SLC27A5

Summary

SLC27A5 (solute carrier family 27 member 5, HGNC:10999) is a protein-coding gene on chromosome 19q13.43, encoding Long-chain fatty acid transport protein 5 (Q9Y2P5). May mediate the import of long-chain fatty acids (LCFA) by facilitating their transport across cell membranes.

The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog.

Source: NCBI Gene 10998 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 310 total
• Druggable target: yes
• MANE Select transcript: NM_012254

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10999
Approved symbol	SLC27A5
Name	solute carrier family 27 member 5
Location	19q13.43
Locus type	gene with protein product
Status	Approved
Aliases	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB
Ensembl gene	ENSG00000083807
Ensembl biotype	protein_coding
OMIM	603314
Entrez	10998

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 8 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000263093, ENST00000593745, ENST00000594683, ENST00000594786, ENST00000595851, ENST00000599700, ENST00000601355, ENST00000601997, ENST00000864562, ENST00000864563, ENST00000864564, ENST00000864565, ENST00000864566

RefSeq mRNA: 2 — MANE Select: NM_012254 NM_001321196, NM_012254

CCDS: CCDS12983, CCDS82415

Canonical transcript exons

ENST00000263093 — 10 exons

Exon	Start	End
ENSE00000729281	58499123	58499220
ENSE00000729283	58499492	58499690
ENSE00000729285	58500339	58500429
ENSE00000729288	58500512	58500706
ENSE00000729291	58509847	58510005
ENSE00000729293	58510721	58510930
ENSE00000807574	58511268	58511992
ENSE00003214068	58498333	58498691
ENSE00003550404	58501286	58501410
ENSE00003672015	58498785	58498915

Expression profiles

Bgee: expression breadth ubiquitous, 197 present calls, max score 99.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0797 / max 604.0909, expressed in 1584 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
182959	6.8392	1584
182963	1.1580	11
182961	0.0520	8
182962	0.0186	7
182960	0.0119	5

Top tissues by expression

279 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	99.57	gold quality
liver	UBERON:0002107	97.94	gold quality
nucleus accumbens	UBERON:0001882	92.33	gold quality
anterior cingulate cortex	UBERON:0009835	91.86	gold quality
cingulate cortex	UBERON:0003027	91.69	gold quality
amygdala	UBERON:0001876	91.11	gold quality
caudate nucleus	UBERON:0001873	91.02	gold quality
putamen	UBERON:0001874	90.86	gold quality
left testis	UBERON:0004533	90.59	gold quality
right frontal lobe	UBERON:0002810	89.98	gold quality
right testis	UBERON:0004534	89.76	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	89.56	gold quality
prefrontal cortex	UBERON:0000451	89.19	gold quality
tendon of biceps brachii	UBERON:0008188	88.42	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	88.05	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.85	gold quality
spinal cord	UBERON:0002240	87.64	gold quality
testis	UBERON:0000473	87.51	gold quality
neocortex	UBERON:0001950	86.99	gold quality
telencephalon	UBERON:0001893	86.65	gold quality
frontal cortex	UBERON:0001870	86.56	gold quality
hypothalamus	UBERON:0001898	86.49	gold quality
forebrain	UBERON:0001890	86.23	gold quality
cerebral cortex	UBERON:0000956	85.38	gold quality
brain	UBERON:0000955	85.26	gold quality
substantia nigra	UBERON:0002038	85.18	gold quality
Ammon’s horn	UBERON:0001954	84.43	gold quality
midbrain	UBERON:0001891	84.27	gold quality
temporal lobe	UBERON:0001871	84.11	gold quality
adenohypophysis	UBERON:0002196	84.03	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.27
E-MTAB-9689	no	249.16
E-CURD-112	no	2.86

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF4A, SREBF1

miRNA regulators (miRDB)

9 targeting SLC27A5, 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-4682	100.00	68.89	1258
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-377-5P	99.70	65.28	712
HSA-MIR-6086	99.70	65.38	699
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-6819-5P	97.96	66.59	1071
HSA-MIR-6737-5P	97.75	66.54	1044

Literature-anchored findings (GeneRIF, showing 9)

