SLC27A3
gene geneOn this page
Also known as FATP3MGC4365ACSVL3
Summary
SLC27A3 (solute carrier family 27 member 3, HGNC:10997) is a protein-coding gene on chromosome 1q21.3, encoding Long-chain fatty acid transport protein 3 (Q5K4L6). Mainly functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates.
This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 11000 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 180 total
- MANE Select transcript:
NM_024330
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10997 |
| Approved symbol | SLC27A3 |
| Name | solute carrier family 27 member 3 |
| Location | 1q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FATP3, MGC4365, ACSVL3 |
| Ensembl gene | ENSG00000143554 |
| Ensembl biotype | protein_coding |
| OMIM | 604193 |
| Entrez | 11000 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 14 protein_coding, 7 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000271857, ENST00000368659, ENST00000368660, ENST00000458027, ENST00000461269, ENST00000468044, ENST00000468403, ENST00000483574, ENST00000484014, ENST00000524676, ENST00000531251, ENST00000532853, ENST00000624995, ENST00000865507, ENST00000865508, ENST00000865509, ENST00000865510, ENST00000865511, ENST00000865512, ENST00000923985, ENST00000955569, ENST00000955570
RefSeq mRNA: 2 — MANE Select: NM_024330
NM_001317929, NM_024330
CCDS: CCDS1053
Canonical transcript exons
ENST00000623839 — 0 exons
Expression profiles
Bgee: expression breadth ubiquitous, 136 present calls, max score 96.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1365 / max 220.1561, expressed in 1614 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 5447 | 6.9446 | 1347 |
| 5445 | 2.3346 | 1114 |
| 5443 | 0.4431 | 199 |
| 201742 | 0.1389 | 65 |
| 5446 | 0.1137 | 42 |
| 5444 | 0.0618 | 20 |
| 5451 | 0.0495 | 6 |
| 5450 | 0.0474 | 19 |
| 201743 | 0.0030 | 2 |
Top tissues by expression
136 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 96.89 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 96.12 | gold quality |
| ascending aorta | UBERON:0001496 | 96.07 | gold quality |
| right lung | UBERON:0002167 | 95.70 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.56 | gold quality |
| right coronary artery | UBERON:0001625 | 95.23 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 95.21 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.96 | gold quality |
| adipose tissue | UBERON:0001013 | 94.89 | gold quality |
| left coronary artery | UBERON:0001626 | 94.78 | gold quality |
| omental fat pad | UBERON:0010414 | 94.55 | gold quality |
| leukocyte | CL:0000738 | 94.30 | gold quality |
| monocyte | CL:0000576 | 94.26 | gold quality |
| right uterine tube | UBERON:0001302 | 94.23 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.15 | gold quality |
| body of stomach | UBERON:0001161 | 94.08 | gold quality |
| fundus of stomach | UBERON:0001160 | 93.89 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 93.84 | gold quality |
| adenohypophysis | UBERON:0002196 | 93.15 | gold quality |
| liver | UBERON:0002107 | 93.09 | gold quality |
| lung | UBERON:0002048 | 92.94 | gold quality |
| apex of heart | UBERON:0002098 | 92.86 | gold quality |
| left uterine tube | UBERON:0001303 | 92.85 | gold quality |
| skin of leg | UBERON:0001511 | 92.76 | gold quality |
| zone of skin | UBERON:0000014 | 92.72 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.71 | gold quality |
| fallopian tube | UBERON:0003889 | 92.68 | gold quality |
| popliteal artery | UBERON:0002250 | 92.62 | gold quality |
