LSG1
gene geneOn this page
Also known as FLJ11301
Summary
LSG1 (large 60S subunit nuclear export GTPase 1, HGNC:25652) is a protein-coding gene on chromosome 3q29, encoding Large subunit GTPase 1 homolog (Q9H089). Functions as a GTPase. It is a common-essential gene (DepMap: required in 96.2% of cancer cell lines).
This gene encodes a protein related to the yeast large subunit GTPase 1. The encoded protein is necessary for cell viability and may localize in the endoplasmic reticulum, nucleus and cytoplasm.
Source: NCBI Gene 55341 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 153 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 96.2% of screened cell lines (common-essential)
- MANE Select transcript:
NM_018385
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25652 |
| Approved symbol | LSG1 |
| Name | large 60S subunit nuclear export GTPase 1 |
| Location | 3q29 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11301 |
| Ensembl gene | ENSG00000041802 |
| Ensembl biotype | protein_coding |
| OMIM | 610780 |
| Entrez | 55341 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 4 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000265245, ENST00000427461, ENST00000437613, ENST00000460584, ENST00000461343, ENST00000466391, ENST00000475763, ENST00000480853, ENST00000906595, ENST00000917674
RefSeq mRNA: 1 — MANE Select: NM_018385
NM_018385
CCDS: CCDS33922
Canonical transcript exons
ENST00000265245 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000333025 | 194670009 | 194670135 |
| ENSE00001057052 | 194658957 | 194659133 |
| ENSE00001057057 | 194666203 | 194666289 |
| ENSE00001057061 | 194665557 | 194665643 |
| ENSE00001057062 | 194652729 | 194653142 |
| ENSE00001057064 | 194666452 | 194666572 |
| ENSE00001415869 | 194640791 | 194642247 |
| ENSE00001507461 | 194648681 | 194648804 |
| ENSE00001507463 | 194650881 | 194651024 |
| ENSE00001644822 | 194672064 | 194672191 |
| ENSE00003463351 | 194646164 | 194646243 |
| ENSE00003493342 | 194644573 | 194644746 |
| ENSE00003631729 | 194651115 | 194651216 |
| ENSE00003687959 | 194660073 | 194660133 |
Expression profiles
Bgee: expression breadth ubiquitous, 291 present calls, max score 93.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.6961 / max 224.5924, expressed in 1814 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46252 | 23.6961 | 1814 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 93.38 | gold quality |
| rectum | UBERON:0001052 | 92.14 | gold quality |
| right lobe of liver | UBERON:0001114 | 91.96 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.87 | gold quality |
| body of pancreas | UBERON:0001150 | 91.85 | gold quality |
| skin of abdomen | UBERON:0001416 | 91.85 | gold quality |
| skin of leg | UBERON:0001511 | 91.73 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.01 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 90.99 | gold quality |
| lymph node | UBERON:0000029 | 90.97 | gold quality |
| right ovary | UBERON:0002118 | 90.82 | gold quality |
| zone of skin | UBERON:0000014 | 90.78 | gold quality |
| pancreas | UBERON:0001264 | 90.75 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.72 | gold quality |
| adrenal tissue | UBERON:0018303 | 90.55 | gold quality |
| left uterine tube | UBERON:0001303 | 90.54 | gold quality |
| upper lobe of lung | UBERON:0008948 | 90.53 | gold quality |
| nipple | UBERON:0002030 | 90.52 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.48 | gold quality |
| vermiform appendix | UBERON:0001154 | 90.42 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 90.32 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.27 | gold quality |
| body of stomach | UBERON:0001161 | 90.24 | gold quality |
| transverse colon | UBERON:0001157 | 90.21 | gold quality |
| monocyte | CL:0000576 | 90.20 | gold quality |
| mononuclear cell | CL:0000842 | 90.16 | gold quality |
| leukocyte | CL:0000738 | 90.14 | gold quality |
| body of uterus | UBERON:0009853 | 90.14 | gold quality |
| ventricular zone | UBERON:0003053 | 90.10 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.04 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting LSG1, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-12117 | 99.50 | 67.57 | 868 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-6780B-3P | 99.13 | 67.18 | 622 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-7158-3P | 98.46 | 66.45 | 728 |