• A promoter polymorphism in the FATP5 is associated with the metabolic syndrome and steatosis. (PMID:20945272)
• Bile acid-CoA ligase deficiency is a new inborn error of bile acid metabolism [case report] (PMID:22089923)
• Based on a study of 10 pediatric patients, genetic defects that disrupt bile acid amidation cause fat-soluble vitamin deficiency and growth failure, indicating the importance of bile acid conjugation in lipid absorption. (PMID:23415802)
• SLC27A5 deficiency activates NRF2/TXNRD1 pathway by increased lipid peroxidation in HCC. (PMID:31367013)
• Hepatic FATP5 expression is associated with histological progression and loss of hepatic fat in NAFLD patients. (PMID:31602526)
• SLC27A5 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by downregulating glutathione reductase. (PMID:36635256)
• Loss of SLC27A5 Activates Hepatic Stellate Cells and Promotes Liver Fibrosis via Unconjugated Cholic Acid. (PMID:37957540)
• Metabolic Enzyme SLC27A5 Regulates PIP4K2A pre-mRNA Splicing as a Noncanonical Mechanism to Suppress Hepatocellular Carcinoma Metastasis. (PMID:38059827)
• Copper metabolism-related risk score identifies hepatocellular carcinoma subtypes and SLC27A5 as a potential regulator of cuproptosis. (PMID:38157255)

Cross-species orthologs

30 orthologs

Organism	Symbol	Gene ID
danio_rerio	zgc:158482	ENSDARG00000067520
danio_rerio	slc27a2b	ENSDARG00000100731
mus_musculus	Slc27a5	ENSMUSG00000030382
rattus_norvegicus	Slc27a5	ENSRNOG00000019626
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	Acsl	FBGN0263120
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		WBGENE00016716
caenorhabditis_elegans		WBGENE00019920
caenorhabditis_elegans		WBGENE00022849

Paralogs (12): ACSL4 (ENSG00000068366), ACSBG1 (ENSG00000103740), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A2 (ENSG00000140284), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114), ACSL5 (ENSG00000197142)

Protein

Protein identifiers

Long-chain fatty acid transport protein 5 — Q9Y2P5 (reviewed: Q9Y2P5)

Alternative names: Bile acid-CoA ligase, Bile acyl-CoA synthetase, Cholate–CoA ligase, Fatty-acid-coenzyme A ligase, very long-chain 3, Long-chain-fatty-acid–CoA ligase, Solute carrier family 27 member 5, Very long-chain acyl-CoA synthetase homolog 2, Very long-chain acyl-CoA synthetase-related protein

All UniProt accessions (2): Q9Y2P5, M0R075

UniProt curated annotations — full annotation on UniProt →

Function. May mediate the import of long-chain fatty acids (LCFA) by facilitating their transport across cell membranes. Also catalyzes the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates. Mainly functions as a bile acyl-CoA synthetase catalyzing the activation of bile acids via ATP-dependent formation of bile acid CoA thioesters which is necessary for their subsequent conjugation with glycine or taurine. Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) are the principal substrates. In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate ((25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate or THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol. Plays an important role in hepatic fatty acid uptake and bile acid reconjugation and recycling but not in de novo synthesis of bile acids.

Subcellular location. Endoplasmic reticulum membrane. Microsome. Cell membrane.

Tissue specificity. Predominantly expressed in liver.

Activity regulation. 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate (THCA) inhibits the activation of cholate.

Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2P5-1	1	yes
Q9Y2P5-2	2

RefSeq proteins (2): NP_001308125, NP_036386* (*=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), 12 shown:

• a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:15421)
• (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate (RHEA:22976)
• cholate + ATP + CoA = choloyl-CoA + AMP + diphosphate (RHEA:23532)
• octadecanoate + ATP + CoA = octadecanoyl-CoA + AMP + diphosphate (RHEA:33615)
• tetracosanoate + ATP + CoA = tetracosanoyl-CoA + AMP + diphosphate (RHEA:33639)
• a fatty acid(in) = a fatty acid(out) (RHEA:38879)
• hexacosanoate + ATP + CoA = hexacosanoyl-CoA + AMP + diphosphate (RHEA:43748)
• chenodeoxycholate + ATP + CoA = chenodeoxycholoyl-CoA + AMP + diphosphate (RHEA:43764)
• eicosanoate + ATP + CoA = eicosanoyl-CoA + AMP + diphosphate (RHEA:46208)
• deoxycholate + ATP + CoA = deoxycholoyl-CoA + AMP + diphosphate (RHEA:47128)
• lithocholate + ATP + CoA = lithocholoyl-CoA + AMP + diphosphate (RHEA:47136)
• a very long-chain fatty acid + ATP + CoA = a very long-chain fatty acyl-CoA + AMP + diphosphate (RHEA:54536)

