SLC43A3
gene geneOn this page
Also known as SEEEG-1Eeg1DKFZp762A227FOAP-13PRO1659
Summary
SLC43A3 (solute carrier family 43 member 3, HGNC:17466) is a protein-coding gene on chromosome 11q12.1, encoding Equilibrative nucleobase transporter 1 (Q8NBI5). Sodium-independent purine-selective nucleobase transporter which mediates the equilibrative transport of extracellular purine nucleobases such as adenine, guanine and hypoxanthine.
Enables adenine transmembrane transporter activity; guanine transmembrane transporter activity; and xenobiotic transmembrane transporter activity. Involved in hypoxanthine transport. Located in basolateral plasma membrane.
Source: NCBI Gene 29015 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 74 total
- Druggable target: yes
- MANE Select transcript:
NM_199329
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17466 |
| Approved symbol | SLC43A3 |
| Name | solute carrier family 43 member 3 |
| Location | 11q12.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659 |
| Ensembl gene | ENSG00000134802 |
| Ensembl biotype | protein_coding |
| OMIM | 618034 |
| Entrez | 29015 |
Gene structure
Transcript identifiers
Ensembl transcripts: 62 — 57 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 TEC
ENST00000352187, ENST00000395123, ENST00000395124, ENST00000524863, ENST00000525205, ENST00000525474, ENST00000526125, ENST00000526621, ENST00000528098, ENST00000528187, ENST00000529112, ENST00000529113, ENST00000529494, ENST00000529554, ENST00000529748, ENST00000529896, ENST00000530005, ENST00000530232, ENST00000530316, ENST00000532278, ENST00000532795, ENST00000533051, ENST00000533235, ENST00000533245, ENST00000533524, ENST00000625097, ENST00000865320, ENST00000865321, ENST00000865322, ENST00000865323, ENST00000865324, ENST00000865325, ENST00000865326, ENST00000865327, ENST00000865328, ENST00000865329, ENST00000865330, ENST00000865331, ENST00000865332, ENST00000865333, ENST00000865334, ENST00000865335, ENST00000865336, ENST00000865337, ENST00000865338, ENST00000865339, ENST00000865340, ENST00000865341, ENST00000865342, ENST00000865343, ENST00000865344, ENST00000865345, ENST00000865346, ENST00000920080, ENST00000920081, ENST00000955576, ENST00000955577, ENST00000955578, ENST00000955579, ENST00000955580, ENST00000955581, ENST00000955582
RefSeq mRNA: 5 — MANE Select: NM_199329
NM_001278201, NM_001278206, NM_014096, NM_017611, NM_199329
CCDS: CCDS60784, CCDS7956
Canonical transcript exons
ENST00000395124 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001027262 | 57409935 | 57410121 |
| ENSE00001358103 | 57426588 | 57426652 |
| ENSE00001520661 | 57427062 | 57427121 |
| ENSE00002159268 | 57406954 | 57407896 |
| ENSE00003471984 | 57425541 | 57425670 |
| ENSE00003515103 | 57414933 | 57415106 |
| ENSE00003515737 | 57414615 | 57414731 |
| ENSE00003523085 | 57420972 | 57421064 |
| ENSE00003531659 | 57409175 | 57409298 |
| ENSE00003561334 | 57425989 | 57426352 |
| ENSE00003587529 | 57421297 | 57421373 |
| ENSE00003611380 | 57416573 | 57416670 |
| ENSE00003651684 | 57417748 | 57417887 |
| ENSE00003783955 | 57423982 | 57424028 |
Expression profiles
Bgee: expression breadth ubiquitous, 242 present calls, max score 98.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.2904 / max 354.7113, expressed in 1566 samples.
