LTN1
gene geneOn this page
Also known as KIAA0714FLJ11053LISTERIN
Summary
LTN1 (listerin E3 ubiquitin protein ligase 1, HGNC:13082) is a protein-coding gene on chromosome 21q21.3, encoding E3 ubiquitin-protein ligase listerin (O94822). E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation.
Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).
Source: NCBI Gene 26046 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 244 total
- Druggable target: yes
- MANE Select transcript:
NM_015565
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13082 |
| Approved symbol | LTN1 |
| Name | listerin E3 ubiquitin protein ligase 1 |
| Location | 21q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0714, FLJ11053, LISTERIN |
| Ensembl gene | ENSG00000198862 |
| Ensembl biotype | protein_coding |
| OMIM | 613083 |
| Entrez | 26046 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000361371, ENST00000389194, ENST00000389195, ENST00000475344, ENST00000483326, ENST00000486427, ENST00000614971, ENST00000881243, ENST00000912877, ENST00000912878, ENST00000912879
RefSeq mRNA: 2 — MANE Select: NM_015565
NM_001320766, NM_015565
CCDS: CCDS33527
Canonical transcript exons
ENST00000361371 — 30 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001436303 | 28992764 | 28992877 |
| ENSE00001505143 | 28986731 | 28986934 |
| ENSE00001621538 | 28947464 | 28947606 |
| ENSE00001622947 | 28960517 | 28960706 |
| ENSE00001642510 | 28952160 | 28952264 |
| ENSE00001650919 | 28935109 | 28935329 |
| ENSE00001657296 | 28944383 | 28944596 |
| ENSE00001666120 | 28943667 | 28943904 |
| ENSE00001681558 | 28956762 | 28956948 |
| ENSE00001682761 | 28936526 | 28936697 |
| ENSE00001688591 | 28928144 | 28930510 |
| ENSE00001703316 | 28941220 | 28941406 |
| ENSE00001705186 | 28959458 | 28959697 |
| ENSE00001713856 | 28945807 | 28945951 |
| ENSE00001718587 | 28965865 | 28965906 |
| ENSE00001729415 | 28957332 | 28957476 |
| ENSE00001732602 | 28931155 | 28931322 |
| ENSE00001735330 | 28932470 | 28932664 |
| ENSE00001741886 | 28943262 | 28943336 |
| ENSE00001748537 | 28958386 | 28958539 |
| ENSE00001750264 | 28946152 | 28946287 |
| ENSE00001766793 | 28953217 | 28953376 |
| ENSE00002722595 | 28966370 | 28967179 |
| ENSE00003496895 | 28982316 | 28982368 |
| ENSE00003523511 | 28986139 | 28986237 |
| ENSE00003583906 | 28970552 | 28970742 |
| ENSE00003589298 | 28984692 | 28984922 |
| ENSE00003633682 | 28969466 | 28969601 |
| ENSE00003637644 | 28981119 | 28981299 |
| ENSE00003680289 | 28971271 | 28971444 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 96.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.4845 / max 520.5188, expressed in 1805 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 190060 | 24.1683 | 1804 |
| 190061 | 0.2123 | 57 |
| 190059 | 0.0776 | 26 |
| 209292 | 0.0262 | 5 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 96.52 | gold quality |
| decidua | UBERON:0002450 | 94.77 | gold quality |
| biceps brachii | UBERON:0001507 | 94.34 | gold quality |
| endothelial cell | CL:0000115 | 94.15 | gold quality |
| oocyte | CL:0000023 | 93.91 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 93.74 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 93.57 | gold quality |
| upper leg skin | UBERON:0004262 | 93.42 | gold quality |
| skin of hip | UBERON:0001554 | 93.33 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 93.18 | gold quality |
| cauda epididymis | UBERON:0004360 | 92.76 | gold quality |
| heart right ventricle | UBERON:0002080 | 92.71 | gold quality |
| colonic mucosa | UBERON:0000317 | 92.59 | gold quality |
| jejunal mucosa | UBERON:0000399 | 92.46 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.42 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.25 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.96 | gold quality |
| seminal vesicle | UBERON:0000998 | 91.84 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 91.81 | gold quality |
| caput epididymis | UBERON:0004358 | 91.62 | gold quality |
| jejunum | UBERON:0002115 | 91.26 | gold quality |
| oral cavity | UBERON:0000167 | 91.08 | gold quality |
| tibia | UBERON:0000979 | 91.00 | gold quality |
| blood vessel layer | UBERON:0004797 | 90.95 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.81 | gold quality |
