TXNL1
gene geneOn this page
Also known as TxlTRP32
Summary
TXNL1 (thioredoxin like 1, HGNC:12436) is a protein-coding gene on chromosome 18q21.31, encoding Thioredoxin-like protein 1 (O43396). Active thioredoxin with a redox potential of about -250 mV.
Enables disulfide oxidoreductase activity. Located in cytosol.
Source: NCBI Gene 9352 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 41 total
- Druggable target: yes
- MANE Select transcript:
NM_004786
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12436 |
| Approved symbol | TXNL1 |
| Name | thioredoxin like 1 |
| Location | 18q21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Txl, TRP32 |
| Ensembl gene | ENSG00000091164 |
| Ensembl biotype | protein_coding |
| OMIM | 603049 |
| Entrez | 9352 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 16 protein_coding, 4 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000217515, ENST00000585497, ENST00000586079, ENST00000586262, ENST00000587613, ENST00000587807, ENST00000588615, ENST00000589329, ENST00000589415, ENST00000589931, ENST00000590954, ENST00000857333, ENST00000857334, ENST00000857335, ENST00000857336, ENST00000857338, ENST00000939690, ENST00000939691, ENST00000939692, ENST00000939693, ENST00000939694
RefSeq mRNA: 1 — MANE Select: NM_004786
NM_004786
CCDS: CCDS11961
Canonical transcript exons
ENST00000217515 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001106452 | 56597209 | 56603056 |
| ENSE00001252552 | 56638343 | 56638592 |
| ENSE00003479523 | 56626361 | 56626457 |
| ENSE00003505098 | 56616245 | 56616314 |
| ENSE00003521487 | 56618004 | 56618126 |
| ENSE00003607270 | 56614424 | 56614596 |
| ENSE00003659882 | 56610993 | 56611097 |
| ENSE00003678911 | 56624288 | 56624461 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 99.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 83.7246 / max 618.7786, expressed in 1827 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172092 | 76.8856 | 1827 |
| 172093 | 4.3979 | 1568 |
| 172094 | 2.1178 | 1292 |
| 172095 | 0.3234 | 166 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.25 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 99.10 | gold quality |
| endothelial cell | CL:0000115 | 99.02 | gold quality |
| hair follicle | UBERON:0002073 | 98.99 | gold quality |
| oral cavity | UBERON:0000167 | 98.71 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.71 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.66 | gold quality |
| biceps brachii | UBERON:0001507 | 98.57 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.56 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 98.56 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 98.54 | gold quality |
| sperm | CL:0000019 | 98.41 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.39 | gold quality |
| male germ cell | CL:0000015 | 98.38 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.35 | gold quality |
| thyroid gland | UBERON:0002046 | 98.28 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.27 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.22 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 98.19 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.12 | gold quality |
| squamous epithelium | UBERON:0006914 | 98.11 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.09 | gold quality |
| jejunal mucosa | UBERON:0000399 | 98.08 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.08 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.07 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 98.05 | gold quality |
| cortical plate | UBERON:0005343 | 98.04 | gold quality |
| seminal vesicle | UBERON:0000998 | 98.01 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.99 | gold quality |
| gingival epithelium | UBERON:0001949 | 97.98 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7052 | yes | 627.89 |