FANTOM5 promoters (20 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119776 | 29.3600 | 1560 |
| 119773 | 0.9403 | 192 |
| 119777 | 0.7923 | 501 |
| 119779 | 0.7504 | 292 |
| 119774 | 0.6208 | 321 |
| 119762 | 0.3384 | 163 |
| 119775 | 0.2006 | 104 |
| 206287 | 0.1919 | 104 |
| 119780 | 0.1808 | 72 |
| 119767 | 0.1758 | 75 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.08 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.89 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 96.83 | gold quality |
| thyroid gland | UBERON:0002046 | 96.33 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.15 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.03 | gold quality |
| liver | UBERON:0002107 | 95.89 | gold quality |
| omental fat pad | UBERON:0010414 | 95.22 | gold quality |
| peritoneum | UBERON:0002358 | 95.15 | gold quality |
| monocyte | CL:0000576 | 94.96 | gold quality |
| mononuclear cell | CL:0000842 | 94.90 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.72 | gold quality |
| leukocyte | CL:0000738 | 94.68 | gold quality |
| upper lobe of lung | UBERON:0008948 | 94.51 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 94.32 | gold quality |
| ectocervix | UBERON:0012249 | 94.09 | gold quality |
| right lung | UBERON:0002167 | 94.06 | gold quality |
| tibial nerve | UBERON:0001323 | 93.96 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 93.72 | gold quality |
| right coronary artery | UBERON:0001625 | 93.70 | gold quality |
| apex of heart | UBERON:0002098 | 93.62 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.39 | gold quality |
| oocyte | CL:0000023 | 93.14 | gold quality |
| ascending aorta | UBERON:0001496 | 93.05 | gold quality |
| thoracic aorta | UBERON:0001515 | 93.01 | gold quality |
| left coronary artery | UBERON:0001626 | 92.97 | gold quality |
| minor salivary gland | UBERON:0001830 | 92.95 | gold quality |
| left uterine tube | UBERON:0001303 | 92.94 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 92.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 92.78 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-114 | yes | 58.50 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
33 targeting SLC43A3, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-3122 | 99.50 | 66.33 | 821 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-3182 | 99.40 | 68.15 | 2454 |
| HSA-MIR-19A-5P | 99.36 | 66.93 | 1675 |
| HSA-MIR-19B-1-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-19B-2-5P | 99.36 | 67.07 | 1669 |
| HSA-MIR-4711-3P | 98.97 | 66.87 | 1020 |
| HSA-MIR-4656 | 98.79 | 66.22 | 1306 |
| HSA-MIR-147A | 98.33 | 66.40 | 795 |
| HSA-MIR-5088-3P | 98.29 | 66.63 | 1310 |
| HSA-MIR-6773-3P | 98.17 | 65.51 | 1213 |
| HSA-MIR-1302 | 97.92 | 67.27 | 844 |
| HSA-MIR-188-5P | 97.89 | 67.01 | 756 |
| HSA-MIR-6818-5P | 97.50 | 67.10 | 1167 |
| HSA-MIR-6866-3P | 97.38 | 66.94 | 748 |
| HSA-MIR-4298 | 97.26 | 66.59 | 765 |
| HSA-MIR-10398-5P | 97.12 | 64.94 | 1051 |
| HSA-MIR-3622A-3P | 97.06 | 66.43 | 1000 |
| HSA-MIR-6729-3P | 96.91 | 66.79 | 703 |
| HSA-MIR-3622B-3P | 96.82 | 66.36 | 988 |
| HSA-MIR-8081 | 96.42 | 67.75 | 738 |
| HSA-MIR-1251-5P | 95.78 | 64.10 | 374 |
| HSA-MIR-6851-3P | 95.73 | 65.11 | 688 |
Literature-anchored findings (GeneRIF, showing 6)
- SLC43A3 is an equilibrative nucleobase transporter involved in purine salvage in mammals. (PMID:26455426)
- transcriptome sequencing of patient-derived angiosarcoma cells, identified a novel fusion gene NUP160-SLC43A3 found to be expressed in 9 of 25 human angiosarcoma specimens that were examined. (PMID:26527604)
- Slc43a3 is a regulator of free fatty acid flux. (PMID:32217606)
- Functional Analysis of the Role of Equilibrative Nucleobase Transporter 1 (ENBT1/SLC43A3) in Adenine Transport in HepG2 Cells. (PMID:32339528)
- Impact of SLC43A3/ENBT1 Expression and Function on 6-Mercaptopurine Transport and Cytotoxicity in Human Acute Lymphoblastic Leukemia Cells. (PMID:35798387)