| corpus callosum | UBERON:0002336 | 90.54 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.45 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.42 | gold quality |
| parotid gland | UBERON:0001831 | 90.40 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.36 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.89 |
| E-CURD-10 | no | 327.97 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
120 targeting LTN1, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
Literature-anchored findings (GeneRIF, showing 4)
- Results show that Listerin specificity for nascent chain-60S complexes depends on nuclear export mediator factor. (PMID:25578875)
- E3 ligase listerin accesses nascent polypeptides stalled at the Sec61 translocon via a gap in the ribosome-translocon junction near the Sec61 lateral gate. (PMID:25877867)
- Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein Ligase 1 Genes in the Periphery of Patients with Schizophrenia. (PMID:34676516)
- LTN1 promotes RLR degradation to inhibit immune response to RNA virus through the ESCRT pathway. (PMID:38060409)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ltn1 | ENSDARG00000003984 |
| mus_musculus | Ltn1 | ENSMUSG00000052299 |
| rattus_norvegicus | Ltn1 | ENSRNOG00000001602 |
| drosophila_melanogaster | Ltn1 | FBGN0262517 |
| caenorhabditis_elegans | Y54E10A.11 | WBGENE00021831 |
Protein
Protein identifiers
E3 ubiquitin-protein ligase listerin — O94822 (reviewed: O94822)
Alternative names: RING finger protein 160, RING-type E3 ubiquitin transferase listerin, Zinc finger protein 294
All UniProt accessions (3): O94822, H7BYG8, S4R3T2
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin-protein ligase component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. Within the RQC complex, LTN1 is recruited to stalled 60S ribosomal subunits by NEMF and mediates ubiquitination of stalled nascent chains. Ubiquitination leads to VCP/p97 recruitment for extraction and degradation of the incomplete translation product.
Subunit / interactions. Component of the ribosome quality control complex (RQC), composed of the E3 ubiquitin ligase LTN1, TCF25 and NEMF associated with the 60S ribosomal subunit. The complex probably also contains VCP/p97 and its ubiquitin-binding cofactors.
Subcellular location. Cytoplasm. Cytosol.
Post-translational modifications. Autoubiquitinated.
Pathway. Protein modification; protein ubiquitination.
Similarity. Belongs to the LTN1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O94822-1 | 1 | yes |
| O94822-2 | 2 | |
| O94822-3 | 3 |
RefSeq proteins (2): NP_001307695, NP_056380* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR011016 | Znf_RING-CH | Domain |
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR039795 | LTN1/Rkr1 | Family |
| IPR039804 | RING-CH-C4HC3_LTN1 | Domain |
| IPR054476 | Ltn1_N | Domain |
| IPR054477 | LTN1_E3_ligase_6th | Domain |
| IPR054478 | LTN1_UBC | Domain |
| IPR056241 | LTN1_HEAT_5th | Domain |
Pfam: PF22958, PF22999, PF23009, PF24618
UniProt features (31 total): repeat 16, sequence conflict 7, sequence variant 4, splice variant 2, chain 1, zinc finger region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9GY4 | ELECTRON MICROSCOPY | 3 |
| 3J92 | ELECTRON MICROSCOPY | 3.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94822-F1 | 80.79 | 0.33 |
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 164 (showing top):
ACTACCT_MIR196A_MIR196B, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, MORF_ATRX, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_TRANSLATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_PROTEIN_AUTOUBIQUITINATION, ATTACAT_MIR3803P, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_TRANSLATIONAL_ELONGATION, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, CTTTGTA_MIR524
GO Biological Process (5): protein autoubiquitination (GO:0051865), rescue of stalled cytosolic ribosome (GO:0072344), ribosome-associated ubiquitin-dependent protein catabolic process (GO:1990116), protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (7): zinc ion binding (GO:0008270), ribosomal large subunit binding (GO:0043023), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (4): cytosol (GO:0005829), cytosolic ribosome (GO:0022626), RQC complex (GO:1990112), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Class I MHC mediated antigen processing & presentation | 1 |
