SLC43A1
gene geneOn this page
Also known as R00504PB39
Summary
SLC43A1 (solute carrier family 43 member 1, HGNC:9225) is a protein-coding gene on chromosome 11q12.1, encoding Large neutral amino acids transporter small subunit 3 (O75387). Uniport that mediates the transport of neutral amino acids such as L-leucine, L-isoleucine, L-valine, and L-phenylalanine.
SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).
Source: NCBI Gene 8501 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 107 total
- Druggable target: yes
- MANE Select transcript:
NM_003627
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9225 |
| Approved symbol | SLC43A1 |
| Name | solute carrier family 43 member 1 |
| Location | 11q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | R00504, PB39 |
| Ensembl gene | ENSG00000149150 |
| Ensembl biotype | protein_coding |
| OMIM | 603733 |
| Entrez | 8501 |
Gene structure
Transcript identifiers
Ensembl transcripts: 38 — 33 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000278426, ENST00000524995, ENST00000525764, ENST00000528450, ENST00000529452, ENST00000530159, ENST00000533066, ENST00000533263, ENST00000533515, ENST00000534105, ENST00000901378, ENST00000901379, ENST00000901380, ENST00000901381, ENST00000901382, ENST00000901383, ENST00000901384, ENST00000901385, ENST00000901386, ENST00000901387, ENST00000901388, ENST00000901389, ENST00000930667, ENST00000930668, ENST00000930669, ENST00000930670, ENST00000930671, ENST00000930672, ENST00000930673, ENST00000930674, ENST00000930675, ENST00000930676, ENST00000930677, ENST00000967927, ENST00000967928, ENST00000967929, ENST00000967930, ENST00000967931
RefSeq mRNA: 2 — MANE Select: NM_003627
NM_001198810, NM_003627
CCDS: CCDS7958
Canonical transcript exons
ENST00000278426 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001027282 | 57513958 | 57514124 |
| ENSE00001027283 | 57487095 | 57487218 |
| ENSE00002146364 | 57484534 | 57485242 |
| ENSE00002167073 | 57515444 | 57515702 |
| ENSE00003490019 | 57496031 | 57496164 |
| ENSE00003500220 | 57497753 | 57497845 |
| ENSE00003554107 | 57500779 | 57500855 |
| ENSE00003605508 | 57491716 | 57491862 |
| ENSE00003613926 | 57500988 | 57501043 |
| ENSE00003656019 | 57489251 | 57489392 |
| ENSE00003661739 | 57491591 | 57491626 |
| ENSE00003662775 | 57488916 | 57488989 |
| ENSE00003685436 | 57491224 | 57491362 |
| ENSE00003789082 | 57501152 | 57501329 |
| ENSE00003789453 | 57493993 | 57494171 |
Expression profiles
Bgee: expression breadth ubiquitous, 198 present calls, max score 98.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.2562 / max 289.7168, expressed in 1543 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119792 | 8.7415 | 1476 |
| 119789 | 0.9927 | 391 |
| 119787 | 0.8917 | 363 |
| 119788 | 0.3360 | 154 |
| 119791 | 0.1752 | 58 |
| 119790 | 0.1191 | 46 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 98.75 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.81 | gold quality |
| liver | UBERON:0002107 | 92.98 | gold quality |
| pancreas | UBERON:0001264 | 91.71 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.29 | gold quality |
| body of stomach | UBERON:0001161 | 90.66 | gold quality |
| right ovary | UBERON:0002118 | 89.84 | gold quality |
| left ovary | UBERON:0002119 | 88.86 | gold quality |
| gall bladder | UBERON:0002110 | 88.79 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.16 | gold quality |
| stomach | UBERON:0000945 | 87.96 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.46 | gold quality |