| tibial artery | UBERON:0007610 | 92.61 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 16.34 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
4 targeting SLC27A3, 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-556-3P | 99.74 | 68.75 | 1203 |
| HSA-MIR-7111-3P | 97.80 | 66.75 | 1467 |
| HSA-MIR-6736-3P | 96.98 | 65.22 | 1342 |
| HSA-MIR-4774-5P | 95.92 | 68.27 | 827 |
Literature-anchored findings (GeneRIF, showing 4)
- ACSVL3 maintains oncogenic properties of malignant glioma cells via a mechanism that involves, in part, the regulation of Akt function. (PMID:19920185)
- all of 69 different lung tumors tested, including adeno-, squamous cell, large cell, and small cell carcinomas, had robustly elevated ACSVL3 levels. (PMID:23936004)
- Our findings indicate that the lipid metabolism enzyme ACSVL3 is involved in GBM stem cell maintenance and the tumor-initiating capacity of GBM stem cell enriched-neurospheres in animals (PMID:24893952)
- we resequenced the SLC27A3 and SLC27A4 genes using 267 autism spectrum disorders(ASD) patient and 1140 control samples and detected 47 and 30 variants for the SLC27A3 and SLC27A4, revealing that they are highly polymorphic with multiple rare variants. (PMID:26548558)
Cross-species orthologs
27 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000046054 | |
| mus_musculus | Slc27a3 | ENSMUSG00000027932 |
| rattus_norvegicus | Slc27a3 | ENSRNOG00000015421 |
| drosophila_melanogaster | bgm | FBGN0027348 |
| drosophila_melanogaster | pdgy | FBGN0027601 |
| drosophila_melanogaster | CG8834 | FBGN0033733 |
| drosophila_melanogaster | CG17999 | FBGN0034552 |
| drosophila_melanogaster | CG9993 | FBGN0034553 |
| drosophila_melanogaster | Fatp3 | FBGN0034999 |
| drosophila_melanogaster | CG4563 | FBGN0035006 |
| drosophila_melanogaster | CG5568 | FBGN0035641 |
| drosophila_melanogaster | CG18586 | FBGN0035642 |
| drosophila_melanogaster | CG4830 | FBGN0037996 |
| drosophila_melanogaster | Acsx1L | FBGN0038730 |
| drosophila_melanogaster | Acsx1R | FBGN0038731 |
| drosophila_melanogaster | Acsx2 | FBGN0038732 |
| drosophila_melanogaster | Acsx3 | FBGN0038733 |
| drosophila_melanogaster | Acsx4 | FBGN0038734 |
| drosophila_melanogaster | Fatp2 | FBGN0265187 |
| drosophila_melanogaster | Fatp1 | FBGN0267828 |
| drosophila_melanogaster | hll | FBGN0286723 |
| caenorhabditis_elegans | WBGENE00007082 | |
| caenorhabditis_elegans | WBGENE00008669 | |
| caenorhabditis_elegans | WBGENE00009218 | |
| caenorhabditis_elegans | WBGENE00011173 | |
| caenorhabditis_elegans | WBGENE00019920 | |
| caenorhabditis_elegans | WBGENE00022849 |
Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), ACSBG1 (ENSG00000103740), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A2 (ENSG00000140284), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114), ACSL5 (ENSG00000197142)
Protein
Protein identifiers
Long-chain fatty acid transport protein 3 — Q5K4L6 (reviewed: Q5K4L6)
Alternative names: Arachidonate–CoA ligase, Long-chain-fatty-acid–CoA ligase, Solute carrier family 27 member 3, Very long-chain acyl-CoA synthetase homolog 3
All UniProt accessions (5): Q5K4L6, H0YDM5, H0YDP0, H7BZH4, X6R3N0
UniProt curated annotations — full annotation on UniProt →
Function. Mainly functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates. Can mediate the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across membranes.
Subcellular location. Mitochondrion membrane.
Tissue specificity. Expressed in bronchial and bronchiolar epithelial cells (at protein level).
Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5K4L6-1 | 1 | yes |
| Q5K4L6-2 | 2 | |
| Q5K4L6-3 | 3 |
RefSeq proteins (2): NP_001304858, NP_077306* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR020845 | AMP-binding_CS | Conserved_site |
| IPR025110 | AMP-bd_C | Domain |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045851 | AMP-b_sf | Homologous_superfamily |
Pfam: PF00501, PF13193
Catalyzed reactions (Rhea), 8 shown:
- a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:15421)
- (5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:19713)
- hexadecanoate + ATP + CoA = hexadecanoyl-CoA + AMP + diphosphate (RHEA:30751)
- (9Z)-octadecenoate + ATP + CoA = (9Z)-octadecenoyl-CoA + AMP + diphosphate (RHEA:33607)
- tetracosanoate + ATP + CoA = tetracosanoyl-CoA + AMP + diphosphate (RHEA:33639)
- (9Z,12Z)-octadecadienoate + ATP + CoA = (9Z,12Z)-octadecadienoyl-CoA + AMP + diphosphate (RHEA:33651)
- a fatty acid(in) = a fatty acid(out) (RHEA:38879)
- a very long-chain fatty acid + ATP + CoA = a very long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:54536)
UniProt features (18 total): binding site 6, splice variant 3, sequence variant 2, sequence conflict 2, compositionally biased region 2, chain 1, transmembrane region 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5K4L6-F1 | 86.90 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (6): 635; 288–292; 331; 428; 528; 543
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-75876 | Synthesis of very long-chain fatty acyl-CoAs |
| R-HSA-1430728 | Metabolism |
| R-HSA-556833 | Metabolism of lipids |
| R-HSA-75105 | Fatty acyl-CoA biosynthesis |
| R-HSA-8978868 | Fatty acid metabolism |
MSigDB gene sets: 159 (showing top):
REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, RICKMAN_METASTASIS_DN, KOYAMA_SEMA3B_TARGETS_UP, BILD_E2F3_ONCOGENIC_SIGNATURE, INGRAM_SHH_TARGETS_UP, GOBP_ORGANIC_ANION_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, PU1_Q6, GOBP_MONOCARBOXYLIC_ACID_TRANSPORT, AFFAR_YY1_TARGETS_UP
GO Biological Process (5): long-chain fatty acid metabolic process (GO:0001676), fatty acid transport (GO:0015908), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), lipid transport (GO:0006869)
GO Molecular Function (6): long-chain fatty acid-CoA ligase activity (GO:0004467), ATP binding (GO:0005524), very long-chain fatty acid-CoA ligase activity (GO:0031957), arachidonate-CoA ligase activity (GO:0047676), nucleotide binding (GO:0000166), ligase activity (GO:0016874)
GO Cellular Component (6): mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020), mitochondrial membrane (GO:0031966)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Fatty acyl-CoA biosynthesis | 1 |
| Metabolism | 1 |
| Fatty acid metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid-CoA ligase activity | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| organelle membrane | 2 |
| fatty acid metabolic process | 1 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| transport | 1 |
| lipid localization | 1 |
| long-chain fatty acid metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| long-chain fatty acid-CoA ligase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| endomembrane system | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
Protein interactions and networks
STRING
1216 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC27A3 | AASDH | Q4L235 | 741 |
| SLC27A3 | ACSL1 | P33121 | 736 |
| SLC27A3 | SCARB1 | Q8WTV0 | 679 |
| SLC27A3 | VEGFB | P49765 | 657 |
| SLC27A3 | CD36 | P16671 | 510 |
| SLC27A3 | SLC2A10 | O95528 | 468 |
| SLC27A3 | SCARB2 | Q14108 | 463 |
| SLC27A3 | ACSL4 | O60488 | 460 |