- Functional comparison of human and murine equilibrative nucleobase transporter 1. (PMID:39361655)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc43a3b | ENSDARG00000057949 |
| danio_rerio | slc43a3a | ENSDARG00000059682 |
| mus_musculus | Slc43a3 | ENSMUSG00000027074 |
| rattus_norvegicus | Slc43a3 | ENSRNOG00000061768 |
Protein
Protein identifiers
Equilibrative nucleobase transporter 1 — Q8NBI5 (reviewed: Q8NBI5)
Alternative names: Protein FOAP-13, Solute carrier family 43 member 3
All UniProt accessions (17): E9PJL1, E9PJL3, E9PJT6, Q8NBI5, E9PKW3, E9PL23, E9PLF2, E9PLP1, E9PLW1, E9PMZ1, E9PNM4, E9PPE4, E9PR64, E9PR94, E9PS74, E9PSH9, H0YD64
UniProt curated annotations — full annotation on UniProt →
Function. Sodium-independent purine-selective nucleobase transporter which mediates the equilibrative transport of extracellular purine nucleobases such as adenine, guanine and hypoxanthine. May regulate fatty acid (FA) transport in adipocytes, acting as a positive regulator of FA efflux and as a negative regulator of FA uptake. Sodium-independent purine-selective nucleobase transporter which mediates the equilibrative transport of extracellular purine nucleobase adenine. Mediates the influx and efflux of the purine nucleobase analog drug 6-mercaptopurine across the membrane. Sodium-independent purine-selective nucleobase transporter which mediates the equilibrative transport of extracellular purine nucleobase adenine. Mediates the influx and efflux of the purine nucleobase analog drug 6-mercaptopurine across the membrane.
Subcellular location. Basolateral cell membrane.
Tissue specificity. Widely expressed with highest levels in the liver and lung, followed by the pancreas. Highly expressed in macrophages (Ref.1).
Activity regulation. Adenine transport is strongly inhibited by decynium-22. 6-mercaptopurine-transport is inhibited by 6-thioguanine, 6-methylmercaptopurine and decynium-22. 6-mercaptopurine-transport is inhibited by 6-thioguanine, 6-methylmercaptopurine and decynium-22.
Similarity. Belongs to the SLC43A transporter (TC 2.A.1.44) family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NBI5-1 | 1 | yes |
| Q8NBI5-2 | 2 |
RefSeq proteins (5): NP_001265130, NP_001265135, NP_054815, NP_060081, NP_955361* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027197 | SLC43A3 | Family |
| IPR036259 | MFS_trans_sf | Homologous_superfamily |
Catalyzed reactions (Rhea), 3 shown:
- hypoxanthine(out) = hypoxanthine(in) (RHEA:71515)
- adenine(out) = adenine(in) (RHEA:71523)
- guanine(out) = guanine(in) (RHEA:71531)
UniProt features (22 total): transmembrane region 12, glycosylation site 3, modified residue 2, sequence conflict 2, chain 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NBI5-F1 | 83.24 | 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 (2): 253, 258
Glycosylation sites (3): 56, 220, 229
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 283 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GCANCTGNY_MYOD_Q6, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, ADDYA_ERYTHROID_DIFFERENTIATION_BY_HEMIN, CAGCTG_AP4_Q5, GOBP_ORGANIC_ACID_TRANSPORT, MODULE_331, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_2_UP, CAIRO_HEPATOBLASTOMA_DN, GOBP_ORGANIC_ANION_TRANSPORT, BOYLAN_MULTIPLE_MYELOMA_C_CLUSTER_UP, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, SENESE_HDAC1_TARGETS_UP, VANTVEER_BREAST_CANCER_ESR1_DN
GO Biological Process (6): hypoxanthine transport (GO:0035344), lipid transport (GO:0006869), adenine transport (GO:0015853), fatty acid transport (GO:0015908), xenobiotic transport (GO:0042908), guanine transmembrane transport (GO:1903716)
GO Molecular Function (5): adenine transmembrane transporter activity (GO:0015207), guanine transmembrane transporter activity (GO:0015208), fatty acid transmembrane transporter activity (GO:0015245), xenobiotic transmembrane transporter activity (GO:0042910), protein binding (GO:0005515)
