OGFOD1
gene geneOn this page
Also known as KIAA1612FLJ10826TPA1
Summary
OGFOD1 (2-oxoglutarate and iron dependent oxygenase domain containing 1, HGNC:25585) is a protein-coding gene on chromosome 16q13, encoding Prolyl 3-hydroxylase OGFOD1 (Q8N543). Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of ‘Pro-62’ of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency.
Enables peptidyl-proline 3-dioxygenase activity. Involved in several processes, including peptidyl-proline hydroxylation; regulation of translational termination; and stress granule assembly. Located in cytoplasmic stress granule; cytosol; and nucleoplasm.
Source: NCBI Gene 55239 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 48 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_018233
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25585 |
| Approved symbol | OGFOD1 |
| Name | 2-oxoglutarate and iron dependent oxygenase domain containing 1 |
| Location | 16q13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1612, FLJ10826, TPA1 |
| Ensembl gene | ENSG00000087263 |
| Ensembl biotype | protein_coding |
| OMIM | 615857 |
| Entrez | 55239 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 9 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000336111, ENST00000561646, ENST00000562150, ENST00000563733, ENST00000565209, ENST00000565682, ENST00000566157, ENST00000568172, ENST00000568397, ENST00000569645, ENST00000569802, ENST00000877349, ENST00000877350, ENST00000924152, ENST00000924153, ENST00000966422
RefSeq mRNA: 8 — MANE Select: NM_018233
NM_001324357, NM_001324358, NM_001324359, NM_001324360, NM_001324361, NM_001324362, NM_001324363, NM_018233
CCDS: CCDS10761
Canonical transcript exons
ENST00000566157 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001436367 | 56451554 | 56451766 |
| ENSE00002602938 | 56476044 | 56479104 |
| ENSE00003474703 | 56470487 | 56470791 |
| ENSE00003522927 | 56466152 | 56466268 |
| ENSE00003576445 | 56474828 | 56474950 |
| ENSE00003591445 | 56453263 | 56453408 |
| ENSE00003600641 | 56467165 | 56467293 |
| ENSE00003603482 | 56470003 | 56470082 |
| ENSE00003622354 | 56458548 | 56458594 |
| ENSE00003660747 | 56475507 | 56475565 |
| ENSE00003675789 | 56467905 | 56468018 |
| ENSE00003685748 | 56466876 | 56466967 |
| ENSE00003685906 | 56462534 | 56462634 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 96.29.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.0623 / max 199.4382, expressed in 1814 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 154222 | 24.2057 | 1814 |
| 154223 | 0.8566 | 603 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 96.29 | gold quality |
| oocyte | CL:0000023 | 96.06 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.54 | gold quality |
| muscle of leg | UBERON:0001383 | 95.39 | gold quality |
| muscle organ | UBERON:0001630 | 94.41 | gold quality |
| secondary oocyte | CL:0000655 | 94.30 | gold quality |
| biceps brachii | UBERON:0001507 | 93.75 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.71 | gold quality |
| tibialis anterior | UBERON:0001385 | 93.60 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.49 | gold quality |
| deltoid | UBERON:0001476 | 93.02 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 92.31 | gold quality |
| gingival epithelium | UBERON:0001949 | 92.14 | gold quality |
| vastus lateralis | UBERON:0001379 | 92.00 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 91.97 | gold quality |
| stromal cell of endometrium | CL:0002255 | 91.91 | gold quality |
| quadriceps femoris | UBERON:0001377 | 91.85 | gold quality |
| adrenal gland | UBERON:0002369 | 91.46 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.30 | gold quality |
| islet of Langerhans | UBERON:0000006 | 91.18 | gold quality |
