SLC7A10
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Also known as asc-1
Summary
SLC7A10 (solute carrier family 7 member 10, HGNC:11058) is a protein-coding gene on chromosome 19q13.11, encoding Asc-type amino acid transporter 1 (Q9NS82). Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane.
SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).
Source: NCBI Gene 56301 — RefSeq curated summary.
At a glance
- GWAS associations: 23
- Clinical variants (ClinVar): 114 total
- MANE Select transcript:
NM_019849
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11058 |
| Approved symbol | SLC7A10 |
| Name | solute carrier family 7 member 10 |
| Location | 19q13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | asc-1 |
| Ensembl gene | ENSG00000130876 |
| Ensembl biotype | protein_coding |
| OMIM | 607959 |
| Entrez | 56301 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 nonsense_mediated_decay, 2 protein_coding, 1 retained_intron
ENST00000253188, ENST00000587064, ENST00000590036, ENST00000590490, ENST00000592596, ENST00000936958
RefSeq mRNA: 1 — MANE Select: NM_019849
NM_019849
CCDS: CCDS12431
Canonical transcript exons
ENST00000253188 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000695910 | 33215769 | 33215973 |
| ENSE00000695925 | 33211225 | 33211328 |
| ENSE00000695927 | 33210802 | 33210898 |
| ENSE00001301084 | 33225553 | 33225850 |
| ENSE00001328575 | 33208664 | 33209021 |
| ENSE00001793096 | 33211414 | 33211537 |
| ENSE00003505401 | 33212514 | 33212639 |
| ENSE00003550499 | 33210467 | 33210616 |
| ENSE00003555578 | 33209308 | 33209485 |
| ENSE00003614528 | 33212851 | 33213002 |
| ENSE00003692026 | 33212292 | 33212445 |
Expression profiles
Bgee: expression breadth ubiquitous, 138 present calls, max score 88.83.
FANTOM5 (CAGE): breadth broad, TPM avg 1.2651 / max 163.8322, expressed in 252 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 180408 | 1.1069 | 239 |
| 180409 | 0.0878 | 36 |
| 180407 | 0.0704 | 33 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| omental fat pad | UBERON:0010414 | 88.83 | gold quality |
| peritoneum | UBERON:0002358 | 88.76 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 88.39 | gold quality |
| caudate nucleus | UBERON:0001873 | 85.92 | gold quality |
| nucleus accumbens | UBERON:0001882 | 84.78 | gold quality |
| adipose tissue | UBERON:0001013 | 83.97 | gold quality |
| putamen | UBERON:0001874 | 83.79 | gold quality |
| amygdala | UBERON:0001876 | 83.08 | gold quality |
| connective tissue | UBERON:0002384 | 81.81 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 81.28 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.40 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 79.90 | gold quality |
| cingulate cortex | UBERON:0003027 | 79.77 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 78.99 | gold quality |
| hypothalamus | UBERON:0001898 | 77.08 | gold quality |
| substantia nigra | UBERON:0002038 | 76.18 | gold quality |
| telencephalon | UBERON:0001893 | 76.16 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 75.94 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.48 | gold quality |
| midbrain | UBERON:0001891 | 75.18 | gold quality |
| temporal lobe | UBERON:0001871 | 75.03 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 75.03 | gold quality |
| neocortex | UBERON:0001950 | 74.74 | gold quality |
| prefrontal cortex | UBERON:0000451 | 74.61 | gold quality |
| frontal cortex | UBERON:0001870 | 74.61 | gold quality |
| ganglionic eminence | UBERON:0004023 | 74.46 | gold quality |
| cerebral cortex | UBERON:0000956 | 73.25 | gold quality |
| Ammon’s horn | UBERON:0001954 | 72.76 | gold quality |
| forebrain | UBERON:0001890 | 72.65 | gold quality |
| brain | UBERON:0000955 | 71.97 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
25 targeting SLC7A10, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-1245B-5P | 98.88 | 66.55 | 576 |