UniProt features (10 total): topological domain 2, transmembrane region 2, sequence variant 2, chain 1, binding site 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2P5-F1	86.32	0.62

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): 292–303

Post-translational modifications (1): 501

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-159418	Recycling of bile acids and salts
R-HSA-193368	Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
R-HSA-193775	Synthesis of bile acids and bile salts via 24-hydroxycholesterol
R-HSA-1430728	Metabolism
R-HSA-192105	Synthesis of bile acids and bile salts
R-HSA-194068	Bile acid and bile salt metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8957322	Metabolism of steroids

MSigDB gene sets: 180 (showing top): GNF2_GSTM1, GNF2_HPN, ROVERSI_GLIOMA_COPY_NUMBER_UP, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_BILE_ACID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, CAIRO_HEPATOBLASTOMA_CLASSES_DN, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, KEGG_PPAR_SIGNALING_PATHWAY

GO Biological Process (15): very long-chain fatty acid metabolic process (GO:0000038), long-chain fatty acid metabolic process (GO:0001676), triglyceride mobilization (GO:0006642), bile acid biosynthetic process (GO:0006699), bile acid metabolic process (GO:0008206), bile acid and bile salt transport (GO:0015721), long-chain fatty acid import across plasma membrane (GO:0015911), long-chain fatty acid import into cell (GO:0044539), ketone body biosynthetic process (GO:0046951), establishment of localization in cell (GO:0051649), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), lipid transport (GO:0006869), fatty acid transport (GO:0015908), long-chain fatty acid transport (GO:0015909)

GO Molecular Function (11): long-chain fatty acid-CoA ligase activity (GO:0004467), long-chain fatty acid transmembrane transporter activity (GO:0005324), ATP binding (GO:0005524), oxidoreductase activity (GO:0016491), very long-chain fatty acid-CoA ligase activity (GO:0031957), protein-containing complex binding (GO:0044877), cholate-CoA ligase activity (GO:0047747), nucleotide binding (GO:0000166), protein binding (GO:0005515), fatty acid transmembrane transporter activity (GO:0015245), ligase activity (GO:0016874)

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), basal plasma membrane (GO:0009925), protein-containing complex (GO:0032991), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Bile acid and bile salt metabolism	2
Synthesis of bile acids and bile salts	2
Metabolism of steroids	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid metabolic process	2
monocarboxylic acid metabolic process	2
lipid transport	2
monocarboxylic acid transport	2
long-chain fatty acid transport	2
fatty acid transport	2
fatty acid-CoA ligase activity	2
catalytic activity	2
binding	2
triglyceride metabolic process	1
bile acid metabolic process	1
monocarboxylic acid biosynthetic process	1
steroid metabolic process	1
organic hydroxy compound transport	1
long-chain fatty acid import into cell	1
import across plasma membrane	1
fatty acid transmembrane transport	1
import into cell	1
lipid import into cell	1
small molecule biosynthetic process	1
fatty acid derivative biosynthetic process	1
establishment of localization	1
cellular localization	1
primary metabolic process	1
lipid metabolic process	1
transport	1
lipid localization	1
long-chain fatty acid metabolic process	1
fatty acid transmembrane transporter activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
CoA-ligase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
monocarboxylic acid transmembrane transporter activity	1
lipid transmembrane transporter activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1

Protein interactions and networks

STRING

1710 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC27A5	BAAT	Q14032	839
SLC27A5	ACSL1	P33121	749
SLC27A5	AASDH	Q4L235	700
SLC27A5	ABCB11	O95342	680
SLC27A5	CD36	P16671	637
SLC27A5	ACOX2	Q99424	626
SLC27A5	SCARB1	Q8WTV0	606
SLC27A5	SCARB2	Q14108	604
SLC27A5	CYP8B1	Q9UNU6	577
SLC27A5	ZNF584	Q8IVC4	568
SLC27A5	SCP2	P22307	556
SLC27A5	HSD3B7	Q9H2F3	540
SLC27A5	CYP7A1	P22680	529
SLC27A5	AKR1D1	P51857	520
SLC27A5	CYP27A1	Q02318	520
SLC27A5	CPT1A	P50416	520

