ATP5MF
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Also known as ATP5JL
Summary
ATP5MF (ATP synthase membrane subunit f, HGNC:848) is a protein-coding gene on chromosome 7q22.1, encoding ATP synthase F(0) complex subunit f, mitochondrial (P56134). Subunit f, 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 common-essential gene (DepMap: required in 99.7% of cancer 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 catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene.
Source: NCBI Gene 9551 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 12 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_004889
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:848 |
| Approved symbol | ATP5MF |
| Name | ATP synthase membrane subunit f |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATP5JL |
| Ensembl gene | ENSG00000241468 |
| Ensembl biotype | protein_coding |
| OMIM | 619792 |
| Entrez | 9551 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 15 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000292475, ENST00000359832, ENST00000394186, ENST00000414062, ENST00000449683, ENST00000466753, ENST00000481899, ENST00000485011, ENST00000488775, ENST00000491560, ENST00000523680, ENST00000524321, ENST00000889604, ENST00000889605, ENST00000889606, ENST00000915553, ENST00000915554, ENST00000915555, ENST00000915556, ENST00000915557, ENST00000956684
RefSeq mRNA: 4 — MANE Select: NM_004889
NM_001003713, NM_001003714, NM_001039178, NM_004889
CCDS: CCDS34692, CCDS47653, CCDS47654, CCDS5665
Canonical transcript exons
ENST00000292475 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003462758 | 99459147 | 99459263 |
| ENSE00003663375 | 99460086 | 99460193 |
| ENSE00003903070 | 99458195 | 99458355 |
| ENSE00003904043 | 99466111 | 99466167 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.59.
FANTOM5 (CAGE): breadth broad, TPM avg 0.8358 / max 16.2662, expressed in 513 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 85107 | 206.6924 | 1828 |
| 85106 | 0.8358 | 513 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.59 | gold quality |
| right testis | UBERON:0004534 | 99.56 | gold quality |
| left testis | UBERON:0004533 | 99.55 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.54 | gold quality |
| endometrium epithelium | UBERON:0004811 | 99.51 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.50 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.50 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.47 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.46 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.45 | gold quality |
| metanephros cortex | UBERON:0010533 | 99.45 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.44 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.42 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.42 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.40 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 99.37 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 99.37 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 99.37 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 99.37 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.36 | gold quality |
| cortical plate | UBERON:0005343 | 99.36 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 99.35 | gold quality |
| rectum | UBERON:0001052 | 99.34 | gold quality |
| pituitary gland | UBERON:0000007 | 99.33 | gold quality |
| cingulate cortex | UBERON:0003027 | 99.33 | gold quality |
| ventricular zone | UBERON:0003053 | 99.33 | gold quality |
| heart | UBERON:0000948 | 99.32 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.31 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 99.31 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-89232 | yes | 2186.27 |
| E-HCAD-4 | yes | 142.21 |
| E-MTAB-8410 | yes | 46.58 |
| E-GEOD-84465 | yes | 26.51 |
| E-MTAB-7316 | yes | 7.66 |
| E-MTAB-10042 | yes | 7.43 |
| E-MTAB-10596 | no | 1347.82 |
| E-MTAB-7303 | no | 1216.04 |
| E-GEOD-70580 | no | 607.78 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting ATP5MF, 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-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-4326 | 98.97 | 67.63 | 962 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-342-5P | 97.25 | 64.10 | 817 |
| HSA-MIR-3201 | 97.16 | 65.42 | 1044 |
| HSA-MIR-4791 | 96.51 | 67.76 | 659 |
| HSA-MIR-891A-5P | 93.24 | 65.86 | 104 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- The new role of F1Fo ATP synthase in mitochondria-mediated neurodegeneration and neuroprotection. (PMID:32653453)
- The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells. (PMID:33929490)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Atp5mf | ENSMUSG00000038690 |
| drosophila_melanogaster | ATPsynF | FBGN0035032 |
| caenorhabditis_elegans | WBGENE00011273 |
Protein
Protein identifiers
ATP synthase F(0) complex subunit f, mitochondrial — P56134 (reviewed: P56134)
Alternative names: ATP synthase membrane subunit f
All UniProt accessions (3): P56134, C9JU26, E5RKA0