| HSA-MIR-12127 | 97.93 | 66.67 | 793 |
| HSA-MIR-4638-3P | 97.90 | 65.75 | 905 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-6890-3P | 97.50 | 65.71 | 997 |
| HSA-MIR-1913 | 97.07 | 66.20 | 1417 |
| HSA-MIR-6070 | 86.37 | 66.56 | 59 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.2% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 3)
- hLsg1 is an essential GTPase predominantly located in the endoplasmic reticulum and, in some cells, in Cajal bodies in the nucleus. (PMID:16209721)
- Targeting of LSG1 resulted in amplification of the cholesterol/endoplasmic reticular signature and restoration of a robust cellular senescence response in transformed cells, suggesting potential therapeutic uses of LSG1 inhibition. (PMID:31148378)
- The Ribosome Assembly Factor LSG1 Interacts with Vesicle-Associated Membrane Protein-Associated Proteins (VAPs). (PMID:39133101)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lsg1 | ENSDARG00000015352 |
| mus_musculus | Lsg1 | ENSMUSG00000022538 |
| rattus_norvegicus | Lsg1 | ENSRNOG00000001727 |
| drosophila_melanogaster | Ns3 | FBGN0266284 |
| caenorhabditis_elegans | C53H9.2 | WBGENE00016907 |
Paralogs (6): NOA1 (ENSG00000084092), GNL3L (ENSG00000130119), GNL2 (ENSG00000134697), MTG1 (ENSG00000148824), GNL3 (ENSG00000163938), GNL1 (ENSG00000204590)
Protein
Protein identifiers
Large subunit GTPase 1 homolog — Q9H089 (reviewed: Q9H089)
All UniProt accessions (3): Q9H089, F8WFC6, H7C2X7
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a GTPase. May act by mediating the release of NMD3 from the 60S ribosomal subunit after export into the cytoplasm during the 60S ribosomal subunit maturation.
Subcellular location. Cytoplasm. Endoplasmic reticulum. Nucleus. Cajal body.
Domain organisation. In contrast to other GTP-binding proteins, this family is characterized by a circular permutation of the GTPase motifs described by a G4-G1-G3 pattern.
Similarity. Belongs to the TRAFAC class YlqF/YawG GTPase family. LSG1 subfamily.
RefSeq proteins (1): NP_060855* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006073 | GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR030378 | G_CP_dom | Domain |
| IPR043358 | GNL1-like | Family |
Pfam: PF01926
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (19 total): compositionally biased region 6, binding site 3, modified residue 3, region of interest 3, sequence variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6LSR | ELECTRON MICROSCOPY | 3.13 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H089-F1 | 69.85 | 0.29 |
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): 212–215; 393–400; 437–440
Post-translational modifications (3): 93, 97, 252
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 142 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_NUCLEAR_TRANSPORT, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_NUCLEAR_EXPORT, GOBP_ORGANELLE_LOCALIZATION, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOCC_CAJAL_BODY, BENPORATH_OCT4_TARGETS, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, PAX2_02, GOMF_GTPASE_ACTIVITY, ELVIDGE_HIF1A_TARGETS_UP, GOMF_HYDROLASE_ACTIVITY_ACTING_ON_ACID_ANHYDRIDES, MEISSNER_ES_ICP_WITH_H3K4ME3
GO Biological Process (3): ribosomal subunit export from nucleus (GO:0000054), protein transport (GO:0015031), nuclear export (GO:0051168)
GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), nucleotide binding (GO:0000166), hydrolase activity (GO:0016787)
GO Cellular Component (8): nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), Cajal body (GO:0015030), membrane (GO:0016020), nuclear body (GO:0016604), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| ribosome localization | 1 |
| ribosome biogenesis | 1 |
| nuclear export | 1 |
| establishment of organelle localization | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| nucleocytoplasmic transport | 1 |
| intercellular transport | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| endomembrane system | 1 |
