LCMT1
gene geneOn this page
Also known as CGI-68PPMT1
Summary
LCMT1 (leucine carboxyl methyltransferase 1, HGNC:17557) is a protein-coding gene on chromosome 16p12.1, encoding Leucine carboxyl methyltransferase 1 (Q9UIC8). Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues. It is a selective cancer dependency (DepMap: 31.1% of cell lines).
LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).
Source: NCBI Gene 51451 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 68 total
- Cancer dependency (DepMap): dependent in 31.1% of screened cell lines
- MANE Select transcript:
NM_016309
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17557 |
| Approved symbol | LCMT1 |
| Name | leucine carboxyl methyltransferase 1 |
| Location | 16p12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CGI-68, PPMT1 |
| Ensembl gene | ENSG00000205629 |
| Ensembl biotype | protein_coding |
| OMIM | 610286 |
| Entrez | 51451 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 10 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000380962, ENST00000380966, ENST00000399069, ENST00000564011, ENST00000570981, ENST00000572761, ENST00000572869, ENST00000573435, ENST00000574450, ENST00000575396, ENST00000576382, ENST00000576625, ENST00000577157, ENST00000892900, ENST00000918761, ENST00000918762, ENST00000918763, ENST00000949527
RefSeq mRNA: 2 — MANE Select: NM_016309
NM_001032391, NM_016309
CCDS: CCDS45445, CCDS45446
Canonical transcript exons
ENST00000399069 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001487012 | 25111742 | 25111996 |
| ENSE00003492317 | 25174937 | 25175034 |
| ENSE00003546735 | 25170714 | 25170805 |
| ENSE00003547727 | 25164598 | 25164718 |
| ENSE00003555731 | 25161102 | 25161204 |
| ENSE00003559956 | 25128475 | 25128566 |
| ENSE00003559964 | 25169112 | 25169213 |
| ENSE00003571132 | 25151554 | 25151615 |
| ENSE00003640017 | 25140171 | 25140247 |
| ENSE00003674688 | 25132402 | 25132523 |
| ENSE00003690310 | 25178001 | 25178228 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 96.49.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.6911 / max 165.9154, expressed in 1817 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153266 | 18.4902 | 1809 |
| 153267 | 13.4836 | 1787 |
| 153265 | 0.5800 | 328 |
| 153268 | 0.1373 | 65 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 96.49 | gold quality |
| body of pancreas | UBERON:0001150 | 95.22 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.18 | gold quality |
| oocyte | CL:0000023 | 94.98 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.98 | gold quality |
| cortical plate | UBERON:0005343 | 94.84 | gold quality |
| right frontal lobe | UBERON:0002810 | 94.83 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.80 | gold quality |
| pons | UBERON:0000988 | 94.70 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 94.65 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 94.63 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.60 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.51 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.45 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 94.43 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.27 | gold quality |
| neocortex | UBERON:0001950 | 94.20 | gold quality |
| frontal cortex | UBERON:0001870 | 94.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.14 | gold quality |
| amygdala | UBERON:0001876 | 94.02 | gold quality |
| pancreas | UBERON:0001264 | 93.97 | gold quality |
