ATP5MC3
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Summary
ATP5MC3 (ATP synthase membrane subunit c locus 3, HGNC:843) is a protein-coding gene on chromosome 2q31.1, encoding ATP synthase F(0) complex subunit C3, mitochondrial (P48201). 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.
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 different proteins have been identified.
Source: NCBI Gene 518 — RefSeq curated summary.
At a glance
- Gene–disease (curated): dystonia, early-onset, and/or spastic paraplegia (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 37 total — 2 pathogenic, 1 likely-pathogenic
- Phenotypes (HPO): 9
- MANE Select transcript:
NM_001689
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:843 |
| Approved symbol | ATP5MC3 |
| Name | ATP synthase membrane subunit c locus 3 |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000154518 |
| Ensembl biotype | protein_coding |
| OMIM | 602736 |
| Entrez | 518 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 2 retained_intron
ENST00000284727, ENST00000392541, ENST00000409194, ENST00000472782, ENST00000497075, ENST00000877858, ENST00000877859, ENST00000877860, ENST00000877861, ENST00000937346, ENST00000937347, ENST00000937348, ENST00000937349, ENST00000937350, ENST00000941362
RefSeq mRNA: 3 — MANE Select: NM_001689
NM_001002258, NM_001190329, NM_001689
CCDS: CCDS2263
Canonical transcript exons
ENST00000284727 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001016410 | 175176258 | 175178402 |
| ENSE00001016412 | 175179057 | 175179250 |
| ENSE00001588911 | 175181656 | 175181710 |
| ENSE00003574305 | 175181355 | 175181466 |
| ENSE00003602002 | 175180098 | 175180178 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 99.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 188.0861 / max 1280.0117, expressed in 1826 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31936 | 186.1996 | 1826 |
| 31934 | 1.2035 | 473 |
| 31935 | 0.4764 | 184 |
| 31933 | 0.2066 | 71 |
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 | 99.85 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.79 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.72 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.72 | gold quality |
| body of tongue | UBERON:0011876 | 99.72 | gold quality |
| renal medulla | UBERON:0000362 | 99.70 | gold quality |
| pons | UBERON:0000988 | 99.69 | gold quality |
| apex of heart | UBERON:0002098 | 99.68 | gold quality |
| myocardium | UBERON:0002349 | 99.67 | gold quality |
| diaphragm | UBERON:0001103 | 99.64 | gold quality |
| vena cava | UBERON:0004087 | 99.64 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.64 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.62 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.61 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.61 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.60 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.60 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.56 | gold quality |
| jejunum | UBERON:0002115 | 99.55 | gold quality |
| heart | UBERON:0000948 | 99.54 | gold quality |
| penis | UBERON:0000989 | 99.53 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 99.52 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.52 | gold quality |
| tongue | UBERON:0001723 | 99.52 | gold quality |
| duodenum | UBERON:0002114 | 99.52 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.46 | gold quality |
| superior surface of tongue | UBERON:0007371 | 99.43 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 99.41 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.39 | gold quality |
| transverse colon | UBERON:0001157 | 99.38 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 9.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 136.19 |
| E-MTAB-8410 | yes | 44.41 |
| E-MTAB-9467 | yes | 30.32 |
| E-CURD-122 | yes | 20.15 |
| E-MTAB-10042 | yes | 16.65 |
| E-HCAD-10 | yes | 12.15 |
| E-CURD-112 | yes | 11.29 |
| E-HCAD-25 | yes | 8.19 |
| E-MTAB-7606 | no | 441.02 |
| E-GEOD-125970 | no | 42.56 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
90 targeting ATP5MC3, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
Literature-anchored findings (GeneRIF, showing 1)
- ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not involved in forming the permeability transition pore. (PMID:28289229)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atp5mc3a | ENSDARG00000017775 |
| mus_musculus | Atp5mc3 | ENSMUSG00000018770 |
| rattus_norvegicus | Atp5mc3 | ENSRNOG00000001596 |
Paralogs (2): ATP5MC2 (ENSG00000135390), ATP5MC1 (ENSG00000159199)
Protein
Protein identifiers
ATP synthase F(0) complex subunit C3, mitochondrial — P48201 (reviewed: P48201)
Alternative names: ATP synthase lipid-binding protein, ATP synthase membrane subunit c locus 3, ATP synthase proteolipid P3, ATP synthase proton-transporting mitochondrial F(0) complex subunit C3, ATPase protein 9, ATPase subunit c
All UniProt accessions (1): P48201
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. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.
