NDUFS5
gene geneOn this page
Also known as CI-15k
Summary
NDUFS5 (NADH:ubiquinone oxidoreductase subunit S5, HGNC:7712) is a protein-coding gene on chromosome 1p34.3, encoding NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 (O43920). 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: 72.2% of cell lines).
This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17.
Source: NCBI Gene 4725 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 21 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 72.2% of screened cell lines
- MANE Select transcript:
NM_004552
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7712 |
| Approved symbol | NDUFS5 |
| Name | NADH:ubiquinone oxidoreductase subunit S5 |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CI-15k |
| Ensembl gene | ENSG00000168653 |
| Ensembl biotype | protein_coding |
| OMIM | 603847 |
| Entrez | 4725 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 10 protein_coding
ENST00000372967, ENST00000372969, ENST00000926958, ENST00000926959, ENST00000926960, ENST00000926961, ENST00000926962, ENST00000926963, ENST00000926964, ENST00000926965
RefSeq mRNA: 2 — MANE Select: NM_004552
NM_001184979, NM_004552
CCDS: CCDS434
Canonical transcript exons
ENST00000372969 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001459192 | 39028723 | 39028940 |
| ENSE00001459193 | 39026350 | 39026402 |
| ENSE00003849021 | 39034392 | 39034615 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 442.8928 / max 15977.2127, expressed in 1827 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 2257 | 442.8928 | 1827 |
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 | 99.75 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.67 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.66 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.66 | gold quality |
| cardiac atrium | UBERON:0002081 | 99.61 | gold quality |
| cranial nerve II | UBERON:0000941 | 99.60 | gold quality |
| heart | UBERON:0000948 | 99.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 99.58 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 99.53 | gold quality |
| nucleus accumbens | UBERON:0001882 | 99.52 | gold quality |
| caudate nucleus | UBERON:0001873 | 99.50 | gold quality |
| prefrontal cortex | UBERON:0000451 | 99.49 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.49 | gold quality |
| amygdala | UBERON:0001876 | 99.48 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 99.48 | gold quality |
| cingulate cortex | UBERON:0003027 | 99.46 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.46 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 99.46 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 99.45 | gold quality |
| lower esophagus | UBERON:0013473 | 99.45 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.45 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.44 | gold quality |
| muscle of leg | UBERON:0001383 | 99.43 | gold quality |
| stromal cell of endometrium | CL:0002255 | 99.42 | gold quality |
| putamen | UBERON:0001874 | 99.42 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 99.42 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.41 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.41 | gold quality |
| pituitary gland | UBERON:0000007 | 99.38 | gold quality |
| ganglionic eminence | UBERON:0004023 | 99.38 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-36552 | yes | 349.05 |
| E-HCAD-6 | yes | 18.33 |
| E-CURD-122 | yes | 18.23 |
| E-MTAB-7316 | yes | 6.73 |
| E-MTAB-8559 | no | 1189.80 |
| E-CURD-10 | no | 1067.59 |
| E-MTAB-7606 | no | 663.82 |
| E-MTAB-8271 | no | 7.65 |
| E-CURD-114 | no | 7.19 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
11 targeting NDUFS5, 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-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4516 | 99.61 | 67.78 | 3390 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-603 | 98.58 | 68.28 | 1603 |
| HSA-MIR-216B-3P | 98.55 | 67.19 | 1223 |
| HSA-MIR-4773 | 98.35 | 67.30 | 1710 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 72.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- This subunit of complex I is localized in the mitochondrial inter-membrane space. The protein contains intra-molecular disulfide bridges in the twin Cx(9)C motif. Does not contain an Fe-S cluster (despite what’s suggested by the name). (PMID:21310150)
- Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study. (PMID:32138671)
- AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5. (PMID:35859387)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndufs5 | ENSDARG00000006290 |
| mus_musculus | Ndufs5 | ENSMUSG00000028648 |
| rattus_norvegicus | Ndufs5-ps2 | ENSRNOG00000026646 |
| rattus_norvegicus | Ndufs5 | ENSRNOG00000029339 |
| rattus_norvegicus | Ndufs5-ps1 | ENSRNOG00000052764 |
Protein
Protein identifiers
NADH dehydrogenase [ubiquinone] iron-sulfur protein 5 — O43920 (reviewed: O43920)
Alternative names: Complex I-15 kDa, NADH-ubiquinone oxidoreductase 15 kDa subunit
All UniProt accessions (2): O43920, Q6IBA0
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. Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.
Subcellular location. Mitochondrion inner membrane. Mitochondrion intermembrane space.
Domain organisation. Contains two C-X9-C motifs that are predicted to form a helix-coil-helix structure, permitting the formation of intramolecular disulfide bonds.
Similarity. Belongs to the complex I NDUFS5 subunit family.