| E-GEOD-124858 | no | 599.25 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
38 targeting TXNL1, 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-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-182-5P | 99.87 | 74.03 | 2589 |
| 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-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-4470 | 99.66 | 69.35 | 1767 |
| HSA-MIR-5197-5P | 99.64 | 69.08 | 1494 |
| HSA-MIR-4666B | 99.64 | 68.69 | 1282 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-199A-5P | 99.51 | 69.71 | 1107 |
| HSA-MIR-199B-5P | 99.51 | 69.74 | 1098 |
| HSA-MIR-7849-3P | 99.47 | 68.17 | 1224 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-580-5P | 99.28 | 70.94 | 1776 |
| HSA-MIR-3191-5P | 99.24 | 66.52 | 1722 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-100-3P | 99.20 | 67.33 | 672 |
| HSA-MIR-3164 | 99.02 | 68.39 | 1071 |
| HSA-MIR-6820-3P | 99.02 | 68.50 | 1035 |
| HSA-MIR-3908 | 98.75 | 67.31 | 1160 |
| HSA-MIR-198 | 98.70 | 67.32 | 920 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-3139 | 96.68 | 66.77 | 652 |
| HSA-MIR-592 | 96.59 | 67.59 | 817 |
| HSA-MIR-410-5P | 96.55 | 66.28 | 459 |
Literature-anchored findings (GeneRIF, showing 9)
- results imply that TRP-1 is a mammalian thioredoxin and plays as a transcriptional repressor through direct binding to the transcription factor B-Myb (PMID:16231315)
- TXNL1 acts as an effector of oxidants or a redox sensor by converting redox changes into changes of GDI capacity to capture Rab5, which in turn modulates fluid phase endocytosis (PMID:17987124)
- Txnl1 is the first example of a direct connection between protein reduction and proteolysis, two major intracellular protein quality control mechanisms. (PMID:19349277)
- TRP32 was identified as a novel subunit of the 26 S proteasome. (PMID:19349280)
- Solution structure of the C-terminal DUF1000 domain of the human thioredoxin-like 1 protein. (PMID:20455272)
- Distinct protein expression patterns, affecting TXNL1 and HDAC2, distinguish aneuploid with poor prognosis from diploid colorectal cancers. (PMID:21290163)
- Results suggest that TRP32 maintains the reduced state of PRL and thus regulates the biological function of PRL. (PMID:23362275)
- TXNL1 is a novel regulatory molecule that inhibits cisplatin resistance in gastric cancer cells. (PMID:24525731)
- TXNL1-XRCC1 is a novel regulatory pathway that has an independent role in cisplatin resistance, indicating a putative drug target for reversing cisplatin resistance in gastric cancer. (PMID:24525731)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | txnl1 | ENSDARG00000011921 |
| mus_musculus | Txnl1 | ENSMUSG00000024583 |
| rattus_norvegicus | Txnl1 | ENSRNOG00000018818 |
| drosophila_melanogaster | Txl | FBGN0035631 |
| caenorhabditis_elegans | txl-1 | WBGENE00021826 |
Paralogs (4): TXN2 (ENSG00000100348), TXN (ENSG00000136810), TXNDC2 (ENSG00000168454), TXNDC8 (ENSG00000204193)
Protein
Protein identifiers
Thioredoxin-like protein 1 — O43396 (reviewed: O43396)
Alternative names: 32 kDa thioredoxin-related protein
All UniProt accessions (7): O43396, K7EKG2, K7EME7, K7EML9, K7EPB7, K7ER96, V9HW51
UniProt curated annotations — full annotation on UniProt →
Function. Active thioredoxin with a redox potential of about -250 mV.
Subunit / interactions. Component of the 19S regulatory cap of the 26S proteasome. Interacts with PSMD14/RPN11. Interacts with, and reduces EEF1A1.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitous.
RefSeq proteins (1): NP_004777* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008979 | Galactose-bd-like_sf | Homologous_superfamily |
| IPR010400 | PITH_dom | Domain |
| IPR013766 | Thioredoxin_domain | Domain |
| IPR017937 | Thioredoxin_CS | Conserved_site |