| right adrenal gland | UBERON:0001233 | 91.09 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.09 | gold quality |
| left adrenal gland | UBERON:0001234 | 91.08 | gold quality |
| endometrium | UBERON:0001295 | 90.86 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.84 | gold quality |
| adrenal cortex | UBERON:0001235 | 90.76 | gold quality |
| muscle tissue | UBERON:0002385 | 90.58 | gold quality |
| gingiva | UBERON:0001828 | 90.57 | gold quality |
| popliteal artery | UBERON:0002250 | 90.32 | gold quality |
| tibial artery | UBERON:0007610 | 90.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
45 targeting OGFOD1, 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-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-3689A-3P | 99.70 | 65.73 | 2306 |
| HSA-MIR-3689B-3P | 99.70 | 65.71 | 2311 |
| HSA-MIR-3689C | 99.70 | 65.71 | 2311 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-516B-5P | 99.56 | 66.33 | 1495 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-1224-5P | 99.48 | 65.59 | 803 |
| HSA-MIR-889-5P | 99.41 | 68.75 | 1025 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
| HSA-MIR-4263 | 99.18 | 69.25 | 2236 |
Literature-anchored findings (GeneRIF, showing 7)
- Data suggest that OGFOD1 plays important proapoptotic roles in the regulation of translation and HRI-mediated phosphorylation of eIF2alpha in cells subjected to arsenite-induced stress. (PMID:20154146)
- OGFOD1 plays an important role in ischemic cell survival and an OGFOD1 iron binding residue is required for ATPAF1 gene expression. (PMID:20579638)
- OGFOD1 catalyzes prolyl hydroxylation of RPS23 and is involved in translation control and stress granule formation. (PMID:24550447)
- Propose that OGFOD1 is required for breast cancer cell proliferation and is associated with poor prognosis in breast cancer. (PMID:25909288)
- The ribosomal prolyl-hydroxylase OGFOD1 decreases during cardiac differentiation and modulates translation and splicing. (PMID:31112528)
- High OGFOD1 expression is associated with papillomavirus-infected laryngeal papillomas. (PMID:32002629)
- OGFOD1 modulates the transcriptional and proteomic landscapes to alter isoproterenol-induced hypertrophy susceptibility. (PMID:37084634)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ogfod1 | ENSDARG00000036061 |
| mus_musculus | Ogfod1 | ENSMUSG00000033009 |
| rattus_norvegicus | Ogfod1 | ENSRNOG00000019288 |
| drosophila_melanogaster | sud1 | FBGN0265189 |
| caenorhabditis_elegans | WBGENE00015915 |
Protein
Protein identifiers
Prolyl 3-hydroxylase OGFOD1 — Q8N543 (reviewed: Q8N543)
Alternative names: 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1, Termination and polyadenylation 1 homolog, uS12 prolyl 3-hydroxylase
All UniProt accessions (7): Q8N543, A0A0A0MTR2, H3BP48, H3BR02, H3BR79, H3BUA6, J3KNR5
UniProt curated annotations — full annotation on UniProt →
Function. Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of ‘Pro-62’ of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation.
Subunit / interactions. Monomer.
Subcellular location. Cytoplasm. Nucleus Cytoplasm.
Cofactor. Binds 1 Fe(2+) ion per subunit.
Similarity. Belongs to the TPA1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N543-1 | 1 | yes |
| Q8N543-2 | 2 |
RefSeq proteins (8): NP_001311286, NP_001311287, NP_001311288, NP_001311289, NP_001311290, NP_001311291, NP_001311292, NP_060703* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005123 | Oxoglu/Fe-dep_dioxygenase_dom | Domain |
| IPR006620 | Pro_4_hyd_alph | Domain |
| IPR019601 | Oxoglutarate/Fe-dep_Oase_C | Domain |
| IPR039558 | TPA1/OFD1_N | Domain |
| IPR051842 | uS12_prolyl_hydroxylase | Family |
Pfam: PF10637, PF13661
Catalyzed reactions (Rhea), 1 shown:
- [ribosomal protein uS12]-L-proline + 2-oxoglutarate + O2 = [ribosomal protein uS12]-(3S)-3-hydroxy-L-proline + succinate + CO2 (RHEA:54156)
UniProt features (56 total): strand 22, helix 16, binding site 5, sequence conflict 3, mutagenesis site 2, chain 1, domain 1, splice variant 1, sequence variant 1, region of interest 1, short sequence motif 1, compositionally biased region 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4NHX | X-RAY DIFFRACTION | 2.1 |
| 4NHY | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N543-F1 | 87.41 | 0.77 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (5): 155; 157; 169; 218; 230
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 155 | loss of function. |
| 157 | loss of function. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9629569 | Protein hydroxylation |
MSigDB gene sets: 142 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, RORA1_01, GOBP_TRANSLATIONAL_TERMINATION, GOBP_TRANSLATION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, MCCABE_HOXC6_TARGETS_CANCER_DN, GOBP_ORGANELLE_ASSEMBLY, GOBP_PEPTIDYL_PROLINE_MODIFICATION, GCM_NF2, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOBP_PROTEIN_HYDROXYLATION
GO Biological Process (5): regulation of translational termination (GO:0006449), cell population proliferation (GO:0008283), protein hydroxylation (GO:0018126), peptidyl-proline hydroxylation (GO:0019511), stress granule assembly (GO:0034063)
GO Molecular Function (10): iron ion binding (GO:0005506), L-ascorbic acid binding (GO:0031418), peptidyl-proline dioxygenase activity (GO:0031543), peptidyl-proline 3-dioxygenase activity (GO:0031544), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705), 2-oxoglutarate-dependent dioxygenase activity (GO:0016706), metal ion binding (GO:0046872), dioxygenase activity (GO:0051213)
GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), cytoplasmic stress granule (GO:0010494), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| oxidoreductase activity | 2 |
| translational termination | 1 |
| regulation of translation | 1 |
| regulation of protein-containing complex disassembly | 1 |
| cellular process | 1 |
| protein modification process | 1 |
| protein hydroxylation | 1 |
| peptidyl-proline modification | 1 |
| membraneless organelle assembly | 1 |
| transition metal ion binding | 1 |
| vitamin binding | 1 |
| carboxylic acid binding | 1 |
| monosaccharide binding | 1 |
| heterocyclic compound binding | 1 |
| 2-oxoglutarate-dependent dioxygenase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidyl-proline dioxygenase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | 1 |
| dioxygenase activity | 1 |
| cation binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1762 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| OGFOD1 | PABPC1 | P11940 | 736 |
| OGFOD1 | RPS23 | P39028 | 720 |
| OGFOD1 | CAPRIN1 | Q14444 | 698 |
| OGFOD1 | JMJD4 | Q9H9V9 | 679 |
| OGFOD1 | PABIR1 | Q96E09 | 607 |
| OGFOD1 | RIOX2 | Q8IUF8 | 604 |
| OGFOD1 | G3BP1 | Q13283 | 587 |
| OGFOD1 | RIOX1 | Q9H6W3 | 582 |
| OGFOD1 | OGFOD2 | Q6N063 | 558 |
| OGFOD1 | TRMT1 | Q9NXH9 | 539 |
| OGFOD1 | TYW5 | A2RUC4 | 518 |
| OGFOD1 | PLAT | P00750 | 506 |
| OGFOD1 | A0A0B4J2E5 | A0A0B4J2E5 | 505 |
| OGFOD1 | YBX1 | P16990 | 474 |
| OGFOD1 | RPL27A | P46776 | 470 |
| OGFOD1 | HERPUD2 | Q9BSE4 | 470 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| OGFOD1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| OGFOD1 | RPS23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| OGFOD1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| OGFOD1 | FEM1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPS23 | OGFOD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPATA46 | MDM4 | psi-mi:“MI:0914”(association) | 0.530 |