RefSeq proteins (2): NP_001171908, NP_004543* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR019342 | NADH_UbQ_OxRdtase_FeS-su5 | Family |
Pfam: PF10200
UniProt features (8 total): short sequence motif 2, disulfide bond 2, chain 1, domain 1, region of interest 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-O43920-F1 | 94.51 | 0.91 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (2): 33–66, 43–56
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: 197 (showing top):
MODULE_151, MODULE_77, MORF_HDAC1, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, 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, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS
GO Biological Process (5): mitochondrial electron transport, NADH to ubiquinone (GO:0006120), aerobic respiration (GO:0009060), mitochondrial respiratory chain complex I assembly (GO:0032981), 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): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial intermembrane space (GO:0005758), 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 |
|---|---|
| aerobic electron transport chain | 1 |
| mitochondrial ATP synthesis coupled electron transport | 1 |
| cellular respiration | 1 |
| NADH dehydrogenase complex assembly | 1 |
| mitochondrial respiratory chain complex assembly | 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 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| mitochondrial envelope | 1 |
| organelle envelope lumen | 1 |
| NADH dehydrogenase complex | 1 |
| respiratory chain complex | 1 |
| transmembrane transporter complex | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2000 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDUFS5 | NDUFS1 | P28331 | 903 |
| NDUFS5 | NDUFS6 | O75380 | 894 |
| NDUFS5 | NDUFA5 | Q16718 | 880 |
| NDUFS5 | NDUFS2 | O75306 | 858 |
| NDUFS5 | NDUFS4 | O43181 | 845 |
| NDUFS5 | NDUFS3 | O75489 | 838 |
| NDUFS5 | NDUFA1 | O15239 | 811 |
| NDUFS5 | NDUFA8 | P51970 | 791 |
| NDUFS5 | NDUFB7 | P17568 | 787 |
| NDUFS5 | NDUFB10 | O96000 | 763 |
| NDUFS5 | NDUFA13 | Q9P0J0 | 728 |
| NDUFS5 | NDUFA10 | O95299 | 718 |
| NDUFS5 | NDUFC2 | O95298 | 717 |
| NDUFS5 | NDUFV1 | P49821 | 700 |
| NDUFS5 | NDUFB4 | O95168 | 697 |
IntAct
94 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| NDUFS5 | HTT | psi-mi:“MI:0915”(physical association) | 0.670 |
| NDUFS6 | NDUFS8 | 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 |
| NDUFAF1 | NDUFS5 | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS5 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| NDUFS5 | ARFGAP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NDUFS5 | SGSM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NDUFS5 | SPATS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NDUFS5 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| TIMMDC1 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.530 |
| NDUFS5 | NDUFS4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (225): NDUFS5 (Co-fractionation), ECSIT (Affinity Capture-MS), NDUFAF1 (Affinity Capture-MS), ACAD9 (Affinity Capture-MS), TIMMDC1 (Affinity Capture-MS), NDUFB7 (Affinity Capture-MS), NDUFB9 (Affinity Capture-MS), NDUFAF4 (Affinity Capture-MS), TMEM70 (Affinity Capture-MS), NDUFAF3 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), NDUFA13 (Affinity Capture-MS), NDUFB6 (Affinity Capture-MS), FOXRED1 (Affinity Capture-MS), NDUFV3 (Affinity Capture-MS)
ESM2 similar proteins: A1L3N6, A6ZMQ6, A9ULB4, B3LM82, B5FXK1, C8ZF59, O42921, O43715, O43920, O60200, O94581, P00429, P0CB87, P0CB88, P0CT19, P14854, P48504, P56277, P56391, Q01519, Q02379, Q0MQH3, Q0MQH4, Q0P451, Q208S3, Q28BU7, Q28CA1, Q2NKR3, Q3E7A9, Q3ZCK8, Q4R374, Q4R3M6, Q53CG4, Q5RCT0, Q5RFJ0, Q6DD38, Q6DHJ6, Q6INR6, Q6YFQ2, Q7S4H6
Diamond homologs: O43920, P0CB87, P0CB88, Q02379, Q0MQH3, Q0MQH4, Q4R3M6, Q99LY9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| NDUFS5 | “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 82 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 | 20 | 56.1× | 1e-28 |
| Respiratory electron transport | 19 | 30.6× | 8e-22 |
| Aerobic respiration and respiratory electron transport | 18 | 27.0× | 1e-19 |
| Mitochondrial protein degradation | 5 | 9.7× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| mitochondrial electron transport, NADH to ubiquinone | 15 | 78.0× | 1e-22 |
| mitochondrial respiratory chain complex I assembly | 10 | 59.6× | 1e-13 |
| proton motive force-driven mitochondrial ATP synthesis | 15 | 57.2× | 1e-20 |
| aerobic respiration | 15 | 53.9× | 2e-20 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
