SLC27A4
gene geneOn this page
Also known as FATP4ACSVL4FATP-4
Summary
SLC27A4 (solute carrier family 27 member 4, HGNC:10998) is a protein-coding gene on chromosome 9q34.11, encoding Long-chain fatty acid transport protein 4 (Q6P1M0). Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes.
This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome.
Source: NCBI Gene 10999 — RefSeq curated summary.
At a glance
- Gene–disease (curated): ichthyosis prematurity syndrome (Definitive, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 553 total — 28 pathogenic, 21 likely-pathogenic
- Phenotypes (HPO): 20
- Druggable target: yes
- MANE Select transcript:
NM_005094
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10998 |
| Approved symbol | SLC27A4 |
| Name | solute carrier family 27 member 4 |
| Location | 9q34.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FATP4, ACSVL4, FATP-4 |
| Ensembl gene | ENSG00000167114 |
| Ensembl biotype | protein_coding |
| OMIM | 604194 |
| Entrez | 10999 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 20 protein_coding
ENST00000300456, ENST00000372870, ENST00000875273, ENST00000875274, ENST00000875275, ENST00000875276, ENST00000875277, ENST00000875278, ENST00000875279, ENST00000875280, ENST00000875281, ENST00000936236, ENST00000936237, ENST00000936238, ENST00000936239, ENST00000963238, ENST00000963239, ENST00000963240, ENST00000963241, ENST00000963242
RefSeq mRNA: 1 — MANE Select: NM_005094
NM_005094
CCDS: CCDS6899
Canonical transcript exons
ENST00000300456 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001109910 | 128355053 | 128355190 |
| ENSE00001109931 | 128353415 | 128353541 |
| ENSE00001109932 | 128355650 | 128355796 |
| ENSE00001145261 | 128352638 | 128352747 |
| ENSE00001145268 | 128350484 | 128350575 |
| ENSE00001145277 | 128350312 | 128350381 |
| ENSE00001145282 | 128348545 | 128348703 |
| ENSE00001145289 | 128345155 | 128345549 |
| ENSE00001379016 | 128353025 | 128353234 |
| ENSE00001634746 | 128355398 | 128355562 |
| ENSE00001710189 | 128343127 | 128343293 |
| ENSE00001905619 | 128360334 | 128361470 |
| ENSE00001921123 | 128340527 | 128340838 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 96.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.4281 / max 140.8232, expressed in 1766 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 98750 | 9.1522 | 1738 |
| 98752 | 3.9590 | 1327 |
| 98751 | 0.3169 | 132 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 96.48 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.50 | gold quality |
| jejunal mucosa | UBERON:0000399 | 95.00 | gold quality |
| duodenum | UBERON:0002114 | 94.12 | gold quality |
| upper arm skin | UBERON:0004263 | 94.03 | silver quality |
| ileal mucosa | UBERON:0000331 | 93.03 | gold quality |
| esophagus mucosa | UBERON:0002469 | 92.72 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.43 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.71 | gold quality |
| skin of leg | UBERON:0001511 | 90.23 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.03 | gold quality |
| hypothalamus | UBERON:0001898 | 89.92 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.74 | gold quality |
| frontal cortex | UBERON:0001870 | 89.46 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 89.43 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.29 | gold quality |
| zone of skin | UBERON:0000014 | 88.82 | gold quality |
| apex of heart | UBERON:0002098 | 88.80 | gold quality |
| neocortex | UBERON:0001950 | 88.79 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.76 | gold quality |
| oral cavity | UBERON:0000167 | 88.69 | gold quality |
| jejunum | UBERON:0002115 | 88.51 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 88.48 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 88.37 | gold quality |
| esophagus | UBERON:0001043 | 88.18 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.15 | gold quality |
| substantia nigra | UBERON:0002038 | 88.14 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.08 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 87.81 | gold quality |
| small intestine | UBERON:0002108 | 87.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.60 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PPARG
miRNA regulators (miRDB)
70 targeting SLC27A4, 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-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-3162-3P | 100.00 | 65.37 | 363 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
Literature-anchored findings (GeneRIF, showing 25)
- findings propose fatty acid transport protein 4 as a candidate gene for the insulin resistance syndrome (PMID:14715877)
- intra-pair correlations revealed that FATP4 expression was significantly up-regulated in acquired obesity." (PMID:15168018)
- Data suggest that endogenous FATP4 does not function to translocate fatty acids across the plasma membrane, but functions more as a very long-chain acyl-CoA synthetase. (PMID:17901542)