| FGL1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| FNTA | YKT6 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL42 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| TPRN | PPP1R2 | psi-mi:“MI:0914”(association) | 0.350 |
| BUD13 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SF3B4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SUPV3L1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
| OGFOD1 | FEM1A | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (66): OGFOD1 (Affinity Capture-MS), OGFOD1 (Co-fractionation), OGFOD1 (Affinity Capture-MS), OGFOD1 (Affinity Capture-RNA), OGFOD1 (Positive Genetic), OGFOD1 (Positive Genetic), OGFOD1 (Negative Genetic), OGFOD1 (Negative Genetic), OGFOD1 (Positive Genetic), RPL10 (Negative Genetic), TAF2 (Positive Genetic), TCOF1 (Negative Genetic), TUBGCP3 (Positive Genetic), UBA2 (Positive Genetic), WDR61 (Negative Genetic)
ESM2 similar proteins: A0A1D8PNZ7, A5DMB8, A5DWN5, A5E3J7, A6ZPQ2, A7TNS4, A7TQL5, B3LQ40, C4R3K5, O01658, O13944, O60066, O74270, O94606, P14906, P20485, P32639, P32864, P38254, P38274, P40032, P40360, P43585, P50101, P53255, Q02648, Q02725, Q02959, Q02979, Q03305, Q03648, Q04311, Q06685, Q08972, Q11120, Q4WED9, Q54K96, Q54N08, Q595W7, Q5R4R3
Diamond homologs: P40032, Q01F03, Q11120, Q3U0K8, Q5R4R3, Q6DE73, Q8N543, Q9I7H9, Q3MI03
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1776 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:56451750:G:GT | donor_gain | 1.0000 |
| 16:56453261:A:AG | acceptor_gain | 1.0000 |
| 16:56453262:G:GG | acceptor_gain | 1.0000 |
| 16:56453262:GAA:G | acceptor_gain | 1.0000 |
| 16:56453378:G:GT | donor_gain | 1.0000 |
| 16:56453381:G:GG | donor_gain | 1.0000 |
| 16:56462640:G:GT | donor_gain | 1.0000 |
| 16:56466147:TGCAG:T | acceptor_loss | 1.0000 |
| 16:56466149:CAGAT:C | acceptor_loss | 1.0000 |
| 16:56466150:A:AG | acceptor_gain | 1.0000 |
| 16:56466150:AGAT:A | acceptor_gain | 1.0000 |
| 16:56466151:G:GA | acceptor_gain | 1.0000 |
| 16:56466151:GA:G | acceptor_gain | 1.0000 |
| 16:56466151:GAT:G | acceptor_gain | 1.0000 |
| 16:56466151:GATG:G | acceptor_gain | 1.0000 |
| 16:56466151:GATGC:G | acceptor_gain | 1.0000 |
| 16:56466241:G:GA | donor_gain | 1.0000 |
| 16:56466265:GATG:G | donor_gain | 1.0000 |
| 16:56466267:TGG:T | donor_loss | 1.0000 |
| 16:56466269:G:GC | donor_loss | 1.0000 |
| 16:56466269:G:GG | donor_gain | 1.0000 |
| 16:56466270:T:A | donor_loss | 1.0000 |
| 16:56466274:A:G | donor_gain | 1.0000 |
| 16:56466868:T:TA | acceptor_gain | 1.0000 |
| 16:56466874:A:AG | acceptor_gain | 1.0000 |
| 16:56466875:G:GG | acceptor_gain | 1.0000 |
| 16:56466941:G:GT | donor_gain | 1.0000 |
| 16:56466973:GACT:G | donor_gain | 1.0000 |
| 16:56467290:AGAT:A | donor_gain | 1.0000 |
| 16:56467291:GAT:G | donor_gain | 1.0000 |
AlphaMissense
3645 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:56466962:C:G | H218D | 1.000 |
| 16:56466158:T:C | L152P | 0.999 |
| 16:56466166:C:G | H155D | 0.999 |
| 16:56466172:G:C | D157H | 0.999 |
| 16:56466173:A:C | D157A | 0.999 |
| 16:56466173:A:G | D157G | 0.999 |
| 16:56466173:A:T | D157V | 0.999 |
| 16:56466174:T:A | D157E | 0.999 |
| 16:56466174:T:G | D157E | 0.999 |
| 16:56466187:C:A | R162S | 0.999 |
| 16:56467213:T:A | W236R | 0.999 |
| 16:56467213:T:C | W236R | 0.999 |
| 16:56467215:G:C | W236C | 0.999 |
| 16:56467215:G:T | W236C | 0.999 |
| 16:56453392:T:C | L95S | 0.998 |
| 16:56466158:T:A | L152Q | 0.998 |
| 16:56466168:T:A | H155Q | 0.998 |
| 16:56466168:T:G | H155Q | 0.998 |
| 16:56466188:G:C | R162P | 0.998 |
| 16:56466197:C:A | A165D | 0.998 |
| 16:56466966:A:C | Q219P | 0.998 |
| 16:56467195:C:A | R230S | 0.998 |
| 16:56467211:G:A | G235D | 0.998 |
| 16:56453401:T:C | F98S | 0.997 |
| 16:56458548:T:C | S101P | 0.997 |
| 16:56462622:T:C | Y146H | 0.997 |