| adrenal tissue | UBERON:0018303 | 93.93 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.90 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.82 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.80 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.80 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.78 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.68 | gold quality |
| cerebellum | UBERON:0002037 | 93.66 | gold quality |
| muscle of leg | UBERON:0001383 | 93.61 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6058 | no | 361.04 |
| E-HCAD-5 | no | 2.40 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting LCMT1, 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-10401-5P | 99.99 | 65.79 | 948 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-505-3P | 99.19 | 69.71 | 896 |
| HSA-MIR-6815-3P | 99.13 | 68.98 | 1530 |
| HSA-MIR-873-5P | 98.84 | 66.90 | 1348 |
| HSA-MIR-3928-3P | 97.61 | 66.53 | 1096 |
| HSA-MIR-4654 | 95.86 | 65.72 | 751 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 31.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 9)
- LCMT-1 is important for normal progression through mitosis and cell survival and is essential for embryonic development (PMID:17724024)
- X-ray crystal structure of human LCMT1 protein in complex with the cofactor S-adenosylmethionine (AdoMet) has been solved to a resolution of 2 A. (PMID:21206058)
- determined crystal structures of human LCMT-1 in isolation and in complex with PP2A stabilized by a cofactor mimic. The structures show that the LCMT-1 active-site pocket recognizes the carboxyl terminus of PP2A (PMID:21292165)
- Data indicate that PP2A holoenzyme biogenesis and activity are controlled by five PP2A modulators, consisting of alpha4, PTPA, LCMT1, PME-1 and TIPRL1, which serve to prevent promiscuous phosphatase activity until the holoenzyme is completely assembled. (PMID:22443683)
- GSK-3beta can inhibit PP2A by increasing the inhibitory L309-demethylation involving upregulation of PME-1 and inhibition of PPMT1 (PMID:22732552)
- alterations in the membrane localization of PP2A and Tau following down-regulation of LCMT1 may lead to PP2A and Tau dysfunction in AD. (PMID:23943618)
- LCMT1-PME-1 methylation equilibrium is critical for regulating mitotic spindle size and thereby proper cell division (PMID:25839665)
- We demonstrate that NNMT outcompetes leucine carboxyl methyl transferase 1 (LCMT1) for methyl transfer from principal methyl donor SAM in biological systems. Inhibiting NNMT increased the availability of methyl groups for LCMT1 to methylate PP2A, resulting in the inhibition of oncogenic serine/threonine kinases (STK). (PMID:27810903)
- Loss of LCMT1 and biased protein phosphatase 2A heterotrimerization drive prostate cancer progression and therapy resistance. (PMID:37644036)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lcmt1 | ENSDARG00000045140 |
| mus_musculus | Lcmt1 | ENSMUSG00000030763 |
| rattus_norvegicus | Lcmt1 | ENSRNOG00000014565 |
| drosophila_melanogaster | CG3793 | FBGN0028507 |
| caenorhabditis_elegans | WBGENE00007137 |
Paralogs (1): LCMT2 (ENSG00000168806)
Protein
Protein identifiers
Leucine carboxyl methyltransferase 1 — Q9UIC8 (reviewed: Q9UIC8)
Alternative names: Protein-leucine O-methyltransferase, [Phosphatase 2A protein]-leucine-carboxy methyltransferase 1
All UniProt accessions (7): Q9UIC8, H3BUP7, H7BYF0, I3L2E3, I3L2Q8, I3L4A2, I3L537
UniProt curated annotations — full annotation on UniProt →
Function. Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues.
Similarity. Belongs to the methyltransferase superfamily. LCMT family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UIC8-1 | 1 | yes |
| Q9UIC8-2 | 2 | |
| Q9UIC8-3 | 3 |