- Mutations in FATP4 gene cause the ichthyosis prematurity syndrome. (PMID:19631310)
- Mutation in FATP4 in a patient with self-healing congenital verruciform hyperkeratosis.( (PMID:20815031)
- even though hypoxia regulates the expression of FATP2 and FATP4 in human trophoblasts, mouse Fatp2 and Fatp4 are not essential for intrauterine fetal growth. (PMID:22028793)
- FATP1 and FATP4 proteins perform different functional roles in handling long chain fatty acids in skeletal muscle (PMID:22235293)
- FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum (PMID:23271751)
- FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function (PMID:23290633)
- the clinical implications of defects in these transporters and relevant animal models, including the FATP4 animal models and ichthyosis prematurity syndrome, a congenital ichthyosis caused by FATP4 deficiency. [review] (PMID:24120574)
- the cell surface protein CD36/FAT directly facilitates fatty acid transport across the plasma membrane, whereas the intracellular acyl-CoA synthetases FATP4 and ACSL1 enhance fatty acid uptake indirectly by metabolic trapping (PMID:24503477)
- We describe two siblings with ichthyosis prematurity syndrome and report a recurrent homozygous mutation (c.1430T>A) that is predicted to lead to a p.Val477Asp substitution in fatty acid transport protein 4. (PMID:24889544)
- SLC27A4 gene mutation is responsible in the diagnosis of ichthyosis prematurity syndrome in a premature infant. (PMID:26341232)
- 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)
- The results have interesting implications that SLC27A4/ATG4B complex might be conducive to the occurrence of autophagy in human cancer cells, which is meaningful investigations toward the aim of developing autophagy-targeting drugs and have significant values in clinical application. (PMID:26662804)
- no association between placental expression and maternal body mass index (PMID:27016784)
- expand the mutational repertory of FATP4 with three undescribed pathogenic mutations in two families (PMID:27168232)
- Case Report: ichthyosis prematurity syndrome caused by novel homozygous mutation in SLC27A4. (PMID:29701233)
- high SLC27A4 is associated with tumor progression in breast cancer cells. (PMID:30388870)
- High FATP4 expression was associated with poor prognosis in clear cell renal cell carcinoma. (PMID:31089396)
- Impacts of deletion and ichthyosis prematurity syndrome-associated mutations in fatty acid transport protein 4 on the function of RPE65. (PMID:31595490)
- The positive feedback between ACSL4 expression and O-GlcNAcylation contributes to the growth and survival of hepatocellular carcinoma. (PMID:32357142)
- Physical Activity During Pregnancy Is Associated with Increased Placental FATP4 Protein Expression. (PMID:32519158)
- SLC27A4-mediated selective uptake of mono-unsaturated fatty acids promotes ferroptosis defense in hepatocellular carcinoma. (PMID:36924851)
- PLIN5 interacts with FATP4 at membrane contact sites to promote lipid droplet-to-mitochondria fatty acid transport. (PMID:37290445)
Cross-species orthologs
27 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | slc27a4 | ENSDARG00000017047 |
| mus_musculus | Slc27a4 | ENSMUSG00000059316 |
| rattus_norvegicus | Slc27a4 | ENSRNOG00000014369 |
| 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), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), ACSL5 (ENSG00000197142)
Protein
Protein identifiers
Long-chain fatty acid transport protein 4 — Q6P1M0 (reviewed: Q6P1M0)
Alternative names: Arachidonate–CoA ligase, Long-chain-fatty-acid–CoA ligase, Solute carrier family 27 member 4, Very long-chain acyl-CoA synthetase 4
All UniProt accessions (1): Q6P1M0
UniProt curated annotations — full annotation on UniProt →
Function. Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes. Appears to be the principal fatty acid transporter in small intestinal enterocytes. Also 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, which prevents fatty acid efflux from cells and might drive more fatty acid uptake. Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis. Probably involved in fatty acid transport across the blood barrier. Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones.
Subcellular location. Endoplasmic reticulum membrane.
Tissue specificity. Expressed at highest levels in brain, testis, colon and kidney. Expressed at medium levels in heart and liver, small intestine and stomach. Expressed at low levels in peripheral leukocytes, bone marrow, skeletal muscle and aorta. Expressed in adipose tissue. Expressed in brain gray matter.
Disease relevance. Ichthyosis prematurity syndrome (IPS) [MIM:608649] A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. SLC27A4/FATP4-mediated fatty acid uptake is associated to paramaters related to insulin resistance, which is associated with disturbed fatty acid metabolism and homeostasis, such as obesity. SLC27A4/FATP4 expression is positively correlated with acquired obesity.
Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P1M0-1 | 1 | yes |
| Q6P1M0-2 | 2 |
RefSeq proteins (1): NP_005085* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR020845 | AMP-binding_CS | Conserved_site |
| IPR022272 | Lipocalin_CS | Conserved_site |
| IPR025110 | AMP-bd_C | Domain |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045851 | AMP-b_sf | Homologous_superfamily |
Pfam: PF00501, PF13193
Enzyme classification (BRENDA):
- EC 6.2.1.3 — long-chain-fatty-acid-CoA ligase (BRENDA: 48 organisms, 205 substrates, 100 inhibitors, 159 Km, 11 kcat entries)
Substrate kinetics (BRENDA)
48 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.025–12.21 | 28 |
| COA | 0.0005–4.7 | 21 |
| PALMITATE | 0.0002–6 | 19 |
| OLEATE | 0.0014–3 | 9 |
| ARACHIDONATE | 0.0065–9.7 | 6 |
| STEARATE | 0.0002–0.12 | 6 |
| DECANOATE | 0.004–0.0083 | 4 |
| LAURATE | 0.0005–0.002 | 4 |
| LINOLEATE | 0.0022–0.041 | 4 |
| MYRISTATE | 0.0002–0.0024 | 4 |
| OCTANOATE | 0.0007–0.0408 | 4 |
| LAURIC ACID | 0.0017–0.0163 | 3 |
| LINOLENATE | 0.0016–0.0073 | 2 |
| OCTADECANOATE | 0.061–0.072 | 2 |
| PALMITOLEATE | 0.0015–0.002 | 2 |
Catalyzed reactions (Rhea), 11 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)-octadecenoate(out) = (9Z)-octadecenoate(in) (RHEA:33655)
- (E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate (RHEA:36139)
- a fatty acid(in) = a fatty acid(out) (RHEA:38879)
- hexadecanoate(out) = hexadecanoate(in) (RHEA:45256)
- (9Z,12Z)-octadecadienoate(out) = (9Z,12Z)-octadecadienoate(in) (RHEA:45264)
- a very long-chain fatty acid + ATP + CoA = a very long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:54536)
UniProt features (14 total): sequence variant 6, transmembrane region 2, sequence conflict 2, splice variant 2, chain 1, binding site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P1M0-F1 | 90.72 | 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 (1): 243–254
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5619108 | Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) |
| R-HSA-804914 | Transport of fatty acids |
| R-HSA-1643685 | Disease |
| R-HSA-382551 | Transport of small molecules |
| R-HSA-425397 | Transport of vitamins, nucleosides, and related molecules |
| R-HSA-425407 | SLC-mediated transmembrane transport |
| R-HSA-5619102 | SLC transporter disorders |
| R-HSA-5619115 | Disorders of transmembrane transporters |
MSigDB gene sets: 230 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_CIRCULATORY_SYSTEM_PROCESS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_ORGANIC_ACID_TRANSPORT, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS
GO Biological Process (18): medium-chain fatty acid transport (GO:0001579), long-chain fatty acid metabolic process (GO:0001676), fatty acid metabolic process (GO:0006631), response to nutrient (GO:0007584), fatty acid transport (GO:0015908), long-chain fatty acid transport (GO:0015909), very long-chain fatty acid catabolic process (GO:0042760), positive regulation of apoptotic process (GO:0043065), skin development (GO:0043588), glucose import in response to insulin stimulus (GO:0044381), long-chain fatty acid import into cell (GO:0044539), negative regulation of insulin receptor signaling pathway (GO:0046627), establishment of localization in cell (GO:0051649), transport across blood-brain barrier (GO:0150104), lipid transport across blood-brain barrier (GO:1990379), very long-chain fatty acid metabolic process (GO:0000038), lipid metabolic process (GO:0006629), lipid transport (GO:0006869)