Subunit / interactions. F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Interacts with TMEM70 and TMEM242.
Subcellular location. Mitochondrion membrane.
Post-translational modifications. Trimethylated by ATPSCKMT at Lys-110. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.
Disease relevance. Dystonia, early-onset, and/or spastic paraplegia (DYTSPG) [MIM:619681] An autosomal dominant, highly penetrant movement disorder characterized by spastic paraplegia and/or dystonia to varying degrees in affected individuals. Cognition is not affected. There is high intra- and interfamilial variability in phenotype and age of onset. Some patients have onset of progressive focal or generalized dystonia in the first decade, whereas others develop progressive spastic paraplegia as adults. Some affected individuals have manifestations of both disorders. The disease is caused by variants affecting the gene represented in this entry.
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 (3): NP_001002258, NP_001177258, NP_001680* (*=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
UniProt features (10 total): sequence variant 4, transmembrane region 2, transit peptide 1, chain 1, site 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P48201-F1 | 71.26 | 0.47 |
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): 125 (reversibly protonated during proton transport)
Post-translational modifications (1): 110
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: 336 (showing top):
RNGTGGGC_UNKNOWN, MORF_DNMT1, RRAGTTGT_UNKNOWN, MORF_ESPL1, MODULE_151, GCM_NPM1, MORF_RRM1, MORF_HDAC1, MORF_UBE2N, HSIAO_HOUSEKEEPING_GENES, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, MORF_HDAC2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS
GO Biological Process (3): proton motive force-driven ATP synthesis (GO:0015986), monoatomic ion transport (GO:0006811), proton transmembrane transport (GO:1902600)
GO Molecular Function (3): lipid binding (GO:0008289), proton transmembrane transporter activity (GO:0015078), protein binding (GO:0005515)
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-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 |
|---|---|
| binding | 2 |
| proton-transporting two-sector ATPase complex | 2 |
| ATP biosynthetic process | 1 |
| transport | 1 |
| monoatomic cation transmembrane transport | 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
2550 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATP5MC3 | UQCRFS1 | P47985 | 920 |
| ATP5MC3 | ATP5F1C | P36542 | 814 |
| ATP5MC3 | ATP5PD | O75947 | 783 |
| ATP5MC3 | CLCN3 | P51790 | 765 |
| ATP5MC3 | ATP5PB | P24539 | 750 |
| ATP5MC3 | ATP5F1A | P25705 | 743 |
| ATP5MC3 | ATP5F1E | P56381 | 726 |
| ATP5MC3 | ATP5PF | P18859 | 720 |
| ATP5MC3 | ATP5F1D | P30049 | 719 |
| ATP5MC3 | ATP5F1B | P06576 | 716 |
| ATP5MC3 | ACSF2 | Q96CM8 | 710 |
| ATP5MC3 | ATP5PO | P48047 | 681 |
| ATP5MC3 | RPL8 | P25120 | 666 |
| ATP5MC3 | EMC2 | Q15006 | 622 |
| ATP5MC3 | DMAC2L | Q99766 | 617 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FPR2 | ARL6IP5 | psi-mi:“MI:0914”(association) | 0.640 |
| ATP5MC3 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| ATP5MC3 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM31 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM241A | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | 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 | |
| MEP1B | ATP5MC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PROM1 | ATP5MC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DGCR2 | CCDC85C | psi-mi:“MI:0914”(association) | 0.350 |
| CD80 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR1E | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NIPAL2 | ATP5MC3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC37A3 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP5MC3 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| ABHD16A | ATP5MC3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (26): ATP5G3 (Affinity Capture-RNA), ATP5G3 (Affinity Capture-RNA), ATP5G3 (Two-hybrid), COL20A1 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), GHDC (Affinity Capture-MS), ATP5D (Affinity Capture-MS), GOLGA4 (Affinity Capture-MS), ATP5G3 (Two-hybrid), ATP5G3 (PCA), ATP5G3 (Affinity Capture-MS), TMEM31 (Two-hybrid), ATP5G3 (Affinity Capture-RNA), ATP5B (Affinity Capture-MS), ATPIF1 (Affinity Capture-MS)
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
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 1 |
