LANCL1
gene geneOn this page
Also known as p40
Summary
LANCL1 (LanC like glutathione S-transferase 1, HGNC:6508) is a protein-coding gene on chromosome 2q34, encoding Glutathione S-transferase LANCL1 (O43813). Functions as a glutathione transferase.
This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified.
Source: NCBI Gene 10314 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 77 total
- Druggable target: yes
- MANE Select transcript:
NM_006055
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6508 |
| Approved symbol | LANCL1 |
| Name | LanC like glutathione S-transferase 1 |
| Location | 2q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | p40 |
| Ensembl gene | ENSG00000115365 |
| Ensembl biotype | protein_coding |
| OMIM | 604155 |
| Entrez | 10314 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 17 protein_coding, 1 nonsense_mediated_decay
ENST00000233714, ENST00000412863, ENST00000431941, ENST00000441020, ENST00000443314, ENST00000448951, ENST00000450366, ENST00000453956, ENST00000853653, ENST00000853654, ENST00000853655, ENST00000853656, ENST00000853657, ENST00000915319, ENST00000961902, ENST00000961903, ENST00000961904, ENST00000961905
RefSeq mRNA: 3 — MANE Select: NM_006055
NM_001136574, NM_001136575, NM_006055
CCDS: CCDS2392
Canonical transcript exons
ENST00000450366 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000785346 | 210441308 | 210441443 |
| ENSE00000785347 | 210455107 | 210455314 |
| ENSE00000785348 | 210471959 | 210472076 |
| ENSE00000796767 | 210476316 | 210476412 |
| ENSE00001610318 | 210440598 | 210440744 |
| ENSE00001688586 | 210476620 | 210476759 |
| ENSE00003894327 | 210431251 | 210434563 |
| ENSE00003991027 | 210436216 | 210436392 |
| ENSE00003991029 | 210435387 | 210435459 |
| ENSE00003991030 | 210437690 | 210437872 |
Expression profiles
Bgee: expression breadth ubiquitous, 301 present calls, max score 99.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.6583 / max 416.2548, expressed in 1771 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 33482 | 15.5900 | 1749 |
| 33484 | 1.7712 | 781 |
| 33481 | 1.1331 | 518 |
| 33483 | 0.1641 | 56 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.30 | gold quality |
| corpus callosum | UBERON:0002336 | 99.17 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.11 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 99.06 | gold quality |
| inferior olivary complex | UBERON:0002127 | 99.03 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.86 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 98.86 | gold quality |
| postcentral gyrus | UBERON:0002581 | 98.75 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 98.74 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 98.71 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.69 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 98.67 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.66 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.64 | gold quality |
| parietal lobe | UBERON:0001872 | 98.63 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 98.61 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.58 | gold quality |
| pons | UBERON:0000988 | 98.56 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.29 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 98.23 | gold quality |
| spinal cord | UBERON:0002240 | 98.19 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 98.14 | gold quality |
| occipital lobe | UBERON:0002021 | 98.04 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 97.98 | gold quality |
| primary visual cortex | UBERON:0002436 | 97.92 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 97.85 | gold quality |
| cranial nerve II | UBERON:0000941 | 97.71 | gold quality |
| cerebellar vermis | UBERON:0004720 | 97.68 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.63 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 97.58 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-84465 | yes | 9.62 |
| E-ANND-3 | yes | 6.80 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
159 targeting LANCL1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
Literature-anchored findings (GeneRIF, showing 8)