GO Molecular Function (10): nucleotide binding (GO:0000166), long-chain fatty acid-CoA ligase activity (GO:0004467), long-chain fatty acid transmembrane transporter activity (GO:0005324), fatty acid transmembrane transporter activity (GO:0015245), very long-chain fatty acid-CoA ligase activity (GO:0031957), arachidonate-CoA ligase activity (GO:0047676), palmitoyl-CoA ligase activity (GO:0090433), oleoyl-CoA ligase activity (GO:0090434), protein binding (GO:0005515), ligase activity (GO:0016874)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), microvillus (GO:0005902), membrane (GO:0016020), brush border membrane (GO:0031526)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| SLC transporter disorders | 1 |
| Transport of vitamins, nucleosides, and related molecules | 1 |
| SLC-mediated transmembrane transport | 1 |
| Transport of small molecules | 1 |
| Disorders of transmembrane transporters | 1 |
| Disease | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| fatty acid transport | 3 |
| long-chain fatty acid-CoA ligase activity | 3 |
| fatty acid metabolic process | 2 |
| lipid transport | 2 |
| long-chain fatty acid transport | 2 |
| fatty acid-CoA ligase activity | 2 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| response to nutrient levels | 1 |
| response to chemical | 1 |
| monocarboxylic acid transport | 1 |
| very long-chain fatty acid metabolic process | 1 |
| fatty acid catabolic process | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| positive regulation of programmed cell death | 1 |
| animal organ development | 1 |
| cellular response to insulin stimulus | 1 |
| D-glucose import across plasma membrane | 1 |
| import into cell | 1 |
| lipid import into cell | 1 |
| insulin receptor signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| regulation of insulin receptor signaling pathway | 1 |
| negative regulation of cellular response to insulin stimulus | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| vascular transport | 1 |
| transport across blood-brain barrier | 1 |
| primary metabolic process | 1 |
| transport | 1 |
| lipid localization | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| long-chain fatty acid metabolic process | 1 |
| fatty acid transmembrane transporter activity | 1 |
| monocarboxylic acid transmembrane transporter activity | 1 |
| lipid transmembrane transporter activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
Protein interactions and networks
STRING
1784 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC27A4 | AASDH | Q4L235 | 843 |
| SLC27A4 | ACSL1 | P33121 | 791 |
| SLC27A4 | CD36 | P16671 | 742 |
| SLC27A4 | SCARB1 | Q8WTV0 | 719 |
| SLC27A4 | SCARB2 | Q14108 | 718 |
| SLC27A4 | PPARA | Q07869 | 701 |
| SLC27A4 | COASY | Q13057 | 695 |
| SLC27A4 | NIPAL4 | Q0D2K0 | 681 |
| SLC27A4 | PNPLA1 | Q8N8W4 | 663 |
| SLC27A4 | PPARG | P37231 | 651 |
| SLC27A4 | LIPE | Q05469 | 632 |
| SLC27A4 | GOT2 | P00505 | 632 |
| SLC27A4 | PPARD | Q03181 | 605 |
| SLC27A4 | CAV1 | Q03135 | 589 |
| SLC27A4 | CYP4F22 | Q6NT55 | 580 |
| SLC27A4 | PLIN1 | O60240 | 580 |
IntAct
96 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BECN1 | ZWINT | psi-mi:“MI:0914”(association) | 0.750 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| PCNA | POM121C | psi-mi:“MI:0914”(association) | 0.550 |
| PEX19 | FAM20B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CD63 | LGALS8 | psi-mi:“MI:0914”(association) | 0.530 |
| GPN3 | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| OGFOD3 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| PBXIP1 | KCNN4 | psi-mi:“MI:0914”(association) | 0.530 |
| PEX19 | MYO1D | psi-mi:“MI:0914”(association) | 0.530 |
| pipB2 | SCD | psi-mi:“MI:0914”(association) | 0.460 |
| vpu | SCAMP3 | psi-mi:“MI:0914”(association) | 0.460 |
| SMUG1 | SLC27A4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SLC27A4 | EPS8 | psi-mi:“MI:0915”(physical association) | 0.370 |
| OTUB1 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTUB1 | EPM2A | psi-mi:“MI:0914”(association) | 0.350 |