| stromal cell of endometrium | CL:0002255 | 86.79 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 86.56 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 86.08 | gold quality |
| body of uterus | UBERON:0009853 | 86.00 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.99 | gold quality |
| lower esophagus | UBERON:0013473 | 85.94 | gold quality |
| apex of heart | UBERON:0002098 | 85.91 | gold quality |
| gastrocnemius | UBERON:0001388 | 85.57 | gold quality |
| muscle of leg | UBERON:0001383 | 85.47 | gold quality |
| fundus of stomach | UBERON:0001160 | 85.21 | gold quality |
| ovary | UBERON:0000992 | 84.67 | gold quality |
| endocervix | UBERON:0000458 | 84.38 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 84.38 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 84.35 | gold quality |
| skin of leg | UBERON:0001511 | 84.15 | gold quality |
| right lung | UBERON:0002167 | 84.12 | gold quality |
| omental fat pad | UBERON:0010414 | 84.07 | gold quality |
| peritoneum | UBERON:0002358 | 84.02 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81547 | yes | 21.36 |
| E-ANND-3 | yes | 19.93 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
32 targeting SLC43A1, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-623 | 99.76 | 68.16 | 1170 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-6832-3P | 99.52 | 70.44 | 1726 |
| HSA-MIR-8064 | 99.45 | 66.92 | 875 |
| HSA-MIR-670-3P | 99.03 | 68.88 | 2404 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-320A-5P | 98.88 | 66.75 | 1248 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-12125 | 98.59 | 67.54 | 1044 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-1248 | 98.47 | 67.54 | 1314 |
| HSA-MIR-6516-5P | 98.42 | 70.19 | 1551 |
| HSA-MIR-6831-5P | 98.26 | 67.20 | 990 |
| HSA-MIR-8057 | 97.64 | 66.54 | 897 |
| HSA-MIR-6514-3P | 97.52 | 66.50 | 808 |
| HSA-MIR-214-5P | 97.34 | 66.50 | 617 |
| HSA-MIR-3649 | 96.85 | 64.10 | 340 |
| HSA-MIR-6822-3P | 96.60 | 66.06 | 680 |
| HSA-MIR-6888-5P | 95.89 | 63.78 | 831 |
| HSA-MIR-6805-5P | 95.79 | 64.86 | 670 |
| HSA-MIR-1237-5P | 95.38 | 62.21 | 451 |
Literature-anchored findings (GeneRIF, showing 1)
- LAT3 is a transporter subserving system L2 and should denote a new family of organic solute transporters (PMID:12930836)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc43a1a | ENSDARG00000037393 |
| danio_rerio | slc43a1b | ENSDARG00000037748 |
| mus_musculus | Slc43a1 | ENSMUSG00000027075 |
| rattus_norvegicus | Slc43a1 | ENSRNOG00000008243 |
Paralogs (1): SLC43A2 (ENSG00000167703)
Protein
Protein identifiers
Large neutral amino acids transporter small subunit 3 — O75387 (reviewed: O75387)
Alternative names: L-type amino acid transporter 3, Prostate cancer overexpressed gene 1 protein, Solute carrier family 43 member 1
All UniProt accessions (6): O75387, E9PJ68, E9PJT8, E9PR87, E9PRF0, H0YEH0
UniProt curated annotations — full annotation on UniProt →
Function. Uniport that mediates the transport of neutral amino acids such as L-leucine, L-isoleucine, L-valine, and L-phenylalanine. The transport activity is sodium ions-independent, electroneutral and mediated by a facilitated diffusion.
Subcellular location. Cell membrane. Apical cell membrane. Endoplasmic reticulum membrane.
Tissue specificity. Ubiquitously expressed in fetus and adult. Highest expression in adult pancreas, liver, skeletal muscle. In fetus, highest expression in liver and lower levels in kidney, and lung. Exclusively expressed in the glomeruli along the glomerular capillary walls.
Similarity. Belongs to the SLC43A transporter (TC 2.A.1.44) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75387-1 | 1, 2.3kb | yes |
| O75387-2 | 2, 5kb |
RefSeq proteins (2): NP_001185739, NP_003618* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011701 | MFS | Family |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Pfam: PF07690
Catalyzed reactions (Rhea), 6 shown:
- L-phenylalanine(in) = L-phenylalanine(out) (RHEA:27950)
- L-valine(in) = L-valine(out) (RHEA:29703)
- L-methionine(in) = L-methionine(out) (RHEA:70939)
- L-isoleucine(in) = L-isoleucine(out) (RHEA:70943)
- L-leucine(in) = L-leucine(out) (RHEA:73011)
- D-leucine(in) = D-leucine(out) (RHEA:73015)
UniProt features (22 total): transmembrane region 12, modified residue 3, glycosylation site 3, sequence variant 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75387-F1 | 79.71 | 0.53 |
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 (3): 237, 262, 267
Glycosylation sites (3): 57, 212, 229
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-352230 | Amino acid transport across the plasma membrane |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425393 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 214 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, MODULE_255, XU_GH1_AUTOCRINE_TARGETS_UP, MODULE_45, MODULE_317, MODULE_16, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, KANG_FLUOROURACIL_RESISTANCE_DN, NFKB_C, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_AMINE_TRANSPORT, MYCMAX_01
GO Biological Process (9): amino acid transport (GO:0006865), neutral amino acid transport (GO:0015804), isoleucine transport (GO:0015818), L-leucine transport (GO:0015820), negative regulation of amino acid transport (GO:0051956), L-valine transmembrane transport (GO:1903785), negative regulation of L-leucine import across plasma membrane (GO:1905533), L-amino acid transport (GO:0015807), transmembrane transport (GO:0055085)
GO Molecular Function (8): L-valine transmembrane transporter activity (GO:0005304), amino acid transmembrane transporter activity (GO:0015171), neutral L-amino acid transmembrane transporter activity (GO:0015175), L-amino acid transmembrane transporter activity (GO:0015179), L-isoleucine transmembrane transporter activity (GO:0015188), L-leucine transmembrane transporter activity (GO:0015190), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)
GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), apical plasma membrane (GO:0016324), podocyte foot (GO:0098846), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| SLC-mediated transport of amino acids | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| amino acid transport | 3 |
| neutral amino acid transport | 3 |
| neutral L-amino acid transmembrane transporter activity | 3 |
| L-amino acid transmembrane transporter activity | 3 |
| branched-chain amino acid transmembrane transporter activity | 3 |
| transport | 2 |
| branched-chain amino acid transport | 2 |
| L-alpha-amino acid transmembrane transport | 2 |
| amino acid transmembrane transporter activity | 2 |
| L-amino acid transport | 1 |
| negative regulation of amine transport | 1 |
| regulation of amino acid transport | 1 |
| valine transport | 1 |
| negative regulation of organic acid transport | 1 |
| negative regulation of transmembrane transport | 1 |
| negative regulation of amino acid transport | 1 |
| L-leucine import across plasma membrane | 1 |
| regulation of L-leucine import across plasma membrane | 1 |
| carboxylic acid transport | 1 |
| nitrogen compound transport | 1 |
| cellular process | 1 |
| L-valine transmembrane transport | 1 |
| amino acid transmembrane transport | 1 |
| transmembrane transporter activity | 1 |
| carboxylic acid transmembrane transporter activity | 1 |
| binding | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| plasma membrane bounded cell projection | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
710 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC43A1 | SLC7A8 | Q9UHI5 | 943 |
| SLC43A1 | SLC3A2 | P08195 | 937 |
| SLC43A1 | SLC7A5 | Q01650 | 913 |
| SLC43A1 | SLC7A6 | Q92536 | 647 |
| SLC43A1 | SLC1A5 | Q15758 | 548 |
| SLC43A1 | SLC38A2 | Q96QD8 | 543 |
| SLC43A1 | SLC38A1 | Q9H2H9 | 506 |
| SLC43A1 | SLC16A10 | Q8TF71 | 490 |
| SLC43A1 | SLC6A15 | Q9H2J7 | 489 |
| SLC43A1 | SLC7A9 | P82251 | 455 |
| SLC43A1 | SLC7A7 | Q9UM01 | 455 |
| SLC43A1 | SLC2A4RG | Q9NR83 | 418 |
| SLC43A1 | SLC7A2 | P52569 | 416 |
| SLC43A1 | SLC1A4 | P43007 | 412 |
| SLC43A1 | SLC36A1 | Q7Z2H8 | 410 |
IntAct
14 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| SLC43A1 | BACH2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YIPF3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CD81 | STX3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZACN | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| KCNE3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC17A2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| OR10H2 | ABCD4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC43A1 | PLPP1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNK3 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SLC43A1 | BACH2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (53): SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Proximity Label-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Two-hybrid), SLC43A1 (Proximity Label-MS), SLC43A1 (Proximity Label-MS), SLC43A1 (Proximity Label-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS), SLC43A1 (Affinity Capture-MS)
ESM2 similar proteins: A0A125YQS6, A0A125YY03, A0A7J6K338, A1Z7R6, A4IHK6, A5K9W3, G4SDH4, J9UD11, O43306, O60266, O75387, O76269, O76343, P14773, P30804, P48768, Q01341, Q03343, Q04400, Q0C8L9, Q0VCM6, Q41706, Q4D3E8, Q4X251, Q57VW6, Q5B0V6, Q5BKX6, Q5RF58, Q5ZMT9, Q6C520, Q6CGU8, Q7Z8U2, Q8BIV7, Q8BSM7, Q8CGA3, Q8K4S3, Q8K596, Q8N370, Q93380, Q93Z75
Diamond homologs: A4IHK6, O75387, Q0VCM6, Q5RF58, Q8BSM7, Q8CGA3, Q8N370, Q8NBI5, Q1JPD8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
107 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 79 |
| Likely benign | 7 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2833 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:57487107:T:A | donor_gain | 1.0000 |
| 11:57488915:CA:C | donor_gain | 1.0000 |
| 11:57491358:CCCAA:C | acceptor_gain | 1.0000 |
| 11:57491359:CCAAC:C | acceptor_gain | 1.0000 |
| 11:57491712:TCA:T | donor_loss | 1.0000 |
| 11:57491713:CAC:C | donor_loss | 1.0000 |
| 11:57491714:A:AC | donor_gain | 1.0000 |
| 11:57491714:ACCAT:A | donor_loss | 1.0000 |
| 11:57491715:C:A | donor_loss | 1.0000 |
| 11:57491715:C:CC | donor_gain | 1.0000 |
| 11:57491715:CCATG:C | donor_gain | 1.0000 |
| 11:57491859:GACC:G | acceptor_gain | 1.0000 |
| 11:57491861:CC:C | acceptor_gain | 1.0000 |
| 11:57491862:CC:C | acceptor_gain | 1.0000 |
| 11:57491863:C:CC | acceptor_gain | 1.0000 |
| 11:57491863:C:T | acceptor_gain | 1.0000 |
| 11:57493987:ACTC:A | donor_loss | 1.0000 |
| 11:57493988:CTCAC:C | donor_loss | 1.0000 |
| 11:57493989:T:TC | donor_loss | 1.0000 |
| 11:57493990:C:CG | donor_loss | 1.0000 |
| 11:57493991:A:AC | donor_gain | 1.0000 |
| 11:57493991:AC:A | donor_loss | 1.0000 |
| 11:57493991:ACT:A | donor_gain | 1.0000 |
| 11:57493991:ACTCT:A | donor_gain | 1.0000 |
| 11:57493992:C:CA | donor_gain | 1.0000 |
| 11:57493992:CT:C | donor_gain | 1.0000 |
| 11:57493992:CTC:C | donor_gain | 1.0000 |
| 11:57493992:CTCT:C | donor_gain | 1.0000 |
| 11:57493992:CTCTC:C | donor_gain | 1.0000 |
| 11:57494025:T:TA | donor_gain | 1.0000 |
AlphaMissense
3634 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:57487167:A:C | S487R | 0.996 |
| 11:57487167:A:T | S487R | 0.996 |
| 11:57487169:T:G | S487R | 0.996 |
| 11:57491813:G:C | S307R | 0.995 |
| 11:57491813:G:T | S307R | 0.995 |
| 11:57491815:T:G | S307R | 0.995 |
| 11:57497793:C:T | G173D | 0.995 |
| 11:57497794:C:G | G173R | 0.994 |
| 11:57501043:A:C | S111R | 0.993 |
| 11:57501043:A:T | S111R | 0.993 |
| 11:57501153:T:G | S111R | 0.993 |
| 11:57501220:G:C | S88R | 0.992 |
| 11:57501220:G:T | S88R | 0.992 |
| 11:57501222:T:G | S88R | 0.992 |
| 11:57514015:A:G | W33R | 0.992 |
| 11:57514015:A:T | W33R | 0.992 |
| 11:57501236:C:T | G83D | 0.990 |
| 11:57501244:G:C | F80L | 0.990 |
| 11:57501244:G:T | F80L | 0.990 |
| 11:57501246:A:G | F80L | 0.990 |
| 11:57487215:G:C | F471L | 0.989 |
| 11:57487215:G:T | F471L | 0.989 |
| 11:57487217:A:G | F471L | 0.989 |
| 11:57488958:C:G | R456P | 0.989 |
| 11:57491321:A:G | C366R | 0.989 |
| 11:57514013:C:A | W33C | 0.989 |
| 11:57514013:C:G | W33C | 0.989 |
| 11:57514018:C:G | G32R | 0.989 |
| 11:57487192:A:G | L479P | 0.988 |
| 11:57491296:C:T | G374D | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000013983 (11:57496429 T>A), RS1000068436 (11:57499842 C>A), RS1000200734 (11:57489920 G>A), RS1000332266 (11:57497233 G>A), RS1000343231 (11:57504057 C>T), RS1000473018 (11:57510308 A>C), RS1000493497 (11:57490263 C>T), RS1000534054 (11:57492060 C>T), RS1000672534 (11:57498443 C>A,T), RS1000780207 (11:57507681 C>G), RS1000911718 (11:57515910 T>G), RS1000969891 (11:57516543 T>A,C), RS1001025330 (11:57494897 G>C), RS1001030607 (11:57485344 A>T), RS1001046251 (11:57485035 C>G,T)
Disease associations
OMIM: gene MIM:603733 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004748_22 | Lung cancer | 5.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4148 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC43 family of large neutral amino acid transporters
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression | 4 |
| bisphenol A | increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Cyclosporine | affects expression, increases expression | 2 |
| Aflatoxin B1 | decreases expression, affects expression | 2 |
| allyl 2,4,6-tribromophenyl ether | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| tri-o-cresyl phosphate | increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| motexafin gadolinium | increases expression, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| belinostat | increases expression | 1 |
| abrine | decreases expression | 1 |
| quinocetone | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 2,3-dibromopropyl-2,4,6-tribromophenyl ether | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3854167 | Binding | Inhibition of LAT3 in human LNCAP cells assessed as inhibition of [3H]L-leucine uptake at 10 uM after 15 mins by liquid scintillation counting method relative to control | Bioactive Dihydro-β-agarofuran Sesquiterpenoids from the Australian Rainforest Plant Maytenus bilocularis. — J Nat Prod |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4TR | HuH7-SLC43A1-KO-c1 | Cancer cell line | Male |
| CVCL_D4TS | HuH7-SLC43A1-KO-c12 | Cancer cell line | Male |
| CVCL_TN70 | HAP1 SLC43A1 (-) | Cancer cell line | Male |
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.