NDUFB5
gene geneOn this page
Also known as SGDHCI-SGDHMGC12314
Summary
NDUFB5 (NADH:ubiquinone oxidoreductase subunit B5, HGNC:7700) is a protein-coding gene on chromosome 3q26.33, encoding NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial (O43674). Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. It is a selective cancer dependency (DepMap: 14.2% of cell lines).
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 4711 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 51 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 14.2% of screened cell lines
- MANE Select transcript:
NM_002492
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7700 |
| Approved symbol | NDUFB5 |
| Name | NADH:ubiquinone oxidoreductase subunit B5 |
| Location | 3q26.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SGDH, CI-SGDH, MGC12314 |
| Ensembl gene | ENSG00000136521 |
| Ensembl biotype | protein_coding |
| OMIM | 603841 |
| Entrez | 4711 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 11 protein_coding, 5 retained_intron, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined
ENST00000259037, ENST00000359944, ENST00000468210, ENST00000471112, ENST00000472629, ENST00000473500, ENST00000476587, ENST00000477177, ENST00000480374, ENST00000482604, ENST00000488002, ENST00000491054, ENST00000493716, ENST00000493866, ENST00000496904, ENST00000611971, ENST00000906708, ENST00000926985, ENST00000926986, ENST00000926987, ENST00000947760
RefSeq mRNA: 3 — MANE Select: NM_002492
NM_001199957, NM_001199958, NM_002492
CCDS: CCDS3234, CCDS56297, CCDS75054
Canonical transcript exons
ENST00000259037 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001874142 | 179623920 | 179627647 |
| ENSE00001948963 | 179604794 | 179604939 |
| ENSE00003492573 | 179615983 | 179616049 |
| ENSE00003506204 | 179614971 | 179615059 |
| ENSE00003600442 | 179616983 | 179617044 |
| ENSE00003626922 | 179618415 | 179618521 |
Expression profiles
Bgee: expression breadth ubiquitous, 303 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 173.0284 / max 3146.6910, expressed in 1827 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 39935 | 172.8492 | 1827 |
| 39934 | 0.1145 | 28 |
| 39932 | 0.0518 | 6 |
| 39933 | 0.0130 | 5 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| heart right ventricle | UBERON:0002080 | 99.32 | gold quality |
| biceps brachii | UBERON:0001507 | 99.24 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.14 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 99.01 | gold quality |
| retina | UBERON:0000966 | 98.98 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.98 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.83 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.83 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.63 | gold quality |
| triceps brachii | UBERON:0001509 | 98.55 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.53 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.46 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.46 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.40 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.37 | gold quality |
| right adrenal gland | UBERON:0001233 | 98.37 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.37 | gold quality |
| deltoid | UBERON:0001476 | 98.37 | gold quality |
| heart | UBERON:0000948 | 98.36 | gold quality |
| rectum | UBERON:0001052 | 98.36 | gold quality |
| muscle organ | UBERON:0001630 | 98.35 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 98.35 | gold quality |
| muscle of leg | UBERON:0001383 | 98.33 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.33 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 98.27 | gold quality |
| quadriceps femoris | UBERON:0001377 | 98.26 | gold quality |
| apex of heart | UBERON:0002098 | 98.25 | gold quality |
| adult organism | UBERON:0007023 | 98.25 | gold quality |
| monocyte | CL:0000576 | 98.20 | gold quality |
| diaphragm | UBERON:0001103 | 98.20 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10042 | yes | 9.85 |
| E-MTAB-8559 | no | 537.64 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
25 targeting NDUFB5, 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-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-187-5P | 99.74 | 70.26 | 1404 |
| HSA-MIR-4804-3P | 99.65 | 67.78 | 866 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-3123 | 99.47 | 67.15 | 2693 |
| HSA-MIR-6505-3P | 99.34 | 67.39 | 1071 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-450A-2-3P | 97.91 | 67.56 | 1459 |
| HSA-MIR-4749-3P | 96.40 | 66.24 | 798 |
| HSA-MIR-4653-3P | 96.26 | 67.03 | 725 |
| HSA-MIR-571 | 95.38 | 66.54 | 671 |
| HSA-MIR-7109-3P | 94.23 | 67.19 | 743 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 14.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia. (PMID:19034380)
- Data suggest that the hub genes NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5), translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), and voltage-dependent anion channel 3 (VDAC3) might serve as potential biomarkers for diagnosis and/or therapeutic targets for precise treatment of septic cardiomyopathy (SC) . (PMID:31794266)
- METTL3-mediated NDUFB5 m6A modification promotes cell migration and mitochondrial respiration to promote the wound healing of diabetic foot ulcer. (PMID:38982516)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndufb5 | ENSDARG00000070824 |
| mus_musculus | Ndufb5 | ENSMUSG00000027673 |
| rattus_norvegicus | Ndufb5 | ENSRNOG00000011949 |
| drosophila_melanogaster | ND-SGDH | FBGN0011455 |
| caenorhabditis_elegans | WBGENE00016118 |
Protein
Protein identifiers
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial — O43674 (reviewed: O43674)
Alternative names: Complex I-SGDH, NADH-ubiquinone oxidoreductase SGDH subunit
All UniProt accessions (8): A0A087WYD0, E7EWP0, O43674, F8WDD2, F8WDZ2, H0Y886, H7C568, H7C5C1
UniProt curated annotations — full annotation on UniProt →
Function. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.