| Tpx2 | NFKBIE | psi-mi:“MI:0914”(association) | 0.350 |
| Dennd6a | IFT88 | psi-mi:“MI:0914”(association) | 0.350 |
| Strn3 | STK24 | psi-mi:“MI:0914”(association) | 0.350 |
| Sod1 | ZC3H18 | psi-mi:“MI:0914”(association) | 0.350 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HAX1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (319): SLC27A4 (Affinity Capture-RNA), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-MS), SLC27A4 (Affinity Capture-RNA), SLC27A4 (Affinity Capture-MS)
ESM2 similar proteins: A2AI05, D3ZDK7, E1BNQ4, O55240, O70249, P21139, P24298, P25409, P50336, P51175, P56602, P97849, Q03426, Q1JPJ0, Q27979, Q2KJF7, Q3T0A0, Q3ZKN0, Q498R1, Q4JIJ2, Q5E9M9, Q5E9T8, Q5R7A2, Q5RK23, Q60714, Q60HD5, Q6AYG0, Q6NRG5, Q6P1M0, Q6P3E7, Q6PCB7, Q6PFP6, Q7TSA0, Q8BNV1, Q8BZG5, Q8C1A3, Q8CHP8, Q8IXI1, Q8JZN7, Q8QZR5
Diamond homologs: A0A0A2J5U8, A1U2S9, B2KWI3, C1AA44, J5JLF2, K0E2F3, O07610, O53521, O68040, P13129, P16929, P27095, P38135, P63521, P63522, P69451, P69452, P94547, P9WQ44, P9WQ45, Q07VK4, Q0AFF1, Q0K844, Q0P4F7, Q15YI8, Q17QJ1, Q26304, Q336M7, Q42524, Q42982, Q499N5, Q4R3Y4, Q4WR83, Q54P78, Q5RDY4, Q5SIW6, Q6BS00, Q6MNF1, Q6P1M0, Q72J95
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SLC27A4 | “up-regulates quantity” | “Fatty acid” | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
553 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 28 |
| Likely pathogenic | 21 |
| Uncertain significance | 130 |
| Likely benign | 320 |
| Benign | 17 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1171020 | NM_005094.4(SLC27A4):c.1208G>A (p.Cys403Tyr) | Pathogenic |
| 1171021 | NM_005094.4(SLC27A4):c.1529G>A (p.Arg510His) | Pathogenic |
| 1171022 | NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs) | Pathogenic |
| 1171023 | NM_005094.4(SLC27A4):c.988-19A>G | Pathogenic |
| 1686197 | NM_005094.4(SLC27A4):c.1065del (p.Arg356fs) | Pathogenic |
| 2014020 | NM_005094.4(SLC27A4):c.878-1G>A | Pathogenic |
| 225105 | NM_005094.4(SLC27A4):c.1774G>A (p.Gly592Arg) | Pathogenic |
| 2425294 | NC_000009.11:g.(?131107414)(131112874_?)del | Pathogenic |
| 2704558 | NM_005094.4(SLC27A4):c.1461_1462del (p.Thr487_Gly488insTer) | Pathogenic |
| 2704779 | NM_005094.4(SLC27A4):c.1369del (p.Leu457fs) | Pathogenic |
| 2735354 | NM_005094.4(SLC27A4):c.1A>G (p.Met1Val) | Pathogenic |
| 2753014 | NM_005094.4(SLC27A4):c.1394del (p.Asn465fs) | Pathogenic |
| 2766751 | NM_005094.4(SLC27A4):c.1167C>A (p.Cys389Ter) | Pathogenic |
| 2773196 | NM_005094.4(SLC27A4):c.1060C>T (p.Gln354Ter) | Pathogenic |
| 2795966 | NM_005094.4(SLC27A4):c.28del (p.Val10fs) | Pathogenic |
| 2796897 | NM_005094.4(SLC27A4):c.1318C>T (p.Gln440Ter) | Pathogenic |
| 2822452 | NM_005094.4(SLC27A4):c.839del (p.Asp280fs) | Pathogenic |
| 2866939 | NM_005094.4(SLC27A4):c.863del (p.Leu288fs) | Pathogenic |
| 2878187 | NM_005094.4(SLC27A4):c.1711A>T (p.Lys571Ter) | Pathogenic |
| 3245333 | NC_000009.11:g.(?131115674)(131115840_?)del | Pathogenic |
| 3245334 | NC_000009.11:g.(?131105412)(131107848_?)del | Pathogenic |
| 3245335 | NC_000009.11:g.(?131108613)(131112753_?)del | Pathogenic |
| 3254621 | NM_005094.4(SLC27A4):c.871_877+19del | Pathogenic |
| 3616805 | NM_005094.4(SLC27A4):c.1104G>A (p.Trp368Ter) | Pathogenic |
| 3657765 | NM_005094.4(SLC27A4):c.916_919del (p.Met306fs) | Pathogenic |
| 5744 | NM_005094.4(SLC27A4):c.274G>A (p.Ala92Thr) | Pathogenic |
| 5747 | NM_005094.4(SLC27A4):c.988-2A>G | Pathogenic |
| 872094 | NM_005094.4(SLC27A4):c.1211_1215del (p.Gly404fs) | Pathogenic |
| 1474709 | NM_005094.4(SLC27A4):c.715+1G>T | Likely pathogenic |
| 1696265 | NM_005094.4(SLC27A4):c.-6-2A>G | Likely pathogenic |
SpliceAI
1919 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:128340834:GCCGG:G | donor_gain | 1.0000 |
| 9:128340836:CGGG:C | donor_loss | 1.0000 |
