DTD1
gene geneOn this page
Also known as DUEBMGC119131MGC41905bA379J5.3bA555E18.1pqn-68
Summary
DTD1 (D-aminoacyl-tRNA deacylase 1, HGNC:16219) is a protein-coding gene on chromosome 20p11.23, encoding D-aminoacyl-tRNA deacylase 1 (Q8TEA8). Possible ATPase involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes. It is a selective cancer dependency (DepMap: 56.9% of cell lines).
The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 92675 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 28 total
- Phenotypes (HPO): 4
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 56.9% of screened cell lines
- MANE Select transcript:
NM_080820
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16219 |
| Approved symbol | DTD1 |
| Name | D-aminoacyl-tRNA deacylase 1 |
| Location | 20p11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68 |
| Ensembl gene | ENSG00000125821 |
| Ensembl biotype | protein_coding |
| OMIM | 610996 |
| Entrez | 92675 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay
ENST00000377452, ENST00000494921, ENST00000647441, ENST00000916786, ENST00000916787, ENST00000916788, ENST00000916789
RefSeq mRNA: 2 — MANE Select: NM_080820
NM_001318043, NM_080820
CCDS: CCDS13138, CCDS86938
Canonical transcript exons
ENST00000377452 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001162838 | 18744100 | 18744271 |
| ENSE00001473997 | 18588054 | 18588115 |
| ENSE00003504307 | 18596006 | 18596241 |
| ENSE00003658417 | 18593731 | 18593821 |
| ENSE00003826816 | 18628127 | 18628233 |
| ENSE00003899205 | 18763360 | 18766644 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 95.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.1644 / max 187.9243, expressed in 1816 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183697 | 19.5516 | 1795 |
| 183696 | 12.5896 | 1775 |
| 183695 | 5.1901 | 1641 |
| 183694 | 4.8330 | 1655 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 95.36 | gold quality |
| kidney epithelium | UBERON:0004819 | 95.06 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 94.99 | gold quality |
| endothelial cell | CL:0000115 | 94.66 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 94.45 | gold quality |
| gingiva | UBERON:0001828 | 94.01 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.98 | gold quality |
| pons | UBERON:0000988 | 93.85 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.65 | silver quality |
| upper arm skin | UBERON:0004263 | 92.91 | gold quality |
| tibialis anterior | UBERON:0001385 | 92.48 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 92.24 | gold quality |
| parietal pleura | UBERON:0002400 | 91.83 | gold quality |
| tibia | UBERON:0000979 | 91.77 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 91.71 | gold quality |
| deltoid | UBERON:0001476 | 91.66 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 91.62 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.59 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 91.50 | gold quality |
| visceral pleura | UBERON:0002401 | 91.47 | gold quality |
| synovial joint | UBERON:0002217 | 91.45 | gold quality |
| adult organism | UBERON:0007023 | 90.77 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 90.62 | gold quality |
| ventral tegmental area | UBERON:0002691 | 90.47 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 90.33 | gold quality |
| skin of hip | UBERON:0001554 | 90.32 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 90.31 | gold quality |
| medial globus pallidus | UBERON:0002477 | 90.24 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.16 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 89.95 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 34.53 |
| E-HCAD-6 | yes | 26.50 |
| E-ANND-3 | yes | 7.32 |
| E-MTAB-6524 | no | 188.72 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting DTD1, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-651-5P | 99.64 | 68.49 | 1104 |
| HSA-MIR-4743-3P | 99.62 | 68.12 | 2095 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-302A-5P | 99.39 | 68.21 | 1913 |
| HSA-MIR-584-3P | 99.35 | 67.69 | 1082 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-4796-3P | 99.08 | 68.38 | 1681 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
| HSA-MIR-4536-5P | 98.47 | 64.39 | 657 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-506-5P | 98.02 | 67.41 | 1065 |
| HSA-MIR-5087 | 98.01 | 69.09 | 965 |
| HSA-MIR-4661-3P | 96.81 | 66.02 | 342 |
| HSA-MIR-342-3P | 96.44 | 67.48 | 1344 |
| HSA-MIR-4694-5P | 94.62 | 65.39 | 532 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 56.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- cloning and identification of novel cDNA which may be associated with FKBP25 (PMID:12392168)
- DUE-B, a c-myc DNA-unwinding element-binding protein, plays an important role in replication in vivo. (PMID:15653697)
- The coordinated binding of DUE-B and Cdc45 to origins and the physical interactions of DUE-B, Cdc45, and TopBP1 suggest that complexes of these proteins are necessary for replication initiation. (PMID:20065034)
- DTD1 variants do not affect the abnormalities of the upper airways in aspirin-intolerant asthma patients (PMID:21479357)
- LDI-PCR revealed a fusion between DTD1 exon 4 and PDGFRB exon 12 in the cases with t(5;14)(q33;q32) and t(5;20)(q33;p11). (PMID:24772479)
- The state of DUE-B phosphorylation is maintained by the equilibrium between Cdc7-dependent phosphorylation and PP2A-dependent dephosphorylation. (PMID:25258324)
- results suggest that DUE-B acts to identify origins by MCM binding and serves as a node for replication protein recruitment and Cdc45 transfer to the prereplication complex (PMID:30037903)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dtd1 | ENSDARG00000044628 |
| mus_musculus | Dtd1 | ENSMUSG00000027430 |
| rattus_norvegicus | Dtd1 | ENSRNOG00000008746 |
| drosophila_melanogaster | Dtd | FBGN0037898 |
| caenorhabditis_elegans | WBGENE00004151 |
Paralogs (1): DTD2 (ENSG00000129480)
Protein
Protein identifiers
D-aminoacyl-tRNA deacylase 1 — Q8TEA8 (reviewed: Q8TEA8)
Alternative names: DNA-unwinding element-binding protein B, Gly-tRNA(Ala) deacylase, Histidyl-tRNA synthase-related
All UniProt accessions (3): Q8TEA8, A0A2R8Y6X2, A0A2R8YCT7
UniProt curated annotations — full annotation on UniProt →
Function. Possible ATPase involved in DNA replication, may facilitate loading of CDC45 onto pre-replication complexes. An aminoacyl-tRNA editing enzyme that deacylates mischarged D-aminoacyl-tRNAs. Also deacylates mischarged glycyl-tRNA(Ala), protecting cells against glycine mischarging by AlaRS. Acts via tRNA-based rather than protein-based catalysis; rejects L-amino acids rather than detecting D-amino acids in the active site. By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality.
Subunit / interactions. Homodimer. Interacts with CDC45 and TOPBP1.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in many adult and fetal tissues. Highest levels in testis, ovary, spleen and in adult and fetal brain.
Post-translational modifications. Preferentially phosphorylated in cells arrested early in S phase. Phosphorylation in the C-terminus weakens the interaction with CDC45.
Domain organisation. A Gly-cisPro motif from one monomer fits into the active site of the other monomer to allow specific chiral rejection of L-amino acids.
Similarity. Belongs to the DTD family.
RefSeq proteins (2): NP_001304972, NP_543010* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003732 | Daa-tRNA_deacyls_DTD | Family |
| IPR023509 | DTD-like_sf | Homologous_superfamily |
Pfam: PF02580
Catalyzed reactions (Rhea), 2 shown:
- a D-aminoacyl-tRNA + H2O = a tRNA + a D-alpha-amino acid + H(+) (RHEA:13953)
- glycyl-tRNA(Ala) + H2O = tRNA(Ala) + glycine + H(+) (RHEA:53744)
UniProt features (24 total): strand 6, helix 5, modified residue 3, binding site 3, sequence conflict 2, compositionally biased region 2, chain 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2OKV | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TEA8-F1 | 86.04 | 0.71 |
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 (3): 4; 6; 28
Post-translational modifications (3): 205, 197, 204
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 289 (showing top):
GOBP_AMINO_ACID_ACTIVATION, MORF_MBD4, YAGI_AML_WITH_INV_16_TRANSLOCATION, MORF_RAB5A, PAL_PRMT5_TARGETS_UP, LFA1_Q6, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MITOCHONDRIAL_TRANSLATION, MORF_PSMC2, GOBP_TRANSLATION, MORF_SKP1A, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MORF_ATOX1
GO Biological Process (3): DNA replication (GO:0006260), tRNA metabolic process (GO:0006399), aminoacyl-tRNA metabolism involved in translational fidelity (GO:0106074)
GO Molecular Function (9): tRNA binding (GO:0000049), DNA binding (GO:0003677), metal ion binding (GO:0046872), D-tyrosyl-tRNA(Tyr) deacylase activity (GO:0051500), Gly-tRNA(Ala) deacylase activity (GO:0106026), aminoacyl-tRNA deacylase activity (GO:0002161), RNA binding (GO:0003723), hydrolase activity (GO:0016787), D-aminoacyl-tRNA deacylase activity (GO:0051499)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 2 |
| aminoacyl-tRNA deacylase activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| RNA metabolic process | 1 |
| tRNA metabolic process | 1 |
| regulation of translational fidelity | 1 |
| RNA binding | 1 |
| cation binding | 1 |
| D-aminoacyl-tRNA deacylase activity | 1 |
| carboxylic ester hydrolase activity | 1 |
| aminoacyl-tRNA metabolism involved in translational fidelity | 1 |
| catalytic activity, acting on a tRNA | 1 |
| deacylase activity | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
278 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DTD1 | DTD2 | Q96FN9 | 792 |
| DTD1 | YARS1 | P54577 | 458 |
| DTD1 | TARS3 | A2RTX5 | 435 |
| DTD1 | YARS2 | Q9Y2Z4 | 434 |
| DTD1 | TARS2 | Q9BW92 | 426 |
| DTD1 | TARS1 | P26639 | 417 |
| DTD1 | DAO | P14920 | 349 |
| DTD1 | GATC | O43716 | 348 |
| DTD1 | ANKRD16 | Q6P6B7 | 331 |
| DTD1 | GARS1 | P41250 | 303 |
| DTD1 | FARS2 | O95363 | 295 |
| DTD1 | EARS2 | Q5JPH6 | 295 |
| DTD1 | AARS1 | P49588 | 281 |
| DTD1 | MARS1 | P56192 | 266 |
| DTD1 | IARS2 | Q9NSE4 | 261 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| sseJ | AGPS | psi-mi:“MI:0914”(association) | 0.460 |
| DTD1 | POLK | psi-mi:“MI:0915”(physical association) | 0.400 |
| GNAT3 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| NEK2 | DTD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NEK2 | DPP9 | psi-mi:“MI:0914”(association) | 0.350 |
| DISC1 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| CLIC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| IQCB1 | PCP4L1 | psi-mi:“MI:0914”(association) | 0.350 |
| DTD1 | PLS1 | psi-mi:“MI:0914”(association) | 0.350 |
| DTD1 | TNNC2 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| VCP | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): DTD1 (Affinity Capture-MS), CSNK1E (Co-fractionation), DTD1 (Co-fractionation), DTD1 (Co-fractionation), DTD1 (Co-fractionation), DTD1 (Affinity Capture-MS), POLK (Affinity Capture-MS), DTD1 (PCA), DTD1 (Reconstituted Complex), DTD1 (Biochemical Activity), DTD1 (Proximity Label-MS), DTD1 (Biochemical Activity), PLS1 (Affinity Capture-MS), CAMKV (Affinity Capture-MS), DTD1 (Affinity Capture-MS)
ESM2 similar proteins: A0A2B4SJZ1, A3RM20, A4UHP9, C4QX11, F1QGC8, F4J1G1, O56773, O56774, O59835, P03502, P06747, P08013, P0C569, P0DQH9, P12592, P12596, P12598, P12600, P12601, P12602, P13776, P13778, P13781, P16286, P34566, P69253, P69254, P69255, P69256, P69479, P69480, Q0GBX8, Q0GBY3, Q11125, Q1PUD3, Q2U600, Q30NP5, Q5PQ44, Q5UP51, Q5VKP5
Diamond homologs: A0PZW6, A0RJ14, A3CKK5, A3DF46, A4IR99, A4XI81, A5FMN0, A5FSN9, A5I6D9, A5N1Z2, A5UW19, A5VJG2, A6GW89, A6LG62, A6LML3, A7FY07, A7GHS6, A7NLC3, A9BIE9, A9VIN2, B0K0N1, B0K971, B0S1I7, B1I337, B1IME1, B1L0A0, B1L7X6, B1XM75, B2G6X7, B2GBW6, B2TN01, B2V347, B3QL07, B3QTV8, B4S4I3, B4U592, B5YJ89, B6YS15, B7HQG5, B7IDL6
SIGNOR signaling
19 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDC7 | “up-regulates activity” | DTD1 | phosphorylation |
| CSNK2A1 | “up-regulates activity” | DTD1 | phosphorylation |
| DTD1 | “up-regulates activity” | CDC45 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
28 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3403 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:18588111:CACAG:C | donor_loss | 1.0000 |
| 20:18588112:ACAGG:A | donor_loss | 1.0000 |
| 20:18588113:CAGGT:C | donor_loss | 1.0000 |
| 20:18588114:AGGT:A | donor_loss | 1.0000 |
| 20:18588116:G:A | donor_loss | 1.0000 |
| 20:18588117:T:A | donor_loss | 1.0000 |
| 20:18593729:A:AG | acceptor_gain | 1.0000 |
| 20:18593730:G:GG | acceptor_gain | 1.0000 |
| 20:18593822:G:GG | donor_gain | 1.0000 |
| 20:18596004:A:AG | acceptor_gain | 1.0000 |
| 20:18596004:AG:A | acceptor_gain | 1.0000 |
| 20:18596004:AGG:A | acceptor_gain | 1.0000 |
| 20:18596005:G:GA | acceptor_loss | 1.0000 |
| 20:18596005:G:GG | acceptor_gain | 1.0000 |
| 20:18596005:GG:G | acceptor_gain | 1.0000 |
| 20:18596005:GGG:G | acceptor_gain | 1.0000 |
| 20:18596239:AAGG:A | donor_loss | 1.0000 |
| 20:18596240:AGGTA:A | donor_loss | 1.0000 |
| 20:18596241:GGT:G | donor_loss | 1.0000 |
| 20:18596242:GTA:G | donor_loss | 1.0000 |
| 20:18596243:T:G | donor_loss | 1.0000 |
| 20:18628124:CAGA:C | acceptor_loss | 1.0000 |
| 20:18628125:A:AG | acceptor_gain | 1.0000 |
| 20:18628125:A:G | acceptor_loss | 1.0000 |
| 20:18628125:AGAT:A | acceptor_gain | 1.0000 |
| 20:18628126:G:A | acceptor_loss | 1.0000 |
| 20:18628126:G:GA | acceptor_gain | 1.0000 |
| 20:18628126:GA:G | acceptor_gain | 1.0000 |
| 20:18628126:GATG:G | acceptor_gain | 1.0000 |
| 20:18628230:GCAG:G | donor_gain | 1.0000 |
AlphaMissense
1369 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:18596109:T:C | F80L | 0.999 |
| 20:18596111:T:A | F80L | 0.999 |
| 20:18596111:T:G | F80L | 0.999 |
| 20:18593763:G:C | G26R | 0.998 |
| 20:18593769:T:C | C28R | 0.998 |
| 20:18593771:T:G | C28W | 0.998 |
| 20:18596028:C:A | R53S | 0.998 |
| 20:18596095:T:C | L75P | 0.998 |
| 20:18596101:T:A | V77D | 0.998 |
| 20:18596103:A:C | S78R | 0.998 |
| 20:18596105:C:A | S78R | 0.998 |
| 20:18596105:C:G | S78R | 0.998 |
| 20:18628135:T:C | F127L | 0.998 |
| 20:18628137:T:A | F127L | 0.998 |
| 20:18628137:T:G | F127L | 0.998 |
| 20:18628172:G:A | G139E | 0.998 |
| 20:18588103:G:C | A11P | 0.997 |
| 20:18593764:G:A | G26D | 0.997 |
| 20:18593773:T:A | V29E | 0.997 |
| 20:18596034:T:C | F55L | 0.997 |
| 20:18596036:T:A | F55L | 0.997 |
| 20:18596036:T:G | F55L | 0.997 |
| 20:18596097:T:C | C76R | 0.997 |
| 20:18596134:G:A | G88E | 0.997 |
| 20:18628167:T:A | N137K | 0.997 |
| 20:18628167:T:G | N137K | 0.997 |
| 20:18588104:C:A | A11D | 0.996 |
| 20:18593764:G:T | G26V | 0.996 |
| 20:18593782:G:A | G32D | 0.996 |
| 20:18596058:T:A | W63R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000014960 (20:18628389 C>G,T), RS1000024230 (20:18661499 G>A), RS1000024954 (20:18654807 A>T), RS1000078053 (20:18722191 C>G), RS1000095428 (20:18756619 A>C,G), RS1000122722 (20:18681017 C>A), RS1000166181 (20:18750235 C>T), RS1000168033 (20:18670604 C>T), RS1000185722 (20:18664093 G>C), RS1000189736 (20:18736716 A>C,G), RS1000193371 (20:18707376 C>T), RS1000207453 (20:18698147 G>A,T), RS1000209615 (20:18756879 A>G), RS1000259478 (20:18713930 G>A,T), RS1000275338 (20:18622218 T>A)
Disease associations
OMIM: gene MIM:610996 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
4 total (4 of 4 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000141 | Amenorrhea |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0010464 | Streak ovary |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_160 | Night sleep phenotypes | 5.000000e-06 |
| GCST004815_1 | C-reactive protein (red blood cell fatty acid level interaction) | 3.000000e-08 |
| GCST008522_51 | Bitter alcoholic beverage consumption | 5.000000e-07 |
| GCST008811_40 | Alcohol consumption (drinks per week) | 1.000000e-08 |
| GCST009391_1903 | Metabolite levels | 1.000000e-07 |
| GCST009391_1904 | Metabolite levels | 2.000000e-06 |
| GCST012354_54 | Anxiety | 1.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0006810 | oleic acid measurement |
| EFO:0010092 | bitter alcoholic beverage consumption measurement |
| EFO:0010463 | asymmetric dimethylarginine measurement |
| EFO:0009863 | anxiety measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067312 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.70 | Kd | 20.18 | nM | CHEMBL5653589 |
| 7.70 | ED50 | 20.18 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148267: Binding affinity to human DTD1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0202 | uM |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation, affects methylation | 3 |
| Cyclosporine | increases expression | 3 |
| bisphenol A | affects expression, affects cotreatment, increases methylation | 2 |
| Aflatoxin B1 | decreases expression, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Testosterone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651309 | Binding | Binding affinity to human DTD1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.