ED50	2635	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 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	2147920: Binding affinity to human ATP5L incubated for 45 mins by Kinobead based pull down assay	kd	0.2139	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147920: Binding affinity to human ATP5L incubated for 45 mins by Kinobead based pull down assay	kd	2.6355	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects expression	2
sodium arsenite	decreases expression, increases abundance, increases expression	2
Acetaminophen	increases expression, affects cotreatment, decreases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	affects cotreatment, decreases expression, increases abundance	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
titanium dioxide	decreases expression	1
O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate	affects expression, affects response to substance	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	increases expression	1
gossypol acetic acid	decreases expression	1
butylparaben	increases expression	1
artenimol	affects binding	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
phenethyl isothiocyanate	affects binding	1
CGP 52608	affects binding, increases reaction	1
CD 437	decreases expression	1
chloropicrin	increases expression	1
MK2i peptide	affects cotreatment, decreases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	increases expression	1
Gasoline	affects cotreatment, 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
CHEMBL5650962	Binding	Binding affinity to human ATP5L 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

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_XL74	HAP1 ATP5L (-) 1	Cancer cell line	Male
CVCL_XL75	HAP1 ATP5L (-) 2	Cancer cell line	Male
CVCL_XL76	HAP1 ATP5L (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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