| 9:128340837:GG:G | donor_gain | 1.0000 |
| 9:128340838:GG:G | donor_gain | 1.0000 |
| 9:128340838:GGT:G | donor_loss | 1.0000 |
| 9:128340839:G:GG | donor_gain | 1.0000 |
| 9:128343121:CCGCA:C | acceptor_loss | 1.0000 |
| 9:128343123:GCAG:G | acceptor_loss | 1.0000 |
| 9:128343124:CA:C | acceptor_loss | 1.0000 |
| 9:128343125:A:AG | acceptor_gain | 1.0000 |
| 9:128343125:AGGC:A | acceptor_loss | 1.0000 |
| 9:128343126:G:GG | acceptor_gain | 1.0000 |
| 9:128343126:GGCC:G | acceptor_gain | 1.0000 |
| 9:128343126:GGCCA:G | acceptor_gain | 1.0000 |
| 9:128343289:ATCTT:A | donor_gain | 1.0000 |
| 9:128343290:TCTT:T | donor_gain | 1.0000 |
| 9:128343292:TT:T | donor_gain | 1.0000 |
| 9:128343294:G:GG | donor_gain | 1.0000 |
| 9:128343295:T:A | donor_loss | 1.0000 |
| 9:128343296:GAG:G | donor_loss | 1.0000 |
| 9:128345149:A:AG | acceptor_gain | 1.0000 |
| 9:128345150:C:G | acceptor_gain | 1.0000 |
| 9:128345151:ACAGT:A | acceptor_gain | 1.0000 |
| 9:128345152:C:G | acceptor_gain | 1.0000 |
| 9:128345153:A:AG | acceptor_gain | 1.0000 |
| 9:128345153:AGT:A | acceptor_gain | 1.0000 |
| 9:128345154:G:GT | acceptor_gain | 1.0000 |
| 9:128345154:GT:G | acceptor_gain | 1.0000 |
| 9:128345154:GTG:G | acceptor_gain | 1.0000 |
| 9:128345154:GTGGC:G | acceptor_gain | 1.0000 |
AlphaMissense
4165 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:128350339:G:A | G248D | 1.000 |
| 9:128355400:G:C | D489H | 1.000 |
| 9:128355401:A:G | D489G | 1.000 |
| 9:128355401:A:T | D489V | 1.000 |
| 9:128355445:C:A | R504S | 1.000 |
| 9:128355446:G:C | R504P | 1.000 |
| 9:128350338:G:C | G248R | 0.999 |
| 9:128350338:G:T | G248C | 0.999 |
| 9:128350339:G:T | G248V | 0.999 |
| 9:128350363:C:A | A256D | 0.999 |
| 9:128350381:G:T | R262M | 0.999 |
| 9:128350566:C:G | H290D | 0.999 |
| 9:128350568:C:A | H290Q | 0.999 |
| 9:128350568:C:G | H290Q | 0.999 |
| 9:128352638:G:A | G293E | 0.999 |
| 9:128352700:T:C | F314L | 0.999 |
| 9:128352702:C:A | F314L | 0.999 |
| 9:128352702:C:G | F314L | 0.999 |
| 9:128352718:T:A | W320R | 0.999 |
| 9:128352718:T:C | W320R | 0.999 |
| 9:128352729:T:G | C323W | 0.999 |
| 9:128352744:C:G | C328W | 0.999 |
| 9:128353059:T:C | L341P | 0.999 |
| 9:128353122:G:A | G362D | 0.999 |
| 9:128353191:G:A | G385E | 0.999 |
| 9:128353197:C:T | T387I | 0.999 |
| 9:128353199:G:A | E388K | 0.999 |
| 9:128353200:A:T | E388V | 0.999 |
| 9:128353207:C:A | N390K | 0.999 |
| 9:128353207:C:G | N390K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000465116 (9:128356327 G>A), RS1000798464 (9:128357819 C>A,T), RS1000822737 (9:128345384 A>G), RS1001018277 (9:128345781 C>T), RS1001282272 (9:128345694 A>G), RS1001312303 (9:128351961 C>T), RS1001372129 (9:128361021 A>T), RS1001394841 (9:128340172 C>T), RS1001424550 (9:128360756 A>C,G), RS1001741353 (9:128340059 T>C), RS1001874724 (9:128344407 T>C,G), RS1001875013 (9:128339313 G>A), RS1002197318 (9:128357129 G>A,T), RS1002218318 (9:128356628 AC>A), RS1002223741 (9:128344177 T>G)
Disease associations
OMIM: gene MIM:604194 | disease phenotypes: MIM:608649, MIM:242300
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| ichthyosis prematurity syndrome | Definitive | Autosomal recessive |
Mondo (3): ichthyosis prematurity syndrome (MONDO:0012089), lamellar ichthyosis (MONDO:0017778), autosomal recessive congenital ichthyosis (MONDO:0017265)
Orphanet (3): Ichthyosis-prematurity syndrome (Orphanet:88621), Lamellar ichthyosis (Orphanet:313), Autosomal recessive congenital ichthyosis (Orphanet:281097)
HPO phenotypes
20 total (20 of 20 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0000989 | Pruritus |
| HP:0001019 | Erythroderma |
| HP:0001561 | Polyhydramnios |
| HP:0001622 | Premature birth |
| HP:0001880 | Increased total eosinophil count |
| HP:0002099 | Asthma |
| HP:0002293 | Alopecia of scalp |