RefSeq proteins (2): NP_001027563, NP_057393* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007213 | Ppm1/Ppm2/Tcmp | Family |
| IPR016651 | LCMT1 | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF04072
Enzyme classification (BRENDA):
- EC 2.1.1.233 — [phosphatase 2A protein]-leucine-carboxy methyltransferase (BRENDA: 8 organisms, 14 substrates, 2 inhibitors, 1 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| [PHOSPHATASE 2A PROTEIN]-LEUCINE | 0.0018 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- [phosphatase 2A protein]-C-terminal L-leucine + S-adenosyl-L-methionine = [phosphatase 2A protein]-C-terminal L-leucine methyl ester + S-adenosyl-L-homocysteine (RHEA:48544)
UniProt features (45 total): helix 16, strand 9, sequence conflict 7, binding site 6, turn 4, splice variant 2, chain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3IEI | X-RAY DIFFRACTION | 1.9 |
| 3O7W | X-RAY DIFFRACTION | 2 |
| 3P71 | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UIC8-F1 | 93.80 | 0.90 |
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 (6): 37; 73; 98; 122; 171–172; 198
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-69273 | Cyclin A/B1/B2 associated events during G2/M transition |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-453274 | Mitotic G2-G2/M phases |
| R-HSA-69275 | G2/M Transition |
| R-HSA-69278 | Cell Cycle, Mitotic |
MSigDB gene sets: 177 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_CHROMOSOME_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE_CHECKPOINT, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_493, GOBP_CHROMOSOME_SEPARATION, CREBP1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, KEGG_HISTIDINE_METABOLISM
GO Biological Process (10): G2/M transition of mitotic cell cycle (GO:0000086), protein methylation (GO:0006479), C-terminal protein methylation (GO:0006481), regulation of glucose metabolic process (GO:0010906), negative regulation of protein-containing complex assembly (GO:0031333), protein modification process (GO:0036211), regulation of apoptotic process (GO:0042981), regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266), regulation of signal transduction (GO:0009966), methylation (GO:0032259)
GO Molecular Function (7): protein C-terminal carboxyl O-methyltransferase activity (GO:0003880), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), protein C-terminal leucine carboxyl O-methyltransferase activity (GO:0018423), protein binding (GO:0005515), methyltransferase activity (GO:0008168), protein methyltransferase activity (GO:0008276), transferase activity (GO:0016740)
GO Cellular Component (2): nucleoplasm (GO:0005654), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| G2/M Transition | 1 |
| Cell Cycle, Mitotic | 1 |
| Mitotic G2-G2/M phases | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| methyltransferase activity | 2 |
| cellular anatomical structure | 2 |
| mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| cell cycle G2/M phase transition | 1 |
| protein alkylation | 1 |
| macromolecule methylation | 1 |
| protein methylation | 1 |
| C-terminal protein amino acid modification | 1 |
| glucose metabolic process | 1 |
| regulation of carbohydrate metabolic process | 1 |
| regulation of small molecule metabolic process | 1 |
| regulation of protein-containing complex assembly | 1 |
| negative regulation of cellular component organization | 1 |
| protein-containing complex assembly | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| regulation of mitotic nuclear division | 1 |
| mitotic spindle assembly checkpoint signaling | 1 |
| regulation of mitotic sister chromatid separation | 1 |