- the crystal structures of human LanCL1, both free of and complexed with glutathione, revealing glutathione binding to a zinc ion at the putative active site formed by conserved GxxG motifs (PMID:19528316)
- Lanthionine synthetase C-like protein 1 interacts with and inhibits cystathionine beta-synthase: a target for neuronal antioxidant defense. (PMID:22891245)
- Results suggest that LanCL1 protects cells from oxidative stress, and promotes cell proliferation. LanCL1 reduces cell death via suppression of JNK signaling pathway. (PMID:29416001)
- Oxygen and glucose deprivation (OGD) exposure induced a temporal increase and persistent decreases in the expression of LanCL1 at both mRNA and protein levels. Overexpression of LanCL1 by lentivirus transfection preserved cell viability, reduced lactate dehydrogenase release and attenuated apoptosis after OGD. LanCL1 stimulated mitochondrial enzyme activities and SOD2 deacetylation in a Sirt3-dependent manner. (PMID:30075199)
- Stable knockout of lanthionine synthase C-like protein-1 (LanCL1) from HeLa cells indicates a role for LanCL1 in redox regulation of deubiquitinating enzymes. (PMID:33049334)
- LANCL1 binds abscisic acid and stimulates glucose transport and mitochondrial respiration in muscle cells via the AMPK/PGC-1alpha/Sirt1 pathway. (PMID:34098144)
- The ABA/LANCL1/2 Hormone/Receptor System Controls Adipocyte Browning and Energy Expenditure. (PMID:36834900)
- LANCL1, a cell surface protein, promotes liver tumor initiation through FAM49B-Rac1 axis to suppress oxidative stress. (PMID:37540188)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lancl1 | ENSDARG00000013741 |
| mus_musculus | Lancl1 | ENSMUSG00000026000 |
| rattus_norvegicus | Lancl1 | ENSRNOG00000013557 |
| drosophila_melanogaster | CG2061 | FBGN0027498 |
Paralogs (2): LANCL2 (ENSG00000132434), LANCL3 (ENSG00000147036)
Protein
Protein identifiers
Glutathione S-transferase LANCL1 — O43813 (reviewed: O43813)
Alternative names: 40 kDa erythrocyte membrane protein, LanC-like protein 1
All UniProt accessions (5): O43813, E9PHS0, F8WDS9, H7C2E3, Q53TN2
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a glutathione transferase. Catalyzes conjugation of the glutathione (GSH) to artificial substrates 1-chloro-2,4-dinitrobenzene (CDNB) and p-nitrophenyl acetate. Mitigates neuronal oxidative stress during normal postnatal development and in response to oxidative stresses probably through GSH antioxidant defense mechanism. May play a role in EPS8 signaling. Binds glutathione.
Subunit / interactions. Interacts with the C-terminal of STOM. Interacts with the EPS8 SH3 domain. Interaction with EPS8 is inhibited by glutathione binding. (Microbial infection) Interacts with P.falciparum SBP1.
Subcellular location. Cytoplasm. Cell membrane.
Tissue specificity. Detected in erythrocytes, brain, kidney, testis, ovary, heart, lung, placenta and spleen (at protein level). Ubiquitous. Strongly expressed in brain, spinal cord, pituitary gland, kidney, heart, skeletal muscle, pancreas, ovary and testis.
Miscellaneous. Was originally thought to be a G-protein coupled receptor.
Similarity. Belongs to the LanC-like protein family.
RefSeq proteins (3): NP_001130046, NP_001130047, NP_006046* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007822 | LANC-like | Family |
| IPR012341 | 6hp_glycosidase-like_sf | Homologous_superfamily |
| IPR020464 | LanC-like_prot_euk | Family |
Pfam: PF05147
Catalyzed reactions (Rhea), 2 shown:
- RX + glutathione = an S-substituted glutathione + a halide anion + H(+) (RHEA:16437)
- 1-chloro-2,4-dinitrobenzene + glutathione = 2,4-dinitrophenyl-S-glutathione + chloride + H(+) (RHEA:51220)
UniProt features (45 total): helix 20, turn 10, binding site 5, mutagenesis site 4, strand 2, modified residue 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8D19 | X-RAY DIFFRACTION | 1.52 |
| 8CZL | X-RAY DIFFRACTION | 1.58 |
| 8D0V | X-RAY DIFFRACTION | 1.79 |
| 8CZK | X-RAY DIFFRACTION | 1.91 |
| 3E6U | X-RAY DIFFRACTION | 2.6 |
| 3E73 | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43813-F1 | 97.52 | 0.98 |
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 (5): 276; 317; 322; 323; 364–367
Post-translational modifications (2): 2, 142
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 317 | loss of glutathione binding. |
