ASMTL
gene geneOn this page
Summary
ASMTL (acetylserotonin O-methyltransferase like, HGNC:751) is a protein-coding gene on chromosome Xp22.3 and Yp11.3, encoding Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein (O95671). Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP.
The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 8623 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 197 total
- MANE Select transcript:
NM_004192
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:751 |
| Approved symbol | ASMTL |
| Name | acetylserotonin O-methyltransferase like |
| Location | Xp22.3 and Yp11.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000169093 |
| Ensembl biotype | protein_coding |
| OMIM | 300162, 400011 |
| Entrez | 8623 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 16 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000381317, ENST00000381333, ENST00000462195, ENST00000463763, ENST00000474865, ENST00000534940, ENST00000861140, ENST00000861141, ENST00000861142, ENST00000861143, ENST00000940599, ENST00000940600, ENST00000940601, ENST00000940602, ENST00000940603, ENST00000940604, ENST00000967039, ENST00000967040, ENST00000967041
RefSeq mRNA: 3 — MANE Select: NM_004192
NM_001173473, NM_001173474, NM_004192
CCDS: CCDS43917, CCDS55362, CCDS55363
Canonical transcript exons
ENST00000381317 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001122361 | 1412732 | 1412854 |
| ENSE00001122363 | 1417973 | 1418116 |
| ENSE00001122372 | 1418982 | 1419114 |
| ENSE00001122378 | 1421658 | 1421842 |
| ENSE00001122384 | 1425525 | 1425687 |
| ENSE00001122391 | 1427734 | 1428121 |
| ENSE00001122412 | 1435694 | 1435758 |
| ENSE00002288630 | 1403139 | 1403489 |
| ENSE00002313299 | 1452748 | 1452909 |
| ENSE00003486552 | 1432269 | 1432377 |
| ENSE00003500487 | 1435022 | 1435083 |
| ENSE00003580452 | 1442186 | 1442317 |
| ENSE00003664640 | 1439097 | 1439144 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 96.46.
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 96.46 | gold quality |
| parotid gland | UBERON:0001831 | 95.95 | gold quality |
| renal glomerulus | UBERON:0000074 | 94.86 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 94.65 | gold quality |
| endothelial cell | CL:0000115 | 94.63 | gold quality |
| parietal pleura | UBERON:0002400 | 93.79 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.73 | gold quality |
| pons | UBERON:0000988 | 93.33 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 93.29 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 93.28 | gold quality |
| corpus epididymis | UBERON:0004359 | 93.28 | gold quality |
| thymus | UBERON:0002370 | 93.26 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 93.14 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 92.81 | gold quality |
| stromal cell of endometrium | CL:0002255 | 92.54 | gold quality |
| synovial joint | UBERON:0002217 | 92.32 | gold quality |
| saphenous vein | UBERON:0007318 | 92.29 | gold quality |
| urethra | UBERON:0000057 | 92.25 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 92.25 | gold quality |
| pleura | UBERON:0000977 | 92.19 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 92.15 | gold quality |
| metanephros | UBERON:0000081 | 91.90 | gold quality |
| apex of heart | UBERON:0002098 | 91.86 | gold quality |
| periodontal ligament | UBERON:0008266 | 91.83 | gold quality |
| caput epididymis | UBERON:0004358 | 91.82 | gold quality |
| penis | UBERON:0000989 | 91.78 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 91.75 | gold quality |
| kidney epithelium | UBERON:0004819 | 91.68 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.67 | gold quality |
| popliteal artery | UBERON:0002250 | 91.60 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8498 | yes | 8.87 |
| E-MTAB-6142 | no | 128.06 |
| E-MTAB-6524 | no | 118.96 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting ASMTL, 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-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-6883-3P | 97.97 | 67.35 | 643 |
| HSA-MIR-134-5P | 97.11 | 66.52 | 976 |
| HSA-MIR-3118 | 97.11 | 66.58 | 984 |
| HSA-MIR-5579-5P | 96.32 | 68.54 | 730 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | asmtl | ENSDARG00000021433 |
| rattus_norvegicus | Asmtl | ENSRNOG00000028166 |
| drosophila_melanogaster | CG9515 | FBGN0032077 |
| caenorhabditis_elegans | dod-18 | WBGENE00008316 |
Paralogs (1): ASMT (ENSG00000196433)
Protein
Protein identifiers
Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein — O95671 (reviewed: O95671)
All UniProt accessions (1): O95671
UniProt curated annotations — full annotation on UniProt →
Function. Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo-UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP. May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids. In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methyltransferase activity.
Subunit / interactions. Homodimer.
Tissue specificity. Widely expressed. In adult, highly expressed in pancreas, placenta, fibroblast, thymus, prostate, testis, ovary and colon. Expressed at lower levels in spleen, small intestine and leukocytes. In fetus, expressed at high levels in the lung and kidney and at lower level in brain and liver.