| SLC27A3 | SLC35G1 | Q2M3R5 | 445 |
| SLC27A3 | ACP6 | Q9NPH0 | 436 |
| SLC27A3 | ACSL5 | Q9ULC5 | 399 |
| SLC27A3 | COASY | Q13057 | 394 |
| SLC27A3 | ANXA9 | O76027 | 386 |
| SLC27A3 | CD302 | Q8IX05 | 384 |
| SLC27A3 | ACSL3 | O95573 | 372 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| LRFN4 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.530 |
| KIR3DL2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRF4 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ADAM33 | LRP5 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC27A3 | ATP5F1B | psi-mi:“MI:0914”(association) | 0.530 |
| TMEM9 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| EVA1C | STK25 | psi-mi:“MI:0914”(association) | 0.530 |
| SIDT2 | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| FLT4 | ILVBL | psi-mi:“MI:0914”(association) | 0.420 |
| SLC12A8 | SLC27A3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 | |
| FAM189B | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC27A3 | RCCD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS3 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.350 |
| ASIC1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
| CHRND | EXTL3 | psi-mi:“MI:0914”(association) | 0.350 |
| ERLEC1 | UBE2G2 | psi-mi:“MI:0914”(association) | 0.350 |
| SMIM22 | SPINT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ERBB2 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| KCNA2 | TMEM129 | psi-mi:“MI:0914”(association) | 0.350 |
| PCDH10 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| TTYH1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC12 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (134): SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), LIMD1 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), ATP5B (Affinity Capture-MS), BAG3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS)
ESM2 similar proteins: A1A4L8, A2BDX3, A4RPM5, A5GFZ6, A6NK58, B0W377, B3MLX7, B4FAT0, B4LRB9, B4N7R4, B4NXF7, B6TNK6, D3KU66, D3KU67, O08600, O19179, O43323, O95396, P22989, P29038, P52785, P55203, P85971, Q02846, Q08DH8, Q0VFH3, Q14249, Q14BV6, Q17CA7, Q3KQV9, Q3TW96, Q561R2, Q58E95, Q5K4L6, Q5PQQ1, Q5ZKI2, Q61488, Q6PAT0, Q7PY41, Q7QFL7
Diamond homologs: E9Q9W4, O05307, O14975, O35488, O42633, O88561, P38225, P97524, P97849, Q3ZKN0, Q4LDG0, Q4R3Y4, Q5K4L6, Q5RDY4, Q60714, Q6P1M0, Q6PCB7, Q8J0E9, Q91VE0, Q9ES38, Q9Y2P4, Q9Y2P5, A0A0U1LQE6, A0A1R3RGK1, G3J9P0, I1S2J4, O53551, Q0S4D7, Q7TWC5, B2HHZ8, A1JIK3, A1RIK1, A1SZA2, A1U2S9, A1UWN5, A2RYW5, A3D3E8, A3MG40, A3NH07, A3P2K7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLC27A3 | “up-regulates quantity” | “Fatty acid” | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chloride transmembrane transport | 5 | 13.5× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
180 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 144 |
| Likely benign | 7 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1602 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:153777142:G:GT | donor_gain | 1.0000 |
| 1:153778159:A:AG | acceptor_gain | 1.0000 |
| 1:153778160:G:GG | acceptor_gain | 1.0000 |
| 1:153778160:GA:G | acceptor_gain | 1.0000 |
| 1:153778160:GAGCA:G | acceptor_gain | 1.0000 |
| 1:153778315:G:GT | donor_gain | 1.0000 |
| 1:153778351:ACAAG:A | donor_loss | 1.0000 |
| 1:153778353:AAGGT:A | donor_loss | 1.0000 |
| 1:153778354:AGGTG:A | donor_loss | 1.0000 |
| 1:153778357:T:A | donor_loss | 1.0000 |
| 1:153778796:T:TA | acceptor_gain | 1.0000 |
| 1:153777057:CACA:C | acceptor_loss | 0.9900 |
| 1:153777059:CA:C | acceptor_loss | 0.9900 |
| 1:153777060:A:AG | acceptor_gain | 0.9900 |
| 1:153777060:AGGC:A | acceptor_loss | 0.9900 |
| 1:153777061:G:A | acceptor_loss | 0.9900 |
| 1:153777061:G:GG | acceptor_gain | 0.9900 |
| 1:153777061:GGC:G | acceptor_gain | 0.9900 |
| 1:153777221:G:GC | donor_loss | 0.9900 |
| 1:153777221:G:GG | donor_gain | 0.9900 |
| 1:153777222:T:G | donor_loss | 0.9900 |
| 1:153777745:T:TA | acceptor_gain | 0.9900 |
| 1:153777755:T:A | acceptor_gain | 0.9900 |
| 1:153777758:CAGG:C | acceptor_loss | 0.9900 |
| 1:153777760:G:GC | acceptor_loss | 0.9900 |
| 1:153777837:GTTCC:G | donor_gain | 0.9900 |
| 1:153777843:G:GG | donor_gain | 0.9900 |
| 1:153777883:CCGG:C | donor_loss | 0.9900 |
| 1:153777884:CGG:C | donor_loss | 0.9900 |
| 1:153777885:GGTG:G | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000047626 (1:153776238 CT>C), RS1000117329 (1:153777350 C>T), RS1000406635 (1:153777765 C>G), RS1000550832 (1:153774982 G>A,C), RS1000652873 (1:153779590 C>T), RS1000687067 (1:153778884 A>C,G), RS1000751182 (1:153774108 G>A), RS1000756506 (1:153777967 G>A,T), RS1000866146 (1:153774280 A>T), RS1001146776 (1:153778746 G>A,C), RS1001930434 (1:153779387 C>T), RS1002033446 (1:153774728 C>G,T), RS1002552547 (1:153774984 G>A), RS1003487041 (1:153780165 T>A,C), RS1003601829 (1:153780457 A>G)
Disease associations
OMIM: gene MIM:604193 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003796_1 | Number of children ever born | 2.000000e-08 |
| GCST006047_1 | Number of children ever born | 8.000000e-06 |
| GCST007576_218 | Chronotype | 2.000000e-09 |
| GCST008839_315 | Height | 2.000000e-12 |
| GCST010136_18 | Fruit consumption | 3.000000e-08 |
| GCST010137_3 | Cooked vegetable consumption | 3.000000e-09 |
| GCST010138_14 | Raw vegetable consumption | 5.000000e-11 |
| GCST010142_60 | Fish- and plant-related diet | 4.000000e-09 |
| GCST010142_92 | Fish- and plant-related diet | 6.000000e-14 |
| GCST010696_22 | Cortical thickness (min-P) | 4.000000e-10 |
| GCST010697_50 | Cortical surface area (min-P) | 1.000000e-12 |
| GCST010698_81 | Subcortical volume (min-P) | 1.000000e-23 |
| GCST010699_7 | Brain morphology (min-P) | 1.000000e-10 |
| GCST010700_11 | Cortical thickness (MOSTest) | 4.000000e-13 |
| GCST010701_73 | Cortical surface area (MOSTest) | 4.000000e-09 |
| GCST010702_45 | Subcortical volume (MOSTest) | 4.000000e-10 |
| GCST010703_276 | Brain morphology (MOSTest) | 2.000000e-15 |
| GCST011780_10 | Neonatal white matter microstructure | 4.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009102 | number of children ever born measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004840 | cortical thickness |
| EFO:0005674 | white matter microstructure measurement |
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 — SLC27 family of fatty acid transporters
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 4 |
| bisphenol S | affects expression, increases expression, affects cotreatment | 3 |
| Benzo(a)pyrene | decreases methylation, increases expression, increases methylation | 2 |
| Dexamethasone | increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| pirinixic acid | decreases expression, increases activity, affects binding | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| dicyclohexyl phthalate | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol B | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Cannabidiol | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 3 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4E6 | HEK-SLC27A3-KO-c1 | Transformed cell line | Female |
| CVCL_D4VI | LS180-SLC27A3-KO-c1 | Cancer cell line | Female |
| CVCL_D4VJ | LS180-SLC27A3-KO-c6 | Cancer cell line | Female |
| CVCL_TM68 | HAP1 SLC27A3 (-) | 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.