ATP5MC1

Summary

ATP5MC1 (ATP synthase membrane subunit c locus 1, HGNC:841) is a protein-coding gene on chromosome 17q21.32, encoding ATP synthase F(0) complex subunit C1, mitochondrial (P05496). Subunit c, 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: 15.9% of 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified.

Source: NCBI Gene 516 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 30 total
• Cancer dependency (DepMap): dependent in 15.9% of screened cell lines
• MANE Select transcript: NM_005175

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:841
Approved symbol	ATP5MC1
Name	ATP synthase membrane subunit c locus 1
Location	17q21.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000159199
Ensembl biotype	protein_coding
OMIM	603192
Entrez	516

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 19 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000355938, ENST00000393366, ENST00000502964, ENST00000503641, ENST00000504591, ENST00000506855, ENST00000513347, ENST00000513781, ENST00000514808, ENST00000515060, ENST00000873686, ENST00000873687, ENST00000873688, ENST00000873689, ENST00000938818, ENST00000938819, ENST00000938820, ENST00000938821, ENST00000938822, ENST00000938823, ENST00000938824, ENST00000938825, ENST00000938826

RefSeq mRNA: 2 — MANE Select: NM_005175 NM_001002027, NM_005175

CCDS: CCDS11539

Canonical transcript exons

ENST00000393366 — 5 exons

Exon	Start	End
ENSE00001426516	48893409	48893456
ENSE00001515040	48892787	48892910
ENSE00002495821	48894372	48894449
ENSE00003624071	48895655	48895871
ENSE00003784009	48895156	48895334

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 99.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.4399 / max 202.0036, expressed in 1806 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161470	14.5086	1785
161472	8.9075	1523
161469	0.5949	317
161471	0.4289	229

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.49	gold quality
mucosa of transverse colon	UBERON:0004991	99.45	gold quality
right atrium auricular region	UBERON:0006631	99.36	gold quality
rectum	UBERON:0001052	99.26	gold quality
heart left ventricle	UBERON:0002084	99.12	gold quality
cardiac ventricle	UBERON:0002082	99.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.07	gold quality
cardiac atrium	UBERON:0002081	99.00	gold quality
gastrocnemius	UBERON:0001388	98.99	gold quality
metanephros cortex	UBERON:0010533	98.86	gold quality
heart	UBERON:0000948	98.83	gold quality
transverse colon	UBERON:0001157	98.79	gold quality
body of stomach	UBERON:0001161	98.59	gold quality
right frontal lobe	UBERON:0002810	98.57	gold quality
prefrontal cortex	UBERON:0000451	98.53	gold quality
muscle of leg	UBERON:0001383	98.51	gold quality
right lobe of thyroid gland	UBERON:0001119	98.50	gold quality
islet of Langerhans	UBERON:0000006	98.36	gold quality
heart right ventricle	UBERON:0002080	98.36	gold quality
adenohypophysis	UBERON:0002196	98.32	gold quality
left lobe of thyroid gland	UBERON:0001120	98.31	gold quality
cingulate cortex	UBERON:0003027	98.28	gold quality
anterior cingulate cortex	UBERON:0009835	98.26	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.26	gold quality
right adrenal gland	UBERON:0001233	98.24	gold quality
nucleus accumbens	UBERON:0001882	98.23	gold quality
left adrenal gland	UBERON:0001234	98.19	gold quality
esophagus mucosa	UBERON:0002469	98.13	gold quality
lower esophagus	UBERON:0013473	98.13	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.13	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	138.87
E-GEOD-125970	yes	50.66
E-MTAB-9467	yes	30.95
E-MTAB-7316	yes	20.18
E-CURD-122	yes	19.22
E-MTAB-10042	yes	14.16
E-HCAD-10	yes	13.03
E-CURD-112	yes	10.12
E-MTAB-8271	yes	9.74
E-MTAB-10596	no	812.73
E-HCAD-13	no	3.15
E-HCAD-5	no	2.32
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting ATP5MC1, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-3925-5P	99.21	67.90	1466
HSA-MIR-4790-3P	96.63	67.08	806