| HP:0002643 | Neonatal respiratory distress |
| HP:0003193 | Allergic rhinitis |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0007503 | Generalized ichthyosis |
| HP:0007549 | Desquamation of skin soon after birth |
| HP:0008064 | Ichthyosis |
| HP:0011971 | Dermatographic urticaria |
| HP:0012768 | Neonatal asphyxia |
| HP:0025092 | Epidermal acanthosis |
| HP:0025724 | Caseous vernix-like desquamation |
| HP:0500093 | Food allergy |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_65 | Body mass index | 5.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536271 | Ichthyosis prematurity syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4327 (SINGLE PROTEIN)
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
Most potent curated ligand interactions (1 total), top 1:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| compound 1l [PMID: 16644217] | Inhibition | 7.05 | pIC50 |
ChEMBL bioactivities
28 potent at pChembl≥5 of 32 total, top 28 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.05 | IC50 | 90 | nM | CHEMBL209855 |
| 6.82 | IC50 | 150 | nM | CHEMBL211612 |
| 6.75 | IC50 | 180 | nM | CHEMBL426323 |
| 6.70 | IC50 | 200 | nM | CHEMBL211941 |
| 6.60 | IC50 | 250 | nM | CHEMBL211864 |
| 6.58 | IC50 | 260 | nM | CHEMBL211117 |
| 6.30 | IC50 | 500 | nM | CHEMBL437303 |
| 6.22 | IC50 | 600 | nM | CHEMBL212149 |
| 6.19 | IC50 | 640 | nM | CHEMBL378290 |
| 6.19 | IC50 | 650 | nM | CHEMBL211772 |
| 6.16 | IC50 | 700 | nM | CHEMBL212012 |
| 6.00 | IC50 | 1000 | nM | CHEMBL211656 |
| 6.00 | IC50 | 1000 | nM | CHEMBL211182 |
| 6.00 | IC50 | 1000 | nM | CHEMBL208649 |
| 5.96 | IC50 | 1100 | nM | CHEMBL212361 |
| 5.92 | IC50 | 1200 | nM | CHEMBL436931 |
| 5.92 | IC50 | 1200 | nM | CHEMBL211547 |
| 5.92 | IC50 | 1200 | nM | CHEMBL209702 |
| 5.85 | IC50 | 1400 | nM | CHEMBL209249 |
| 5.82 | IC50 | 1500 | nM | CHEMBL211116 |
| 5.70 | IC50 | 2000 | nM | CHEMBL380109 |
| 5.62 | IC50 | 2400 | nM | CHEMBL380014 |
| 5.47 | IC50 | 3400 | nM | CHEMBL377744 |
| 5.35 | IC50 | 4500 | nM | CHEMBL209337 |
| 5.30 | IC50 | 5000 | nM | CHEMBL211057 |
| 5.10 | IC50 | 8000 | nM | CHEMBL210290 |
| 5.10 | IC50 | 8000 | nM | CHEMBL439325 |
| 5.02 | IC50 | 9500 | nM | CHEMBL377528 |
PubChem BioAssay actives
28 with measured affinity, of 53 total; 27 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| [(E)-hept-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.0900 | uM |
| (4-ethylcyclohexyl) 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.1500 | uM |
| cyclohex-2-en-1-yl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.1800 | uM |
| cyclopentyl (4S)-6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.2000 | uM |
| cyclopentyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.2500 | uM |
| [(E)-hex-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.2600 | uM |
| cyclohexyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.5000 | uM |
| cyclopentyl (4S)-6-methyl-2-oxo-4-[4-(trifluoromethyl)phenyl]-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.6000 | uM |
| [(E)-pent-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.6400 | uM |
| [(E)-but-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.6500 | uM |
| [(Z)-pent-2-enyl] 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 0.7000 | uM |
| cyclopentyl 4-(4-bromophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.0000 | uM |
| cyclopentyl 4-(4-chlorophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.0000 | uM |
| cyclopentyl 6-methyl-2-oxo-4-[4-(trifluoromethyl)phenyl]-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.0000 | uM |
| cyclopentyl 6-methyl-2-oxo-4-[4-(trifluoromethoxy)phenyl]-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.1000 | uM |
| 2-ethylsulfanylethyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.2000 | uM |
| cycloheptyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.2000 | uM |
| cyclobutyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.2000 | uM |
| cyclopentyl 4-(4-cyanophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.4000 | uM |
| prop-2-enyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 1.5000 | uM |
| pentyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 2.0000 | uM |
| cyclopentyl 6-methyl-4-(4-nitrophenyl)-2-sulfanylidene-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 3.4000 | uM |
| cyclopentyl 6-methyl-4-(4-methylphenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 4.5000 | uM |
| cyclopentyl 4-(4-methoxyphenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 5.0000 | uM |
| cyclopentyl 4-(4-fluorophenyl)-6-methyl-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 8.0000 | uM |
| cyclopentyl 6-methyl-4-(4-methylsulfanylphenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 8.0000 | uM |
| ethyl 6-methyl-4-(4-nitrophenyl)-2-oxo-3,4-dihydro-1H-pyrimidine-5-carboxylate | 267743: Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | ic50 | 9.5000 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 6 |
| sodium arsenite | affects cotreatment, decreases expression, increases expression | 4 |
| bisphenol A | affects expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| Estradiol | affects expression, increases expression | 2 |
| ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate | decreases expression | 1 |
| dicrotophos | increases expression | 1 |
| lead acetate | affects cotreatment, decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| linalool | increases expression, increases reaction | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | affects expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,2’,3’,4,4’,5-hexachlorobiphenyl | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| jinfukang | increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Arbutin | decreases expression | 1 |
| Cisplatin | decreases expression | 1 |
| Ivermectin | decreases 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 |
|---|---|---|---|
| CHEMBL870441 | Binding | Inhibition of human FATP4-mediated 12-BODIPY-lauric acid uptake in HEK293 cells | Identification and characterization of 4-aryl-3,4-dihydropyrimidin-2(1H)-ones as inhibitors of the fatty acid transporter FATP4. — Bioorg Med Chem Lett |
Cellosaurus cell lines
5 cell lines: 4 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3HC | Abcam HEK293T SLC27A4 KO | Transformed cell line | Female |
| CVCL_D4KS | HCT116-SLC27A4-KO-c1 | Cancer cell line | Male |
| CVCL_D4KT | HCT116-SLC27A4-KO-c4 | Cancer cell line | Male |
| CVCL_TM69 | HAP1 SLC27A4 (-) 1 | Cancer cell line | Male |
| CVCL_TM70 | HAP1 SLC27A4 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
6 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00421174 | PHASE3 | COMPLETED | Effectiveness of Etanercept for Idiopathic Pneumonia Syndrome Following Stem Cell Transplantation (BMT CTN 0403) |
| NCT01222000 | PHASE3 | UNKNOWN | Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous |
| NCT03041038 | PHASE2 | COMPLETED | The Efficacy and Safety of Secukinumab in Patients With Ichthyoses |
| NCT03738800 | PHASE2 | TERMINATED | A Safety, Efficacy and Systemic Exposure Study of CD5789 Cream in Adults and Adolescents With Lamellar Ichthyosis |
| NCT00001292 | Not specified | COMPLETED | Study of Scaling Disorders and Other Inherited Skin Diseases |
| NCT05312073 | Not specified | COMPLETED | Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis |
Related Atlas pages
- Associated diseases: ichthyosis prematurity syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive congenital ichthyosis, ichthyosis prematurity syndrome, lamellar ichthyosis