291 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:39026400:T:A | donor_loss | 1.0000 |
| 1:39028720:C:G | acceptor_gain | 1.0000 |
| 1:39028721:A:AG | acceptor_gain | 1.0000 |
| 1:39028721:AGCC:A | acceptor_loss | 1.0000 |
| 1:39028722:G:GG | acceptor_gain | 1.0000 |
| 1:39028722:GC:G | acceptor_gain | 1.0000 |
| 1:39028722:GCC:G | acceptor_gain | 1.0000 |
| 1:39028722:GCCA:G | acceptor_gain | 1.0000 |
| 1:39028722:GCCAT:G | acceptor_gain | 1.0000 |
| 1:39028938:ACGG:A | donor_loss | 1.0000 |
| 1:39028940:GGTA:G | donor_loss | 1.0000 |
| 1:39028941:G:A | donor_loss | 1.0000 |
| 1:39028941:G:GG | donor_gain | 1.0000 |
| 1:39028942:T:G | donor_loss | 1.0000 |
| 1:39026397:GG:G | donor_gain | 0.9900 |
| 1:39026398:GG:G | donor_gain | 0.9900 |
| 1:39026399:G:GG | donor_gain | 0.9900 |
| 1:39028707:A:AG | acceptor_gain | 0.9900 |
| 1:39028708:A:G | acceptor_gain | 0.9900 |
| 1:39028716:A:AG | acceptor_gain | 0.9900 |
| 1:39028717:T:G | acceptor_gain | 0.9900 |
| 1:39028719:A:AG | acceptor_gain | 0.9900 |
| 1:39028938:ACG:A | donor_gain | 0.9900 |
| 1:39034387:GACA:G | acceptor_loss | 0.9900 |
| 1:39034388:ACAGA:A | acceptor_loss | 0.9900 |
| 1:39034389:CAG:C | acceptor_loss | 0.9900 |
| 1:39034390:A:AG | acceptor_gain | 0.9900 |
| 1:39034390:AG:A | acceptor_loss | 0.9900 |
| 1:39034390:AGAT:A | acceptor_gain | 0.9900 |
| 1:39034391:G:GA | acceptor_gain | 0.9900 |
AlphaMissense
698 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:39028821:T:A | C33S | 0.988 |
| 1:39028822:G:C | C33S | 0.988 |
| 1:39028890:T:A | C56S | 0.987 |
| 1:39028891:G:C | C56S | 0.987 |
| 1:39028821:T:C | C33R | 0.986 |
| 1:39028830:T:C | F36L | 0.986 |
| 1:39028832:T:A | F36L | 0.986 |
| 1:39028832:T:G | F36L | 0.986 |
| 1:39028842:T:A | W40R | 0.984 |
| 1:39028842:T:C | W40R | 0.984 |
| 1:39028851:T:A | C43S | 0.982 |
| 1:39028852:G:C | C43S | 0.982 |
| 1:39028920:T:C | C66R | 0.981 |
| 1:39028822:G:A | C33Y | 0.978 |
| 1:39028890:T:C | C56R | 0.978 |
| 1:39028891:G:A | C56Y | 0.978 |
| 1:39028892:C:G | C56W | 0.978 |
| 1:39034398:C:A | R75S | 0.978 |
| 1:39028854:G:C | A44P | 0.977 |
| 1:39028910:T:A | D62E | 0.977 |
| 1:39028910:T:G | D62E | 0.977 |
| 1:39028922:T:G | C66W | 0.976 |
| 1:39028851:T:C | C43R | 0.975 |
| 1:39028831:T:G | F36C | 0.974 |
| 1:39028891:G:T | C56F | 0.974 |
| 1:39028823:C:G | C33W | 0.973 |
| 1:39028920:T:A | C66S | 0.973 |
| 1:39028921:G:C | C66S | 0.973 |
| 1:39028822:G:T | C33F | 0.972 |
| 1:39028878:G:C | A52P | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000034728 (1:39031936 T>C), RS1000375737 (1:39025453 C>T), RS1000477408 (1:39028507 T>C), RS1000534158 (1:39028252 T>C), RS1000685340 (1:39025091 G>A), RS1000721152 (1:39034891 G>A,C), RS1001086632 (1:39034560 G>A), RS1001117403 (1:39026742 C>G,T), RS1001364043 (1:39029571 A>G), RS1001581421 (1:39031441 T>G), RS1001725620 (1:39031843 T>C), RS1002063798 (1:39033389 T>C), RS1002121657 (1:39026185 C>G), RS1002432226 (1:39027566 A>G,T), RS1002557754 (1:39025925 T>C)
Disease associations
OMIM: gene MIM:603847 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003475_2 | Beard thickness | 8.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2363065 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
8 potent at pChembl≥5 of 18 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 28 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
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| Acetaminophen | affects cotreatment, decreases expression, affects expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Particulate Matter | decreases expression, increases abundance | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| methylparaben | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| CD 437 | decreases expression | 1 |
| chloropicrin | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| 3-(4’-hydroxy-3’-adamantylbiphenyl-4-yl)acrylic acid | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Doxorubicin | affects expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Isoniazid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Lipopolysaccharides | affects cotreatment, decreases expression | 1 |
| Mitoxantrone | affects response to substance | 1 |
| Phenobarbital | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | affects cotreatment, increases expression | 1 |
| Tunicamycin | decreases expression | 1 |
ChEMBL screening assays
4 unique, capped per target: 4 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 |
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.