| 322 | loss of glutathione binding. |
| 364 | loss of glutathione binding. |
| 4 | loss of glutathione binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 225 (showing top):
GCM_MAP4K4, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GCM_PTPRD, MODULE_522, MODULE_64, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOMF_GLUTATHIONE_TRANSFERASE_ACTIVITY, GOBP_PEPTIDE_METABOLIC_PROCESS, MODULE_289, GOBP_CELLULAR_RESPONSE_TO_TOXIC_SUBSTANCE, MARTINEZ_RB1_TARGETS_DN, PETRETTO_HEART_MASS_QTL_CIS_DN, GOBP_DETOXIFICATION, GOBP_CARBOHYDRATE_METABOLIC_PROCESS
GO Biological Process (4): carbohydrate metabolic process (GO:0005975), G protein-coupled receptor signaling pathway (GO:0007186), peptide modification (GO:0031179), cellular detoxification (GO:1990748)
GO Molecular Function (9): glutathione transferase activity (GO:0004364), G protein-coupled receptor activity (GO:0004930), zinc ion binding (GO:0008270), SH3 domain binding (GO:0017124), glutathione binding (GO:0043295), low-density lipoprotein particle receptor binding (GO:0050750), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (3): cytoplasm (GO:0005737), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| peptide metabolic process | 1 |
| cellular process | 1 |
| cellular response to toxic substance | 1 |
| detoxification | 1 |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | 1 |
| transmembrane signaling receptor activity | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| transition metal ion binding | 1 |
| protein domain specific binding | 1 |
| anion binding | 1 |
| modified amino acid binding | 1 |
| oligopeptide binding | 1 |
| sulfur compound binding | 1 |
| lipoprotein particle receptor binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
730 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LANCL1 | EPS8 | Q12929 | 848 |
| LANCL1 | STOM | P27105 | 803 |
| LANCL1 | ALDH16A1 | Q8IZ83 | 603 |
| LANCL1 | ACTR10 | Q9NZ32 | 565 |
| LANCL1 | ECD | O95905 | 506 |
| LANCL1 | KANSL1L | A0AUZ9 | 500 |
| LANCL1 | NGF | P01138 | 486 |
| LANCL1 | STXBP1 | P61764 | 461 |
| LANCL1 | ROGDI | Q9GZN7 | 460 |
| LANCL1 | PHF24 | Q9UPV7 | 457 |
| LANCL1 | ERI3 | O43414 | 446 |
| LANCL1 | STYXL1 | Q9Y6J8 | 442 |
| LANCL1 | SMYD4 | Q8IYR2 | 427 |
| LANCL1 | COPS7A | Q9UBW8 | 416 |
| LANCL1 | RPS9 | P46781 | 409 |
IntAct
98 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| LANCL1 | HTT | psi-mi:“MI:0915”(physical association) | 0.670 |
| AURKB | SEC16A | psi-mi:“MI:0914”(association) | 0.570 |
| LANCL1 | BAIAP2L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LANCL1 | Eps8 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Eps8 | LANCL1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AIFM1 | HAX1 | psi-mi:“MI:0914”(association) | 0.420 |
| RAB11A | LANCL1 | psi-mi:“MI:0914”(association) | 0.420 |
| RAB11A | LANCL1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| TNFAIP3 | LRRIQ3 | psi-mi:“MI:0914”(association) | 0.420 |
| LANCL1 | YWHAZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| PTPRH | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| LMNA | ZNF724 | psi-mi:“MI:0914”(association) | 0.350 |
| RAB5A | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| RAB9A | LANCL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SMARCB1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (158): LANCL1 (Affinity Capture-MS), ALDH16A1 (Affinity Capture-MS), DERA (Affinity Capture-MS), TBC1D9 (Affinity Capture-MS), TBC1D9B (Affinity Capture-MS), FIGN (Affinity Capture-MS), MYO7A (Affinity Capture-MS), IPP (Affinity Capture-MS), OCIAD1 (Affinity Capture-MS), UBN2 (Affinity Capture-MS), LANCL1 (Affinity Capture-MS), LANCL1 (Affinity Capture-MS), LANCL1 (Affinity Capture-MS), LANCL1 (Affinity Capture-MS), FIGN (Affinity Capture-MS)
ESM2 similar proteins: A1A5Y5, A2ACP1, B3MZN7, B3NY19, B4PYH5, B4S3A5, F1MVX2, F4IEM5, O01824, O43813, O65583, O74878, O89112, O94710, P56523, Q08DA5, Q25566, Q26609, Q28901, Q28D40, Q290Z2, Q29HZ1, Q2KNB7, Q55D85, Q5JVF3, Q5SRH9, Q5U3P0, Q623S8, Q6CUZ3, Q7K3B9, Q7K3M5, Q80VY9, Q8VYB2, Q8VZQ6, Q90ZL2, Q94263, Q9FJN7, Q9FKS0, Q9H6R0, Q9JJK2