UniProt curated annotations — full annotation on UniProt →
Function. Subunit f, 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 F chain family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P56134-1 | 1 | yes |
| P56134-2 | 2 | |
| P56134-3 | 3 | |
| P56134-4 | 4 |
RefSeq proteins (4): NP_001003713, NP_001003714, NP_001034267, NP_004880* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019344 | F1F0-ATPsyn_F_prd | Family |
Pfam: PF10206
UniProt features (16 total): helix 5, modified residue 3, splice variant 2, initiator methionine 1, chain 1, strand 1, transmembrane region 1, sequence conflict 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-P56134-F1 | 75.31 | 0.09 |
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 (3): 2, 3, 22
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: 230 (showing top):
MORF_MBD4, MORF_RAB5A, RORA1_01, MODULE_151, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_RAD21, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, MORF_PSMC2, 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, PUJANA_CHEK2_PCC_NETWORK
GO Biological Process (5): proton motive force-driven ATP synthesis (GO:0015986), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), proton transmembrane transport (GO:1902600), ATP biosynthetic process (GO:0006754), monoatomic ion transport (GO:0006811)
GO Molecular Function (1): proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)
GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), nuclear membrane (GO:0031965), proton-transporting ATP synthase complex (GO:0045259), membrane (GO:0016020)
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 |
|---|---|
| proton motive force-driven ATP synthesis | 2 |
| ATP biosynthetic process | 1 |
| mitochondrion | 1 |
| oxidative phosphorylation | 1 |
| monoatomic cation transmembrane transport | 1 |
| purine ribonucleotide biosynthetic process | 1 |
| purine ribonucleoside triphosphate biosynthetic process | 1 |
| ATP metabolic process | 1 |
| transport | 1 |
| proton channel activity | 1 |
| ligase activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| proton-transporting two-sector ATPase complex | 1 |
| cation channel complex | 1 |
| respiratory chain complex | 1 |
| catalytic complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1798 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP5MF | ATP5PB | P24539 | 874 |
| ATP5MF | ATP5MG | O75964 | 869 |
| ATP5MF | ATP5ME | P56385 | 826 |
| ATP5MF | ATP5PD | O75947 | 810 |
| ATP5MF | ATP5PF | P18859 | 810 |
| ATP5MF | ATP5PO | P48047 | 756 |
| ATP5MF | ATP5F1A | P25705 | 744 |
| ATP5MF | ATP5F1C | P36542 | 710 |
| ATP5MF | ATP5F1E | P56381 | 645 |
| ATP5MF | ATP5F1D | P30049 | 641 |
| ATP5MF | NDUFA6 | P56556 | 626 |
| ATP5MF | ATP5MC1 | P05496 | 573 |
| ATP5MF | NDUFB7 | P17568 | 544 |
| ATP5MF | COX5B | P10606 | 541 |
| ATP5MF | ATP6V0E1 | O15342 | 539 |
IntAct
113 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| 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 |
| UNC93B1 | GPR89A | psi-mi:“MI:0914”(association) | 0.530 |
| BLK | EEF1E1 | psi-mi:“MI:0914”(association) | 0.350 |
| Ncstn | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ARMC6 | psi-mi:“MI:0914”(association) | 0.350 | |
| NAF1 | C1orf226 | psi-mi:“MI:0914”(association) | 0.350 |
| TUBA1C | TCP11L2 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| HA | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PB1 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NS1 | HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| M2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| MME | psi-mi:“MI:0914”(association) | 0.350 | |
| COX15 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| SOAT1 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| VDAC1 | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.350 |
| Prdm16 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (151): ATP5J2 (Affinity Capture-MS), ATP5J2 (Co-fractionation), ATP5J2 (Co-fractionation), ATP5J2 (Co-fractionation), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS), ATP5J2 (Affinity Capture-MS)
ESM2 similar proteins: A2VDV9, A5PJ82, A8MTT3, D3Z9R8, D3ZAF6, D4ACP2, E7EXZ6, G1QDE8, G1S9B8, O00483, P0DO44, P0DO45, P14790, P46269, P46270, P56134, P56135, P56378, P56379, P56392, P80497, Q01321, Q0MQ97, Q0MQ98, Q0MQ99, Q28851, Q28GF4, Q3SZ44, Q3YAJ5, Q4FZG9, Q4R542, Q5R6T5, Q5RCY6, Q5REX0, Q62425, Q6PBH5, Q78RX3, Q7YRK7, Q8BTC1, Q8BTE5
Diamond homologs: D3ZAF6, P56134, P56135, Q28851, Q5R6T5, Q95339, Q22021, Q9W141
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
12 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2038 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:99450367:GCACG:G | donor_gain | 1.0000 |
| 7:99450370:CGGT:C | donor_loss | 1.0000 |
| 7:99450373:T:G | donor_loss | 1.0000 |
| 7:99450793:GCA:G | donor_gain | 1.0000 |
| 7:99450796:G:GG | donor_gain | 1.0000 |
| 7:99452343:A:AG | acceptor_gain | 1.0000 |
| 7:99452344:T:G | acceptor_gain | 1.0000 |
| 7:99452351:T:A | acceptor_gain | 1.0000 |