| IPR036249 | Thioredoxin-like_sf | Homologous_superfamily |
| IPR037047 | PITH_dom_sf | Homologous_superfamily |
Pfam: PF00085, PF06201
UniProt features (38 total): strand 17, helix 9, turn 6, domain 2, initiator methionine 1, chain 1, modified residue 1, disulfide bond 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1GH2 | X-RAY DIFFRACTION | 2.22 |
| 9E8I | ELECTRON MICROSCOPY | 2.87 |
| 9E8H | ELECTRON MICROSCOPY | 2.9 |
| 9E8G | ELECTRON MICROSCOPY | 3.01 |
| 9E8O | ELECTRON MICROSCOPY | 3.1 |
| 9BW4 | ELECTRON MICROSCOPY | 3.3 |
| 9E8J | ELECTRON MICROSCOPY | 3.47 |
| 9E8L | ELECTRON MICROSCOPY | 3.59 |
| 9E8N | ELECTRON MICROSCOPY | 3.62 |
| 9E8K | ELECTRON MICROSCOPY | 4.08 |
| 1WWY | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43396-F1 | 91.66 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 113
Disulfide bonds (1): 34–37
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013418 | RHOBTB2 GTPase cycle |
| R-HSA-9013420 | RHOU GTPase cycle |
| R-HSA-9013422 | RHOBTB1 GTPase cycle |
| R-HSA-9013424 | RHOV GTPase cycle |
| R-HSA-9696264 | RND3 GTPase cycle |
| R-HSA-9696270 | RND2 GTPase cycle |
| R-HSA-9696273 | RND1 GTPase cycle |
MSigDB gene sets: 160 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, RIZKI_TUMOR_INVASIVENESS_3D_DN, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GROSS_HYPOXIA_VIA_ELK3_DN, AAAGACA_MIR511, STONER_ESOPHAGEAL_CARCINOGENESIS_UP, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, ACEVEDO_LIVER_CANCER_UP, AGCTCCT_MIR28, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, MODULE_363, SANSOM_APC_TARGETS, GOMF_DISULFIDE_OXIDOREDUCTASE_ACTIVITY
GO Biological Process (0):
GO Molecular Function (2): protein-disulfide reductase activity (GO:0015035), disulfide oxidoreductase activity (GO:0015036)
GO Cellular Component (4): proteasome complex (GO:0000502), nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 5 |
| RHOBTB GTPase Cycle | 2 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| disulfide oxidoreductase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| oxidoreductase activity, acting on a sulfur group of donors | 1 |
| intracellular protein-containing complex | 1 |
| endopeptidase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1434 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TXNL1 | PSMD14 | O00487 | 876 |
| TXNL1 | PSMD4 | P55036 | 821 |
| TXNL1 | TP53I11 | O14683 | 772 |
| TXNL1 | DAZAP2 | Q15038 | 763 |
| TXNL1 | NFU1 | Q9UMS0 | 762 |
| TXNL1 | AMY1B | P04745 | 740 |
| TXNL1 | PPP1R3C | Q9UQK1 | 720 |
| TXNL1 | AMY2A | P04746 | 712 |
| TXNL1 | TXNDC17 | Q9BRA2 | 688 |
| TXNL1 | HHEX | Q03014 | 681 |
| TXNL1 | IGLL5 | B9A064 | 678 |
| TXNL1 | ADRM1 | Q16186 | 631 |
| TXNL1 | PRDX1 | P35703 | 625 |
| TXNL1 | EPM2A | O95278 | 609 |
| TXNL1 | AMY2B | P19961 | 588 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.840 |
| PSMB2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| PSMD2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PSMD14 | PSMD11 | psi-mi:“MI:0914”(association) | 0.650 |
| USP14 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| TXNL1 | psi-mi:“MI:0915”(physical association) | 0.490 | |
| TXNL1 | GOT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TXNL1 | HSPB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Psmd6 | MIF4GD | psi-mi:“MI:0914”(association) | 0.350 |
| PSMC1 | ZNF561 | psi-mi:“MI:0914”(association) | 0.350 |
| UBE3A | TXNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | WDR91 | psi-mi:“MI:0914”(association) | 0.350 |
| HTRA4 | PSMD12 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSMC4 | PSMD1 | psi-mi:“MI:0914”(association) | 0.350 |
| SPANXN4 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| FAM24B | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC1 | ARVCF | psi-mi:“MI:0914”(association) | 0.350 |