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.9% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• Spacemaker, a secreted protein expressed only in the eyes of insects with open rhabdom systems, acts together with Prominin and the cell adhesion molecule Chaoptin to choreograph the partitioning of rhabdomeres into an open system. (PMID:17036004)
• N-linked glycosylation of Chp is essential for its stability and activity. (PMID:18588887)
• Glycosylphosphatidylinositol -mannosyltransferase 2 is required for the GPI-mediated membrane attachment of several Glycosylphosphatidylinositol -anchored proteins, including the photoreceptor-specific cell adhesion molecule, chaoptin (PMID:22575127)
• The subunit c isoforms are nonredundant, because they differ functionally by their targeting peptides, which, in addition to mediating mitochondrial protein import, play a yet undiscovered role in respiratory chain maintenance. (PMID:19889836)
• ATP5G1 turnover increases upon depletion of ZC3H14, double knockdown of ZC3H14 and the nonsense-mediated decay factor, UPF1, rescues ATP5G1 transcript levels. Furthermore, fractionation reveals an increase in the amount of ATP5G1 pre-mRNA that reaches the cytoplasm when ZC3H14 is depleted and that ZC3H14 binds to ATP5G1 pre-mRNA in the nucleus. (PMID:27563065)
• ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not involved in forming the permeability transition pore. (PMID:28289229)
• A naturally occurring mutation in ATP synthase subunit c is associated with increased damage following hypoxia/reoxygenation in STEMI patients. (PMID:33852870)

Cross-species orthologs

0 orthologs

Paralogs (2): ATP5MC2 (ENSG00000135390), ATP5MC3 (ENSG00000154518)

Protein

Protein identifiers

ATP synthase F(0) complex subunit C1, mitochondrial — P05496 (reviewed: P05496)

Alternative names: ATP synthase lipid-binding protein, ATP synthase membrane subunit c locus 1, ATP synthase proteolipid P1, ATP synthase proton-transporting mitochondrial F(0) complex subunit C1, ATPase protein 9, ATPase subunit c, Proton-conducting channel, ATP synthase F(0) complex subunit c

All UniProt accessions (6): D6R9H7, E7EPU7, E7EQ97, I3L0Y5, P05496, Q6FIH7

UniProt curated annotations — full annotation on UniProt →

Function. Subunit c, 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. With the subunit a (MT-ATP6), forms the proton-conducting channel in the F(0) domain, that contains two crucial half-channels (inlet and outlet) that facilitate proton movement from the mitochondrial intermembrane space (IMS) into the matrix. Protons are taken up via the inlet half-channel and released through the outlet half-channel, following a Grotthuss mechanism.

Subunit / interactions. Homooctamer; the c-ring consists of eight c subunits forming a circle, and each subunit adopts a hairpin shape. 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). Interacts with TMEM70 (homooligomer form); this interaction facilitates the oligomer formation of subunit c/ATP5MC1 (c-ring) and the c-ring membrane insertion and also protects ATP5MC1 against intramitochondrial proteolysis.

Subcellular location. Mitochondrion membrane.

Post-translational modifications. Trimethylated by ATPSCKMT at Lys-104. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.

Miscellaneous. There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).

Similarity. Belongs to the ATPase C chain family.

RefSeq proteins (2): NP_001002027, NP_005166* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000454	ATP_synth_F0_csu	Family
IPR002379	ATPase_proteolipid_c-like_dom	Domain
IPR020537	ATP_synth_F0_csu_DDCD_BS	Binding_site
IPR035921	F/V-ATP_Csub_sf	Homologous_superfamily
IPR038662	ATP_synth_F0_csu_sf	Homologous_superfamily

Pfam: PF00137

Catalyzed reactions (Rhea), 1 shown:

• H(+)(in) = H(+)(out) (RHEA:34979)

UniProt features (12 total): helix 5, transmembrane region 2, transit peptide 1, chain 1, site 1, modified residue 1, sequence conflict 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-P05496-F1	73.04	0.52

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 (1): 119 (reversibly protonated during proton transport)

Post-translational modifications (1): 104

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import
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
R-HSA-9609507	Protein localization

MSigDB gene sets: 278 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, RORA1_01, SP3_Q3, MORF_UBE2I, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_HDAC1, HSIAO_HOUSEKEEPING_GENES, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, CHX10_01, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, REACTOME_FORMATION_OF_ATP_BY_CHEMIOSMOTIC_COUPLING, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS

GO Biological Process (3): proton motive force-driven ATP synthesis (GO:0015986), proton transmembrane transport (GO:1902600), monoatomic ion transport (GO:0006811)

