ATP5MGL

Summary

ATP5MGL (ATP synthase membrane subunit g like, HGNC:13213) is a protein-coding gene on chromosome 22q13.2, encoding ATP synthase subunit g 2, mitochondrial (Q7Z4Y8). Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) 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.

Predicted to enable proton transmembrane transporter activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion.

Source: NCBI Gene 267020 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_001165877

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13213
Approved symbol	ATP5MGL
Name	ATP synthase membrane subunit g like
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ222E13.5
Ensembl gene	ENSG00000249222
Ensembl biotype	protein_coding
Entrez	267020

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000505920

RefSeq mRNA: 1 — MANE Select: NM_001165877 NM_001165877

CCDS: CCDS54534

Canonical transcript exons

ENST00000505920 — 1 exons

Exon	Start	End
ENSE00002047551	42639803	42640601

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 79.44.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.44	silver quality
adrenal tissue	UBERON:0018303	54.24	gold quality
bone marrow cell	CL:0002092	53.85	gold quality
colonic epithelium	UBERON:0000397	46.21	gold quality
calcaneal tendon	UBERON:0003701	44.90	silver quality
skeletal muscle tissue	UBERON:0001134	43.67	silver quality
monocyte	CL:0000576	42.74	silver quality
leukocyte	CL:0000738	42.01	silver quality
muscle tissue	UBERON:0002385	41.32	gold quality
ventricular zone	UBERON:0003053	40.90	gold quality
stromal cell of endometrium	CL:0002255	40.62	silver quality
tonsil	UBERON:0002372	40.36	gold quality
ganglionic eminence	UBERON:0004023	39.79	gold quality
corpus callosum	UBERON:0002336	39.15	silver quality
granulocyte	CL:0000094	38.91	gold quality
liver	UBERON:0002107	37.95	silver quality
apex of heart	UBERON:0002098	37.49	silver quality
kidney	UBERON:0002113	36.53	silver quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.39	silver quality
endometrium	UBERON:0001295	36.05	gold quality
heart left ventricle	UBERON:0002084	35.37	silver quality
urinary bladder	UBERON:0001255	35.19	silver quality
adult mammalian kidney	UBERON:0000082	35.16	silver quality
adrenal gland	UBERON:0002369	34.47	silver quality
heart	UBERON:0000948	33.60	silver quality
zone of skin	UBERON:0000014	33.44	silver quality
right atrium auricular region	UBERON:0006631	31.74	silver quality
right adrenal gland cortex	UBERON:0035827	31.29	silver quality
right coronary artery	UBERON:0001625	30.97	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	15.73
E-MTAB-6379	no	2.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

10 targeting ATP5MGL, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-1228-3P	99.00	66.53	857
HSA-MIR-4274	98.59	66.10	630
HSA-MIR-4780	98.57	64.75	611
HSA-MIR-1245B-3P	98.01	68.91	1387

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): ATP5MG (ENSG00000167283)

Protein

Protein identifiers

ATP synthase subunit g 2, mitochondrial — Q7Z4Y8 (reviewed: Q7Z4Y8)

Alternative names: ATP synthase membrane subunit g-like protein

All UniProt accessions (1): Q7Z4Y8

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) 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. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a 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. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane.

Subunit / interactions. F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(0) seems to have nine subunits: a, b, c, d, e, f, g, F6 and 8 (or A6L).

Subcellular location. Mitochondrion membrane.

Similarity. Belongs to the ATPase g subunit family.

RefSeq proteins (1): NP_001159349* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006808	ATP_synth_F0_gsu_mt	Family
IPR016702	ATP5MG_metazoa	Family

Pfam: PF04718

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z4Y8-F1	81.98	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 49 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_ORGANELLE_INNER_MEMBRANE

GO Biological Process (4): proton motive force-driven ATP synthesis (GO:0015986), ATP biosynthetic process (GO:0006754), monoatomic ion transport (GO:0006811), proton transmembrane transport (GO:1902600)

GO Molecular Function (2): proton transmembrane transporter activity (GO:0015078), 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)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
ATP biosynthetic process	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
proton channel activity	1
proton motive force-driven ATP synthesis	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
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