| WFDC9 | TXNL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CACYBP | VPS37C | psi-mi:“MI:0914”(association) | 0.350 |
| CACYBP | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
| ZFAND1 | PSMD11 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (274): TXNL1 (Two-hybrid), TXNL1 (Affinity Capture-RNA), CORO1B (Co-fractionation), DHX9 (Co-fractionation), LSM7 (Co-fractionation), SFN (Co-fractionation), TXNL1 (Co-fractionation), TXNL1 (Affinity Capture-MS), TXNL1 (Proximity Label-MS), TXNL1 (Affinity Capture-MS), TXNL1 (Affinity Capture-MS), TXNL1 (Affinity Capture-MS), TXNL1 (Proximity Label-MS), TXNL1 (Affinity Capture-MS), TXNL1 (Affinity Capture-MS)
ESM2 similar proteins: A2VE21, G3GTP0, O02485, O43396, O43747, O81742, P09874, P11103, P18493, P22892, P26446, P27008, P31669, P49917, P53620, Q29L80, Q4AEF8, Q4HYB8, Q58DV0, Q5R5M2, Q5RCE3, Q5RHR0, Q5ZK01, Q66JI9, Q6DJI5, Q6DKD7, Q6NYX8, Q8BTF7, Q8BWR2, Q8CDN6, Q8X0X6, Q90YB1, Q920B9, Q920J4, Q95ZI6, Q9BRX2, Q9GZP4, Q9I8E6, Q9PUE4, Q9QXK3
Diamond homologs: A2YIW7, C9K7C5, G4NFB7, O14463, O43396, O48897, O64394, O65049, O97508, O97680, P07591, P08628, P08629, P10599, P10639, P11232, P22217, P29429, P29445, P29446, P29447, P29450, P29451, P34723, P42115, P50413, P80028, P82460, P85801, Q0D840, Q0DKF1, Q1RQI9, Q1RQJ0, Q1RQJ1, Q29L80, Q54KN7, Q5R9M3, Q5UR29, Q5WNE3, Q5XHX6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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 |
|---|---|---|---|
| Regulation of activated PAK-2p34 by proteasome mediated degradation | 10 | 49.7× | 3e-13 |
| AUF1 (hnRNP D0) binds and destabilizes mRNA | 11 | 48.8× | 7e-14 |
| Regulation of ornithine decarboxylase (ODC) | 10 | 48.5× | 3e-13 |
| Vpu mediated degradation of CD4 | 10 | 47.4× | 3e-13 |
| Autodegradation of the E3 ubiquitin ligase COP1 | 10 | 47.4× | 3e-13 |
| Ubiquitin-dependent degradation of Cyclin D | 10 | 47.4× | 3e-13 |
| Cross-presentation of soluble exogenous antigens (endosomes) | 10 | 45.3× | 4e-13 |
| Vif-mediated degradation of APOBEC3G | 10 | 45.3× | 4e-13 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 13 | 9.6× | 4e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 25 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1710 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:56604398:T:TA | donor_gain | 1.0000 |
| 18:56610986:AACT:A | donor_loss | 1.0000 |
| 18:56610987:ACTTA:A | donor_loss | 1.0000 |
| 18:56610988:CT:C | donor_loss | 1.0000 |
| 18:56610989:T:TC | donor_loss | 1.0000 |
| 18:56610990:TACT:T | donor_loss | 1.0000 |
| 18:56610991:A:AC | donor_gain | 1.0000 |
| 18:56610991:ACTCG:A | donor_loss | 1.0000 |
| 18:56610992:C:A | donor_loss | 1.0000 |
| 18:56610992:C:CC | donor_gain | 1.0000 |
| 18:56610992:CT:C | donor_gain | 1.0000 |
| 18:56610992:CTCGT:C | donor_gain | 1.0000 |
| 18:56611095:TAT:T | acceptor_gain | 1.0000 |
| 18:56614422:A:AC | donor_gain | 1.0000 |
| 18:56614423:C:CC | donor_gain | 1.0000 |
| 18:56614423:CA:C | donor_gain | 1.0000 |
| 18:56614451:A:AC | donor_gain | 1.0000 |
| 18:56614452:A:C | donor_gain | 1.0000 |
| 18:56614457:A:C | donor_gain | 1.0000 |
| 18:56614479:T:TA | donor_gain | 1.0000 |
| 18:56614546:CCA:C | acceptor_gain | 1.0000 |
| 18:56614547:C:T | acceptor_gain | 1.0000 |
| 18:56614547:CA:C | acceptor_gain | 1.0000 |
| 18:56614592:CTGAC:C | acceptor_gain | 1.0000 |
| 18:56617999:ATTAC:A | donor_loss | 1.0000 |
| 18:56618000:TTA:T | donor_loss | 1.0000 |
| 18:56618001:TACCT:T | donor_loss | 1.0000 |
| 18:56618002:A:C | donor_loss | 1.0000 |
| 18:56618003:C:CA | donor_loss | 1.0000 |
| 18:56618122:TCCAT:T | acceptor_gain | 1.0000 |
AlphaMissense
1937 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:56611000:A:C | F278C | 1.000 |
| 18:56611000:A:G | F278S | 1.000 |
| 18:56611033:C:A | G267V | 1.000 |
| 18:56611033:C:T | G267D | 1.000 |