GO Molecular Function (4): lipid binding (GO:0008289), proton channel activity (GO:0015252), protein binding (GO:0005515), proton transmembrane transporter activity (GO:0015078)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), proton-transporting two-sector ATPase complex, proton-transporting domain (GO:0033177), proton-transporting ATP synthase complex (GO:0045259), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Protein localization	1
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
binding	2
proton-transporting two-sector ATPase complex	2
ATP biosynthetic process	1
monoatomic cation transmembrane transport	1
transport	1
monoatomic cation channel activity	1
proton transmembrane transporter activity	1
monoatomic cation transmembrane transporter activity	1
proton transmembrane transport	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
membrane protein complex	1
cation channel complex	1
respiratory chain complex	1
catalytic complex	1
cellular anatomical structure	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

2766 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5MC1	UQCRFS1	P47985	918
ATP5MC1	ATP5PB	P24539	909
ATP5MC1	ATP5F1A	P25705	838
ATP5MC1	ATP5F1C	P36542	758
ATP5MC1	CLCN3	P51790	732
ATP5MC1	ATP5F1D	P30049	693
ATP5MC1	COX5A	P20674	626
ATP5MC1	CLN3	Q13286	625
ATP5MC1	MAPT	P10636	611
ATP5MC1	ATP5PD	O75947	610
ATP5MC1	ATP5ME	P56385	606
ATP5MC1	NDUFS3	O75489	602
ATP5MC1	ATP5MG	O75964	588
ATP5MC1	ATP5MF	P56134	573
ATP5MC1	PPT1	P50897	573

IntAct

55 interactions, top by confidence:

A	B	Type	Score
TRIM69	ATP5MC1	psi-mi:“MI:0915”(physical association)	0.670
ATP5MC1	TRIM69	psi-mi:“MI:0915”(physical association)	0.670
POMK	LRP5	psi-mi:“MI:0914”(association)	0.640
BTN3A2	BTN3A1	psi-mi:“MI:0914”(association)	0.600
ACTN2	ATP5MC1	psi-mi:“MI:0915”(physical association)	0.560
ATP5MC1	TRIM69	psi-mi:“MI:0915”(physical association)	0.560
POMK	TMEM120B	psi-mi:“MI:0914”(association)	0.530
LRFN4	RIMOC1	psi-mi:“MI:0914”(association)	0.530
B4GALT3	SLC19A2	psi-mi:“MI:0914”(association)	0.530
BTN3A2	BTN3A3	psi-mi:“MI:0914”(association)	0.530
FUT3	C1QL1	psi-mi:“MI:0914”(association)	0.530
BRINP2	ATP5MC1	psi-mi:“MI:0914”(association)	0.530
B4GALT3	ATP5MC1	psi-mi:“MI:0914”(association)	0.530
	AGPS	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
TNFSF11	GOSR1	psi-mi:“MI:0914”(association)	0.350
STK32C	ILVBL	psi-mi:“MI:0914”(association)	0.350
PTH2R	METTL15	psi-mi:“MI:0914”(association)	0.350
GPR12	TLCD2	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
GRIN2A	ABCD4	psi-mi:“MI:0914”(association)	0.350

BioGRID (55): TRIM69 (Two-hybrid), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Two-hybrid), ATP5G1 (Two-hybrid), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), ATP5G1 (Affinity Capture-MS), BAG6 (Reconstituted Complex)

ESM2 similar proteins: A1XQS5, A6H666, A8XDX2, B0VYY5, B3DHU2, G5EDB8, O14046, P00842, P05496, P07926, P10175, P11432, P16000, P16221, P17605, P23968, P32876, P48201, P48772, P56383, P56384, Q01931, Q03672, Q06055, Q06056, Q06645, Q06646, Q0V9J0, Q0VCH8, Q2LCR3, Q2TA24, Q37315, Q3ZC75, Q53CG1, Q59550, Q5RAP9, Q5RFL2, Q5SWH9, Q71S46, Q7JX57

Diamond homologs: A1SHI6, A1XQS5, A3PN84, A4WNY7, A5CDC6, A6H4Q2, A8EX89, A8GLV9, A8GUJ2, A8XDX2, A9HDM8, A9RAH4, A9WGS9, B3CQT8, B8G6H1, B9LBM5, C0HK59, C3PM50, C4K0P2, O05331, O08310, P00840, P00842, P05496, P07926, P0C518, P0C519, P13547, P14571, P15014, P16000, P17254, P17605, P21537, P21905, P26855, P32876, P48201, P48880, P48881

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ATP5MC1	“form complex”	“ATP synthase”	binding

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	20
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

544 predictions. Top by Δscore:

Variant	Effect	Δscore
17:48895154:A:AG	acceptor_gain	1.0000
17:48895155:G:GG	acceptor_gain	1.0000
17:48892836:GGGAG:G	donor_gain	0.9900
17:48892837:GGAGG:G	donor_gain	0.9900
17:48892838:GAG:G	donor_gain	0.9900
17:48892839:AGG:A	donor_loss	0.9900
17:48892840:GGT:G	donor_loss	0.9900
17:48892841:G:C	donor_loss	0.9900
17:48892842:T:A	donor_loss	0.9900
17:48895153:TA:T	acceptor_loss	0.9900
17:48895155:GC:G	acceptor_gain	0.9900
17:48895155:GCC:G	acceptor_gain	0.9900
17:48895155:GCCT:G	acceptor_gain	0.9900
17:48895155:GCCTT:G	acceptor_gain	0.9900
17:48895335:GT:G	donor_loss	0.9900
17:48892837:GGAG:G	donor_gain	0.9800
17:48892838:GAGG:G	donor_gain	0.9800
17:48892841:G:GG	donor_gain	0.9800
17:48895336:T:A	donor_loss	0.9800
17:48892843:G:GT	donor_loss	0.9700
17:48893407:A:AG	acceptor_gain	0.9600
17:48893408:G:GG	acceptor_gain	0.9600
17:48895153:TAG:T	acceptor_gain	0.9500
17:48895330:GCCAG:G	donor_gain	0.9500
17:48895335:G:GG	donor_gain	0.9500
17:48894370:A:AG	acceptor_gain	0.9400
17:48894371:G:GG	acceptor_gain	0.9400
17:48895151:TCTAG:T	acceptor_gain	0.9400
17:48895152:CTA:C	acceptor_gain	0.9400
17:48895154:A:T	acceptor_gain	0.9400

AlphaMissense

877 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:48895277:C:A	A80D	1.000
17:48895298:G:A	G87E	1.000
17:48895701:T:C	F115L	1.000
17:48895703:T:A	F115L	1.000
17:48895703:T:G	F115L	1.000
17:48895238:C:A	A67D	0.999
17:48895256:G:A	G73E	0.999
17:48895262:C:A	A75D	0.999
17:48895270:G:C	G78R	0.999
17:48895271:G:A	G78D	0.999
17:48895280:G:A	G81D	0.999
17:48895285:G:T	G83W	0.999
17:48895286:G:A	G83E	0.999
17:48895289:C:A	A84D	0.999
17:48895292:G:A	G85D	0.999
17:48895306:T:C	F90L	0.999
17:48895308:T:A	F90L	0.999
17:48895308:T:G	F90L	0.999
17:48895310:G:A	G91D	0.999
17:48895325:G:A	G96D	0.999
17:48895334:G:T	R99M	0.999
17:48895690:C:A	A111D	0.999
17:48895698:G:C	G114R	0.999
17:48895699:G:A	G114D	0.999
17:48895705:C:A	A116D	0.999
17:48895715:G:C	E119D	0.999
17:48895715:G:T	E119D	0.999
17:48895722:G:A	G122R	0.999
17:48895722:G:C	G122R	0.999
17:48895237:G:C	A67P	0.998

dbSNP variants (sampled 300 via entrez): RS1000949019 (17:48894256 T>C), RS1001406504 (17:48890836 T>C), RS1002339370 (17:48894102 G>C,T), RS1002865420 (17:48893790 G>C,T), RS1003163232 (17:48891602 T>G), RS1003752842 (17:48892658 C>A,T), RS1004304210 (17:48893273 G>C), RS1004478485 (17:48891949 G>A), RS1004631583 (17:48894919 C>G,T), RS1004684116 (17:48895352 A>T), RS1005361628 (17:48892427 C>A,G,T), RS1006263680 (17:48891081 T>A,G), RS1006857183 (17:48891994 G>C), RS1007382713 (17:48891650 C>T), RS1007601670 (17:48892887 G>A)

Disease associations

OMIM: gene MIM:603192 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000998_5	Coronary heart disease	2.000000e-08
GCST002647_122	Height	2.000000e-16
GCST005414_22	Type 2 diabetes	3.000000e-08
GCST010242_317	HDL cholesterol levels	5.000000e-14
GCST010244_147	Triglyceride levels	1.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	6
sodium arsenite	affects expression, decreases expression, increases expression	3
cobaltous chloride	decreases expression	3
Acetaminophen	affects cotreatment, decreases expression, affects expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, decreases expression	2
Leflunomide	decreases expression	2
Doxorubicin	affects expression, increases expression	2
arsenite	affects binding, increases reaction	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases methylation	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation, decreases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Coumestrol	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Ethyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

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