| HSA-MIR-3142 | 98.88 | 66.09 | 529 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-3158-3P | 98.45 | 64.25 | 560 |
| HSA-MIR-6779-3P | 97.51 | 65.82 | 789 |
| HSA-MIR-1306-5P | 97.11 | 64.04 | 755 |
| HSA-MIR-3194-5P | 96.80 | 64.90 | 1027 |
| HSA-MIR-1295B-3P | 96.68 | 66.11 | 276 |
| HSA-MIR-2909 | 96.36 | 67.30 | 562 |
Literature-anchored findings (GeneRIF, showing 10)
- The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids (PMID:15458438)
- In conclusion, SLC7A10 had no apparent degree of association with schizophrenia as a candidate susceptibility gene in the disease per se. (PMID:21888942)
- The amino acid transporter ASC-1 is a white adipocyte-specific cell surface protein. (PMID:25080478)
- ASC1 is a target for ufmylation and that UFBP1 is an essential component for ASC1 ufmylation. (PMID:25219498)
- results identify ASC-1 as a novel cell cycle regulator with a key role in cell proliferation. (PMID:31794073)
- Asc-1 Transporter (SLC7A10): Homology Models And Molecular Dynamics Insights Into The First Steps Of The Transport Mechanism. (PMID:32111919)
- NLRC4, ASC and Caspase-1 Are Inflammasome Components that Are Mediated by P2Y2R Activation in Breast Cancer Cells. (PMID:32397236)
- ASC-1 transporter-dependent amino acid uptake is required for the efficient thermogenic response of human adipocytes to adrenergic stimulation. (PMID:34197627)
- Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism. (PMID:36916878)
- Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. (PMID:37903619)
Cross-species orthologs
17 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc7a10a | ENSDARG00000008100 |
| danio_rerio | slc7a10b | ENSDARG00000051730 |
| mus_musculus | Slc7a10 | ENSMUSG00000030495 |
| rattus_norvegicus | Slc7a10 | ENSRNOG00000010938 |
| drosophila_melanogaster | mnd | FBGN0002778 |
| drosophila_melanogaster | CG7255 | FBGN0036493 |
| drosophila_melanogaster | CG5535 | FBGN0036764 |
| drosophila_melanogaster | CG13248 | FBGN0036984 |
| drosophila_melanogaster | slif | FBGN0037203 |
| drosophila_melanogaster | CG1607 | FBGN0039844 |
| caenorhabditis_elegans | WBGENE00000002 | |
| caenorhabditis_elegans | WBGENE00000003 | |
| caenorhabditis_elegans | WBGENE00000005 | |
| caenorhabditis_elegans | aat-9 | WBGENE00000010 |
| caenorhabditis_elegans | WBGENE00015197 | |
| caenorhabditis_elegans | WBGENE00016806 | |
| caenorhabditis_elegans | WBGENE00017747 |
Paralogs (12): SLC7A2 (ENSG00000003989), SLC7A14 (ENSG00000013293), SLC7A9 (ENSG00000021488), SLC7A8 (ENSG00000092068), SLC7A4 (ENSG00000099960), SLC7A6 (ENSG00000103064), SLC7A5 (ENSG00000103257), SLC7A1 (ENSG00000139514), SLC7A11 (ENSG00000151012), SLC7A7 (ENSG00000155465), SLC7A13 (ENSG00000164893), SLC7A3 (ENSG00000165349)
Protein
Protein identifiers
Asc-type amino acid transporter 1 — Q9NS82 (reviewed: Q9NS82)
Alternative names: Solute carrier family 7 member 10
All UniProt accessions (3): Q9NS82, K7EK24, K7ENB6
UniProt curated annotations — full annotation on UniProt →
Function. Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane. Preferentially mediates exchange transport, but can also operate via facilitated diffusion. Acts as a major transporter for glycine, L- and D-serine in the central nervous system. At the spinal cord and brainstem regulates glycine metabolism and glycinergic inhibitory neurotransmission by providing for glycine de novo synthesis from L-serine and glycine recycling from astrocytes to glycinergic motor neurons. At Schaffer collateral-CA1 synapses mediates D-serine and glycine release that modulates post-synaptic activation of NMDA receptors and excitatory glutamatergic transmission. May regulate D-serine release from mesenchymal progenitors located in developing subcutaneous adipose tissue, favoring white adipocyte over thermogenic beige adipocyte lineage commitment.