| nuclear ribonucleoprotein granule | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
3285 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSG1 | NMD3 | Q96D46 | 872 |
| LSG1 | RSL24D1 | Q9UHA3 | 775 |
| LSG1 | XPO1 | O14980 | 771 |
| LSG1 | MRTO4 | Q9UKD2 | 723 |
| LSG1 | GTPBP4 | Q9BZE4 | 716 |
| LSG1 | NSA2 | O95478 | 706 |
| LSG1 | MDN1 | Q9NU22 | 686 |
| LSG1 | RIOK2 | Q9BVS4 | 658 |
| LSG1 | RRP12 | Q5JTH9 | 648 |
| LSG1 | WDR74 | Q6RFH5 | 627 |
| LSG1 | SBDS | Q9Y3A5 | 607 |
| LSG1 | EFL1 | Q7Z2Z2 | 594 |
| LSG1 | RPF2 | Q9H7B2 | 584 |
| LSG1 | WDR12 | Q9GZL7 | 580 |
| LSG1 | FAM43A | Q8N2R8 | 579 |
IntAct
86 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VAPB | FAM83G | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.640 |
| VAPA | PITPNM1 | psi-mi:“MI:0914”(association) | 0.640 |
| FGL1 | LCMT2 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| PLPPR1 | STXBP3 | psi-mi:“MI:0914”(association) | 0.530 |
| LSG1 | SPARC | psi-mi:“MI:0915”(physical association) | 0.400 |
| LSG1 | KRT8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Rpl35 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Prkci | LLGL2 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL10 | RPS6 | psi-mi:“MI:0914”(association) | 0.350 |
| Emc3 | EMC8 | psi-mi:“MI:0914”(association) | 0.350 |
| NOP56 | C12orf43 | psi-mi:“MI:0914”(association) | 0.350 |
| VAPA | psi-mi:“MI:0914”(association) | 0.350 | |
| Eif3e | RPSA | psi-mi:“MI:0914”(association) | 0.350 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| VAPA | FAM83G | psi-mi:“MI:0914”(association) | 0.350 |
| TTC29 | DHX16 | psi-mi:“MI:0914”(association) | 0.350 |
| FGL1 | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (242): LSG1 (Affinity Capture-RNA), LSG1 (Affinity Capture-RNA), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Proximity Label-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS), LSG1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8G016, A1A5Q0, B3DH20, D3Z8X7, D4A1F2, E1BTG2, F1MF74, F1RA39, O14730, O60308, O88978, O94851, O95801, P51432, P70566, Q1RMR5, Q1RMT7, Q28FY0, Q2YDM7, Q3UHZ5, Q3UM18, Q4KLT3, Q4R3F0, Q4R8L2, Q5BJT6, Q5EA11, Q5ZJD3, Q6AZN0, Q6P5Q4, Q7Z569, Q80V31, Q863A4, Q863A5, Q863A6, Q863A7, Q86X45, Q8BML1, Q8CCP0, Q8R368, Q8R3H9
Diamond homologs: A4SCU1, A5IMB8, A5N2K5, A6LT31, A6TM67, A7Z7A9, A8EXG4, A8FFV6, A8GM60, A8GQS1, A8GUK6, A9BHV0, B1LBK5, B1YJV8, B2TPB6, B2UX10, B3EGV8, B3QQY9, B4S596, B5EEM1, B5XL04, B8I8N7, B8J030, B9E746, C0MA50, C0MEW6, C1F4C3, C3PMD9, C4K1B9, C4Z1T3, C6E8C5, O67679, P0DA92, P0DA93, P36915, P36916, P38424, P53145, Q026Q1, Q0A4P0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 109 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 |
|---|---|---|---|
| SRP-dependent cotranslational protein targeting to membrane | 16 | 20.0× | 3e-14 |
| Peptide chain elongation | 11 | 17.4× | 3e-09 |
| Viral mRNA Translation | 11 | 17.4× | 3e-09 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 11 | 17.3× | 3e-09 |
| Selenocysteine synthesis | 11 | 16.5× | 3e-09 |
| Eukaryotic Translation Termination | 11 | 16.5× | 3e-09 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 11 | 16.2× | 3e-09 |
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 11 | 16.2× | 3e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 12 | 22.7× | 1e-10 |
| ribosomal small subunit biogenesis | 6 | 13.9× | 1e-03 |
| translation | 11 | 11.5× | 1e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
153 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 119 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2224 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:194644566:AACTT:A | donor_loss | 1.0000 |
| 3:194644567:ACTT:A | donor_loss | 1.0000 |
| 3:194644568:CTT:C | donor_loss | 1.0000 |
| 3:194644569:TTA:T | donor_loss | 1.0000 |
| 3:194644570:TA:T | donor_loss | 1.0000 |
| 3:194644571:A:AC | donor_gain | 1.0000 |
| 3:194644571:AC:A | donor_loss | 1.0000 |
| 3:194644572:C:CC | donor_gain | 1.0000 |
| 3:194646159:CTTA:C | donor_loss | 1.0000 |
| 3:194646160:TTA:T | donor_gain | 1.0000 |
| 3:194646161:T:TG | donor_loss | 1.0000 |
| 3:194646161:TAC:T | donor_gain | 1.0000 |
| 3:194646162:A:AC | donor_gain | 1.0000 |
| 3:194646162:A:C | donor_loss | 1.0000 |
