TRMT1L
gene geneOn this page
Summary
TRMT1L (tRNA methyltransferase 1L, HGNC:16782) is a protein-coding gene on chromosome 1q25.3, encoding tRNA (guanine(27)-N(2))-dimethyltransferase (Q7Z2T5). Specifically dimethylates a single guanine residue at position 27 of tRNA(Tyr) using S-adenosyl-L-methionine as donor of the methyl groups.
This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene.
Source: NCBI Gene 81627 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 94 total
- Druggable target: yes
- MANE Select transcript:
NM_030934
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16782 |
| Approved symbol | TRMT1L |
| Name | tRNA methyltransferase 1L |
| Location | 1q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000121486 |
| Ensembl biotype | protein_coding |
| OMIM | 611673 |
| Entrez | 81627 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000367506, ENST00000458395, ENST00000465827, ENST00000487028, ENST00000860206, ENST00000860207, ENST00000860208, ENST00000860209, ENST00000913481, ENST00000913482, ENST00000942796
RefSeq mRNA: 2 — MANE Select: NM_030934
NM_001202423, NM_030934
CCDS: CCDS1366
Canonical transcript exons
ENST00000367506 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000822938 | 185137606 | 185137796 |
| ENSE00000822939 | 185139367 | 185139579 |
| ENSE00000822940 | 185139973 | 185140222 |
| ENSE00000922197 | 185143357 | 185143436 |
| ENSE00000922198 | 185143906 | 185144029 |
| ENSE00001597691 | 185118101 | 185120271 |
| ENSE00001814009 | 185156478 | 185156953 |
| ENSE00003462891 | 185128669 | 185128747 |
| ENSE00003540966 | 185124944 | 185125110 |
| ENSE00003553794 | 185147182 | 185147246 |
| ENSE00003562080 | 185151825 | 185151935 |
| ENSE00003617390 | 185120383 | 185120509 |
| ENSE00003625965 | 185150379 | 185150492 |
| ENSE00003645260 | 185123857 | 185123919 |
| ENSE00003686644 | 185145439 | 185145568 |
Expression profiles
Bgee: expression breadth ubiquitous, 279 present calls, max score 93.51.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.5218 / max 100.4753, expressed in 1782 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 16291 | 9.3801 | 1780 |
| 16290 | 0.1417 | 46 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| bronchial epithelial cell | CL:0002328 | 93.51 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.70 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.33 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.96 | gold quality |
| bronchus | UBERON:0002185 | 90.73 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 90.67 | gold quality |
| biceps brachii | UBERON:0001507 | 90.64 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 89.70 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 89.45 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.18 | gold quality |
| testis | UBERON:0000473 | 88.76 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.76 | gold quality |
| left testis | UBERON:0004533 | 88.76 | gold quality |
| caput epididymis | UBERON:0004358 | 88.68 | gold quality |
| right testis | UBERON:0004534 | 88.59 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.08 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.53 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.44 | gold quality |
| muscle of leg | UBERON:0001383 | 87.38 | gold quality |
| muscle organ | UBERON:0001630 | 87.23 | gold quality |
| vastus lateralis | UBERON:0001379 | 87.16 | gold quality |
| endothelial cell | CL:0000115 | 87.06 | gold quality |
| secondary oocyte | CL:0000655 | 86.71 | gold quality |
| quadriceps femoris | UBERON:0001377 | 86.68 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 86.61 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.53 | gold quality |
| stromal cell of endometrium | CL:0002255 | 86.23 | gold quality |
| calcaneal tendon | UBERON:0003701 | 85.98 | gold quality |
| amniotic fluid | UBERON:0000173 | 85.92 | gold quality |
| corpus epididymis | UBERON:0004359 | 85.59 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.30 |
| E-GEOD-100618 | no | 89.94 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
91 targeting TRMT1L, 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-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
Literature-anchored findings (GeneRIF, showing 2)
- Includes the identification of the C1orf25 gene. (PMID:11318611)
- Functional characterization of the mouse C1orf25 ortholog and comparison to the human protein. (PMID:17198746)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | trmt1l | ENSDARG00000042057 |
| mus_musculus | Trmt1l | ENSMUSG00000053286 |
| rattus_norvegicus | Trmt1l | ENSRNOG00000002580 |
Paralogs (1): TRMT1 (ENSG00000104907)
Protein
Protein identifiers
tRNA (guanine(27)-N(2))-dimethyltransferase — Q7Z2T5 (reviewed: Q7Z2T5)
Alternative names: tRNA methyltransferase 1-like protein
All UniProt accessions (2): Q7Z2T5, X6RK96
UniProt curated annotations — full annotation on UniProt →
Function. Specifically dimethylates a single guanine residue at position 27 of tRNA(Tyr) using S-adenosyl-L-methionine as donor of the methyl groups. Dimethylation at position 27 of tRNA(Tyr) is required for efficient translation of tyrosine codons. Also required to maintain 3-(3-amino-3-carboxypropyl)uridine (acp3U) in the D-loop of several cytoplasmic tRNAs.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Widely expressed.
Similarity. Belongs to the class I-like SAM-binding methyltransferase superfamily. Trm1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z2T5-1 | 1 | yes |
| Q7Z2T5-2 | 2 |
RefSeq proteins (2): NP_001189352, NP_112196* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002905 | Trm1 | Family |
| IPR013087 | Znf_C2H2_type | Domain |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR042296 | tRNA_met_Trm1_C | Homologous_superfamily |
Pfam: PF02005
Catalyzed reactions (Rhea), 1 shown:
- guanosine(27) in tRNA(Tyr) + 2 S-adenosyl-L-methionine = N(2)-dimethylguanosine(27) in tRNA(Tyr) + 2 S-adenosyl-L-homocysteine + 2 H(+) (RHEA:83895)
UniProt features (28 total): binding site 8, modified residue 4, compositionally biased region 3, splice variant 2, mutagenesis site 2, sequence conflict 2, chain 1, domain 1, zinc finger region 1, cross-link 1, sequence variant 1, region of interest 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z2T5-F1 | 73.62 | 0.50 |
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 (8): 357; 358; 488; 491; 513; 515; 260; 307
Post-translational modifications (5): 26, 66, 612, 707, 585
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 135–139 | abolished nucleolar localization. |
| 373 | abolished trna guanine-dimethyltransferase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 128 (showing top):
TGCGCANK_UNKNOWN, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, RACCACAR_AML_Q6, GOBP_RNA_METHYLATION, PATIL_LIVER_CANCER, TCF4_Q5, GOBP_RNA_MODIFICATION, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_TRNA_METHYLATION, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, AML1_01, RGAGGAARY_PU1_Q6, ACEVEDO_LIVER_CANCER_UP
GO Biological Process (3): tRNA N2-guanine methylation (GO:0002940), tRNA processing (GO:0008033), methylation (GO:0032259)
GO Molecular Function (9): tRNA binding (GO:0000049), RNA binding (GO:0003723), zinc ion binding (GO:0008270), tRNA (guanine(27)-N2)-dimethyltransferase activity (GO:0160248), protein binding (GO:0005515), methyltransferase activity (GO:0008168), tRNA (guanine) methyltransferase activity (GO:0016423), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (2): nucleus (GO:0005634), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA methylation | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| metabolic process | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| N-methyltransferase activity | 1 |
| tRNA (guanine) methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| tRNA methyltransferase activity | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRMT1L | CCDC90B | Q9GZT6 | 557 |
| TRMT1L | THUMPD2 | Q9BTF0 | 539 |
| TRMT1L | SWT1 | Q5T5J6 | 520 |
| TRMT1L | METTL1 | Q9UBP6 | 509 |
| TRMT1L | FTSJ1 | Q9UET6 | 495 |
| TRMT1L | MRM3 | Q9HC36 | 464 |
| TRMT1L | IVNS1ABP | Q9Y6Y0 | 459 |
| TRMT1L | ZNF574 | Q6ZN55 | 451 |
| TRMT1L | NSUN2 | Q08J23 | 448 |
| TRMT1L | TPK1 | Q9H3S4 | 447 |
| TRMT1L | TRMT1 | Q9NXH9 | 443 |
| TRMT1L | TRMT11 | Q7Z4G4 | 441 |
| TRMT1L | FTCD | O95954 | 441 |
| TRMT1L | TRMT2B | Q96GJ1 | 441 |
| TRMT1L | TMX1 | Q9H3N1 | 430 |
IntAct
156 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR3GL | POLR3A | psi-mi:“MI:0914”(association) | 0.730 |
| HSPD1 | NUDT19 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| MAPK7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR3K | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| TRMT1L | GTF2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLEKHO1 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB2 | POLRMT | psi-mi:“MI:0914”(association) | 0.530 |
| HEATR3 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| ZSCAN31 | DHX57 | psi-mi:“MI:0914”(association) | 0.530 |
| ABT1 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| FOXM1 | PES1 | psi-mi:“MI:0914”(association) | 0.500 |
| TRMT1L | HNRNPK | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Srp72 | psi-mi:“MI:0914”(association) | 0.350 | |
| Rrbp1 | PIPSL | psi-mi:“MI:0914”(association) | 0.350 |
| PKN2 | TMUB1 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPU | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (241): TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), NTPCR (Co-fractionation), TCEA1 (Co-fractionation), TRMT1L (Co-fractionation), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS), TRMT1L (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IXF6, A0A1L8HU22, A0JMD0, A0JMU5, A2RSY6, A5D7S3, A5WW08, A6NNW6, A9LLI8, E9PUQ8, F1LW30, F4HS99, O75460, P0C218, P26374, P79457, Q12789, Q16760, Q1LWH4, Q2I6J1, Q2T9V5, Q3B7T1, Q3KR54, Q496Z9, Q4R6C7, Q5FWP4, Q5R5T0, Q5ZLG9, Q64398, Q6GQV7, Q6NVF4, Q6NZP1, Q6P2P2, Q6P5D8, Q6PJI9, Q6UXZ4, Q7Z2T5, Q7ZXF1, Q8C0M0, Q8C5W4
Diamond homologs: A1RV26, A2SRK9, A3CW75, A3MTQ5, A4FZY5, A4WMB7, A4YHH9, A5D7S3, A5UM08, A6UUN6, A6VIL5, A7I9E9, A9A871, B0R713, B1YCV9, B6YUU9, B8GF12, B9LSI7, C3MPR5, C3MYQ9, C3N5E1, C3NDZ5, C3NHQ8, C4KH07, C5A6N2, O27258, O29443, O59493, O67010, P0CW64, P0CW65, P15565, P20300, P57705, P57706, P81554, Q12Y46, Q18EA0, Q2FN43, Q2NI56
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 190 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 |
|---|---|---|---|
| RNA Polymerase III Chain Elongation | 12 | 53.2× | 1e-16 |
| RNA Polymerase III Transcription Termination | 12 | 41.7× | 1e-15 |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | 13 | 38.5× | 6e-16 |
| RNA Polymerase III Transcription Initiation From Type 1 Promoter | 13 | 37.1× | 6e-16 |
| RNA Polymerase III Transcription Initiation From Type 3 Promoter | 13 | 37.1× | 6e-16 |
| RNA Polymerase III Transcription Initiation | 13 | 30.5× | 9e-15 |
| RNA Polymerase III Transcription | 13 | 29.7× | 1e-14 |
| Cytosolic sensors of pathogen-associated DNA | 13 | 25.9× | 7e-14 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transcription by RNA polymerase III | 5 | 21.8× | 5e-04 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 21.8× | 5e-04 |
| ribosomal large subunit biogenesis | 8 | 20.2× | 1e-06 |
| cytoplasmic translation | 18 | 18.9× | 3e-15 |
| DNA damage checkpoint signaling | 5 | 11.1× | 7e-03 |
| translation | 18 | 10.5× | 6e-11 |
| ribosomal small subunit biogenesis | 8 | 10.3× | 2e-04 |
| rRNA processing | 12 | 9.7× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
94 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 76 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2366 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:185120267:TTAAC:T | acceptor_gain | 1.0000 |
| 1:185120268:TAAC:T | acceptor_gain | 1.0000 |
| 1:185120270:ACCT:A | acceptor_loss | 1.0000 |
| 1:185120271:CCT:C | acceptor_loss | 1.0000 |
| 1:185120272:C:CC | acceptor_gain | 1.0000 |
| 1:185120272:C:T | acceptor_loss | 1.0000 |
| 1:185120381:A:AC | donor_gain | 1.0000 |
| 1:185120382:C:CC | donor_gain | 1.0000 |
| 1:185123853:ATACC:A | donor_loss | 1.0000 |
| 1:185123854:TA:T | donor_loss | 1.0000 |
| 1:185123855:A:C | donor_loss | 1.0000 |
| 1:185123856:C:G | donor_loss | 1.0000 |
| 1:185123917:CTT:C | acceptor_gain | 1.0000 |
| 1:185123920:C:CC | acceptor_gain | 1.0000 |
| 1:185123927:A:AC | acceptor_gain | 1.0000 |
| 1:185123927:A:C | acceptor_gain | 1.0000 |
| 1:185123933:C:CT | acceptor_gain | 1.0000 |
| 1:185123934:A:T | acceptor_gain | 1.0000 |
| 1:185124197:G:C | donor_gain | 1.0000 |
| 1:185124202:A:AC | donor_gain | 1.0000 |
| 1:185124203:C:CC | donor_gain | 1.0000 |
| 1:185124939:GTCAC:G | donor_loss | 1.0000 |
| 1:185124942:A:AC | donor_loss | 1.0000 |
| 1:185124943:C:CT | donor_loss | 1.0000 |
| 1:185124943:CCTTG:C | donor_gain | 1.0000 |
| 1:185124984:A:AC | donor_gain | 1.0000 |
| 1:185124985:C:CC | donor_gain | 1.0000 |
| 1:185124997:CACT:C | donor_gain | 1.0000 |
| 1:185125106:TTGAC:T | acceptor_gain | 1.0000 |
| 1:185125109:ACCT:A | acceptor_loss | 1.0000 |
AlphaMissense
4825 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:185120194:C:G | R676P | 1.000 |
| 1:185120195:G:T | R676S | 1.000 |
| 1:185120201:C:G | G674R | 1.000 |
| 1:185128678:C:T | G528E | 1.000 |
| 1:185128679:C:G | G528R | 1.000 |
| 1:185128679:C:T | G528R | 1.000 |
| 1:185128718:A:G | C515R | 1.000 |
| 1:185128722:A:C | C513W | 1.000 |
| 1:185128723:C:T | C513Y | 1.000 |
| 1:185128724:A:G | C513R | 1.000 |
| 1:185137637:T:A | R494S | 1.000 |
| 1:185137637:T:G | R494S | 1.000 |
| 1:185137646:A:C | C491W | 1.000 |
| 1:185137647:C:A | C491F | 1.000 |
| 1:185137647:C:G | C491S | 1.000 |
| 1:185137647:C:T | C491Y | 1.000 |
| 1:185137648:A:G | C491R | 1.000 |
| 1:185137648:A:T | C491S | 1.000 |
| 1:185137655:A:C | C488W | 1.000 |
| 1:185137656:C:A | C488F | 1.000 |
| 1:185137656:C:G | C488S | 1.000 |
| 1:185137656:C:T | C488Y | 1.000 |
| 1:185137657:A:G | C488R | 1.000 |
| 1:185137657:A:T | C488S | 1.000 |
| 1:185139487:T:A | D401V | 1.000 |
| 1:185120158:A:G | L688P | 0.999 |
| 1:185120170:A:G | F684S | 0.999 |
| 1:185120185:G:T | A679E | 0.999 |
| 1:185120195:G:C | R676G | 0.999 |
| 1:185120200:C:T | G674D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000010247 (1:185131643 C>A), RS1000038501 (1:185157720 T>C), RS1000112858 (1:185158068 A>G), RS1000138030 (1:185157436 C>T), RS1000291428 (1:185119045 T>C), RS1000347798 (1:185152171 T>C), RS1000425304 (1:185145669 T>C), RS1000426905 (1:185139661 A>C,G), RS1000540831 (1:185133710 G>A), RS1000741394 (1:185118723 T>C), RS1000770141 (1:185126697 C>T), RS1000772306 (1:185118467 A>C), RS1000831688 (1:185132434 G>A), RS1000849668 (1:185147654 C>T), RS1000971544 (1:185140359 C>A,T)
Disease associations
OMIM: gene MIM:611673 | 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 |
|---|---|---|
| GCST005830_34 | Hand grip strength | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006941 | grip strength measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066260 (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 |
|---|---|---|---|---|
| 7.81 | Kd | 15.36 | nM | CHEMBL5653589 |
| 7.81 | ED50 | 15.36 | 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 | 2149661: Binding affinity to human TRMT1L incubated for 45 mins by Kinobead based pull down assay | kd | 0.0154 | uM |
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| trichostatin A | decreases expression, affects cotreatment | 2 |
| mercuric bromide | decreases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| deoxynivalenol | increases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| nivalenol | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2,3,5-(triglutathion-S-yl)hydroquinone | increases ADP-ribosylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL5652703 | Binding | Binding affinity to human TRMT1L 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.