Diamond homologs: F1MVX2, F4IEM5, O43813, O89112, Q29HZ1, Q6ZV70, Q8CD19, Q8VZQ6, Q90ZL2, Q9JJK2, Q9NS86, Q9QX69, Q9Y0Y7, Q9FJN7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 100 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell surface receptor protein tyrosine kinase signaling pathway | 6 | 11.8× | 7e-03 |
| cell migration | 9 | 6.3× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 69 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1525 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:210435383:ATAC:A | donor_loss | 1.0000 |
| 2:210435384:TACCT:T | donor_loss | 1.0000 |
| 2:210435385:AC:A | donor_loss | 1.0000 |
| 2:210435455:GCAAA:G | acceptor_gain | 1.0000 |
| 2:210435456:CAAA:C | acceptor_gain | 1.0000 |
| 2:210435456:CAAAC:C | acceptor_gain | 1.0000 |
| 2:210435460:C:CC | acceptor_gain | 1.0000 |
| 2:210436239:T:TA | donor_gain | 1.0000 |
| 2:210437868:CTGGG:C | acceptor_gain | 1.0000 |
| 2:210437873:C:CC | acceptor_gain | 1.0000 |
| 2:210440592:CCTTA:C | donor_loss | 1.0000 |
| 2:210440593:CTTA:C | donor_loss | 1.0000 |
| 2:210440595:TA:T | donor_loss | 1.0000 |
| 2:210440597:C:CT | donor_loss | 1.0000 |
| 2:210440597:CCTG:C | donor_gain | 1.0000 |
| 2:210440740:CAAAT:C | acceptor_gain | 1.0000 |
| 2:210440741:AAAT:A | acceptor_gain | 1.0000 |
| 2:210440742:AAT:A | acceptor_gain | 1.0000 |
| 2:210440743:AT:A | acceptor_gain | 1.0000 |
| 2:210440743:ATCTA:A | acceptor_loss | 1.0000 |
| 2:210440745:C:CC | acceptor_gain | 1.0000 |
| 2:210440745:CTAC:C | acceptor_loss | 1.0000 |
| 2:210440746:T:A | acceptor_loss | 1.0000 |
| 2:210441307:CCTG:C | donor_gain | 1.0000 |
| 2:210441439:TTAGC:T | acceptor_gain | 1.0000 |
| 2:210455312:TAC:T | acceptor_gain | 1.0000 |
| 2:210455315:CT:C | acceptor_loss | 1.0000 |
| 2:210455316:T:A | acceptor_loss | 1.0000 |
| 2:210471961:G:A | donor_gain | 1.0000 |
| 2:210472074:CAG:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000098809 (2:210465277 A>G), RS1000114454 (2:210437042 T>A,C), RS1000180677 (2:210476736 C>G,T), RS1000208499 (2:210476959 C>G,T), RS1000255390 (2:210475842 A>G), RS1000341409 (2:210443084 T>C), RS1000396203 (2:210436617 C>A), RS1000452765 (2:210435161 A>G), RS1000520651 (2:210448831 A>T), RS1000600017 (2:210460155 T>C), RS1000654889 (2:210449202 A>G), RS1000686277 (2:210461703 T>C), RS1000754035 (2:210454857 C>T), RS1000799596 (2:210445923 G>A), RS1000862418 (2:210447288 T>C)
Disease associations
OMIM: gene MIM:604155 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006585_264 | Blood protein levels | 4.000000e-14 |
| GCST009391_14 | Metabolite levels | 2.000000e-11 |
| GCST009391_15 | Metabolite levels | 5.000000e-08 |
| GCST009391_220 | Metabolite levels | 2.000000e-58 |
| GCST009391_221 | Metabolite levels | 8.000000e-19 |
| GCST009391_531 | Metabolite levels | 3.000000e-08 |
| GCST010988_200 | Adult body size | 3.000000e-09 |
| GCST90026414_12 | Severe insulin-resistant type 2 diabetes | 8.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009767 | glycine measurement |
| EFO:0010528 | quinolinic acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066415 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.27 | Kd | 53.19 | nM | CHEMBL5653589 |
| 7.27 | ED50 | 53.19 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148637: Binding affinity to human LANCL1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0532 | uM |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects expression, affects binding, increases reaction, increases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| Cisplatin | affects expression, affects response to substance | 2 |
| Etoposide | decreases expression, affects response to substance | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| LDN 193189 | increases expression, affects cotreatment | 1 |
| bisphenol AF | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Isoniazid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Mercury | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 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 |
|---|---|---|---|
| CHEMBL5651679 | Binding | Binding affinity to human LANCL1 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
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1VP | Abcam HeLa LANCL1 KO | Cancer cell line | Female |
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.