| regulation of mitotic metaphase/anaphase transition | 1 |
| regulation of mitotic sister chromatid segregation | 1 |
| regulation of mitotic spindle checkpoint | 1 |
| signal transduction | 1 |
| regulation of cell communication | 1 |
| regulation of signaling | 1 |
| regulation of response to stimulus | 1 |
| metabolic process | 1 |
| protein carboxyl O-methyltransferase activity | 1 |
| protein C-terminal carboxyl O-methyltransferase activity | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1028 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LCMT1 | PPP2R2A | P50409 | 965 |
| LCMT1 | PPP2CA | P05323 | 931 |
| LCMT1 | PPME1 | Q9Y570 | 915 |
| LCMT1 | PTPA | Q15257 | 744 |
| LCMT1 | TIPRL | O75663 | 710 |
| LCMT1 | PPP2R1A | P30153 | 608 |
| LCMT1 | PPP4C | P33172 | 589 |
| LCMT1 | PPP2R3B | Q9Y5P8 | 586 |
| LCMT1 | PPP2R3A | Q06190 | 585 |
| LCMT1 | NPRL3 | Q12980 | 569 |
| LCMT1 | PPP2R5A | Q15172 | 565 |
| LCMT1 | AQP8 | O94778 | 550 |
| LCMT1 | PPP2R5D | Q14738 | 539 |
| LCMT1 | NPRL2 | Q8WTW4 | 531 |
| LCMT1 | MINK1 | Q8N4C8 | 527 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FXR2 | LCMT1 | psi-mi:“MI:0915”(physical association) | 0.510 |
| LCMT1 | FXR2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| PPP2CA | LCMT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LCMT1 | VPS37C | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFTR | LCMT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LCMT1 | TAB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LCMT1 | PPP4C | psi-mi:“MI:0914”(association) | 0.350 |
| DND1 | HNRNPCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| TGDS | GPD1 | psi-mi:“MI:0914”(association) | 0.350 |
| LCMT1 | solA | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (35): PPP2CA (Affinity Capture-MS), PPP4C (Affinity Capture-MS), EIF1AX (Affinity Capture-MS), PPP4R2 (Affinity Capture-MS), LCMT1 (Two-hybrid), LCMT1 (Affinity Capture-Western), LCMT1 (Co-fractionation), NECAP1 (Co-fractionation), TANGO2 (Co-fractionation), PPP2CA (Affinity Capture-MS), PPP4R2 (Affinity Capture-MS), PPP4C (Affinity Capture-MS), LCMT1 (Affinity Capture-MS), LCMT1 (Negative Genetic), LCMT1 (Negative Genetic)
ESM2 similar proteins: A2AV36, A2VD33, A4QN59, A4QP75, A6QQV6, B0WSX1, B3MZN7, B4PYH5, B8A5G9, D3ZG52, D9IVE5, E1BMP7, F1QCV2, O95470, P51530, Q14CH1, Q16GH0, Q16P90, Q28CZ7, Q2VPA6, Q32PX9, Q3T0H0, Q3TZM9, Q4KLT3, Q4V7D6, Q502I6, Q58E95, Q5U4E8, Q5U534, Q5ZIB9, Q5ZKG3, Q655R6, Q6NTR1, Q6P4Z6, Q6PCI6, Q6ZQJ5, Q8AWD2, Q8BIP0, Q8GWT4, Q8LGM7
Diamond homologs: O60294, O94257, P0CO56, P0CO57, P46554, Q3T0H0, Q4ICG8, Q4WS57, Q5AQJ2, Q5XIA3, Q5Z8K3, Q60YU0, Q6C997, Q6P4Z6, Q75AW4, Q8BYR1, Q8VY08, Q9UIC8, Q6BQD2, Q7SAP7, Q4P4G2, Q9P3K9, Q5A387, Q6FUI5, Q04081, Q6CWW0, Q759U5, O60157, Q08282, Q5A931, Q6FXA5, A1KGK7, A5U0B2, P9WFI6, P9WFI7, Q7U1E6, Q9LR78, Q2U6D4, Q4WVD1, Q5BH52
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LCMT1 | “up-regulates activity” | PPP2CA | methylation |
| LCMT1 | “up-regulates activity” | PPP2CB | methylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2117 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:25161170:G:GT | donor_gain | 1.0000 |
| 16:25161179:C:G | donor_gain | 1.0000 |
| 16:25161184:GAAAT:G | donor_gain | 1.0000 |
| 16:25161205:G:GG | donor_gain | 1.0000 |
| 16:25164596:A:G | acceptor_gain | 1.0000 |
| 16:25164726:G:GT | donor_gain | 1.0000 |
| 16:25169106:TCCTA:T | acceptor_loss | 1.0000 |
| 16:25169107:CCTAG:C | acceptor_loss | 1.0000 |
| 16:25169108:CTAGG:C | acceptor_loss | 1.0000 |
| 16:25169109:TAGGT:T | acceptor_loss | 1.0000 |
| 16:25169110:A:AG | acceptor_gain | 1.0000 |
| 16:25169110:AGG:A | acceptor_loss | 1.0000 |
| 16:25169111:G:GG | acceptor_gain | 1.0000 |
| 16:25169195:C:T | donor_gain | 1.0000 |
| 16:25169209:CACAG:C | donor_loss | 1.0000 |
| 16:25169211:CAGG:C | donor_loss | 1.0000 |
| 16:25169212:AG:A | donor_loss | 1.0000 |
| 16:25169213:GGTC:G | donor_loss | 1.0000 |
| 16:25169214:G:A | donor_loss | 1.0000 |
| 16:25169215:T:A | donor_loss | 1.0000 |
| 16:25170706:C:G | acceptor_gain | 1.0000 |
| 16:25174936:GGATA:G | acceptor_gain | 1.0000 |
| 16:25175020:G:GT | donor_gain | 1.0000 |
| 16:25175023:GAAA:G | donor_gain | 1.0000 |
| 16:25175024:A:T | donor_gain | 1.0000 |
| 16:25175030:GCTTG:G | donor_gain | 1.0000 |
| 16:25175031:C:G | donor_gain | 1.0000 |
| 16:25175033:TGG:T | donor_loss | 1.0000 |
| 16:25175035:G:GG | donor_gain | 1.0000 |
| 16:25175036:T:A | donor_loss | 1.0000 |
AlphaMissense
2198 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:25169130:T:C | F237L | 0.999 |
| 16:25169132:T:A | F237L | 0.999 |
| 16:25169132:T:G | F237L | 0.999 |
| 16:25174963:A:T | E304V | 0.999 |
| 16:25111994:G:C | K37N | 0.998 |
| 16:25111994:G:T | K37N | 0.998 |
| 16:25132512:T:A | W106R | 0.998 |
| 16:25132512:T:C | W106R | 0.998 |
| 16:25169155:T:C | L245P | 0.998 |
| 16:25128480:C:A | A40E | 0.997 |
| 16:25128565:A:C | R68S | 0.997 |
| 16:25128565:A:T | R68S | 0.997 |
| 16:25140207:G:C | D122H | 0.997 |
| 16:25164621:A:T | E198V | 0.997 |
| 16:25164625:T:G | C199W | 0.997 |
| 16:25169131:T:G | F237C | 0.997 |
| 16:25170738:T:A | W273R | 0.997 |
| 16:25170738:T:C | W273R | 0.997 |
| 16:25128558:T:C | I66T | 0.996 |
| 16:25132402:G:A | G69E | 0.996 |
| 16:25132411:C:A | A72D | 0.996 |
| 16:25132500:G:C | D102H | 0.996 |
| 16:25140208:A:T | D122V | 0.996 |
| 16:25140233:G:C | K130N | 0.996 |
| 16:25140233:G:T | K130N | 0.996 |
| 16:25161153:G:C | R173P | 0.996 |
| 16:25164635:T:C | Y203H | 0.996 |
| 16:25169143:T:C | M241T | 0.996 |
| 16:25169144:G:A | M241I | 0.996 |
| 16:25169144:G:C | M241I | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000013234 (16:25151616 G>A), RS1000061360 (16:25151841 C>T), RS1000113500 (16:25152147 G>T), RS1000115938 (16:25137827 T>G), RS1000144007 (16:25135527 G>A,T), RS1000229257 (16:25168113 A>G,T), RS1000239972 (16:25129415 G>A), RS1000242131 (16:25130166 C>T), RS1000269995 (16:25168382 A>G), RS1000294471 (16:25130302 T>C), RS1000361347 (16:25157533 G>A), RS1000471202 (16:25112990 T>C), RS1000523348 (16:25146341 A>C,G,T), RS1000554747 (16:25147987 G>A), RS1000570823 (16:25173974 C>T)
Disease associations
OMIM: gene MIM:610286 | 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 |
|---|---|---|
| GCST002935_23 | Lead levels | 8.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects methylation, decreases expression, increases abundance, increases expression | 4 |
| Arsenic | decreases expression, increases abundance, increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| trichostatin A | affects expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol S | increases methylation | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Acrolein | increases abundance, affects cotreatment, increases oxidation | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arecoline | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Nocodazole | decreases response to substance | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SV37 | HAP1 LCMT1 (-) 1 | Cancer cell line | Male |
| CVCL_SV38 | HAP1 LCMT1 (-) 2 | Cancer cell line | Male |
| CVCL_SV39 | HAP1 LCMT1 (-) 3 | Cancer cell line | Male |
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.