IntAct

6 interactions, top by confidence:

A	B	Type	Score
MEOX2	SLC27A5	psi-mi:“MI:0915”(physical association)	0.560
UGT2B7	ACTN4	psi-mi:“MI:0914”(association)	0.350
SLC27A5	SEC24B	psi-mi:“MI:0914”(association)	0.350
SLC27A5	MEIOC	psi-mi:“MI:0914”(association)	0.350
SLC27A5	MEOX2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (99): MEOX2 (Two-hybrid), SLC27A5 (Affinity Capture-RNA), NUP35 (Affinity Capture-MS), SEC24B (Affinity Capture-MS), AAAS (Affinity Capture-MS), ABCD3 (Affinity Capture-MS), ABHD15 (Affinity Capture-MS), ACBD5 (Affinity Capture-MS), ADCK2 (Affinity Capture-MS), ADCY3 (Affinity Capture-MS), AMFR (Affinity Capture-MS), ATF6 (Affinity Capture-MS), ATF6B (Affinity Capture-MS), ATG9A (Affinity Capture-MS), ATP13A1 (Affinity Capture-MS)

ESM2 similar proteins: A0A7N9VSG0, A0JNU3, D3ZBP4, D3ZX08, F1MH07, O43542, O55137, O55171, O88202, O88267, P15575, P16444, P22412, P31429, P41226, P43477, Q08DH8, Q0P5I5, Q14CH7, Q2KHY1, Q2V057, Q32Q92, Q3SZM7, Q3UQ84, Q5E9L5, Q5JTZ9, Q5M876, Q5RCH4, Q66KF6, Q68FW7, Q6P3H4, Q6PAY6, Q86U10, Q8K4F6, Q8K4V2, Q8R123, Q8TDZ2, Q8VCZ9, Q8VDG5, Q8VDP3

Diamond homologs: A4TS06, A5JTM6, A6UED8, A6WXV8, A7FNG1, A8G8G7, B2HHZ8, B5ZV36, C3MAS0, E9Q9W4, M4IRL9, O35488, O53551, O95573, P97524, P97849, Q07VK4, Q0S4D7, Q0VSR6, Q1C0N0, Q1CE37, Q21LV0, Q3ZKN0, Q4LDG0, Q5R668, Q60714, Q66FM8, Q6FLU2, Q6PCB7, Q7MGU3, Q7TWC5, Q8D1G8, Q8DCZ9, Q8Z1R0, Q8ZKF6, Q92KX2, Q9CMW1, Q9Y2P5, O05307, O14975

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SLC27A5	“up-regulates quantity”	“Fatty acid”	relocalization

Disease & clinical

Clinical variants and AI predictions

ClinVar

310 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	214
Likely benign	40
Benign	10

Top pathogenic / likely-pathogenic (0)

SpliceAI

2860 predictions. Top by Δscore:

Variant	Effect	Δscore
19:58498692:CTG:C	acceptor_loss	1.0000
19:58498779:GCTCA:G	donor_loss	1.0000
19:58498780:CTCA:C	donor_loss	1.0000
19:58498781:TCACC:T	donor_loss	1.0000
19:58498782:CA:C	donor_loss	1.0000
19:58498783:A:C	donor_loss	1.0000
19:58499394:CGA:C	donor_gain	1.0000
19:58499426:C:CA	donor_gain	1.0000
19:58499534:T:TA	donor_gain	1.0000
19:58499555:T:TA	donor_gain	1.0000
19:58499556:C:A	donor_gain	1.0000
19:58500341:AGC:A	donor_gain	1.0000
19:58479928:AG:A	acceptor_gain	0.9900
19:58479929:GG:G	acceptor_gain	0.9900
19:58498688:CGTC:C	acceptor_gain	0.9900
19:58498690:TC:T	acceptor_gain	0.9900
19:58498691:CC:C	acceptor_gain	0.9900
19:58498692:C:CC	acceptor_gain	0.9900
19:58499217:CCAT:C	acceptor_gain	0.9900
19:58499218:CATC:C	acceptor_gain	0.9900
19:58499356:T:TA	donor_gain	0.9900
19:58499368:T:TA	donor_gain	0.9900
19:58499386:C:CA	donor_gain	0.9900
19:58499393:A:AC	donor_gain	0.9900
19:58499394:C:CC	donor_gain	0.9900
19:58499501:T:TA	donor_gain	0.9900
19:58499502:C:A	donor_gain	0.9900
19:58500341:AG:A	donor_gain	0.9900
19:58500342:G:C	donor_gain	0.9900
19:58500510:A:AC	donor_gain	0.9900