| Ribosome-associated quality control | 1 |
| Immune System | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein ubiquitination | 1 |
| cytoplasmic translational elongation | 1 |
| ribosome disassembly | 1 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| transition metal ion binding | 1 |
| ribosome binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| ubiquitin-like protein transferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| cytosol | 1 |
| ribosome | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LTN1 | NEMF | O60524 | 968 |
| LTN1 | VCP | P55072 | 904 |
| LTN1 | ANKZF1 | Q9H8Y5 | 862 |
| LTN1 | TCF25 | Q9BQ70 | 841 |
| LTN1 | ZNF598 | Q86UK7 | 815 |
| LTN1 | HBS1L | Q9Y450 | 796 |
| LTN1 | UBE2A | P49459 | 767 |
| LTN1 | ABCE1 | P61221 | 762 |
| LTN1 | CNOT4 | O95628 | 744 |
| LTN1 | UFD1 | Q92890 | 702 |
| LTN1 | UBR1 | Q8IWV7 | 687 |
| LTN1 | NPLOC4 | Q8TAT6 | 679 |
| LTN1 | UBA1 | P22314 | 646 |
| LTN1 | PELO | Q9BRX2 | 643 |
| LTN1 | MARCHF6 | O60337 | 576 |
IntAct
152 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TIRAP | TLR4 | psi-mi:“MI:0914”(association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| NPY2R | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| VASN | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| EGFR | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| ARRDC4 | WWP2 | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| TGOLN2 | DENND11 | psi-mi:“MI:0914”(association) | 0.530 |
| CD226 | MEN1 | psi-mi:“MI:0914”(association) | 0.530 |
| RNF19B | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| CA14 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRM3 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| HLA-B | LTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| B3GALT2 | LTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| IRF7 | AIP | psi-mi:“MI:0914”(association) | 0.500 |
| LTN1 | TIRAP | psi-mi:“MI:0915”(physical association) | 0.500 |
| LTN1 | STING1 | psi-mi:“MI:0915”(physical association) | 0.500 |
| LTN1 | IRF7 | psi-mi:“MI:0915”(physical association) | 0.500 |
BioGRID (301): NEMF (Co-fractionation), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), LTN1 (Co-fractionation), LTN1 (Co-fractionation), LTN1 (Co-fractionation), LTN1 (Affinity Capture-MS), DHCR7 (Affinity Capture-MS)
ESM2 similar proteins: A0JM49, A2AKG8, B0V0U5, B1AUR6, C5J7W8, E1BGH8, E1C231, E1C2Z0, E7FGT5, E7FH61, E9Q3L2, F6S215, O08662, O60287, O94822, P42356, P57678, P78527, P97313, Q13315, Q13535, Q14146, Q1RLU1, Q2TAW0, Q3TQQ9, Q3URQ0, Q571H0, Q5RDK1, Q5VW36, Q5WNI9, Q5XI94, Q5ZM41, Q62388, Q6A009, Q6DFV1, Q6PQD5, Q6ZRQ5, Q7SY48, Q86XI2, Q8BKX6
Diamond homologs: A0JM49, B6IFN4, E1C231, O74349, O94822, Q04781, Q555H8, Q65XX2, Q6A009, Q9FGI1, Q7S834, Q9VW09
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | LTN1 | ubiquitination |
| LTN1 | “down-regulates activity” | RPS6KA1 | ubiquitination |
| LTN1 | “form complex” | “RQC complex” | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
244 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 202 |
| Likely benign | 15 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5065 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:28930506:TTGTA:T | acceptor_gain | 1.0000 |
| 21:28930507:TGTA:T | acceptor_gain | 1.0000 |
| 21:28930508:GTA:G | acceptor_gain | 1.0000 |
| 21:28930509:TA:T | acceptor_gain | 1.0000 |
| 21:28930511:C:CC | acceptor_gain | 1.0000 |
| 21:28931319:CATT:C | acceptor_gain | 1.0000 |
| 21:28931321:TT:T | acceptor_gain | 1.0000 |
| 21:28931323:C:CC | acceptor_gain | 1.0000 |
| 21:28931324:T:C | acceptor_loss | 1.0000 |
| 21:28932661:TAAC:T | acceptor_gain | 1.0000 |
| 21:28932662:AACC:A | acceptor_loss | 1.0000 |
| 21:28932665:C:CC | acceptor_gain | 1.0000 |
| 21:28932666:T:A | acceptor_loss | 1.0000 |
| 21:28936520:A:AC | donor_gain | 1.0000 |
| 21:28936521:C:CC | donor_gain | 1.0000 |
| 21:28943260:A:AC | donor_gain | 1.0000 |
| 21:28943261:C:CC | donor_gain | 1.0000 |
| 21:28943261:CAAGG:C | donor_gain | 1.0000 |
| 21:28943665:A:AC | donor_gain | 1.0000 |
| 21:28943666:C:CC | donor_gain | 1.0000 |
| 21:28943789:T:C | donor_gain | 1.0000 |
| 21:28944443:T:A | donor_gain | 1.0000 |
| 21:28944450:A:AC | donor_gain | 1.0000 |