GO Cellular Component (3): basolateral plasma membrane (GO:0016323), plasma membrane (GO:0005886), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine nucleobase transport | 2 |
| transport | 2 |
| purine nucleobase transmembrane transporter activity | 2 |
| lipid localization | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| guanine transport | 1 |
| purine nucleobase transmembrane transport | 1 |
| adenine transport | 1 |
| guanine transmembrane transport | 1 |
| monocarboxylic acid transmembrane transporter activity | 1 |
| fatty acid transport | 1 |
| lipid transmembrane transporter activity | 1 |
| transmembrane transporter activity | 1 |
| xenobiotic transport | 1 |
| binding | 1 |
| basal plasma membrane | 1 |
| plasma membrane region | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
906 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC43A3 | TXNL1 | O43396 | 501 |
| SLC43A3 | SLC29A1 | Q99808 | 447 |
| SLC43A3 | M0QY95 | M0QY95 | 434 |
| SLC43A3 | NUP160 | Q12769 | 423 |
| SLC43A3 | FBLIM1 | Q8WUP2 | 417 |
| SLC43A3 | UTP18 | Q9Y5J1 | 413 |
| SLC43A3 | FAM234A | Q9H0X4 | 410 |
| SLC43A3 | TIMM10 | P62072 | 406 |
| SLC43A3 | SLC29A2 | Q14542 | 404 |
| SLC43A3 | SLC6A15 | Q9H2J7 | 377 |
| SLC43A3 | SLC35F5 | Q8WV83 | 370 |
| SLC43A3 | SLC38A7 | Q9NVC3 | 370 |
| SLC43A3 | SLC7A6 | Q92536 | 344 |
| SLC43A3 | SLC35B3 | Q9H1N7 | 332 |
| SLC43A3 | SLC46A2 | Q9BY10 | 328 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IFT70A | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| IFT70B | IFT56 | psi-mi:“MI:0914”(association) | 0.790 |
| SLC43A3 | VCP | psi-mi:“MI:0915”(physical association) | 0.560 |
| WNK2 | SLC43A3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LAMC3 | SLC43A3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| Mad2l1bp | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| Kcnk1 | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| KRBOX4 | ASXL2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ercc6l | RPL17 | psi-mi:“MI:0914”(association) | 0.350 |
| Ndel1 | VEZF1 | psi-mi:“MI:0914”(association) | 0.350 |
| Atp2a2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| STRN | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
| SH2D3C | TMEM14DP | psi-mi:“MI:0914”(association) | 0.350 |
| NPC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC43A3 | TTR | psi-mi:“MI:0914”(association) | 0.350 |
| ARL6IP6 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN15 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP5PF | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| SPPL2B | HAS3 | psi-mi:“MI:0914”(association) | 0.350 |
| SYNGR1 | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| HTR1B | SCAMP2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC43A3 | SURF4 | psi-mi:“MI:0914”(association) | 0.350 |
| SPPL2B | POC1B-GALNT4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC43A3 | PLPP3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC43A3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (95): SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-MS), SLC43A3 (Affinity Capture-RNA), SLC43A3 (Two-hybrid)
ESM2 similar proteins: A1L272, A6QL92, B8AF63, E2RFJ3, E7EXX2, O35458, O35633, O54902, O80605, P49281, P49282, P51027, P57057, P58355, Q0VA82, Q28CV2, Q569T7, Q5F383, Q5R6J3, Q5RD30, Q5U3U7, Q62052, Q640L2, Q6DEJ6, Q6DIV6, Q6GPQ3, Q6GQE1, Q6P499, Q6PF45, Q6YK44, Q7RTT9, Q8BGN5, Q8BH31, Q8CBH5, Q8MIQ9, Q8NA29, Q8NBI5, Q8NHS3, Q8R070, Q8R139
Diamond homologs: A2AVZ9, Q1JPD8, Q8NBI5, A4IHK6, O75387, Q0VCM6, Q5RF58, Q8BSM7, Q8CGA3, Q8N370, Q04991
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
74 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2609 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:57409166:AGTAC:A | donor_loss | 1.0000 |
| 11:57409167:GTAC:G | donor_loss | 1.0000 |
| 11:57409168:TAC:T | donor_loss | 1.0000 |
| 11:57409169:ACT:A | donor_loss | 1.0000 |
| 11:57409170:CTCAC:C | donor_loss | 1.0000 |
| 11:57409171:T:TA | donor_loss | 1.0000 |
| 11:57409172:C:CC | donor_loss | 1.0000 |
| 11:57409173:A:AC | donor_gain | 1.0000 |
| 11:57409173:AC:A | donor_loss | 1.0000 |
| 11:57409174:C:A | donor_loss | 1.0000 |
| 11:57409174:C:CA | donor_gain | 1.0000 |
| 11:57409174:C:CC | donor_gain | 1.0000 |
| 11:57409174:CGTAA:C | donor_gain | 1.0000 |
| 11:57409294:GGAAA:G | acceptor_gain | 1.0000 |
| 11:57409295:GAAA:G | acceptor_gain | 1.0000 |
| 11:57409296:AAA:A | acceptor_gain | 1.0000 |
| 11:57409297:AA:A | acceptor_gain | 1.0000 |
| 11:57409299:C:CC | acceptor_gain | 1.0000 |
| 11:57409300:T:C | acceptor_loss | 1.0000 |
| 11:57409928:CACTT:C | donor_loss | 1.0000 |
| 11:57409929:ACTTA:A | donor_loss | 1.0000 |
| 11:57409930:CTT:C | donor_loss | 1.0000 |
| 11:57409931:TTA:T | donor_loss | 1.0000 |
| 11:57409932:TA:T | donor_loss | 1.0000 |
| 11:57409933:A:AC | donor_gain | 1.0000 |
| 11:57409934:C:CC | donor_gain | 1.0000 |
| 11:57409934:CG:C | donor_gain | 1.0000 |
| 11:57409934:CGCAA:C | donor_gain | 1.0000 |
| 11:57414612:CAC:C | donor_loss | 1.0000 |
| 11:57414613:A:AC | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000130726 (11:57412910 T>C), RS1000196079 (11:57428092 A>C,G), RS1000403715 (11:57422777 G>C), RS1000732768 (11:57411382 C>T), RS1000848484 (11:57429448 G>A), RS1001171005 (11:57422419 A>G), RS1001292577 (11:57412106 C>A), RS1001409434 (11:57428934 C>T), RS1001570799 (11:57408163 C>T), RS1001685324 (11:57408399 T>C), RS1001724806 (11:57427717 C>T), RS1001734696 (11:57428637 C>T), RS1002036860 (11:57410210 G>A), RS1002090961 (11:57410561 T>G), RS1002423467 (11:57416706 A>C)
Disease associations
OMIM: gene MIM:618034 | 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 |
|---|---|---|
| GCST001438_11 | Crohn’s disease | 8.000000e-09 |
| GCST004616_86 | Platelet distribution width | 1.000000e-11 |
| GCST005024_10 | Pursuit maintenance gain | 1.000000e-06 |
| GCST005024_93 | Pursuit maintenance gain | 3.000000e-06 |
| GCST90002381_299 | Eosinophil count | 1.000000e-15 |
| GCST90002382_383 | Eosinophil percentage of white cells | 2.000000e-11 |
| GCST90002401_181 | Platelet distribution width | 8.000000e-26 |
| GCST90002402_347 | Platelet count | 1.000000e-11 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007984 | platelet component distribution width |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067117 (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
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression, affects expression, affects splicing | 4 |
| Valproic Acid | affects expression, increases expression | 4 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, affects expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance | 3 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance, increases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| nickel sulfate | decreases expression, increases expression | 2 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 2 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 2 |
| Air Pollutants | affects expression, affects cotreatment, increases abundance, increases oxidation | 2 |
| Nickel | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | increases methylation | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 3-iodothyronamine | affects uptake | 1 |
| abrine | increases expression | 1 |
| incobotulinumtoxinA | increases 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 |
|---|---|---|---|
| CHEMBL5652470 | Binding | Binding affinity to human SLC43A3 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
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2G9 | Abcam HeLa SLC43A3 KO | Cancer cell line | Female |
| CVCL_D4FA | 1321N1-SLC43A3-KO-c3 | Cancer cell line | Male |
| CVCL_D4FB | 1321N1-SLC43A3-KO-c6 | Cancer cell line | Male |
| CVCL_TN73 | HAP1 SLC43A3 (-) 1 | Cancer cell line | Male |
| CVCL_TN74 | HAP1 SLC43A3 (-) 2 | 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.