ATP5PD
gene geneOn this page
Also known as ATPQATP5JD
Summary
ATP5PD (ATP synthase peripheral stalk subunit d, HGNC:845) is a protein-coding gene on chromosome 17q25.1, encoding ATP synthase peripheral stalk subunit d, mitochondrial (O75947). Subunit d, 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: 21.9% 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 d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15.
Source: NCBI Gene 10476 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 29 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 21.9% of screened cell lines
- MANE Select transcript:
NM_006356
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:845 |
| Approved symbol | ATP5PD |
| Name | ATP synthase peripheral stalk subunit d |
| Location | 17q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ATPQ, ATP5JD |
| Ensembl gene | ENSG00000167863 |
| Ensembl biotype | protein_coding |
| OMIM | 618121 |
| Entrez | 10476 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 17 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000301587, ENST00000344546, ENST00000538432, ENST00000580649, ENST00000582341, ENST00000909788, ENST00000909789, ENST00000918881, ENST00000918882, ENST00000918883, ENST00000918884, ENST00000918885, ENST00000918886, ENST00000918887, ENST00000918888, ENST00000918889, ENST00000918890, ENST00000918891, ENST00000918892, ENST00000918893
RefSeq mRNA: 2 — MANE Select: NM_006356
NM_001003785, NM_006356
CCDS: CCDS11712, CCDS32727
Canonical transcript exons
ENST00000301587 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001117770 | 75042181 | 75042277 |
| ENSE00001117773 | 75040092 | 75040163 |
| ENSE00001389954 | 75042529 | 75042659 |
| ENSE00002695382 | 75046925 | 75046969 |
| ENSE00003476451 | 75038863 | 75039063 |
| ENSE00003599114 | 75039209 | 75039271 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 99.72.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 235.1540 / max 6581.4593, expressed in 1828 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 168031 | 235.1540 | 1828 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.72 | gold quality |
| myocardium | UBERON:0002349 | 99.65 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.58 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.57 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.57 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.57 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.57 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.57 | gold quality |
| biceps brachii | UBERON:0001507 | 99.56 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.55 | gold quality |
| apex of heart | UBERON:0002098 | 99.54 | gold quality |
| body of tongue | UBERON:0011876 | 99.53 | gold quality |
| heart | UBERON:0000948 | 99.51 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.47 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.44 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.44 | gold quality |
| upper leg skin | UBERON:0004262 | 99.44 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.43 | gold quality |
| muscle of leg | UBERON:0001383 | 99.43 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.43 | gold quality |
| triceps brachii | UBERON:0001509 | 99.41 | gold quality |
| muscle organ | UBERON:0001630 | 99.39 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.39 | gold quality |
| vena cava | UBERON:0004087 | 99.39 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 99.39 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.37 | gold quality |
| mammalian vulva | UBERON:0000997 | 99.35 | gold quality |
| diaphragm | UBERON:0001103 | 99.35 | gold quality |
| tongue | UBERON:0001723 | 99.35 | gold quality |
| oral cavity | UBERON:0000167 | 99.34 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-9388 | no | 1328.44 |
| E-HCAD-31 | no | 1.88 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): RBPJ
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 21.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19110265)
- By merging results of a meta-GWAS, results in the CHARGE consortium data sets and an in vivo genotyping comprising 4501 individuals, detected a novel locus ATP5H/KCTD2 associated with Alzheimer’s disease risk (PMID:23857120)
- The Network analyses identified ATP5H expression in temporal cortex in patient with late-onset Alzheimer’s disease. (PMID:28242297)
- ATP5H loss in the tumor is strongly linked to failure of therapy, disease progression, and poor survival in patients with cancer. (PMID:30124467)
- Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males. (PMID:36640659)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp5pd | ENSDARG00000098355 |
| mus_musculus | Atp5pd | ENSMUSG00000034566 |
| rattus_norvegicus | Atp5pd | ENSRNOG00000003626 |
| rattus_norvegicus | ENSRNOG00000030158 | |
| drosophila_melanogaster | knon | FBGN0285943 |
| caenorhabditis_elegans | WBGENE00007385 |
Protein
Protein identifiers
ATP synthase peripheral stalk subunit d, mitochondrial — O75947 (reviewed: O75947)
Alternative names: ATP synthase peripheral stalk subunit d
All UniProt accessions (2): O75947, F5H608
UniProt curated annotations — full annotation on UniProt →
Function. Subunit d, 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. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements.