Cofactor. Pyrophosphatase activity requires a divalent metal cation.
Miscellaneous. The gene coding for this protein is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It represents a unique fusion product of 2 different genes of different evolutionary origin and function. The N-terminus is homologous to the bacterial maf/orfE genes and the C-terminus is homologous to ASMT. Exon duplication, exon shuffling and gene fusion seem to be common characteristics of the PAR1 region.
Similarity. In the N-terminal section; belongs to the Maf family. YhdE subfamily. In the C-terminal section; belongs to the class I-like SAM-binding methyltransferase superfamily. Cation-independent O-methyltransferase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O95671-1 | 1 | yes |
| O95671-2 | 2 | |
| O95671-3 | 3 |
RefSeq proteins (5): NP_001166944, NP_001166945, NP_001411122, NP_001411123, NP_004183* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001077 | COMT_C | Domain |
| IPR003697 | Maf-like | Family |
| IPR012967 | COMT-like_dimerisation | Domain |
| IPR016461 | COMT-like | Family |
| IPR029001 | ITPase-like_fam | Homologous_superfamily |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR036388 | WH-like_DNA-bd_sf | Homologous_superfamily |
| IPR036390 | WH_DNA-bd_sf | Homologous_superfamily |
Pfam: PF00891, PF02545, PF08100
Catalyzed reactions (Rhea), 6 shown:
- CTP + H2O = CMP + diphosphate + H(+) (RHEA:27762)
- dTTP + H2O = dTMP + diphosphate + H(+) (RHEA:28534)
- UTP + H2O = UMP + diphosphate + H(+) (RHEA:29395)
- 5-methyl-CTP + H2O = 5-methyl-CMP + diphosphate + H(+) (RHEA:58732)
- 5-methyl-UTP + H2O = 5-methyl-UMP + diphosphate + H(+) (RHEA:58736)
- psi-UTP + H2O = psi-UMP + diphosphate + H(+) (RHEA:58740)
UniProt features (53 total): mutagenesis site 11, helix 10, strand 8, modified residue 5, region of interest 3, site 3, sequence conflict 3, binding site 3, splice variant 2, sequence variant 2, chain 1, compositionally biased region 1, active site 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2P5X | X-RAY DIFFRACTION | 2 |
| 6XI4 | X-RAY DIFFRACTION | 2.22 |
| 6XI5 | X-RAY DIFFRACTION | 2.61 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95671-F1 | 87.64 | 0.75 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 89 (important for substrate specificity; for pyrophosphatase activity); 179 (important for substrate specificity; for pyrophosphatase activity); 88 (proton acceptor; for pyrophosphatase activity); 23 (important for substrate specificity; for pyrophosphatase activity)
Ligand- & substrate-binding residues (3): 482; 508–510; 525
Post-translational modifications (5): 21, 228, 234, 239, 421
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 19 | loss of pyrophosphatase activity. |
| 21 | loss of pyrophosphatase activity. |
| 23 | decrease in pyrophosphatase activity. |
| 24 | loss of pyrophosphatase activity. |
| 44 | loss of pyrophosphatase activity. |
| 57 | loss of pyrophosphatase activity. |
| 65 | loss of pyrophosphatase activity. |
| 88 | loss of pyrophosphatase activity. |
| 99 | loss of pyrophosphatase activity. |
| 179 | loss of pyrophosphatase activity. |
| 179 | strong decrease in pyrophosphatase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 85 (showing top):
FAELT_B_CLL_WITH_VH_REARRANGEMENTS_DN, KYNG_DNA_DAMAGE_BY_4NQO, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, ONDER_CDH1_TARGETS_2_UP, SCHLOSSER_SERUM_RESPONSE_DN, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, BASAKI_YBX1_TARGETS_DN, GOBP_METHYLATION, GARY_CD5_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_DN, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, RUTELLA_RESPONSE_TO_HGF_UP
GO Biological Process (2): nucleotide metabolic process (GO:0009117), methylation (GO:0032259)
GO Molecular Function (9): O-methyltransferase activity (GO:0008171), dTTP diphosphatase activity (GO:0036218), UTP diphosphatase activity (GO:0036221), protein dimerization activity (GO:0046983), nucleoside triphosphate diphosphatase activity (GO:0047429), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740), hydrolase activity (GO:0016787)