Subunit / interactions. Complex I is composed of 45 different subunits.
Subcellular location. Mitochondrion inner membrane.
Similarity. Belongs to the complex I NDUFB5 subunit family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43674-1 | 1 | yes |
| O43674-2 | 2 |
RefSeq proteins (3): NP_001186886, NP_001186887, NP_002483* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019173 | NADH_UbQ_OxRdtase_B5_su | Family |
Pfam: PF09781
UniProt features (5 total): transit peptide 1, chain 1, transmembrane region 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9I4I | ELECTRON MICROSCOPY | 2.63 |
| 9TI4 | ELECTRON MICROSCOPY | 2.66 |
| 9CWT | ELECTRON MICROSCOPY | 3.44 |
| 5XTC | ELECTRON MICROSCOPY | 3.7 |
| 5XTD | ELECTRON MICROSCOPY | 3.7 |
| 5XTH | ELECTRON MICROSCOPY | 3.9 |
| 5XTI | ELECTRON MICROSCOPY | 17.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43674-F1 | 84.68 | 0.70 |
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-611105 | Respiratory electron transport |
| R-HSA-6799198 | Complex I biogenesis |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
MSigDB gene sets: 232 (showing top):
MODULE_77, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, RIZKI_TUMOR_INVASIVENESS_3D_DN, chr3q26, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, WATANABE_RECTAL_CANCER_RADIOTHERAPY_RESPONSIVE_UP, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS
GO Biological Process (4): mitochondrial electron transport, NADH to ubiquinone (GO:0006120), aerobic respiration (GO:0009060), proton motive force-driven mitochondrial ATP synthesis (GO:0042776), proton transmembrane transport (GO:1902600)
GO Molecular Function (2): NADH dehydrogenase (ubiquinone) activity (GO:0008137), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), respiratory chain complex I (GO:0045271), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Aerobic respiration and respiratory electron transport | 1 |
| Respiratory electron transport | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| cellular respiration | 1 |
| mitochondrion | 1 |
| oxidative phosphorylation | 1 |
| proton motive force-driven ATP synthesis | 1 |
| monoatomic cation transmembrane transport | 1 |
| NADH dehydrogenase activity | 1 |
| electron transfer activity | 1 |
| proton transmembrane transporter activity | 1 |
| oxidoreduction-driven active transmembrane transporter activity | 1 |
| oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor | 1 |
| active monoatomic ion transmembrane transporter activity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| NADH dehydrogenase complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
Protein interactions and networks
STRING
1924 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDUFB5 | NDUFB10 | O96000 | 966 |
| NDUFB5 | NDUFB3 | O43676 | 947 |
| NDUFB5 | NDUFB11 | Q9NX14 | 929 |
| NDUFB5 | NDUFA5 | Q16718 | 915 |
| NDUFB5 | NDUFA2 | O43678 | 907 |
| NDUFB5 | NDUFA6 | P56556 | 904 |
| NDUFB5 | NDUFC1 | O43677 | 902 |
| NDUFB5 | NDUFS6 | O75380 | 901 |
| NDUFB5 | NDUFB1 | O75438 | 897 |
| NDUFB5 | NDUFV2 | P19404 | 887 |
| NDUFB5 | NDUFB4 | O95168 | 884 |
| NDUFB5 | NDUFB6 | O95139 | 884 |
| NDUFB5 | NDUFA7 | O95182 | 860 |
| NDUFB5 | NDUFA8 | P51970 | 821 |
| NDUFB5 | NDUFV3 | P56181 | 820 |
IntAct
127 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFA13 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| ENPP6 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFB5 | NDUFB3 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFAF4 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFA9 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFB5 | SCAND1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NDUFS5 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFA9 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMMDC1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| FUT1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| GALNT6 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.530 |
| ITM2A | NDUFB5 | psi-mi:“MI:0914”(association) | 0.530 |