| 18:56611034:C:G | G267R | 1.000 |
| 18:56611090:A:T | V248D | 1.000 |
| 18:56614437:A:T | V241D | 1.000 |
| 18:56614452:A:T | V236D | 1.000 |
| 18:56614541:A:C | F206L | 1.000 |
| 18:56614541:A:T | F206L | 1.000 |
| 18:56614542:A:C | F206C | 1.000 |
| 18:56614543:A:G | F206L | 1.000 |
| 18:56616281:T:C | K176E | 1.000 |
| 18:56616283:A:T | V175D | 1.000 |
| 18:56616310:A:G | L166P | 1.000 |
| 18:56616313:A:G | L165P | 1.000 |
| 18:56618020:G:A | S159F | 1.000 |
| 18:56618021:A:G | S159P | 1.000 |
| 18:56618083:A:G | L138P | 1.000 |
| 18:56618085:A:C | C137W | 1.000 |
| 18:56618087:A:G | C137R | 1.000 |
| 18:56624409:C:G | R83P | 1.000 |
| 18:56624427:G:T | P77H | 1.000 |
| 18:56624428:G:A | P77S | 1.000 |
| 18:56624454:G:T | A68D | 1.000 |
| 18:56626380:A:T | V59D | 1.000 |
| 18:56626389:A:G | F56S | 1.000 |
| 18:56638354:G:C | F29L | 1.000 |
| 18:56638354:G:T | F29L | 1.000 |
| 18:56638356:A:G | F29L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000050059 (18:56620578 G>A), RS1000104588 (18:56622248 T>C,G), RS1000141195 (18:56625541 G>T), RS1000147356 (18:56637727 T>C), RS1000258605 (18:56600360 G>T), RS1000301741 (18:56633218 C>A,T), RS1000369781 (18:56637952 T>C), RS1000482227 (18:56636113 T>C), RS1000508333 (18:56630634 T>C), RS1000518408 (18:56618612 C>T), RS1000577999 (18:56599020 C>T), RS1000665777 (18:56626786 AC>A), RS1000701095 (18:56636478 A>G), RS1000756482 (18:56632116 T>C,G), RS1000856464 (18:56612217 A>G)
Disease associations
OMIM: gene MIM:603049 | 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 |
|---|---|---|
| GCST002682_14 | Tourette’s syndrome or obsessive-compulsive disorder | 4.000000e-06 |
| GCST006479_103 | Diverticular disease | 9.000000e-06 |
| GCST007001_14 | Cerebrospinal AB1-42 levels in normal cognition | 9.000000e-07 |
| GCST007325_167 | General risk tolerance (MTAG) | 9.000000e-09 |
| GCST007326_21 | Number of sexual partners | 3.000000e-08 |
| GCST007327_168 | Smoking status (ever vs never smokers) | 2.000000e-10 |
| GCST007565_191 | Morning person | 5.000000e-14 |
| GCST007576_317 | Chronotype | 5.000000e-14 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295663 (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 |
|---|---|---|---|---|
| 6.58 | Kd | 259.8 | nM | CHEMBL5653589 |
| 6.58 | ED50 | 259.8 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 3 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 | 2149694: Binding affinity to human TXNL1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.2598 | uM |
CTD chemical–gene interactions
55 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 4 |
| Valproic Acid | affects expression, increases expression | 4 |
| cobaltous chloride | increases expression | 2 |
| Copper | affects binding, decreases expression, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | increases methylation, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| beta-Naphthoflavone | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | increases expression | 1 |
| bisphenol F | increases expression | 1 |
| LGM2605 | increases reaction, increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | decreases reaction, decreases expression, increases degradation, affects binding | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| ochratoxin A | increases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| epigallocatechin gallate | decreases expression | 1 |
| microcystin RR | decreases expression | 1 |
| benzyloxycarbonylleucyl-leucyl-leucine aldehyde | decreases reaction, increases degradation | 1 |
| tebuconazole | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118662 | Binding | Binding affinity to TXNL1 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3KE | Abcam HEK293T TXNL1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): obsessive-compulsive disorder