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). Interacts with FLVCR2; this interaction occurs in the absence of heme and is disrupted upon heme binding.
Subcellular location. Mitochondrion. Mitochondrion inner membrane.
Similarity. Belongs to the ATPase d subunit family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75947-1 | 1 | yes |
| O75947-2 | 2 |
RefSeq proteins (2): NP_001003785, NP_006347* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008689 | ATP_synth_F0_dsu_mt | Family |
| IPR036228 | ATP_synth_F0_dsu_sf_mt | Homologous_superfamily |
Pfam: PF05873
UniProt features (30 total): modified residue 15, helix 9, turn 2, initiator methionine 1, chain 1, splice variant 1, strand 1
Structure
Experimental structures (PDB)
14 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 |
| 8H9G | ELECTRON MICROSCOPY | 2.95 |
| 8H9M | ELECTRON MICROSCOPY | 3 |
| 8H9V | ELECTRON MICROSCOPY | 3.02 |
| 8KHF | ELECTRON MICROSCOPY | 3.13 |
| 8H9J | ELECTRON MICROSCOPY | 3.26 |
| 8H9Q | ELECTRON MICROSCOPY | 3.47 |
| 8H9K | ELECTRON MICROSCOPY | 3.51 |
| 8H9N | ELECTRON MICROSCOPY | 3.56 |
| 8H9R | ELECTRON MICROSCOPY | 3.97 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75947-F1 | 87.11 | 0.45 |
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 (15): 95, 95, 117, 144, 144, 149, 149, 2, 32, 63, 72, 78, 78, 85, 85
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: 175 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, CAGCTG_AP4_Q5, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, YY1_Q6, 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, MORF_SKP1A, MARTINEZ_RB1_TARGETS_DN, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION
GO Biological Process (4): proton motive force-driven ATP synthesis (GO:0015986), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), 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 (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), proton-transporting ATP synthase complex (GO:0045259), membrane (GO:0016020)
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 |
|---|---|
| proton motive force-driven ATP synthesis | 2 |
| ATP biosynthetic process | 1 |
| mitochondrion | 1 |
| oxidative phosphorylation | 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 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2737 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP5PD | ATP5PO | P48047 | 907 |
| ATP5PD | ATP5PF | P18859 | 874 |
| ATP5PD | ATP5PB | P24539 | 864 |
| ATP5PD | ATP5F1D | P30049 | 847 |
| ATP5PD | SLC25A19 | Q9HC21 | 845 |
| ATP5PD | ATP5F1B | P06576 | 838 |
| ATP5PD | ATP5F1A | P25705 | 832 |
| ATP5PD | ATP5MG | O75964 | 820 |
| ATP5PD | ATP5F1C | P36542 | 816 |
| ATP5PD | ATP5MF | P56134 | 810 |
| ATP5PD | ATP5F1E | P56381 | 793 |
| ATP5PD | ATP5ME | P56385 | 791 |
| ATP5PD | ATP5MC3 | P48201 | 783 |
| ATP5PD | COX5A | P20674 | 775 |
| ATP5PD | KCTD2 | Q14681 | 701 |
IntAct
188 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| ATP5PD | ATP5PB | psi-mi:“MI:0915”(physical association) | 0.760 |
| ATP5PB | ATP5PD | psi-mi:“MI:0915”(physical association) | 0.760 |
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| PRELID3B | TRIAP1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ATP5PD | ATP5PF | psi-mi:“MI:0915”(physical association) | 0.670 |
| ATP5F1B | ATP5PD | psi-mi:“MI:0915”(physical association) | 0.670 |
| ATP5F1B | ATP5PD | psi-mi:“MI:0914”(association) | 0.670 |
| ATP5PF | ATP5PD | psi-mi:“MI:0914”(association) | 0.670 |