| 3:194646162:ACA:A | donor_gain | 1.0000 |
| 3:194646163:C:CA | donor_gain | 1.0000 |
| 3:194646163:CA:C | donor_gain | 1.0000 |
| 3:194646163:CAC:C | donor_gain | 1.0000 |
| 3:194646163:CACT:C | donor_gain | 1.0000 |
| 3:194646163:CACTG:C | donor_gain | 1.0000 |
| 3:194646172:AGT:A | donor_gain | 1.0000 |
| 3:194646239:CATGT:C | acceptor_gain | 1.0000 |
| 3:194646240:ATGT:A | acceptor_gain | 1.0000 |
| 3:194646241:TGT:T | acceptor_gain | 1.0000 |
| 3:194646242:GT:G | acceptor_gain | 1.0000 |
| 3:194646242:GTC:G | acceptor_loss | 1.0000 |
| 3:194646244:C:CA | acceptor_loss | 1.0000 |
| 3:194646244:C:CC | acceptor_gain | 1.0000 |
| 3:194646246:G:C | acceptor_gain | 1.0000 |
| 3:194650910:T:C | donor_gain | 1.0000 |
AlphaMissense
4379 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:194665576:A:G | W168R | 1.000 |
| 3:194665576:A:T | W168R | 1.000 |
| 3:194650990:T:A | D437V | 0.999 |
| 3:194650990:T:C | D437G | 0.999 |
| 3:194650990:T:G | D437A | 0.999 |
| 3:194665588:A:G | W164R | 0.999 |
| 3:194665588:A:T | W164R | 0.999 |
| 3:194650986:A:C | C438W | 0.998 |
| 3:194650989:G:C | D437E | 0.998 |
| 3:194650989:G:T | D437E | 0.998 |
| 3:194650991:C:G | D437H | 0.998 |
| 3:194650996:A:G | L435P | 0.998 |
| 3:194651190:A:C | S400R | 0.998 |
| 3:194651190:A:T | S400R | 0.998 |
| 3:194651192:T:G | S400R | 0.998 |
| 3:194665578:A:G | L167P | 0.998 |
| 3:194665584:C:G | R165P | 0.998 |
| 3:194666222:A:G | W139R | 0.998 |
| 3:194666222:A:T | W139R | 0.998 |
| 3:194666254:A:G | L128P | 0.998 |
| 3:194666289:T:A | R116S | 0.998 |
| 3:194666289:T:G | R116S | 0.998 |
| 3:194666452:C:G | R116T | 0.998 |
| 3:194670016:A:C | F73L | 0.998 |
| 3:194670016:A:T | F73L | 0.998 |
| 3:194670018:A:G | F73L | 0.998 |
| 3:194650988:A:G | C438R | 0.997 |
| 3:194651119:A:G | F424S | 0.997 |
| 3:194651195:T:G | K399Q | 0.997 |
| 3:194652730:A:G | L391P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000021025 (3:194647258 T>C), RS1000044771 (3:194644331 C>T), RS1000075898 (3:194644034 T>TG), RS1000112815 (3:194671733 T>A), RS1000146158 (3:194666621 A>G), RS1000332597 (3:194656539 C>T), RS1000447251 (3:194656221 A>C,G), RS1000664965 (3:194654982 G>C), RS1000690195 (3:194647560 G>A,C), RS1000697081 (3:194661943 G>A,T), RS1000708282 (3:194650189 G>C), RS1000751998 (3:194654430 C>T), RS1000762729 (3:194660537 T>A), RS1000780355 (3:194654699 A>G), RS1000974238 (3:194648584 T>C)
Disease associations
OMIM: gene MIM:610780 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004267_3 | Blood osmolality (transformed sodium) | 3.000000e-06 |
| GCST005024_67 | Pursuit maintenance gain | 5.000000e-06 |
| GCST009267_23 | Dental caries (decayed, missing and filled teeth) | 2.000000e-07 |
| GCST009268_8 | Dental caries (decayed, missing and filled tooth surfaces) | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008433 | pursuit maintenance gain measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067316 (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 |
|---|---|---|---|---|
| 9.28 | Kd | 0.521 | nM | CHEMBL3752910 |
| 9.28 | ED50 | 0.521 | nM | CHEMBL3752910 |
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-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148669: Binding affinity to human LSG1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0005 | uM |
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 3 |
| Benzo(a)pyrene | affects methylation | 2 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| sodium arsenite | affects binding, increases reaction, increases activity | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Amphotericin B | decreases expression | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cyclophosphamide | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Gentamicins | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Phenolsulfonphthalein | affects cotreatment, increases expression | 1 |
| Ribonucleotides | affects binding, increases reaction | 1 |
| Tretinoin | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 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 |
|---|---|---|---|
| CHEMBL5651711 | Binding | Binding affinity to human LSG1 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.