Subunit / interactions. Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
Subcellular location. Cell membrane.
Tissue specificity. Expressed in brain, heart, kidney, liver, lung, pancreas, placenta, and skeletal muscle.
Similarity. Belongs to the amino acid-polyamine-organocation (APC) superfamily.
RefSeq proteins (1): NP_062823* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002293 | AA/rel_permease1 | Family |
| IPR050598 | AminoAcid_Transporter | Family |
Pfam: PF13520
Catalyzed reactions (Rhea), 12 shown:
- D-serine(in) = D-serine(out) (RHEA:29455)
- L-alanine(in) + glycine(out) = L-alanine(out) + glycine(in) (RHEA:74019)
- L-serine(out) + L-alanine(in) = L-serine(in) + L-alanine(out) (RHEA:74023)
- L-threonine(out) + L-alanine(in) = L-threonine(in) + L-alanine(out) (RHEA:74027)
- L-cysteine(out) + L-alanine(in) = L-cysteine(in) + L-alanine(out) (RHEA:74031)
- D-serine(out) + L-alanine(in) = D-serine(in) + L-alanine(out) (RHEA:74035)
- D-alanine(out) + L-alanine(in) = D-alanine(in) + L-alanine(out) (RHEA:74039)
- L-methionine(out) + L-alanine(in) = L-methionine(in) + L-alanine(out) (RHEA:74043)
- L-valine(out) + L-alanine(in) = L-valine(in) + L-alanine(out) (RHEA:74047)
- D-threonine(out) + L-alanine(in) = D-threonine(in) + L-alanine(out) (RHEA:74051)
- D-cysteine(out) + L-alanine(in) = D-cysteine(in) + L-alanine(out) (RHEA:74055)
- beta-alanine(out) + L-alanine(in) = beta-alanine(in) + L-alanine(out) (RHEA:74059)
UniProt features (46 total): helix 23, transmembrane region 9, turn 4, strand 4, region of interest 2, sequence variant 2, chain 1, compositionally biased region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8WNS | ELECTRON MICROSCOPY | 3.42 |
| 8WNT | ELECTRON MICROSCOPY | 3.42 |
| 8WNY | ELECTRON MICROSCOPY | 3.5 |
| 8QEY | ELECTRON MICROSCOPY | 4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS82-F1 | 83.79 | 0.50 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-210991 | Basigin interactions |
| R-HSA-352230 | Amino acid transport across the plasma membrane |
| R-HSA-109582 | Hemostasis |
| R-HSA-202733 | Cell surface interactions at the vascular wall |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425393 | |
| R-HSA-425407 | SLC-mediated transmembrane transport |
MSigDB gene sets: 128 (showing top):
GOBP_REGULATION_OF_FAT_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_FAT_CELL_DIFFERENTIATION, LFA1_Q6, GOBP_REGULATION_OF_BROWN_FAT_CELL_DIFFERENTIATION, AP2_Q3, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_ORGANIC_ACID_TRANSPORT, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, GOBP_AMINO_ACID_TRANSPORT, GOBP_BROWN_FAT_CELL_DIFFERENTIATION, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_ORGANIC_ANION_TRANSPORT, GGCKCATGS_UNKNOWN
GO Biological Process (10): amino acid transport (GO:0006865), neutral amino acid transport (GO:0015804), glycine transport (GO:0015816), D-alanine transmembrane transport (GO:0042941), D-serine transmembrane transport (GO:0042942), positive regulation of synaptic transmission, glycinergic (GO:0060094), negative regulation of brown fat cell differentiation (GO:1903444), L-serine transport (GO:0015825), transmembrane transport (GO:0055085), L-alpha-amino acid transmembrane transport (GO:1902475)