| ATP5PB | SLC19A2 | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| STK4 | STRN | psi-mi:“MI:0914”(association) | 0.610 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| 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 |
| STOM | EI24 | psi-mi:“MI:0914”(association) | 0.510 |
| vpu | SCAMP3 | psi-mi:“MI:0914”(association) | 0.460 |
| TNFAIP3 | LRRIQ3 | psi-mi:“MI:0914”(association) | 0.420 |
| BRD1 | ATP5PD | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (350): ATP5H (Affinity Capture-MS), ATP5H (Affinity Capture-MS), ATP5H (Affinity Capture-MS), ATP5D (Co-fractionation), ATP5F1 (Co-fractionation), ATP5H (Co-fractionation), ATP5H (Co-fractionation), ATP5H (Co-fractionation), ATP5H (Co-fractionation), ATP5H (Co-fractionation), ATP5H (Co-fractionation), ATP5I (Co-fractionation), ATP5O (Co-fractionation), CHCHD2 (Co-fractionation), CISD1 (Co-fractionation)
ESM2 similar proteins: A1CXH2, A2QI68, A3LNG8, A3LQD9, A5D9S8, A5DM93, A5DSD2, A5DTG8, A5DY61, B0Y5Z6, B2WBQ6, B6QHK6, B8MJK3, B9WLF1, C0HK60, C4YLH0, C5E325, C5M3V6, C7YIH6, O13350, O42911, O75947, O94373, O94390, P05626, P0C2C8, P13620, P30902, P31399, P32453, P34748, P40513, P42116, P87127, Q02204, Q0V4H8, Q19126, Q20053, Q22505, Q24251
Diamond homologs: O75947, P13620, P31399, Q24251, Q9DCX2, P0C2C8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ATP5PD | “form complex” | “ATP synthase” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 200 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 | 7 | 30.3× | 4e-07 |
| Cristae formation | 7 | 18.4× | 8e-06 |
| Mitochondrial protein import | 11 | 14.0× | 1e-07 |
| Mitochondrial biogenesis | 8 | 10.2× | 9e-05 |
| Mitochondrial protein degradation | 11 | 9.5× | 2e-06 |
| Aerobic respiration and respiratory electron transport | 13 | 8.7× | 5e-07 |
| SLC-mediated transmembrane transport | 11 | 4.9× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proton motive force-driven ATP synthesis | 7 | 32.5× | 6e-07 |
| proton motive force-driven mitochondrial ATP synthesis | 12 | 18.3× | 2e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
832 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:75039061:CAT:C | acceptor_gain | 1.0000 |
| 17:75039064:C:CC | acceptor_gain | 1.0000 |
| 17:75039064:C:T | acceptor_loss | 1.0000 |
| 17:75039065:T:A | acceptor_loss | 1.0000 |
| 17:75039671:C:CT | donor_gain | 1.0000 |
| 17:75039672:T:TT | donor_gain | 1.0000 |
| 17:75040090:A:AC | donor_gain | 1.0000 |
| 17:75040091:C:CC | donor_gain | 1.0000 |
| 17:75040091:CAT:C | donor_gain | 1.0000 |
| 17:75040164:C:CC | acceptor_gain | 1.0000 |
| 17:75042178:CA:C | donor_loss | 1.0000 |
| 17:75042179:A:AC | donor_gain | 1.0000 |
| 17:75042179:A:C | donor_loss | 1.0000 |
| 17:75042180:C:CC | donor_gain | 1.0000 |
| 17:75042180:CCTT:C | donor_gain | 1.0000 |
| 17:75042273:CCAAC:C | acceptor_gain | 1.0000 |
| 17:75042274:CAAC:C | acceptor_gain | 1.0000 |
| 17:75042274:CAACC:C | acceptor_gain | 1.0000 |
| 17:75042275:AAC:A | acceptor_gain | 1.0000 |
| 17:75042276:AC:A | acceptor_gain | 1.0000 |
| 17:75042277:CC:C | acceptor_gain | 1.0000 |
| 17:75042278:C:CC | acceptor_gain | 1.0000 |
| 17:75042278:CTG:C | acceptor_loss | 1.0000 |
| 17:75042279:T:G | acceptor_loss | 1.0000 |
| 17:75042283:C:CT | acceptor_gain | 1.0000 |
| 17:75042283:C:T | acceptor_gain | 1.0000 |
| 17:75042285:C:CT | acceptor_gain | 1.0000 |
| 17:75042286:A:T | acceptor_gain | 1.0000 |
| 17:75039060:CCAT:C | acceptor_gain | 0.9900 |
| 17:75039061:CATC:C | acceptor_gain | 0.9900 |
AlphaMissense
1067 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:75038961:A:G | W153R | 0.984 |
