ATP5MJ

Summary

ATP5MJ (ATP synthase membrane subunit j, HGNC:1188) is a protein-coding gene on chromosome 14q32.33, encoding ATP synthase F(0) complex subunit j, mitochondrial (P56378). Subunit j, 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.

Predicted to be involved in proton motive force-driven ATP synthesis. Located in fibrillar center and mitochondrion.

Source: NCBI Gene 9556 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 20 total
• MANE Select transcript: NM_004894

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1188
Approved symbol	ATP5MJ
Name	ATP synthase membrane subunit j
Location	14q32.33
Locus type	gene with protein product
Status	Approved
Aliases	MP68, MLQ, 6.8PL
Ensembl gene	ENSG00000156411
Ensembl biotype	protein_coding
OMIM	604573
Entrez	9556

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 22 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000286953, ENST00000414262, ENST00000553430, ENST00000553449, ENST00000554089, ENST00000554287, ENST00000554528, ENST00000554713, ENST00000554880, ENST00000555030, ENST00000557040, ENST00000557260, ENST00000877409, ENST00000877410, ENST00000877411, ENST00000877412, ENST00000930650, ENST00000930651, ENST00000930652, ENST00000930653, ENST00000930654, ENST00000930655, ENST00000930656, ENST00000930657, ENST00000930658, ENST00000930659, ENST00000946721

RefSeq mRNA: 2 — MANE Select: NM_004894 NM_001127393, NM_004894

CCDS: CCDS45169, CCDS9986

Canonical transcript exons

ENST00000286953 — 4 exons

Exon	Start	End
ENSE00002503145	103912288	103912694
ENSE00003482928	103913961	103913984
ENSE00003758826	103915066	103915189
ENSE00003902860	103921470	103921529

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 157.3946 / max 1320.8165, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
145118	152.0576	1825
145119	5.3370	1721

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	99.76	gold quality
myocardium	UBERON:0002349	99.71	gold quality
endothelial cell	CL:0000115	99.65	gold quality
heart right ventricle	UBERON:0002080	99.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.61	gold quality
apex of heart	UBERON:0002098	99.48	gold quality
diaphragm	UBERON:0001103	99.45	gold quality
cardiac ventricle	UBERON:0002082	99.39	gold quality
heart left ventricle	UBERON:0002084	99.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.38	gold quality
nucleus accumbens	UBERON:0001882	99.32	gold quality
cardiac atrium	UBERON:0002081	99.32	gold quality
colonic mucosa	UBERON:0000317	99.29	gold quality
right atrium auricular region	UBERON:0006631	99.29	gold quality
medial globus pallidus	UBERON:0002477	99.28	gold quality
tongue squamous epithelium	UBERON:0006919	99.27	gold quality
triceps brachii	UBERON:0001509	99.25	gold quality
putamen	UBERON:0001874	99.25	gold quality
right frontal lobe	UBERON:0002810	99.25	gold quality
caudate nucleus	UBERON:0001873	99.24	gold quality
amygdala	UBERON:0001876	99.24	gold quality
vastus lateralis	UBERON:0001379	99.23	gold quality
biceps brachii	UBERON:0001507	99.23	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.23	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.23	gold quality
prefrontal cortex	UBERON:0000451	99.22	gold quality
heart	UBERON:0000948	99.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.22	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.21	gold quality
quadriceps femoris	UBERON:0001377	99.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	263.11
E-MTAB-9467	yes	27.77
E-MTAB-6701	yes	27.12
E-MTAB-10042	yes	12.52
E-MTAB-7316	yes	10.07
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting ATP5MJ, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-486-5P	99.51	70.39	707
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-6076	98.61	65.69	637
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-548AO-5P	98.55	69.57	1362
HSA-MIR-548AX	98.55	69.58	1362
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-33B-3P	97.92	67.39	529
HSA-MIR-519E-3P	97.92	68.25	508
HSA-MIR-1293	96.16	64.69	916
HSA-MIR-553	94.01	65.93	158

Literature-anchored findings (GeneRIF, showing 1)

• MLQ is a potential regulator of the mitochondrial ATP synthesis (PMID:24330338)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Atp5mj	ENSMUSG00000021290
rattus_norvegicus	Atp5mj-ps1	ENSRNOG00000066701
rattus_norvegicus	Atp5mpl	ENSRNOG00000068254
rattus_norvegicus	Atp5mpl	ENSRNOG00000070574

Protein

Protein identifiers

ATP synthase F(0) complex subunit j, mitochondrial — P56378 (reviewed: P56378)

Alternative names: 6.8 kDa mitochondrial proteolipid protein, ATP synthase membrane subunit 6.8PL

All UniProt accessions (3): P56378, A0A0A0MTQ5, G3V556

UniProt curated annotations — full annotation on UniProt →

Function. Subunit j, 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. Minor subunit required to maintain the ATP synthase population in the mitochondria.