| 21:28944451:C:CC | donor_gain | 1.0000 |
| 21:28946147:CCTA:C | donor_loss | 1.0000 |
| 21:28946148:CTAC:C | donor_loss | 1.0000 |
| 21:28946150:A:AC | donor_gain | 1.0000 |
| 21:28946151:C:A | donor_loss | 1.0000 |
| 21:28946151:C:CC | donor_gain | 1.0000 |
| 21:28946151:CCAA:C | donor_gain | 1.0000 |
AlphaMissense
11628 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 21:28930466:A:C | C1761W | 1.000 |
| 21:28930467:C:G | C1761S | 1.000 |
| 21:28930467:C:T | C1761Y | 1.000 |
| 21:28930468:A:G | C1761R | 1.000 |
| 21:28930468:A:T | C1761S | 1.000 |
| 21:28930475:A:C | C1758W | 1.000 |
| 21:28930476:C:G | C1758S | 1.000 |
| 21:28930476:C:T | C1758Y | 1.000 |
| 21:28930477:A:G | C1758R | 1.000 |
| 21:28930477:A:T | C1758S | 1.000 |
| 21:28930499:A:C | F1750L | 1.000 |
| 21:28930499:A:T | F1750L | 1.000 |
| 21:28930500:A:G | F1750S | 1.000 |
| 21:28930501:A:G | F1750L | 1.000 |
| 21:28930502:C:A | W1749C | 1.000 |
| 21:28930502:C:G | W1749C | 1.000 |
| 21:28930504:A:G | W1749R | 1.000 |
| 21:28930504:A:T | W1749R | 1.000 |
| 21:28931156:A:G | L1746S | 1.000 |
| 21:28931158:G:C | C1745W | 1.000 |
| 21:28931159:C:G | C1745S | 1.000 |
| 21:28931159:C:T | C1745Y | 1.000 |
| 21:28931160:A:G | C1745R | 1.000 |
| 21:28931160:A:T | C1745S | 1.000 |
| 21:28931167:A:C | H1742Q | 1.000 |
| 21:28931167:A:T | H1742Q | 1.000 |
| 21:28931169:G:C | H1742D | 1.000 |
| 21:28931169:G:T | H1742N | 1.000 |
| 21:28931170:G:C | F1741L | 1.000 |
| 21:28931170:G:T | F1741L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000136079 (21:28965073 G>A), RS1000171676 (21:28968164 C>A,T), RS1000273739 (21:28964830 C>G,T), RS1000282944 (21:28962505 G>A), RS1000372099 (21:28955193 G>A,C), RS1000426753 (21:28958899 A>AG), RS1000454190 (21:28993829 C>G), RS1000484633 (21:28927824 C>T), RS1000587547 (21:28950674 C>T), RS1000589731 (21:28941281 A>C), RS1000606100 (21:28963273 G>C), RS1000650670 (21:28971818 C>T), RS1000750843 (21:28933496 C>T), RS1000803896 (21:28994233 C>T), RS1000831243 (21:28955611 G>A)
Disease associations
OMIM: gene MIM:613083 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): neurodevelopmental disorder (MONDO:0700092)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004612_187 | High light scatter reticulocyte percentage of red cells | 3.000000e-09 |
| GCST004619_186 | Reticulocyte fraction of red cells | 5.000000e-09 |
| GCST005026_10 | Initial pursuit acceleration in psychotic disorders | 8.000000e-08 |
| GCST008162_70 | Hip circumference | 9.000000e-07 |
| GCST009391_1693 | Metabolite levels | 6.000000e-07 |
| GCST90002385_571 | High light scatter reticulocyte count | 3.000000e-31 |
| GCST90002386_526 | High light scatter reticulocyte percentage of red cells | 3.000000e-33 |
| GCST90002387_172 | Immature fraction of reticulocytes | 8.000000e-19 |
| GCST90002405_410 | Reticulocyte count | 4.000000e-25 |
| GCST90002406_563 | Reticulocyte fraction of red cells | 2.000000e-27 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0008434 | initial pursuit acceleration |
| EFO:0010344 | cholesteryl ester 18:1 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D065886 | Neurodevelopmental Disorders | F03.625 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066997 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 4 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.12 | Kd | 753.4 | nM | CHEMBL5653589 |
| 6.12 | ED50 | 753.4 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 4 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 | 2148674: Binding affinity to human LTN1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.7534 | uM |
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases methylation, decreases expression, increases expression, affects cotreatment | 3 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Cisplatin | affects cotreatment, decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| myricetin | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| celastrol | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| gedunin | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression, affects cotreatment | 1 |
| Rosiglitazone | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 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 |
|---|---|---|---|