| Uncertain significance | 17 |
| Likely benign | 3 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2500983 | NM_001689.5(ATP5MC3):c.319C>G (p.Pro107Ala) | Pathogenic |
| 2500984 | NM_001689.5(ATP5MC3):c.236G>T (p.Gly79Val) | Pathogenic |
| 976731 | NM_001689.5(ATP5MC3):c.318C>G (p.Asn106Lys) | Likely pathogenic |
SpliceAI
411 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:175179051:GATTA:G | donor_loss | 1.0000 |
| 2:175179052:ATTAC:A | donor_loss | 1.0000 |
| 2:175179053:TTA:T | donor_loss | 1.0000 |
| 2:175179054:TA:T | donor_loss | 1.0000 |
| 2:175179055:A:AT | donor_loss | 1.0000 |
| 2:175179056:C:CT | donor_loss | 1.0000 |
| 2:175179246:GAGCC:G | acceptor_gain | 1.0000 |
| 2:175179248:GCC:G | acceptor_gain | 1.0000 |
| 2:175179249:CC:C | acceptor_gain | 1.0000 |
| 2:175179249:CCC:C | acceptor_gain | 1.0000 |
| 2:175179250:CC:C | acceptor_gain | 1.0000 |
| 2:175179251:C:CA | acceptor_loss | 1.0000 |
| 2:175179251:C:CC | acceptor_gain | 1.0000 |
| 2:175179252:T:A | acceptor_loss | 1.0000 |
| 2:175179259:C:CT | acceptor_gain | 1.0000 |
| 2:175179260:A:T | acceptor_gain | 1.0000 |
| 2:175180094:TTAC:T | donor_loss | 1.0000 |
| 2:175180095:TA:T | donor_loss | 1.0000 |
| 2:175180096:ACCTC:A | donor_loss | 1.0000 |
| 2:175180097:C:CT | donor_loss | 1.0000 |
| 2:175180097:CCT:C | donor_gain | 1.0000 |
| 2:175180114:G:A | donor_gain | 1.0000 |
| 2:175180174:CGGAT:C | acceptor_gain | 1.0000 |
| 2:175180179:C:A | acceptor_loss | 1.0000 |
| 2:175180179:C:CC | acceptor_gain | 1.0000 |
| 2:175180180:T:A | acceptor_loss | 1.0000 |
| 2:175181350:CGCA:C | donor_loss | 1.0000 |
| 2:175181353:A:AC | donor_gain | 1.0000 |
| 2:175181354:C:CC | donor_gain | 1.0000 |
| 2:175181354:C:CG | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000006288 (2:175178582 T>A,C), RS1000313646 (2:175177883 G>A), RS1000569638 (2:175183463 T>C), RS1000635497 (2:175177365 G>C), RS1000857866 (2:175176676 G>A,T), RS1001056534 (2:175182993 A>C), RS1001194482 (2:175183302 T>C), RS1001649088 (2:175177746 C>T), RS1002326307 (2:175181985 G>T), RS1002653812 (2:175176303 A>C), RS1002707612 (2:175175871 T>C), RS1003741271 (2:175181157 T>C), RS1003920824 (2:175182359 G>T), RS1003991203 (2:175181874 G>C), RS1004487018 (2:175176254 C>T)
Disease associations
OMIM: gene MIM:602736 | disease phenotypes: MIM:619681
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| dystonia, early-onset, and/or spastic paraplegia | Strong | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| mitochondrial disease | Limited | AD |
Mondo (1): dystonia, early-onset, and/or spastic paraplegia (MONDO:0859215)
Orphanet (0):
HPO phenotypes
9 total (9 of 9 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001258 | Spastic paraplegia |
| HP:0001288 | Gait disturbance |
| HP:0001332 | Dystonia |
| HP:0001347 | Hyperreflexia |
| HP:0003581 | Adult onset |
| HP:0007340 | Lower limb muscle weakness |
| HP:0011463 | Childhood onset |
| HP:0012049 | Laryngeal dystonia |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1982235 | ATP5MC3 | 0.00 | 0 |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — F-type ATPase
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 5 |
| bisphenol A | affects expression, decreases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Air Pollutants | decreases expression, increases abundance | 3 |
| Cyclosporine | decreases expression | 3 |
| Tunicamycin | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| methylmercuric chloride | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| tris(chloroethyl)phosphate | decreases expression, increases abundance | 1 |
| arsenic trichloride | decreases expression, increases abundance | 1 |
| CD 437 | decreases expression | 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 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Acetaminophen | affects cotreatment, decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Catechin | decreases expression, affects cotreatment | 1 |
| Cocaine | decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Flame Retardants | decreases expression, increases abundance | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydralazine | increases expression, affects cotreatment | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2SG | Abcam HEK293T ATP5MC3 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: dystonia, early-onset, and/or spastic paraplegia, mitochondrial disease
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): dystonia, early-onset, and/or spastic paraplegia