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 membrane.

Similarity. Belongs to the small mitochondrial proteolipid family.

Isoforms (2)

UniProt ID	Names	Canonical?
P56378-1	1	yes
P56378-2	2

RefSeq proteins (2): NP_001120865, NP_004885* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012574	ATP5MJ	Family

Pfam: PF08039

UniProt features (8 total): helix 3, chain 1, transmembrane region 1, splice variant 1, sequence variant 1, turn 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-P56378-F1	86.22	0.41

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: 129 (showing top): MODULE_151, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, REACTOME_FORMATION_OF_ATP_BY_CHEMIOSMOTIC_COUPLING, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_ATP_BIOSYNTHETIC_PROCESS, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE

GO Biological Process (1): proton motive force-driven ATP synthesis (GO:0015986)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): fibrillar center (GO:0001650), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), proton-transporting ATP synthase complex (GO:0045259), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

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
cellular anatomical structure	2
ATP biosynthetic process	1
binding	1
nucleolus	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
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

994 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5MJ	ATP5MK	Q96IX5	867
ATP5MJ	CD38	P28907	650
ATP5MJ	MT-ATP8	P03928	577
ATP5MJ	CD34	P28906	493
ATP5MJ	KIAA2013	Q8IYS2	476
ATP5MJ	ATP5PO	P48047	448
ATP5MJ	RASSF2	P50749	442
ATP5MJ	HAPLN2	Q9GZV7	422
ATP5MJ	ATP5IF1	Q9UII2	418
ATP5MJ	TEX264	Q9Y6I9	391
ATP5MJ	C1QBP	Q07021	388
ATP5MJ	ZNF705A	Q6ZN79	371
ATP5MJ	TNPO2	O14787	364
ATP5MJ	PUF60	Q9UHX1	340
ATP5MJ	COX16	Q9P0S2	334
ATP5MJ	NHSL2	Q5HYW2	334

IntAct

20 interactions, top by confidence:

A	B	Type	Score
UNC93B1	GPR89A	psi-mi:“MI:0914”(association)	0.530
	AP3B1	psi-mi:“MI:0914”(association)	0.350
RAB5A	EIF3CL	psi-mi:“MI:0914”(association)	0.350
MAGEA8	METTL15	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
AQP3	RTL8C	psi-mi:“MI:0914”(association)	0.350
VIPR1	SLC33A1	psi-mi:“MI:0914”(association)	0.350
HTR1B	SCAMP2	psi-mi:“MI:0914”(association)	0.350
EDEM2	HIGD1C	psi-mi:“MI:0914”(association)	0.350
SLC19A2	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC1A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
SLC2A10	NRP1	psi-mi:“MI:0914”(association)	0.350
SLC35F2	EI24	psi-mi:“MI:0914”(association)	0.350
SLC38A5	NRP1	psi-mi:“MI:0914”(association)	0.350
SLC38A8	ILVBL	psi-mi:“MI:0914”(association)	0.350
ATF3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CASP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTNNA1	MYO1G	psi-mi:“MI:0914”(association)	0.350
FOS	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): C14orf2 (Affinity Capture-MS), C14orf2 (Affinity Capture-RNA), C14orf2 (Positive Genetic), MINOS1 (Positive Genetic), MRPS5 (Positive Genetic), NDUFB1 (Positive Genetic), RPL30 (Negative Genetic), SNAPC1 (Positive Genetic), UQCRB (Positive Genetic), C14orf2 (Two-hybrid), C14orf2 (Two-hybrid), C14orf2 (Two-hybrid), C14orf2 (Affinity Capture-MS), C14orf2 (Proximity Label-MS), C14orf2 (Affinity Capture-MS)