| IPPK | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| YIPF3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFV2 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (210): NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), ATP5F1 (Co-fractionation), EIF3I (Co-fractionation), MTCH2 (Co-fractionation), NDUFS1 (Co-fractionation), UQCRC2 (Co-fractionation), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS)
ESM2 similar proteins: A1XQT2, A3KP48, A8KB87, A8WGU8, O09111, O43674, O49313, O74988, O93980, P00424, P00425, P09669, P0DKM0, P11950, P53077, P80971, Q02376, Q02380, Q0MQ88, Q0MQD6, Q0MQD7, Q0MQD8, Q0MQJ3, Q290M9, Q29DG0, Q2NKR7, Q3T0E3, Q4QQV3, Q4R4E0, Q5R504, Q5R7J0, Q6CCF6, Q6CHT7, Q6CK73, Q6CLM9, Q6DQX6, Q6FW43, Q75FA7, Q7JX57, Q7YRK3
Diamond homologs: O43674, Q02380, Q0MQD6, Q0MQD7, Q0MQD8, Q4R4E0, Q9CQH3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NDUFB5 | “form complex” | “NADH-ubiquinone oxidoreductase-Mitochondrial respiratory chain complex I” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 112 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 |
|---|---|---|---|
| Complex I biogenesis | 24 | 50.3× | 1e-33 |
| Respiratory electron transport | 24 | 28.9× | 3e-27 |
| Aerobic respiration and respiratory electron transport | 24 | 26.9× | 1e-26 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial electron transport, NADH to ubiquinone | 18 | 65.9× | 1e-26 |
| proton motive force-driven mitochondrial ATP synthesis | 22 | 59.1× | 2e-31 |
| aerobic respiration | 22 | 55.6× | 6e-31 |
| mitochondrial respiratory chain complex I assembly | 11 | 46.1× | 6e-14 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
51 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 34 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1454 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:179615981:A:AG | acceptor_gain | 1.0000 |
| 3:179615982:G:GG | acceptor_gain | 1.0000 |
| 3:179615982:GA:G | acceptor_gain | 1.0000 |
| 3:179616981:A:AG | acceptor_gain | 1.0000 |
| 3:179616981:A:G | acceptor_loss | 1.0000 |
| 3:179616982:G:GA | acceptor_loss | 1.0000 |
| 3:179616982:G:GG | acceptor_gain | 1.0000 |
| 3:179617040:ATAAG:A | donor_loss | 1.0000 |
| 3:179617041:TAAG:T | donor_loss | 1.0000 |
| 3:179617042:AAG:A | donor_loss | 1.0000 |
| 3:179617043:AGG:A | donor_loss | 1.0000 |
| 3:179617044:GG:G | donor_loss | 1.0000 |
| 3:179617045:G:GC | donor_loss | 1.0000 |
| 3:179617046:T:G | donor_loss | 1.0000 |
| 3:179618410:TGTA:T | acceptor_loss | 1.0000 |
| 3:179618411:GTA:G | acceptor_loss | 1.0000 |
| 3:179618412:TAGC:T | acceptor_loss | 1.0000 |
| 3:179618413:A:AG | acceptor_gain | 1.0000 |
| 3:179618413:AGCAT:A | acceptor_loss | 1.0000 |
| 3:179618414:G:GG | acceptor_gain | 1.0000 |
| 3:179618414:GC:G | acceptor_gain | 1.0000 |
| 3:179618414:GCA:G | acceptor_gain | 1.0000 |
| 3:179618414:GCAT:G | acceptor_gain | 1.0000 |
| 3:179618414:GCATC:G | acceptor_gain | 1.0000 |
| 3:179619100:C:G | donor_gain | 1.0000 |
| 3:179623918:AG:A | acceptor_gain | 1.0000 |
| 3:179623919:GG:G | acceptor_gain | 1.0000 |
| 3:179614557:T:G | donor_gain | 0.9900 |
| 3:179615056:ATTGG:A | donor_loss | 0.9900 |
| 3:179615058:TGG:T | donor_loss | 0.9900 |
AlphaMissense
1216 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:179618422:T:A | I117K | 0.992 |
| 3:179617035:A:C | E111D | 0.990 |
| 3:179617035:A:T | E111D | 0.990 |
| 3:179616005:G:A | G79E | 0.988 |
| 3:179617030:T:A | W110R | 0.988 |
| 3:179617030:T:C | W110R | 0.988 |
| 3:179618430:T:A | W120R | 0.987 |
| 3:179618430:T:C | W120R | 0.987 |
| 3:179616004:G:A | G79R | 0.986 |
| 3:179616004:G:C | G79R | 0.986 |
| 3:179618422:T:G | I117R | 0.986 |
| 3:179618416:A:G | H115R | 0.984 |
| 3:179618484:G:C | A138P | 0.984 |
| 3:179616026:T:A | I86K | 0.983 |
| 3:179617022:C:A | P107Q | 0.983 |
| 3:179617021:C:T | P107S | 0.982 |
| 3:179618474:A:C | E134D | 0.982 |
| 3:179618474:A:T | E134D | 0.982 |
| 3:179615030:T:C | F62L | 0.980 |
| 3:179615032:C:A | F62L | 0.980 |
| 3:179615032:C:G | F62L | 0.980 |
| 3:179616011:C:G | P81R | 0.980 |
| 3:179617034:A:T | E111V | 0.980 |