| 16:56466163:T:C | C154R | 0.997 |
| 16:56466165:C:G | C154W | 0.997 |
| 16:56466167:A:C | H155P | 0.997 |
| 16:56466179:T:C | L159P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000208322 (16:56458987 G>C), RS1000637675 (16:56466396 T>A,C), RS1000656881 (16:56459201 G>A), RS1000959883 (16:56477496 C>G,T), RS1001246685 (16:56477142 G>A), RS1001878275 (16:56460569 C>T), RS1001881783 (16:56455182 A>C,G), RS1001910439 (16:56467723 G>A,T), RS1002067288 (16:56474187 T>C), RS1002140935 (16:56474446 C>T), RS1002258282 (16:56468080 G>A), RS1002332935 (16:56460920 T>C,G), RS1002481497 (16:56453838 A>T), RS1002543978 (16:56464384 A>G), RS1002987236 (16:56450642 C>G)
Disease associations
OMIM: gene MIM:615857 | 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 (1): CHEMBL4523398 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 533 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL3646221 | VADADUSTAT | 4 | 533 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.85 | IC50 | 1400 | nM | VADADUSTAT |
| 5.68 | IC50 | 2100 | nM | CHEMBL4163812 |
| 5.29 | IC50 | 5100 | nM | CHEMBL3646117 |
PubChem BioAssay actives
5 with measured affinity, of 5 total; 5 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 |
|---|---|---|---|---|
| 2-[(4-hydroxy-1-methyl-7-phenoxyisoquinoline-3-carbonyl)amino]acetic acid | 1543455: Inhibition of recombinant human OGFOD1 using 2OG as substrate and Fe2 as co-factor assessed as hydroxylation incubated for 15 mins in presence of L-ascorbate by MALDI-TOF MS analysis | ic50 | 1.0000 | uM |
| Molidustat | 1543455: Inhibition of recombinant human OGFOD1 using 2OG as substrate and Fe2 as co-factor assessed as hydroxylation incubated for 15 mins in presence of L-ascorbate by MALDI-TOF MS analysis | ic50 | 1.0000 | uM |
| Vadadustat | 1543455: Inhibition of recombinant human OGFOD1 using 2OG as substrate and Fe2 as co-factor assessed as hydroxylation incubated for 15 mins in presence of L-ascorbate by MALDI-TOF MS analysis | ic50 | 1.4000 | uM |
| 2-[(1,3-dicyclohexyl-4-hydroxy-2,6-dioxopyrimidine-5-carbonyl)amino]acetic acid | 1543455: Inhibition of recombinant human OGFOD1 using 2OG as substrate and Fe2 as co-factor assessed as hydroxylation incubated for 15 mins in presence of L-ascorbate by MALDI-TOF MS analysis | ic50 | 2.1000 | uM |
| tert-butyl 6-[3-oxo-4-(triazol-1-yl)-1H-pyrazol-2-yl]pyridine-3-carboxylate | 1543455: Inhibition of recombinant human OGFOD1 using 2OG as substrate and Fe2 as co-factor assessed as hydroxylation incubated for 15 mins in presence of L-ascorbate by MALDI-TOF MS analysis | ic50 | 5.1000 | uM |
CTD chemical–gene interactions
37 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 5 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | decreases expression | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | affects cotreatment, decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Ascorbic Acid | affects cotreatment, decreases expression | 1 |
| Cadmium | increases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Coumestrol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estrogens | decreases reaction, increases expression | 1 |
| Lead | decreases expression | 1 |
| Methotrexate | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Nickel | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Progesterone | increases expression, affects cotreatment | 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 |
|---|---|---|---|
| CHEMBL4340711 | Binding | Inhibition of recombinant human OGFOD1 using 2OG as substrate and Fe2 as co-factor assessed as hydroxylation incubated for 15 mins in presence of L-ascorbate by MALDI-TOF MS analysis | Inhibition of a viral prolyl hydroxylase. — 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.