| 17:75038961:A:T | W153R | 0.984 |
| 17:75038959:C:A | W153C | 0.977 |
| 17:75038959:C:G | W153C | 0.977 |
| 17:75038998:G:C | F140L | 0.974 |
| 17:75038998:G:T | F140L | 0.974 |
| 17:75039000:A:G | F140L | 0.974 |
| 17:75042238:C:A | W54C | 0.971 |
| 17:75042238:C:G | W54C | 0.971 |
| 17:75042240:A:G | W54R | 0.971 |
| 17:75042240:A:T | W54R | 0.971 |
| 17:75042612:C:A | W13C | 0.961 |
| 17:75042612:C:G | W13C | 0.961 |
| 17:75042614:A:G | W13R | 0.958 |
| 17:75042614:A:T | W13R | 0.958 |
| 17:75039029:T:G | Q130P | 0.957 |
| 17:75042559:A:G | L31P | 0.954 |
| 17:75042239:C:G | W54S | 0.953 |
| 17:75040161:A:C | F74L | 0.952 |
| 17:75040161:A:T | F74L | 0.952 |
| 17:75040163:A:G | F74L | 0.952 |
| 17:75038958:G:A | P154S | 0.942 |
| 17:75039025:C:A | M131I | 0.942 |
| 17:75039025:C:G | M131I | 0.942 |
| 17:75039025:C:T | M131I | 0.942 |
| 17:75038955:G:C | H155D | 0.940 |
| 17:75038960:C:G | W153S | 0.935 |
| 17:75042245:A:T | I52N | 0.933 |
| 17:75042538:A:G | L38P | 0.933 |
| 17:75042555:T:A | K32N | 0.932 |
dbSNP variants (sampled 300 via entrez): RS1000204754 (17:75043094 C>T), RS1000486566 (17:75042836 G>C), RS1000537240 (17:75044945 G>T), RS1001093033 (17:75040817 C>T), RS1001435267 (17:75038567 G>A), RS1001616314 (17:75042287 A>C,G), RS1001897919 (17:75043625 A>C,T), RS1001924246 (17:75040576 T>C), RS1001958847 (17:75048652 C>T), RS1002433252 (17:75046519 C>A,G,T), RS1003031027 (17:75045372 T>G), RS1003341394 (17:75042718 A>G), RS1003443607 (17:75041204 C>T), RS1003535688 (17:75048699 G>T), RS1003901145 (17:75046483 C>A,T)
Disease associations
OMIM: gene MIM:618121 | 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 |
|---|---|---|
| GCST003423_1 | Alzheimer’s disease or small vessel stroke | 2.000000e-08 |
| GCST008103_113 | Bipolar disorder | 4.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001504 | small vessel stroke |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066999 (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 |
|---|---|---|---|---|
| 7.25 | Kd | 55.73 | nM | CHEMBL5653589 |
| 7.25 | ED50 | 55.73 | nM | CHEMBL5653589 |
| 7.14 | Kd | 72.67 | nM | CHEMBL3752910 |
| 7.14 | ED50 | 72.67 | 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 | 2147917: Binding affinity to human ATP5H incubated for 45 mins by Kinobead based pull down assay | kd | 0.0557 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147917: Binding affinity to human ATP5H incubated for 45 mins by Kinobead based pull down assay | kd | 0.0727 | uM |
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, increases expression | 3 |
| Doxorubicin | affects expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| 3-methyladenine | affects cotreatment, decreases expression, decreases reaction | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 1-nitropyrene | decreases expression, affects cotreatment, decreases reaction | 1 |
| diallyl trisulfide | decreases expression, increases expression | 1 |
| microcystin RR | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| chloropicrin | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Diuron | decreases expression | 1 |
| Dopamine | increases expression | 1 |
| Drugs, Chinese Herbal | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Hydrogen Peroxide | decreases expression | 1 |
| Isoniazid | increases 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 |
|---|---|---|---|
| CHEMBL5650959 | Binding | Binding affinity to human ATP5H 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 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.