| 7:99452352:G:A | acceptor_gain | 1.0000 |
| 7:99452358:T:A | acceptor_gain | 1.0000 |
| 7:99454136:GGT:G | donor_loss | 1.0000 |
| 7:99454137:GTG:G | donor_loss | 1.0000 |
| 7:99459145:A:AC | donor_gain | 1.0000 |
| 7:99459146:C:CC | donor_gain | 1.0000 |
| 7:99460085:CCT:C | donor_gain | 1.0000 |
| 7:99460191:GTA:G | acceptor_gain | 1.0000 |
| 7:99460192:TA:T | acceptor_gain | 1.0000 |
| 7:99460194:C:CC | acceptor_gain | 1.0000 |
| 7:99460200:C:CT | acceptor_gain | 1.0000 |
| 7:99450275:GGGGA:G | acceptor_gain | 0.9900 |
| 7:99450372:G:GG | donor_gain | 0.9900 |
| 7:99450792:TGCA:T | donor_gain | 0.9900 |
| 7:99450793:GCAG:G | donor_gain | 0.9900 |
| 7:99450794:CA:C | donor_gain | 0.9900 |
| 7:99452355:T:TA | acceptor_gain | 0.9900 |
| 7:99452471:G:GT | donor_gain | 0.9900 |
| 7:99453669:G:GG | donor_gain | 0.9900 |
| 7:99453964:A:AG | acceptor_gain | 0.9900 |
| 7:99453965:G:GG | acceptor_gain | 0.9900 |
| 7:99453965:GCAAA:G | acceptor_gain | 0.9900 |
AlphaMissense
610 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:99460140:A:G | W29R | 0.994 |
| 7:99460140:A:T | W29R | 0.994 |
| 7:99459189:A:G | C72R | 0.993 |
| 7:99460138:C:A | W29C | 0.989 |
| 7:99460138:C:G | W29C | 0.989 |
| 7:99459191:G:T | A71E | 0.986 |
| 7:99459252:A:C | Y51D | 0.986 |
| 7:99459209:C:T | G65E | 0.985 |
| 7:99458354:C:A | K86N | 0.984 |
| 7:99458354:C:G | K86N | 0.984 |
| 7:99460086:C:G | G47R | 0.984 |
| 7:99460148:A:G | L26P | 0.984 |
| 7:99459221:C:T | G61E | 0.983 |
| 7:99459222:C:G | G61R | 0.983 |
| 7:99459222:C:T | G61R | 0.983 |
| 7:99460139:C:G | W29S | 0.983 |
| 7:99459240:A:G | Y55H | 0.982 |
| 7:99458346:C:G | R89P | 0.981 |
| 7:99458332:G:C | H94D | 0.980 |
| 7:99460148:A:T | L26Q | 0.980 |
| 7:99459239:T:G | Y55S | 0.979 |
| 7:99458340:C:G | R91P | 0.978 |
| 7:99458336:T:A | K92N | 0.977 |
| 7:99458336:T:G | K92N | 0.977 |
| 7:99459179:A:C | L75R | 0.977 |
| 7:99459197:A:T | V69E | 0.976 |
| 7:99459210:C:G | G65R | 0.975 |
| 7:99459210:C:T | G65R | 0.975 |
| 7:99459252:A:G | Y51H | 0.974 |
| 7:99459263:C:T | G47D | 0.974 |
dbSNP variants (sampled 300 via entrez): RS1000093689 (7:99467355 C>T), RS1000230096 (7:99461027 A>G), RS1000312676 (7:99466647 G>A,T), RS1000325486 (7:99461377 T>C), RS1000363478 (7:99466911 C>G,T), RS1000603314 (7:99460790 A>C,T), RS1001208341 (7:99462052 G>A), RS1001366203 (7:99468142 C>A,T), RS1001645276 (7:99460373 G>T), RS1001867382 (7:99461772 C>T), RS1001981979 (7:99459053 A>C), RS1002165619 (7:99465162 G>T), RS1002228633 (7:99466441 T>C), RS1002289634 (7:99457836 G>A,T), RS1002489377 (7:99463358 T>C,G)
Disease associations
OMIM: gene MIM:619792 | 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 |
|---|---|---|
| GCST004730_2 | Facial emotion recognition (sad faces) | 3.000000e-06 |
| GCST005144_1 | Tacrolimus trough concentration in kidney transplant patients | 2.000000e-17 |
| GCST005335_2 | Diffuse cutaneous systemic sclerosis | 2.000000e-06 |
| GCST006249_46 | Serum metabolite levels | 4.000000e-21 |
| GCST007327_6 | Smoking status (ever vs never smokers) | 3.000000e-10 |
| GCST90002389_160 | Lymphocyte percentage of white cells | 4.000000e-16 |
| GCST90002399_184 | Neutrophil percentage of white cells | 2.000000e-15 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008329 | facial emotion recognition measurement |
| EFO:0008458 | tacrolimus measurement |
| EFO:0004318 | smoking behavior |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067082 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — F-type ATPase
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 |
|---|---|---|---|---|
| 8.70 | Kd | 1.997 | nM | CHEMBL5653589 |
| 8.70 | ED50 | 1.997 | nM | CHEMBL5653589 |
| 7.68 | Kd | 20.65 | nM | CHEMBL3752910 |
| 7.68 | ED50 | 20.65 | 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 | 2147919: Binding affinity to human ATP5J2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0020 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147919: Binding affinity to human ATP5J2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0207 | uM |
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, affects expression, affects cotreatment, decreases methylation, decreases expression | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 4 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bufotalin | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| glycidyl methacrylate | 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 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Caffeine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | decreases expression | 1 |
| Dimethyl Sulfoxide | affects expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Estradiol | decreases expression | 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 |
|---|---|---|---|
| CHEMBL5650961 | Binding | Binding affinity to human ATP5J2 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
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2SH | Abcam HEK293T ATP5MF KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): diffuse scleroderma