920 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5MGL	RIMBP3B	A6NNM3	540
ATP5MGL	SLC35E4	Q6ICL7	507
ATP5MGL	ATP5PB	P24539	474
ATP5MGL	TMEM121B	Q9BXQ6	449
ATP5MGL	RIMBP3C	A6NJZ7	448
ATP5MGL	POTEH	Q6S545	434
ATP5MGL	DDTL	A6NHG4	433
ATP5MGL	ATP5PF	P18859	418
ATP5MGL	NDUFS6	O75380	386
ATP5MGL	UQCRC1	P31930	378
ATP5MGL	RIMBP3	Q9UFD9	371
ATP5MGL	SNRPN	P14648	353
ATP5MGL	RASEF	Q8IZ41	351
ATP5MGL	UBE3A	P78355	350
ATP5MGL	ATP6V1G2	O95670	349

IntAct

2 interactions, top by confidence:

A	B	Type	Score
ATP5MGL	GTPBP10	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): GTPBP10 (Affinity Capture-MS), GATB (Affinity Capture-MS), GFM2 (Affinity Capture-MS), ATP5L2 (Affinity Capture-MS)

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

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

314 predictions. Top by Δscore:

Variant	Effect	Δscore
22:42640415:A:AC	donor_gain	0.8700
22:42640411:CT:C	donor_gain	0.8400
22:42640491:G:A	donor_gain	0.8200
22:42640411:CTCTA:C	donor_gain	0.8100
22:42640412:TCTAT:T	donor_gain	0.8100
22:42640413:CTATC:C	donor_gain	0.8100
22:42640530:C:CT	donor_gain	0.8100
22:42640410:A:AC	donor_gain	0.7900
22:42640411:C:CC	donor_gain	0.7900
22:42640487:T:TA	donor_gain	0.7600
22:42640529:C:CT	donor_gain	0.7600
22:42640248:C:CT	acceptor_gain	0.7500
22:42640454:CTG:C	donor_gain	0.7500
22:42640455:TGT:T	donor_gain	0.7500
22:42640456:GTG:G	donor_gain	0.7500
22:42640453:A:AC	donor_gain	0.7300
22:42640454:C:CC	donor_gain	0.7300
22:42640553:A:AC	donor_gain	0.7300
22:42640554:C:CC	donor_gain	0.7300
22:42640457:TG:T	donor_gain	0.7200
22:42640414:TAT:T	donor_gain	0.7100
22:42640104:G:T	donor_gain	0.6900
22:42640393:A:AC	donor_gain	0.6900
22:42640496:AG:A	donor_gain	0.6900
22:42640462:T:TA	donor_gain	0.6800
22:42640528:A:AC	donor_gain	0.6600
22:42640178:A:AC	donor_gain	0.6500
22:42640509:G:C	donor_gain	0.6400
22:42640406:T:TA	donor_gain	0.6300
22:42640458:G:T	donor_gain	0.6100

AlphaMissense

633 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:42640080:G:C	F65L	0.646
22:42640080:G:T	F65L	0.646
22:42640082:A:G	F65L	0.646
22:42640014:A:C	F87L	0.625
22:42640014:A:T	F87L	0.625
22:42640016:A:G	F87L	0.625

dbSNP variants (sampled 300 via entrez): RS1000720378 (22:42640095 A>G), RS1000773019 (22:42640348 C>A,T), RS1002394110 (22:42640694 A>C,G), RS1002486667 (22:42642252 C>T), RS1003921263 (22:42642017 T>C), RS1004839705 (22:42642135 A>G), RS1005517678 (22:42639570 G>C), RS1006842282 (22:42639589 C>A,T), RS1007096168 (22:42639948 T>C), RS1007389554 (22:42640320 T>C), RS1008346224 (22:42641508 TG>T), RS1008363120 (22:42641174 A>T), RS1010000483 (22:42641775 A>C,G), RS1010202730 (22:42641461 C>T), RS1011713560 (22:42642310 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

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

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases methylation	2
potassium chromate(VI)	increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
Sunitinib	increases expression	1
Smoke	decreases expression	1
Urethane	increases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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