ESM2 similar proteins: A1XQS2, D3Z9R8, E2R4X3, E9PQ53, O14548, O60397, O82067, P14790, P34660, P46269, P46270, P56378, P56379, Q02827, Q1RMH3, Q29259, Q2KI08, Q3SZ13, Q3T061, Q3ZBI7, Q4V8S3, Q56JY4, Q5R987, Q5RDZ8, Q5XFV8, Q5ZML6, Q61387, Q63ZZ0, Q69YU5, Q78IK2, Q7SXI1, Q8BH51, Q8BTC1, Q8C1Q6, Q8N0X7, Q96B49, Q96I36, Q96IX5, Q96KF7, Q99KD6

Diamond homologs: D3Z9R8, P14790, P56378, P56379

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

563 predictions. Top by Δscore:

Variant	Effect	Δscore
14:103915061:CGTA:C	donor_loss	1.0000
14:103915062:GTA:G	donor_loss	1.0000
14:103915063:TAC:T	donor_loss	1.0000
14:103915064:A:AC	donor_gain	1.0000
14:103915065:C:CC	donor_gain	1.0000
14:103915065:CCAG:C	donor_gain	1.0000
14:103915186:GCAT:G	acceptor_gain	1.0000
14:103915187:CAT:C	acceptor_gain	1.0000
14:103915187:CATC:C	acceptor_gain	1.0000
14:103915189:TCT:T	acceptor_loss	1.0000
14:103915190:C:CC	acceptor_gain	1.0000
14:103915190:CTGA:C	acceptor_loss	1.0000
14:103915191:T:G	acceptor_loss	1.0000
14:103915196:A:AC	acceptor_gain	1.0000
14:103921465:CTCA:C	donor_loss	1.0000
14:103921466:TCACC:T	donor_loss	1.0000
14:103921468:ACCTT:A	donor_loss	1.0000
14:103921469:C:G	donor_loss	1.0000
14:103912698:T:C	acceptor_gain	0.9900
14:103912698:T:TC	acceptor_gain	0.9900
14:103915060:ACGT:A	donor_loss	0.9900
14:103915185:AGCAT:A	acceptor_gain	0.9900
14:103915188:AT:A	acceptor_gain	0.9900
14:103915196:A:C	acceptor_gain	0.9900
14:103915970:T:C	donor_gain	0.9900
14:103915978:T:C	donor_gain	0.9900
14:103921468:A:AC	donor_gain	0.9900
14:103921469:C:CC	donor_gain	0.9900
14:103912715:A:C	acceptor_gain	0.9800
14:103913981:TTAT:T	acceptor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000300711 (14:103918979 A>G,T), RS1000332545 (14:103912911 G>A,C,T), RS1000517685 (14:103919070 T>C), RS1000574277 (14:103918829 T>C,G), RS1001677731 (14:103918607 G>A), RS1001794070 (14:103918432 C>T), RS1002015014 (14:103919697 C>T), RS1002191564 (14:103917951 T>C), RS1002245392 (14:103917741 C>G), RS1002734830 (14:103917648 C>T), RS1002816395 (14:103922843 G>A), RS1003803196 (14:103913336 A>C), RS1003937592 (14:103922754 C>T), RS1004355201 (14:103917797 C>G,T), RS1004406230 (14:103923494 T>TCAAAAA)

Disease associations

OMIM: gene MIM:604573 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST004521_262	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST005951_9	Body mass index	4.000000e-09
GCST006803_15	Schizophrenia	3.000000e-14
GCST007326_12	Number of sexual partners	2.000000e-08
GCST008103_98	Bipolar disorder	2.000000e-06
GCST010546_29	Problematic alcohol use	1.000000e-09
GCST011702_4	Smoking cessation	2.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0009458	alcohol use disorder measurement
EFO:0004319	smoking cessation

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression, decreases reaction, increases abundance	4
sodium arsenite	affects expression, decreases expression, increases expression	3
Smoke	decreases expression, increases abundance	2
Cyclosporine	decreases expression	2
ginger extract	decreases reaction, increases abundance, increases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
K 7174	decreases expression	1
bisphenol AF	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	increases expression	1
Coal	increases abundance, decreases expression	1
Doxorubicin	increases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1
Hydrogen Peroxide	decreases expression	1
Methotrexate	decreases expression	1
Oils, Volatile	increases expression, decreases reaction, increases abundance	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, decreases expression, increases abundance	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Isotretinoin	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
1-Butanol	affects cotreatment, decreases expression, increases abundance	1
Particulate Matter	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SG04	HAP1 C14orf2 (-) 1	Cancer cell line	Male
CVCL_SG05	HAP1 C14orf2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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