| 3:179617031:G:T | W110L | 0.979 |
| 3:179617032:G:C | W110C | 0.979 |
| 3:179617032:G:T | W110C | 0.979 |
| 3:179616011:C:A | P81Q | 0.978 |
| 3:179618417:T:A | H115Q | 0.978 |
| 3:179618417:T:G | H115Q | 0.978 |
| 3:179616039:T:A | N90K | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000033690 (3:179616149 A>G,T), RS1000149418 (3:179615856 T>C), RS1000396752 (3:179608837 T>A), RS1000456215 (3:179615778 T>C), RS1000504213 (3:179622315 T>C), RS1000536743 (3:179611722 A>G), RS1000599819 (3:179611476 G>A,T), RS1000642297 (3:179605703 A>G), RS1000659402 (3:179623001 G>T), RS1000732963 (3:179605335 AAGACAGGTAATATGT>A), RS1000746439 (3:179609173 G>A,C), RS1001109990 (3:179623681 C>A), RS1001112596 (3:179622651 G>A), RS1001162667 (3:179617100 T>A), RS1001210667 (3:179605477 GT>G)
Disease associations
OMIM: gene MIM:603841 | 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: yes
ChEMBL targets (2): CHEMBL2363065 (PROTEIN COMPLEX), CHEMBL4337 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
8 potent at pChembl≥5 of 20 total, top 8 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.06 | IC50 | 870 | nM | R-(+)-MARMIN-6’-UNDECANOATE |
| 6.04 | IC50 | 920 | nM | R-(+)-MARMIN-6’-LINOLEATE |
| 5.63 | IC50 | 2350 | nM | R-(+)-MARMIN-6’-LINOLEATE |
| 5.51 | IC50 | 3080 | nM | R-(+)-MARMIN-6’-OCTANOATE |
| 5.43 | IC50 | 3670 | nM | R-(+)-MARMIN-6’-UNDECANOATE |
| 5.43 | IC50 | 3710 | nM | R-(+)-MARMIN-6’-OCTANOATE |
| 5.31 | IC50 | 4900 | nM | (+)-9’-ISOVALEROXYLARICIRESINOL |
| 5.04 | IC50 | 9100 | nM | (+)-9’-ISOVALEROXYLARICIRESINOL |
PubChem BioAssay actives
8 with measured affinity, of 30 total; 4 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 |
|---|---|---|---|---|
| [(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] undecanoate | 739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 0.8700 | uM |
| [(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] (9Z,12Z)-octadeca-9,12-dienoate | 739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 0.9200 | uM |
| [(E,3R)-2-hydroxy-2,6-dimethyl-8-(2-oxochromen-7-yl)oxyoct-6-en-3-yl] octanoate | 739270: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 3.0800 | uM |
| [(2S,3R,4R)-2-(4-hydroxy-3-methoxyphenyl)-4-[(4-hydroxy-3-methoxyphenyl)methyl]oxolan-3-yl]methyl 3-methylbutanoate | 739269: Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1,10-phenanthroline-induced HIF1 activation incubated for 30 mins prior to 1,10-phenanthroline-challenge measured after 16 hrs by luciferase reporter assay | ic50 | 4.9000 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Acetaminophen | affects cotreatment, decreases expression, increases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| Arsenic | increases abundance, increases expression, decreases expression, affects cotreatment | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment | 2 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| bufotalin | decreases expression | 1 |
| O,O-diethyl O-3,5,6-trichloro-2-pyridyl phosphate | affects expression, affects response to substance | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| isobutyl alcohol | decreases expression, increases abundance, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chloropicrin | increases expression | 1 |
| corosolic acid | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ethanol | decreases expression, increases abundance, affects cotreatment | 1 |
| Atrazine | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Rotenone | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2353025 | Binding | Inhibition of mitochondrial ETC complex 1 in human T47D cells assessed as inhibition of 1% O2-induced HIF1 activation at 30 uM incubated for 30 mins prior to 1% O2-challenge measured after 16 hrs by luciferase reporter assay | Semisynthetic studies identify mitochondria poisons from botanical dietary supplements–geranyloxycoumarins from Aegle marmelos. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1YF | Abcam HeLa NDUFB5 KO | Cancer cell line | Female |
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.