GO Molecular Function (6): neutral L-amino acid transmembrane transporter activity (GO:0015175), L-amino acid transmembrane transporter activity (GO:0015179), L-serine transmembrane transporter activity (GO:0015194), protein binding (GO:0005515), obsolete organic cation transmembrane transporter activity (GO:0015101), transmembrane transporter activity (GO:0022857)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Cell surface interactions at the vascular wall | 1 |
| SLC-mediated transport of amino acids | 1 |
| Hemostasis | 1 |
| Transport of small molecules | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| amino acid transmembrane transport | 3 |
| carboxylic acid transmembrane transport | 3 |
| transport | 2 |
| neutral amino acid transport | 2 |
| D-amino acid transport | 2 |
| serine transport | 2 |
| L-amino acid transport | 2 |
| amino acid transmembrane transporter activity | 2 |
| amino acid transport | 1 |
| carboxylic acid transport | 1 |
| nitrogen compound transport | 1 |
| alanine transport | 1 |
| positive regulation of synaptic transmission | 1 |
| synaptic transmission, glycinergic | 1 |
| regulation of synaptic transmission, glycinergic | 1 |
| negative regulation of fat cell differentiation | 1 |
| brown fat cell differentiation | 1 |
| regulation of brown fat cell differentiation | 1 |
| cellular process | 1 |
| carboxylic acid transmembrane transporter activity | 1 |
| L-alpha-amino acid transmembrane transport | 1 |
| L-amino acid transmembrane transporter activity | 1 |
| L-serine transport | 1 |
| binding | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
880 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC7A10 | SLC3A2 | P08195 | 974 |
| SLC7A10 | SLC1A4 | P43007 | 612 |
| SLC7A10 | SLC1A5 | Q15758 | 528 |
| SLC7A10 | OVCH2 | Q7RTZ1 | 521 |
| SLC7A10 | SLC3A1 | Q07837 | 512 |
| SLC7A10 | SLC36A2 | Q495M3 | 487 |
| SLC7A10 | SLC1A1 | P43005 | 447 |
| SLC7A10 | C8orf82 | Q6P1X6 | 436 |
| SLC7A10 | SLC6A9 | P48067 | 423 |
| SLC7A10 | SLC6A5 | Q9Y345 | 411 |
| SLC7A10 | SRR | Q9GZT4 | 404 |
| SLC7A10 | TMEM26 | Q6ZUK4 | 403 |
| SLC7A10 | SLC38A2 | Q96QD8 | 391 |
| SLC7A10 | SLC38A1 | Q9H2H9 | 390 |
| SLC7A10 | P2RX5 | Q93086 | 378 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| APPBP2 | SLC7A10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CREB3 | SLC7A10 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC7A10 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| CFTR | SLC7A10 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SLC7A10 | MYO1C | psi-mi:“MI:0914”(association) | 0.350 |
| SLC7A10 | APPBP2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (7): SLC7A10 (Two-hybrid), SLC7A10 (PCA), CA12 (Affinity Capture-MS), CORO1C (Affinity Capture-MS), MYO1C (Affinity Capture-MS), SLC3A2 (Affinity Capture-MS), SLC7A8 (Affinity Capture-MS)
ESM2 similar proteins: A0A6P3HVI0, A0FKN5, A2VDL4, O04289, O14520, O35874, O43511, O70247, O70531, P24942, P33124, P40879, P43003, P43007, P46411, P50443, P53392, P56564, P63115, P63116, P92943, Q495M3, Q5BKR2, Q5R6B8, Q5U4D8, Q60414, Q62273, Q65AC2, Q69DJ1, Q7T2C4, Q86UD5, Q8BHK3, Q8CIW6, Q8K415, Q8WWT9, Q91WC3, Q924C9, Q9BEG8, Q9BXS9, Q9GJY3
Diamond homologs: A1L3M3, D3ZMM8, O34739, P63115, P63116, P82251, P82252, Q01650, Q22397, Q28I80, Q59I64, Q5RAE3, Q5RAG7, Q5RKI7, Q63016, Q7YQK4, Q8BGK6, Q8MH63, Q8TCU3, Q91WN3, Q92536, Q9GIP4, Q9N1Q4, Q9N1R6, Q9NS82, Q9QXA6, Q9QXW9, Q9R0S5, Q9UHI5, Q9UM01, Q9UPY5, Q9WTR6, Q9WVR6, Q9Z127, Q9Z1K8, Q8VIE6, A0JNI9, A8I499, B0UYF2, B3TP03
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
114 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 11 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1782 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:33209483:CAC:C | acceptor_gain | 1.0000 |
| 19:33209484:ACCT:A | acceptor_loss | 1.0000 |
| 19:33209485:CCTGG:C | acceptor_loss | 1.0000 |
| 19:33209486:C:A | acceptor_loss | 1.0000 |
| 19:33209486:C:CC | acceptor_gain | 1.0000 |
| 19:33209487:T:C | acceptor_loss | 1.0000 |
| 19:33210461:CCTCA:C | donor_loss | 1.0000 |
| 19:33210462:CTCA:C | donor_loss | 1.0000 |
| 19:33210464:CA:C | donor_loss | 1.0000 |
| 19:33210465:A:AC | donor_gain | 1.0000 |
| 19:33210465:A:AT | donor_loss | 1.0000 |
| 19:33210466:C:CC | donor_gain | 1.0000 |
| 19:33210466:C:CT | donor_loss | 1.0000 |
| 19:33210542:G:GC | acceptor_gain | 1.0000 |
| 19:33210546:T:TC | acceptor_gain | 1.0000 |
| 19:33210617:C:CC | acceptor_gain | 1.0000 |
| 19:33211220:GTCAC:G | donor_loss | 1.0000 |
| 19:33211221:TCA:T | donor_loss | 1.0000 |
| 19:33211222:CA:C | donor_loss | 1.0000 |
| 19:33211223:AC:A | donor_loss | 1.0000 |
| 19:33211224:C:G | donor_loss | 1.0000 |
| 19:33211327:GTCT:G | acceptor_loss | 1.0000 |
| 19:33211328:TC:T | acceptor_loss | 1.0000 |
| 19:33211329:C:CC | acceptor_gain | 1.0000 |
| 19:33211410:TCA:T | donor_loss | 1.0000 |
| 19:33211411:CAC:C | donor_loss | 1.0000 |
| 19:33211412:A:AC | donor_gain | 1.0000 |
| 19:33211412:A:C | donor_loss | 1.0000 |
| 19:33211413:C:CC | donor_gain | 1.0000 |
| 19:33211413:C:G | donor_loss | 1.0000 |
AlphaMissense
3365 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:33211418:G:T | A303D | 0.999 |
| 19:33215890:A:G | W79R | 0.999 |
| 19:33215890:A:T | W79R | 0.999 |
| 19:33211439:A:G | L296P | 0.998 |
| 19:33211469:G:T | A286D | 0.998 |
| 19:33211474:G:C | N284K | 0.998 |
| 19:33211474:G:T | N284K | 0.998 |
| 19:33215928:A:G | L66P | 0.998 |
| 19:33215948:G:C | F59L | 0.998 |
| 19:33215948:G:T | F59L | 0.998 |
| 19:33215950:A:G | F59L | 0.998 |
| 19:33211467:A:C | Y287D | 0.997 |
| 19:33212351:G:C | F243L | 0.997 |
| 19:33212351:G:T | F243L | 0.997 |
| 19:33212353:A:G | F243L | 0.997 |
| 19:33211321:C:T | G307E | 0.996 |
| 19:33211467:A:G | Y287H | 0.996 |
| 19:33211470:C:G | A286P | 0.996 |
| 19:33212535:C:G | G205R | 0.996 |
| 19:33215877:C:T | G83E | 0.996 |
| 19:33215878:C:G | G83R | 0.996 |
| 19:33215878:C:T | G83R | 0.996 |
| 19:33215888:C:A | W79C | 0.996 |
| 19:33215888:C:G | W79C | 0.996 |
| 19:33215931:A:T | V65D | 0.996 |
| 19:33215940:G:T | P62H | 0.996 |
| 19:33212534:C:T | G205D | 0.995 |
| 19:33215949:A:C | F59C | 0.995 |
| 19:33211322:C:G | G307R | 0.994 |
| 19:33211322:C:T | G307R | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000020126 (19:33220022 C>T), RS1000269239 (19:33214788 A>G), RS1000269834 (19:33221801 A>C), RS1000307483 (19:33225872 C>T), RS1000473195 (19:33209628 G>A), RS1000512302 (19:33216329 C>T), RS1000636416 (19:33213102 C>G,T), RS1000777214 (19:33218090 G>A,C), RS1001005433 (19:33216027 G>A), RS1001192316 (19:33227390 C>G), RS1001323765 (19:33223131 A>T), RS1001447432 (19:33208267 A>T), RS1001476796 (19:33208483 C>A), RS1001608747 (19:33213956 C>T), RS1001807349 (19:33212816 T>C)
Disease associations
OMIM: gene MIM:607959 | disease phenotypes: MIM:601626
GenCC curated gene-disease
Mondo (1): acute myeloid leukemia (MONDO:0018874)
Orphanet (1): Acute myeloid leukemia (Orphanet:519)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
23 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001523_28 | Visceral adipose tissue adjusted for BMI | 1.000000e-06 |
| GCST001524_24 | Visceral adipose tissue/subcutaneous adipose tissue ratio | 5.000000e-06 |
| GCST005038_53 | Allergic disease (asthma, hay fever or eczema) | 6.000000e-18 |
| GCST005976_24 | White blood cell count (basophil) | 3.000000e-13 |
| GCST005996_8 | Red blood cell count | 5.000000e-08 |
| GCST006409_11 | Allergic rhinitis | 6.000000e-13 |
| GCST007563_5 | Allergic disease (asthma, hay fever or eczema) | 3.000000e-08 |
| GCST007564_37 | Asthma or allergic disease (pleiotropy) | 3.000000e-10 |
| GCST007798_110 | Asthma | 1.000000e-27 |
| GCST007799_10 | Asthma (adult onset) | 3.000000e-18 |
| GCST007800_45 | Asthma (childhood onset) | 3.000000e-29 |
| GCST007941_37 | Medication use (adrenergics, inhalants) | 6.000000e-18 |
| GCST007942_6 | Medication use (glucocorticoids) | 2.000000e-09 |
| GCST008916_25 | Asthma | 1.000000e-21 |
| GCST009597_228 | Multiple sclerosis | 4.000000e-06 |
| GCST009720_72 | Asthma | 3.000000e-23 |
| GCST009798_7 | Asthma | 1.000000e-23 |
| GCST010042_140 | Asthma | 2.000000e-29 |
| GCST010043_72 | Asthma | 9.000000e-28 |
| GCST010244_404 | Triglyceride levels | 3.000000e-10 |
| GCST012017_4 | Mastocytosis (KIT D816V positive) | 1.000000e-15 |
| GCST90002381_339 | Eosinophil count | 8.000000e-15 |
| GCST90014325_71 | Asthma | 4.000000e-21 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004767 | visceral:subcutaneous adipose tissue ratio |
| EFO:0005090 | basophil count |
| EFO:0004305 | erythrocyte count |
| EFO:1002011 | adult onset asthma |
| EFO:0009941 | Inhalant adrenergic use measurement |
| EFO:0009942 | Glucocorticoid use measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004842 | eosinophil count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D015470 | Leukemia, Myeloid, Acute | C04.557.337.539.275; C15.378.508.539.275 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC7 family
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 9 |
| entinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 2 |
| dicrotophos | increases expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Aldehydes | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects cotreatment, decreases expression | 1 |
| Triclosan | increases expression | 1 |
| Zidovudine | increases expression, decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4UH | HuH7-SLC7A10-KO-c6 | Cancer cell line | Male |
| CVCL_D4UI | HuH7-SLC7A10-KO-c7 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00199147 | PHASE4 | UNKNOWN | Efficacy of G-CSF-Priming in Elderly AML Patients |
| NCT00304447 | PHASE4 | COMPLETED | Study Evaluating the Effect of Corticosteroids on Mylotarg® Infusion-Related Adverse Events in Patients With Leukemia |
| NCT00464217 | PHASE4 | COMPLETED | Treatment of the Acute Myeloblastic Leukaemia in Patients Over 65 Years |
| NCT00487448 | PHASE4 | COMPLETED | SMD_FLAG-IDA_98: FLAG-IDA in Induction Treatment of High Risk Myelodysplastic Syndromes or Secondary Acute Myeloblastic Leukemia |
| NCT00488709 | PHASE4 | COMPLETED | Fludarabine, Cytarabine, Topotecan in Treating Patients With Relapsed or Refractory Acute Myeloid Leukemia |
| NCT00686543 | PHASE4 | COMPLETED | Oral Posaconazole in High Risk Patients With Gastrointestinal Dysfunction (Study P05115) |
| NCT01041040 | PHASE4 | COMPLETED | LAM07: Study to Analyze the Efficacy of a Risk Adapted Treatment Strategy, Including Gemtuzumab Ozogamicin (GO) During Consolidation, for Patients With Acute Myeloid Leukemia (AML) |
| NCT01198054 | PHASE4 | TERMINATED | LENA-LMA-5:Lenalidomide in Acute Myeloid Leukemia (AML) |
| NCT01200355 | PHASE4 | COMPLETED | Posaconazole Versus Micafungin for Prophylaxis Against Invasive Fungal Infections During Neutropenia in Patients Undergoing Chemotherapy for Acute Myelogenous Leukemia, Acute Lymphocytic Leukemia or Myelodysplastic Syndrome |
| NCT01347996 | PHASE4 | COMPLETED | Maintenance Therapy With Ceplene® (Histamine) and IL-2 on Immune Response and MRD in Acute Myeloid Leukemia |
| NCT01587430 | PHASE4 | UNKNOWN | 3 Anthracyclines, 2 Types of Consolidation With Different ARA-C Doses and Maintenance in Adult Acute Myeloid Leukemia |
| NCT01819792 | PHASE4 | COMPLETED | Respiratory Viral Infections During Acute Myeloid Leukemia (AML)Chemotherapy Related Aplasia |
| NCT02024308 | PHASE4 | UNKNOWN | AML1-ETO Acute Myeloid Leukemia With Fludarabine and Cytarabine Chemotherapy |
| NCT02027064 | PHASE4 | UNKNOWN | Interferon for the Intervention of Molecular Relapse in t (8; 21) AML After Allo-HSCT |
| NCT02277847 | PHASE4 | UNKNOWN | Idarubicin at Different Dosages as Induction Therapy for Newly Diagnosed Acute Myeloid Leukaemia |
| NCT02386800 | PHASE4 | ACTIVE_NOT_RECRUITING | CINC424A2X01B Rollover Protocol |
| NCT02926586 | PHASE4 | COMPLETED | Fludarabine and Cytarabine Versus High-dose Cytarabine for CBF-AML |
| NCT02933333 | PHASE4 | UNKNOWN | G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor |
| NCT03026842 | PHASE4 | UNKNOWN | Decitabine Versus Conventional Chemotherapy for Maintenance Therapy of Acute Myeloid Leukemia With t(8;21) |
| NCT03150134 | PHASE4 | UNKNOWN | Early Tapering of Immunosuppressive Agents to Immunomodulation to Improve Survival of AML Patients |
| NCT05144243 | PHASE4 | ACTIVE_NOT_RECRUITING | Study to Assess Adverse Events and Change in Disease State of Oral Venetoclax in Combination With Subcutaneous (SC) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy in China |