GO Cellular Component (1): cytosol (GO:0005829)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleoside triphosphate diphosphatase activity | 2 |
| catalytic activity | 2 |
| nucleoside phosphate metabolic process | 1 |
| metabolic process | 1 |
| methyltransferase activity | 1 |
| protein binding | 1 |
| pyrophosphatase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2357 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ASMTL | AKAP17A | Q02040 | 909 |
| ASMTL | SLC25A6 | P12236 | 885 |
| ASMTL | PLCXD1 | Q9NUJ7 | 743 |
| ASMTL | DHRSX | Q8N5I4 | 740 |
| ASMTL | GTPBP6 | O43824 | 728 |
| ASMTL | NR1I2 | O75469 | 707 |
| ASMTL | ZBED1 | O96006 | 667 |
| ASMTL | P2RY8 | Q86VZ1 | 667 |
| ASMTL | SHOX | O15266 | 628 |
| ASMTL | PPP2R3B | Q9Y5P8 | 603 |
| ASMTL | EIF1AX | P47813 | 574 |
| ASMTL | CSF2RA | P15509 | 568 |
| ASMTL | PUDP | Q08623 | 567 |
| ASMTL | SPRY3 | O43610 | 542 |
| ASMTL | RBM44 | Q6ZP01 | 518 |
IntAct
80 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ASMTL | TDO2 | psi-mi:“MI:0915”(physical association) | 0.910 |
| TDO2 | ASMTL | psi-mi:“MI:0915”(physical association) | 0.910 |
| KRT31 | ASMTL | psi-mi:“MI:0915”(physical association) | 0.720 |
| ASMTL | KRT31 | psi-mi:“MI:0915”(physical association) | 0.720 |
| ASMTL | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASMTL | PNMA1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT40 | ASMTL | psi-mi:“MI:0915”(physical association) | 0.560 |
| PNMA1 | ASMTL | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | ASMTL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASMTL | REL | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASMTL | GORASP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASMTL | ZNF655 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASMTL | DCTN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASMTL | psi-mi:“MI:0915”(physical association) | 0.560 | |
| OPTN | ASMTL | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (56): ASMTL (Two-hybrid), ASMTL (Two-hybrid), ASMTL (Two-hybrid), PNMA1 (Two-hybrid), KRT40 (Two-hybrid), ASMTL (Two-hybrid), ASMTL (Two-hybrid), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS), ASMTL (Affinity Capture-MS)
ESM2 similar proteins: A0JN95, A4IF87, A6NJ78, B5DEQ3, B7ZMP1, D3ZLY0, E9Q4Z2, F1QDI9, G1SPE9, O14717, O15228, O22268, O55055, O95453, O95671, P37287, P69341, P97770, Q05B63, Q08J23, Q0V8R7, Q0VGM9, Q10D00, Q1HFZ0, Q2T9W2, Q4G073, Q5R5T5, Q5R962, Q5R9W8, Q5RC51, Q5RJZ1, Q6GR37, Q6H1L8, Q6NYU2, Q6YJI5, Q7TNK6, Q7YS61, Q7Z4G4, Q8JZM0, Q8R2Y8
Diamond homologs: A0A084R1I1, A0A0N9HMN6, A0A1L9UR19, A0A1W5SMT6, A0A2G5IC53, A0A2S1WC15, A0A2V5HP22, A0A348AXX3, A0A443HJY8, A0A4P8WAD3, A0A7T8J1Z8, A1DA61, A2QBF0, A5ABG3, A9X7L0, B0ZB56, B0ZB57, B1P123, B4XY98, B6VJS4, B8NJH3, B8NY85, B9WZX2, C7SDN9, C9K7C0, D3H5H5, D3KY98, D3KY99, D3KYA0, D7PI16, D7PI18, E7FL15, E9KMQ4, G3XSI5, I1RF60, I3PLQ7, M2YKT1, O24305, O24529, O95671
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
197 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 7 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2359 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:1412850:GTCAC:G | acceptor_gain | 1.0000 |
| X:1412851:TCAC:T | acceptor_gain | 1.0000 |
| X:1412852:CACC:C | acceptor_gain | 1.0000 |
| X:1421653:GCTAC:G | donor_loss | 1.0000 |
| X:1421654:CTA:C | donor_loss | 1.0000 |
| X:1421655:TACCT:T | donor_loss | 1.0000 |
| X:1421656:AC:A | donor_loss | 1.0000 |
| X:1421657:C:CT | donor_loss | 1.0000 |
| X:1425479:TCC:T | donor_gain | 1.0000 |
| X:1425686:CC:C | acceptor_gain | 1.0000 |
| X:1425686:CCCTG:C | acceptor_loss | 1.0000 |
| X:1425687:CC:C | acceptor_gain | 1.0000 |
| X:1425688:C:CC | acceptor_gain | 1.0000 |
| X:1427746:AAAGC:A | donor_gain | 1.0000 |
| X:1427815:AG:A | donor_gain | 1.0000 |
| X:1432263:ACTC:A | donor_loss | 1.0000 |
| X:1432264:CTCA:C | donor_loss | 1.0000 |
| X:1432265:TCAC:T | donor_loss | 1.0000 |
| X:1432266:CA:C | donor_loss | 1.0000 |
| X:1432267:A:AC | donor_gain | 1.0000 |
| X:1432267:A:C | donor_loss | 1.0000 |
| X:1432268:C:CA | donor_gain | 1.0000 |
| X:1432268:CA:C | donor_gain | 1.0000 |
| X:1432268:CAT:C | donor_gain | 1.0000 |
| X:1432268:CATG:C | donor_gain | 1.0000 |
| X:1432374:TGGT:T | acceptor_gain | 1.0000 |
| X:1432375:GGTCT:G | acceptor_loss | 1.0000 |
| X:1432377:TCTG:T | acceptor_loss | 1.0000 |
| X:1432378:C:CC | acceptor_gain | 1.0000 |
| X:1432378:CT:C | acceptor_loss | 1.0000 |
AlphaMissense
8114 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| Y:1439119:A:T | V84D | 0.995 |
| Y:1452771:G:T | R24S | 0.994 |
| Y:1452784:G:C | S19R | 0.993 |
| Y:1452784:G:T | S19R | 0.993 |
| Y:1452786:T:G | S19R | 0.993 |
| Y:1442226:G:T | A62D | 0.992 |
| Y:1428035:A:G | F199S | 0.990 |
| Y:1439116:A:T | I85N | 0.990 |
| Y:1442216:C:A | K65N | 0.990 |
| Y:1442216:C:G | K65N | 0.990 |
| Y:1439111:C:G | A87P | 0.989 |
| Y:1428046:G:C | N195K | 0.988 |
| Y:1428046:G:T | N195K | 0.988 |
| Y:1439107:T:A | D88V | 0.988 |
| Y:1442215:C:G | A66P | 0.988 |
| Y:1442218:T:G | K65Q | 0.988 |
| Y:1442238:G:T | A58D | 0.988 |
| Y:1452788:G:T | A18D | 0.988 |
| Y:1428038:C:T | G198E | 0.987 |
| Y:1439108:C:G | D88H | 0.987 |
| Y:1439113:C:T | G86E | 0.986 |
| Y:1442227:C:G | A62P | 0.986 |
| Y:1452791:A:G | L17P | 0.986 |
| Y:1419004:G:C | F452L | 0.985 |
| Y:1419004:G:T | F452L | 0.985 |
| Y:1419006:A:G | F452L | 0.985 |
| Y:1435048:A:T | V125D | 0.985 |
| Y:1428115:T:A | K172N | 0.983 |
| Y:1428115:T:G | K172N | 0.983 |
| Y:1435051:C:T | G124D | 0.983 |
dbSNP variants (sampled 300 via entrez): RS111066028 (X:1407046 A>G), RS111066034 (X:1424402 G>A,C), RS111161743 (X:1406777 C>A,G,T), RS111161744 (X:1406789 C>G), RS111161745 (X:1406818 A>G), RS111161747 (X:1416381 A>C), RS111161748 (X:1416385 G>A), RS111161749 (X:1416680 G>A), RS111162408 (X:1416172 T>C,G), RS111162409 (X:1416176 G>A), RS111162410 (X:1416208 A>G), RS111162411 (X:1416248 G>C), RS111162412 (X:1416252 G>A,C), RS111162413 (X:1416315 C>A), RS111162414 (X:1416319 A>G)
Disease associations
OMIM: gene MIM:300162, MIM:400011 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): myoepithelial tumor (MONDO:0002380), primary amenorrhea (MONDO:1060208)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009208 | Myoepithelioma | C04.557.435.585 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression | 5 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 2 |
| Decitabine | affects expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| pentanal | increases expression | 1 |
| entinostat | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | affects cotreatment, affects expression | 1 |
| Aldehydes | increases expression | 1 |
| Benzene | increases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Carmustine | decreases expression | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Disulfiram | affects binding, increases expression | 1 |
| Estradiol | affects expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SD64 | HAP1 ASMTL (-) 1 | Cancer cell line | Male |
| CVCL_XL60 | HAP1 ASMTL (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
6 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03600649 | PHASE1 | UNKNOWN | Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas |
| NCT05266196 | PHASE1/PHASE2 | UNKNOWN | A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577) |
| NCT06239272 | PHASE1/PHASE2 | RECRUITING | NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS) |
| NCT06625190 | PHASE1/PHASE2 | RECRUITING | Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors |
| NCT06244420 | Not specified | COMPLETED | Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis |
| NCT07164248 | Not specified | COMPLETED | Evaluation of Bone Mineral Density Indications and Outcomes in Female Adolescents: Implications for Early Detection of Osteopenia/Osteoporosis and Gynecologic Practice |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): primary amenorrhea