| CHEMBL5651716 | Binding | Binding affinity to human LTN1 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 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8PJ | Ubigene HCT 116 LTN1 KO | Cancer cell line | Male |
| CVCL_E0GS | Ubigene HeLa LTN1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
202 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT04586348 | PHASE4 | UNKNOWN | Prenatal Iodine Supplementation and Early Childhood Neurodevelopment |
| NCT04873115 | PHASE4 | UNKNOWN | Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties, |
| NCT02559102 | PHASE3 | COMPLETED | Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants |
| NCT02757079 | PHASE3 | COMPLETED | Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders |
| NCT06915480 | PHASE3 | RECRUITING | Reducing Missed Appointments |
| NCT07377032 | PHASE3 | RECRUITING | TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders |
| NCT02909959 | PHASE2 | COMPLETED | Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder |
| NCT06081348 | PHASE2 | RECRUITING | Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders |
| NCT06352372 | PHASE2 | COMPLETED | Safety and Efficacy of tPBM for Epileptiform Activity in Autism |
| NCT00503191 | PHASE1 | COMPLETED | NeuroModulation Technique Treatment of Autism |
| NCT04475848 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants |
| NCT06300398 | PHASE1 | COMPLETED | IAMA-6 Oral Dose Study in Healthy Adults |
| NCT01783041 | PHASE2/PHASE3 | COMPLETED | Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants |
| NCT05767385 | PHASE2/PHASE3 | RECRUITING | Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior |
| NCT05675098 | EARLY_PHASE1 | NOT_YET_RECRUITING | Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy |
| NCT00783783 | Not specified | COMPLETED | CYP2D6 Pharmacogenetics in Risperidone-Treated Children |
| NCT01778504 | Not specified | RECRUITING | Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders |
| NCT01850784 | Not specified | UNKNOWN | High Energy Formula Feeding in Infants With Congenital Heart Disease |
| NCT01922791 | Not specified | COMPLETED | Nutrition and Pregnancy Intervention Study |
| NCT01942525 | Not specified | UNKNOWN | Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants |
| NCT02003170 | Not specified | COMPLETED | Etiology and Early Diagnosis of Neurodevelopmental Disorders |
| NCT02118649 | Not specified | ACTIVE_NOT_RECRUITING | Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game |
| NCT02557191 | Not specified | TERMINATED | Biomarkers, Neurodevelopment and Preterm Infants |
| NCT02690675 | Not specified | COMPLETED | Iron Supplement Effect on Child Development |
| NCT02694003 | Not specified | COMPLETED | Better Nights, Better Days for Children With Neurodevelopment Disorders |
| NCT02792894 | Not specified | COMPLETED | Family Networks (FaNs) for Children With Developmental Disorders and Delays |
| NCT02871674 | Not specified | UNKNOWN | Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial |
| NCT02887157 | Not specified | COMPLETED | Analyzing Retinal Microanatomy in ROP |
| NCT02898298 | Not specified | COMPLETED | Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder |
| NCT02912780 | Not specified | UNKNOWN | Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit |
| NCT03023293 | Not specified | COMPLETED | n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum |
| NCT03023644 | Not specified | COMPLETED | Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study |
| NCT03032991 | Not specified | UNKNOWN | Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers |
| NCT03088189 | Not specified | TERMINATED | Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring |
| NCT03096028 | Not specified | COMPLETED | Developmental Origins of Mental Health Disorders |
| NCT03148782 | Not specified | COMPLETED | Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase |
| NCT03172104 | Not specified | COMPLETED | Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age |
| NCT03222375 | Not specified | RECRUITING | SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism |
| NCT03229928 | Not specified | COMPLETED | Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge |
| NCT03232489 | Not specified | UNKNOWN | Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.