| NCT06370000 | PHASE4 | RECRUITING | Oral Azacitidine in Transplant-Eligible Patients With Acute Myeloid Leukemia (AML) Suffering From Health-Inequality |
| NCT06571825 | PHASE4 | RECRUITING | RIC Allo-HSCT vs. Venetoclax-Based Consolidation in Elderly AML Patients After First CR |
| NCT07016165 | PHASE4 | RECRUITING | Ciprofloxacin vs Ceftazidime for Empirical Treatment of High-Risk Neutropenic Fever in Children With Hematologic Malignancies |
| NCT07044687 | PHASE4 | RECRUITING | Study to Assess Adverse Events and Change in Disease Activity of Oral Venetoclax in Combination With Subcutaneous (SC) or Intravenous (IV) Azacitidine in Newly Diagnosed Adult Participants With Acute Myeloid Leukemia (AML) Who Are Ineligible for Standard Induction Therapy in India |
| NCT07486713 | PHASE4 | RECRUITING | Olutasidenib DDI Study in Patients With IDH1 Mutation Positive Malignancies |
| NCT07561892 | PHASE4 | RECRUITING | Study of the Effectiveness and Safety of Daunorubicin /Idarubicin ± Silibinin in Treating Newly Diagnosed AML (Non-M3). |
| NCT00000589 | PHASE3 | COMPLETED | Trial to Reduce Alloimmunization to Platelets (TRAP) |
| NCT00044486 | PHASE3 | COMPLETED | Prophylaxis Trial of Posaconazole Versus Standard Azole Therapy for Neutropenic Patients (Study P01899) |
| NCT00093990 | PHASE3 | COMPLETED | Tipifarnib Versus Best Supportive Care in the Treatment of Newly Diagnosed Acute Myeloid Leukemia (AML) |
| NCT00125606 | PHASE3 | TERMINATED | Phase 3 Trial for AML Patients in CR2 Comparing 8Gy TBI /Fludarabine to Conditioning With TBI 12Gy/Cyclophosphamide |
| NCT00136084 | PHASE3 | COMPLETED | Treatment of Patients With Newly Diagnosed Acute Myeloid Leukemia or Myelodysplasia |
| NCT00146120 | PHASE3 | COMPLETED | Risk-Adapted Therapy of Acute Myeloid Leukemia of Adults (18-60 Years) According to the Cytogenetic Result |
| NCT00150878 | PHASE3 | TERMINATED | Standard vs. Reduced-Intensity Conditioning in Patients With Acute Myeloid Leukemia in First Remission |
| NCT00151255 | PHASE3 | COMPLETED | All-Trans Retinoic Acid in Combination With Standard Induction and Consolidation Therapy in Older Patients With Newly Diagnosed Acute Myeloid Leukemia |
| NCT00152139 | PHASE3 | COMPLETED | Stem Cell Transplantation for Patients With Hematologic Malignancies |
| NCT00152594 | PHASE3 | TERMINATED | Voriconazole or Placebo in the Prophylaxis of Lung Infiltrates in Patients Undergoing Induction Chemotherapy for Acute Myelogenous Leukemia |
| NCT00186966 | PHASE3 | COMPLETED | Treatment of Children and Adolescents With Refractory or Relapsed Acute Myeloid Leukemia |
| NCT00226512 | PHASE3 | WITHDRAWN | To Determine the Role of Adding Campath-1H or ATG Given In-vivo in Addition to Fludarabine and Low Dose Busulfex on Outcome in Patients Treated With Reduced Intensity Conditioning |
| NCT00260832 | PHASE3 | COMPLETED | Trial of Decitabine in Patients With Acute Myeloid Leukemia |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): acute myeloid leukemia, allergic disease, allergic rhinitis, asthma, childhood onset asthma, mastocytosis, multiple sclerosis