AlphaMissense

4388 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:58499494:G:C	F555L	0.977
19:58499494:G:T	F555L	0.977
19:58499496:A:G	F555L	0.977
19:58500620:G:C	F423L	0.969
19:58500620:G:T	F423L	0.969
19:58500622:A:G	F423L	0.969
19:58511349:A:G	W203R	0.967
19:58511349:A:T	W203R	0.967
19:58498792:C:G	R630P	0.963
19:58498798:A:G	F628S	0.962
19:58511368:C:A	K196N	0.961
19:58511368:C:G	K196N	0.961
19:58500560:G:C	N443K	0.960
19:58500560:G:T	N443K	0.960
19:58509995:C:A	K303N	0.960
19:58509995:C:G	K303N	0.960
19:58501382:G:C	F362L	0.959
19:58501382:G:T	F362L	0.959
19:58501384:A:G	F362L	0.959
19:58500681:A:T	V403D	0.952
19:58499527:G:C	F544L	0.951
19:58499527:G:T	F544L	0.951
19:58499529:A:G	F544L	0.951
19:58499518:G:C	F547L	0.950
19:58499518:G:T	F547L	0.950
19:58499520:A:G	F547L	0.950
19:58499510:C:G	R550P	0.945
19:58499644:G:C	F505L	0.943
19:58499644:G:T	F505L	0.943
19:58499646:A:G	F505L	0.943

dbSNP variants (sampled 300 via entrez): RS1000091034 (19:58513695 C>G), RS1000364797 (19:58510434 C>G), RS1000441607 (19:58513878 G>A,T), RS1000779998 (19:58503428 G>C,T), RS1000862775 (19:58506254 G>A), RS1000865703 (19:58510164 A>G), RS1000976806 (19:58506461 C>A,T), RS1001042021 (19:58500834 T>C), RS1001557919 (19:58501206 A>G,T), RS1002132699 (19:58505924 G>A,T), RS1002174334 (19:58506947 T>G), RS1002301103 (19:58511092 G>A), RS1002383616 (19:58500038 A>G), RS1002734423 (19:58512832 C>T), RS1002841009 (19:58512092 C>A)

Disease associations

OMIM: gene MIM:603314 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myoepithelial tumor (MONDO:0002380)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006979_688	Heel bone mineral density	2.000000e-09
GCST012488_38	L1-L4 bone mineral density x serum urate levels interaction	1.000000e-06
GCST90002396_48	Mean reticulocyte volume	2.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004531	urate measurement
EFO:0007701	spine bone mineral density
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5196 (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

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
Benzo(a)pyrene	decreases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
dicrotophos	decreases expression	1
lasiocarpine	decreases expression	1
methyleugenol	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	increases expression	1
2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	affects cotreatment, decreases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
obeticholic acid	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Olanzapine	increases expression	1
Acetaminophen	decreases expression	1
Berberine	decreases expression	1
Chenodeoxycholic Acid	decreases reaction, increases uptake	1
Choline	affects cotreatment, decreases expression, decreases reaction	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Deoxycholic Acid	decreases reaction, increases uptake	1
Ethyl Methanesulfonate	decreases expression	1
Fatty Acids	decreases reaction, increases uptake	1
Formaldehyde	decreases expression	1
Methionine	affects cotreatment, decreases expression, decreases reaction	1
Methyl Methanesulfonate	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
CHEMBL870442	Binding	Inhibition of mouse FATP5-mediated 12-BODIPY-lauric acid uptake	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

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4KU	HCT116-SLC27A5-KO-c12	Cancer cell line	Male
CVCL_D4KV	HCT116-SLC27A5-KO-c9	Cancer cell line	Male
CVCL_TM71	HAP1 SLC27A5 (-) 1	Cancer cell line	Male
CVCL_XT10	HAP1 SLC27A5 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

5 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis