ACSL5
gene geneOn this page
Also known as ACS5ACS2
Summary
ACSL5 (acyl-CoA synthetase long chain family member 5, HGNC:16526) is a protein-coding gene on chromosome 10q25.2, encoding Long-chain-fatty-acid–CoA ligase 5 (Q9ULC5). Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation.
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene.
Source: NCBI Gene 51703 — RefSeq curated summary.
At a glance
- Gene–disease (curated): diarrhea 13 (Limited, GenCC)
- GWAS associations: 9
- Clinical variants (ClinVar): 121 total — 2 pathogenic
- GTEx eGene: eQTL in 18 tissues, sQTL in 12 (q < 0.05)
- Phenotypes (HPO): 9
- ChEMBL bioactivity: 3 clinical-phase molecules tested; no curated mechanism-of-action drug
- Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 0.70 (unconstrained)
- MANE Select transcript:
NM_203379 - Interaction hub: 1,752 STRING partners (top 10% of genes corpus-wide)
- Notable: 121 clinical variants but no curated precision-oncology (CIViC) evidence yet
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16526 |
| Approved symbol | ACSL5 |
| Name | acyl-CoA synthetase long chain family member 5 |
| Location | 10q25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ACS5, ACS2 |
| Ensembl gene | ENSG00000197142 |
| Ensembl biotype | protein_coding |
| OMIM | 605677 |
| Entrez | 51703 |
Gene structure
Transcript identifiers
Ensembl transcripts: 46 — 36 protein_coding, 8 nonsense_mediated_decay, 2 retained_intron
MANE Select: ENST00000354655
Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 3, TSL 3: 1, TSL 5: 2
ENST00000354655, ENST00000354273, ENST00000356116, ENST00000393081, ENST00000433418, ENST00000467340, ENST00000495539, ENST00000496328, ENST00000861349, ENST00000861350, ENST00000861351, ENST00000861352, ENST00000861353, ENST00000861354, ENST00000861355, ENST00000861356, ENST00000861357, ENST00000861358, ENST00000861359, ENST00000861360, ENST00000861361, ENST00000861362, ENST00000861363, ENST00000861364, ENST00000861365, ENST00000861366, ENST00000861367, ENST00000861368, ENST00000861369, ENST00000954829, ENST00000954830, ENST00000954831, ENST00000954832, ENST00000954833, ENST00000954834, ENST00000954835, ENST00000954836, ENST00000954837, ENST00000993474, ENST00000993475, ENST00000993477, ENST00001043417, ENST00001043419, ENST00001043420, ENST00001043421, ENST00001138580
RefSeq mRNA: 4 — MANE Select: NM_203379
NM_001387037, NM_016234, NM_203379, NM_203380
CCDS: CCDS7572, CCDS7573, CCDS91344
Canonical transcript exons
ENST00000354655 — 21 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000724257 | 112409507 | 112409685 |
| ENSE00001000193 | 112411456 | 112411529 |
| ENSE00001096563 | 112426258 | 112426359 |
| ENSE00001096573 | 112421593 | 112421665 |
| ENSE00001096575 | 112421947 | 112422035 |
| ENSE00001096579 | 112426788 | 112426859 |
| ENSE00001411902 | 112374116 | 112374269 |
| ENSE00001835863 | 112427218 | 112428376 |
| ENSE00003470738 | 112422325 | 112422441 |
| ENSE00003482344 | 112416888 | 112417022 |
| ENSE00003484218 | 112410463 | 112410495 |
| ENSE00003492611 | 112394918 | 112395102 |
| ENSE00003541113 | 112413173 | 112413307 |
| ENSE00003572499 | 112425338 | 112425481 |
| ENSE00003589092 | 112408422 | 112408521 |
| ENSE00003619593 | 112411902 | 112411979 |
| ENSE00003623182 | 112410584 | 112410635 |
| ENSE00003638097 | 112398901 | 112399009 |
| ENSE00003652803 | 112404511 | 112404575 |
| ENSE00003661740 | 112417846 | 112417941 |
| ENSE00003671255 | 112404705 | 112404806 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 99.90.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4060 / max 2111.1540, expressed in 1151 samples.
Highest expression (Bgee): jejunal mucosa, ileal mucosa, corpus epididymis, rectum, mucosa of transverse colon.
Genetic regulation across tissues (GTEx eQTL / sQTL)
ACSL5 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 18 tissues and its splicing (sQTL) in 12 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.
showing 20 of 30 significant tissue × QTL associations:
| Tissue | QTL | q-value | Slope | Lead variant |
|---|---|---|---|---|
| Adipose Visceral Omentum | sqtl | 1.8e-151 | -2.04 | 10:112426866:G:A |
| Cells EBV-transformed lymphocytes | sqtl | 3.1e-114 | -2.48 | 10:112426866:G:A |
| Whole Blood | eqtl | 2.4e-112 | -0.45 | 10:112384081:G:T |
| Colon Transverse | sqtl | 4.1e-107 | +2.16 | 10:112439529:G:A |
| Liver | sqtl | 1.4e-92 | -2.31 | 10:112426866:G:A |
| Small Intestine Terminal Ileum | sqtl | 3.6e-43 | -2.52 | 10:112426866:G:A |
| Lung | sqtl | 6.8e-10 | +0.89 | 10:112426866:G:A |
| Testis | eqtl | 1.8e-09 | -0.30 | 10:112413796:G:A |
| Brain Cerebellum | eqtl | 5.1e-08 | +0.30 | 10:112381487:T:G |
| Whole Blood | sqtl | 6.6e-06 | +0.67 | 10:112426866:G:A |
| Cells Cultured fibroblasts | eqtl | 7.9e-06 | +0.17 | 10:112375255:C:T |
| Brain Cerebellar Hemisphere | eqtl | 1.9e-05 | +0.24 | 10:112406990:C:T |
| Nerve Tibial | eqtl | 4.0e-05 | +0.14 | 10:112381487:T:G |
| Esophagus Mucosa | eqtl | 6.3e-05 | -0.19 | 10:112325616:C:A |
| Pancreas | eqtl | 6.4e-05 | +0.24 | 10:112348992:T:G |
| Adrenal Gland | eqtl | 7.6e-05 | +0.33 | 10:112350219:A:G |
| Brain Putamen basal ganglia | eqtl | 3.8e-04 | +0.18 | 10:112373303:G:C |
| Stomach | eqtl | 4.4e-04 | +0.12 | 10:112335173:A:G |
| Brain Hippocampus | eqtl | 4.5e-04 | +0.18 | 10:112364188:C:G |
| Breast Mammary Tissue | sqtl | 4.6e-04 | +0.72 | 10:112393875:A:G |
FANTOM5 promoters
showing 10 of 28 alternative TSS:
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107050 | 15.4339 | 1057 |
| 107037 | 1.8070 | 79 |
| 107051 | 1.5061 | 328 |
| 107036 | 1.0733 | 53 |
| 107041 | 1.0643 | 273 |
| 107042 | 0.8578 | 220 |
| 107052 | 0.2445 | 44 |
| 107060 | 0.2000 | 41 |
| 107040 | 0.1686 | 65 |
| 107043 | 0.1630 | 61 |
Top tissues by expression
showing 100 of 281 tissues by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 99.90 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.27 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.12 | gold quality |
| rectum | UBERON:0001052 | 98.47 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.18 | gold quality |
| colonic mucosa | UBERON:0000317 | 97.97 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.73 | gold quality |
| duodenum | UBERON:0002114 | 97.37 | gold quality |
| right lobe of liver | UBERON:0001114 | 96.43 | gold quality |
| endometrium | UBERON:0001295 | 96.17 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.08 | gold quality |
| small intestine | UBERON:0002108 | 95.40 | gold quality |
| right uterine tube | UBERON:0001302 | 94.83 | gold quality |
| liver | UBERON:0002107 | 94.60 | gold quality |
| granulocyte | CL:0000094 | 94.46 | gold quality |
| transverse colon | UBERON:0001157 | 94.27 | gold quality |
| caput epididymis | UBERON:0004358 | 94.14 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 93.38 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.28 | gold quality |
| vermiform appendix | UBERON:0001154 | 93.04 | gold quality |
| gall bladder | UBERON:0002110 | 92.54 | gold quality |
| monocyte | CL:0000576 | 92.30 | gold quality |
| leukocyte | CL:0000738 | 92.25 | gold quality |
| mononuclear cell | CL:0000842 | 92.13 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.90 | gold quality |
| intestine | UBERON:0000160 | 91.46 | gold quality |
| caecum | UBERON:0001153 | 91.41 | gold quality |
| right lung | UBERON:0002167 | 91.21 | gold quality |
| lower lobe of lung | UBERON:0008949 | 91.12 | gold quality |
| omental fat pad | UBERON:0010414 | 91.03 | gold quality |
| peritoneum | UBERON:0002358 | 91.02 | gold quality |
| spleen | UBERON:0002106 | 90.49 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 90.49 | gold quality |
| cauda epididymis | UBERON:0004360 | 90.43 | gold quality |
| urinary bladder | UBERON:0001255 | 90.36 | gold quality |
| large intestine | UBERON:0000059 | 90.20 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 90.11 | gold quality |
| lung | UBERON:0002048 | 90.10 | gold quality |
| lymph node | UBERON:0000029 | 89.85 | gold quality |
| colon | UBERON:0001155 | 89.84 | gold quality |
| blood | UBERON:0000178 | 88.67 | gold quality |
| visceral pleura | UBERON:0002401 | 88.44 | gold quality |
| body of stomach | UBERON:0001161 | 88.36 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 88.36 | gold quality |
| fallopian tube | UBERON:0003889 | 88.14 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 87.90 | gold quality |
| adipose tissue | UBERON:0001013 | 87.44 | gold quality |
| uterus | UBERON:0000995 | 87.38 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 87.20 | gold quality |
| jejunum | UBERON:0002115 | 87.11 | gold quality |
| stomach | UBERON:0000945 | 86.77 | gold quality |
| connective tissue | UBERON:0002384 | 86.59 | gold quality |
| oviduct epithelium | UBERON:0004804 | 86.48 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 86.41 | gold quality |
| pleura | UBERON:0000977 | 86.39 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 86.30 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 86.24 | gold quality |
| parietal pleura | UBERON:0002400 | 85.68 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 85.56 | gold quality |
| bone marrow | UBERON:0002371 | 85.37 | gold quality |
| sperm | CL:0000019 | 85.22 | gold quality |
| bone marrow cell | CL:0002092 | 84.76 | gold quality |
| left uterine tube | UBERON:0001303 | 84.41 | gold quality |
| left ovary | UBERON:0002119 | 84.09 | gold quality |
| female reproductive system | UBERON:0000474 | 84.01 | gold quality |
| seminal vesicle | UBERON:0000998 | 83.59 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.49 | gold quality |
| pancreatic ductal cell | CL:0002079 | 83.32 | silver quality |
| mucosa of stomach | UBERON:0001199 | 83.21 | gold quality |
| male germ cell | CL:0000015 | 83.15 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.13 | gold quality |
| endothelial cell | CL:0000115 | 83.09 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 83.03 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 83.02 | gold quality |
| prostate gland | UBERON:0002367 | 83.00 | gold quality |
| endocervix | UBERON:0000458 | 82.86 | gold quality |
| right ovary | UBERON:0002118 | 82.82 | gold quality |
| body of uterus | UBERON:0009853 | 82.62 | gold quality |
| superficial temporal artery | UBERON:0001614 | 82.54 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 82.41 | gold quality |
| left testis | UBERON:0004533 | 82.30 | gold quality |
| bronchial epithelial cell | CL:0002328 | 82.10 | gold quality |
| fundus of stomach | UBERON:0001160 | 82.01 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.85 | gold quality |
| apex of heart | UBERON:0002098 | 81.80 | gold quality |
| vagina | UBERON:0000996 | 81.72 | gold quality |
| metanephros cortex | UBERON:0010533 | 81.53 | gold quality |
| ovary | UBERON:0000992 | 81.48 | gold quality |
| right testis | UBERON:0004534 | 81.32 | gold quality |
| testis | UBERON:0000473 | 81.29 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.25 | silver quality |
| spinal cord | UBERON:0002240 | 81.21 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 81.13 | gold quality |
| tonsil | UBERON:0002372 | 81.08 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 81.05 | gold quality |
| mammary gland | UBERON:0001911 | 81.01 | gold quality |
| left coronary artery | UBERON:0001626 | 80.98 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 80.93 | gold quality |
| heart left ventricle | UBERON:0002084 | 80.89 | gold quality |
| right atrium auricular region | UBERON:0006631 | 80.86 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 51.69 |
| E-ANND-3 | yes | 18.62 |
| E-MTAB-6142 | no | 121.28 |
HPA expression
RNA tissue specificity: Tissue enhanced
showing 60 of 77 HPA tissues / cells by nTPM:
| Tissue / cell | Axis | nTPM | Protein (IHC) |
|---|---|---|---|
| Small intestine | tissue | 405.8 | high |
| Duodenum | tissue | 347.8 | high |
| Epididymis | tissue | 211.6 | high |
| Liver | tissue | 159.5 | high |
| Rectum | tissue | 111.9 | high |
| Colon | tissue | 107.2 | high |
| Urinary bladder | tissue | 71.8 | medium |
| Cervix | tissue | 48.9 | low |
| Fallopian tube | tissue | 42.6 | high |
| Stomach 1 | tissue | 42.1 | low |
| Frontal cortex | tissue | 40.5 | |
| Lung | tissue | 34.0 | high |
| Endometrium 1 | tissue | 28.7 | high |
| Appendix | tissue | 28.1 | medium |
| Lymph node | tissue | 26.8 | not detected |
| Tonsil | tissue | 26.8 | not detected |
| Spleen | tissue | 24.6 | not detected |
| Breast | tissue | 20.3 | not detected |
| Gallbladder | tissue | 20.3 | medium |
| Seminal vesicle | tissue | 19.2 | low |
| Adipose tissue | tissue | 17.9 | not detected |
| Caudate putamen | tissue | 17.7 | |
| Bone marrow | tissue | 15.7 | not detected |
| Thymus | tissue | 15.4 | |
| Smooth muscle | tissue | 14.6 | not detected |
| Ovary | tissue | 12.6 | not detected |
| Prostate | tissue | 11.6 | not detected |
| Spinal cord | tissue | 10.8 | |
| Testis | tissue | 9.2 | low |
| Substantia nigra | tissue | 9.1 | |
| Superior colliculi | tissue | 9.0 | |
| Tongue | tissue | 8.3 | |
| Placenta | tissue | 8.1 | not detected |
| Esophagus | tissue | 7.5 | not detected |
| Locus coeruleus | tissue | 7.5 | |
| Medulla oblongata | tissue | 7.4 | |
| Pons | tissue | 7.3 | |
| Hippocampus | tissue | 7.3 | not detected |
| Vagina | tissue | 7.2 | not detected |
| Postcentral gyrus | tissue | 7.1 | |
| Midbrain | tissue | 6.9 | |
| Thalamus | tissue | 6.9 | |
| Hypothalamus | tissue | 6.8 | |
| Kidney | tissue | 6.8 | medium |
| Heart muscle | tissue | 6.7 | not detected |
| Periaqueductal gray | tissue | 6.7 | |
| Corpus callosum | tissue | 6.5 | |
| Septum | tissue | 6.3 | |
| Putamen | tissue | 6.0 | |
| Nucleus accumbens | tissue | 5.6 | |
| Cerebral cortex | tissue | 5.5 | not detected |
| Insular cortex | tissue | 5.5 | |
| Salivary gland | tissue | 5.3 | not detected |
| Pancreas | tissue | 5.3 | low |
| Ventral forebrain | tissue | 5.1 | |
| Amygdala | tissue | 4.9 | |
| Hippocampal formation | tissue | 4.9 | |
| Entorhinal cortex | tissue | 4.9 | |
| Temporal cortex | tissue | 4.9 | |
| Basal ganglia | tissue | 4.8 | low |
Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — Posterior thalamic nucleus (15.1), Dorsal cochlear nucleus (13.9), Area parastriata, superior (12.3), Nucleus cuneatus (12.3), Cervical spinal cord, ventral horn (11.9).
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ERF, FOXO1, MYOD1, SREBF1, TCF12
miRNA regulators (miRDB)
Targeting ACSL5 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).
showing 30 of 52 miRNAs:
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| 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-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-12124 | 99.68 | 69.17 | 2700 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-548U | 99.65 | 67.78 | 1463 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-766-5P | 99.47 | 67.91 | 2225 |
| HSA-MIR-5697 | 99.39 | 67.74 | 1249 |
| HSA-MIR-4460 | 99.37 | 68.52 | 615 |
| HSA-MIR-135A-5P | 99.36 | 71.85 | 1601 |
| HSA-MIR-135B-5P | 99.36 | 71.63 | 1613 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
Functional genomics
gnomAD constraint: pLI 1.45e-07, LOEUF 0.702, missense Z 1.25 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD
Regional missense constraint (gnomAD RMC): no regional variation along ENST00000354655 — one region, missense o/e 0.93.
Literature-anchored findings (GeneRIF, showing 35)
- expression of ACS5 in the gastric body and the small intestine with metaplasia or heterotopia (PMID:15736044)
- ACS5 is a very suitable marker molecule for the detection of villus atrophy in the small intestine. (PMID:15809837)
- SREBP-1c-mediated insulin regulation of acyl-CoA synthestase 5 expression indicate that ACS-5 is involved in the anabolic fate of fatty acids. (PMID:16198472)
- Existence of a link between ACSL5 genotype and diet responsiveness. (PMID:17495181)
- Suggest an ACSL5-dependent regulatory mechanism that contributes to the cellular renewal along the crypt-villus axis in human small intestine. (PMID:17681178)
- Oncostatin M directly lowers the plasma triglycerides in hyperlipidemia by stimulating the transcription of ACSL3/5 in the liver. (PMID:17761945)
- Expression of ACSL5 in human epidermis is reported. (PMID:18228202)
- These results indicate that ACSL5 is a critical factor for survival of glioma cells under acidic tumor microenvironment. (PMID:18806831)
- These results reveal a mechanism for elevated transcription of ACSL5 in skeletal muscle of carriers of the rs2419621(T) allele, associated with more rapid diet-induced weight loss. (PMID:19218499)
- Increased ACSL5 is associated with Fatty Liver. (PMID:20470896)
- High ACSL5 transcript levels associate with systemic lupus erythematosus and apoptosis in Jurkat T lymphocytes and peripheral blood cells (PMID:22163040)
- The data strongly indicate that human but not rat acyl-CoA synthetase 5 is sensitive to triacsin C and does not compensate for other triacsin C-sensitive ACSL isoforms. (PMID:22171129)
- Levels of acyl-coenzyme A synthetase 5 in urothelial cells and corresponding neoplasias reflect cellular differentiation. (PMID:23348389)
- Down-regulation of ACSL5 is associated with colorectal cancer. (PMID:24222123)
- Uncoupling of ACSL5 and mitochondrial mortalin by mutated TP53 could be important in colorectal carcinogenesis. (PMID:24770931)
- ACSL5 mediates antiproliferative activities via Wnt2B palmitoylation with diminished Wnt activity. The molecular pathway is probably relevant for intestinal homeostasis, overwhelmed by other pathways in carcinogenesis. (PMID:25356045)
- Functional variant (rs2256368:A>G) affecting ACSL5 exon 20 skipping was identified as a causal factor linked to the migraine-associated rs12355831:A>G, suggesting that the activation of long-chain fatty acids by the spliced ACSL5-Delta20 molecules is involved in migraine pathology. (PMID:27189022)
- colorectal adenocarcinomas with low (n=41; group 1) or high (n=31; group 2) ACSL5 levels were identified. In a one-year follow-up, tumour recurrence was significantly increased in group 1. (PMID:28153554)
- These results suggest that ACSL1, ACSL4 and ACSL5 expression is regulated by ER signaling pathways and ACSL5 is a potential novel biomarker for predicting prognosis of breast cancer patients. (PMID:28498416)
- our study has demonstrated that ACS5 expression was increased in colorectal cancer (CRC) cells and CRC tissues and its upregulation closely correlated to poor tumor differentiation and excess muscular layer in patients with CRC (PMID:28808653)
- rs2419621 T allele carriers are more responsive to lifestyle interventions partly due to an increase in the short ACSL5 protein isoform, increasing cellular, tissue and whole-body fatty acid utilization. (PMID:29605434)
- downregulation of ACSL5 and Wnt2B could play an important role in the development of bronchial-alveolar structures in congenital pulmonary airway malformations (CPAMs). (PMID:30463708)
- Our findings reveal that LOX and ACSL5 are potential prognostic markers for the prognosis of pancreatic cancer patients. (PMID:30712446)
- Our findings indicate that the variant rs2256368:A>G can predict a growth inhibitory activity, caused by the Spl isoform of ACSL5 protein, opposed to the activity of the NSpl. Deep understanding of its functioning might have application in metabolic diseases and cancer. (PMID:31053784)
- miR-497-5p mediates starvation-induced death in colon cancer cells by targeting acyl-CoA synthetase-5 and modulation of lipid metabolism. (PMID:32012265)
- ONECUT2 upregulation is associated with CpG hypomethylation at promoter-proximal DNA in gastric cancer and triggers ACSL5. (PMID:32129880)
- Roles of acyl-CoA synthetase long-chain family member 5 and colony stimulating factor 2 in inhibition of palmitic or stearic acids in lung cancer cell proliferation and metabolism. (PMID:32347412)
- ACYL-CoA synthetase long-chain 5 polymorphism is associated with weight loss and metabolic changes in response to a partial meal-replacement hypocaloric diet.", trans “El polimorfismo de la ACYL-CoA-sintetasa de cadena larga 5 se asocia a perdida de peso y cambios metabolicos en respuesta a una dieta hipocalorica parcial de reemplazo. (PMID:32686444)
- A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis. (PMID:32968195)
- Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset. (PMID:33191500)
- The gene variant rs2419621 of ACYL-CoA synthetase long-chain 5 gene is associated with weight loss and metabolic changes in response to a robotic sleeve gastrectomy in morbid obese subjects. (PMID:34859867)
- Lysophosphatidylcholine inhibits lung cancer cell proliferation by regulating fatty acid metabolism enzyme long-chain acyl-coenzyme A synthase 5. (PMID:36639836)
- More than just a histone deacetylase: cytoplasmic SIRT6 facilitates fatty acid oxidation through ACSL5 deacetylation. (PMID:36880305)
- Hypoxia-responsive PPARGC1A/BAMBI/ACSL5 axis promotes progression and resistance to lenvatinib in hepatocellular carcinoma. (PMID:36932115)
- ACSL5, a prognostic factor in acute myeloid leukemia, modulates the activity of Wnt/beta-catenin signaling by palmitoylation modification. (PMID:37131085)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | acsl5 | ENSDARG00000075931 |
| mus_musculus | Acsl5 | ENSMUSG00000024981 |
| rattus_norvegicus | Acsl5 | ENSRNOG00000016265 |
| drosophila_melanogaster | CG3961 | FBGN0036821 |
| caenorhabditis_elegans | acs-13 | WBGENE00022037 |
Paralogs (12): ACSL4 (ENSG00000068366), SLC27A5 (ENSG00000083807), ACSBG1 (ENSG00000103740), SLC27A6 (ENSG00000113396), ACSL3 (ENSG00000123983), SLC27A1 (ENSG00000130304), ACSBG2 (ENSG00000130377), SLC27A2 (ENSG00000140284), SLC27A3 (ENSG00000143554), ACSL1 (ENSG00000151726), ACSL6 (ENSG00000164398), SLC27A4 (ENSG00000167114)
Mouse-model phenotypes
Observed phenotypes of the mouse ortholog (MGI:1919129) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 17 distinct phenotype terms.
| Mouse phenotype (MP) | Records |
|---|---|
| decreased bone mineral density | 1 |
| decreased circulating HDL cholesterol level | 1 |
| abnormal lens morphology | 1 |
| cornea opacity | 1 |
| decreased circulating triglyceride level | 1 |
| increased heart weight | 1 |
| thrombocytopenia | 1 |
| decreased liver weight | 1 |
| increased spleen weight | 1 |
| decreased circulating cholesterol level | 1 |
| increased circulating bilirubin level | 1 |
| decreased circulating glucose level | 1 |
| decreased circulating total protein level | 1 |
| abnormal enzyme/coenzyme activity | 1 |
| eye hemorrhage | 1 |
| decreased bone mineral content | 1 |
| shortened QRS complex duration | 1 |
Additional cross-species homologs
Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.
| Organism | UniProt | Identity | Method |
|---|---|---|---|
| Aspergillus fumigatus A1163 | B0XWK8 | 99.9% | Diamond |
| Aspergillus fumigatus Af293 | Q4WYG2 | 99.9% | Diamond |
| Pongo abelii | Q5R668 | 99.7% | Diamond |
| Arabidopsis thaliana | Q9SS00 | 91.0% | Diamond |
| Cavia porcellus | Q9JID6 | 88.7% | Diamond |
| Penicillium brevicompactum | P9WEY3 | 88.0% | Diamond |
| Penicillium roqueforti FM164 | W6R1D9 | 88.0% | Diamond |
| Coprinopsis cinerea okayama7#130 | A8NS27 | 78.1% | Diamond |
| Bacillus subtilis subsp. subtilis str. 168 | P23971 | 76.7% | Diamond |
| Humulus lupulus | M4ISH1 | 67.4% | Diamond |
| Saccharomyces cerevisiae S288C | P30624 | 61.1% | Diamond |
| Segniliparus rugosus ATCC BAA-974 | E5XP76 | 58.9% | Diamond |
| Pseudomonas entomophila L48 | Q1IAK8 | 56.6% | Diamond |
| Alternaria alternata | C5NN18 | 47.5% | Diamond |
| Dictyostelium discoideum | Q55DR6 | 45.8% | Diamond |
| Schizosaccharomyces pombe 972h- | O60135 | 43.3% | Diamond |
| Streptomyces niveus | Q9L9F6 | 35.5% | Diamond |
Genomic neighbors (locus context)
Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).
| Symbol | Type | Entrez |
|---|---|---|
| LINC02935 | ncRNA | 107984158 |
| VTI1A | protein-coding | 143187 |
| ZDHHC6 | protein-coding | 64429 |
| MIR6715A | ncRNA | 102466189 |
| GPAM | protein-coding | 57678 |
| TECTB | protein-coding | 6975 |
| MIR6715B | ncRNA | 102465427 |
| MIR4295 | ncRNA | 100422909 |
| TCF7L2 | protein-coding | 6934 |
Protein
Protein identifiers
Long-chain-fatty-acid–CoA ligase 5 — Q9ULC5 (reviewed: Q9ULC5)
Alternative names: Arachidonate–CoA ligase, Long-chain acyl-CoA synthetase 5
All UniProt accessions (4): A0A804HIN9, A0A8C8KCK5, A0A8C8L3F5, Q9ULC5
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoAs for both synthesis of cellular lipids, and degradation via beta-oxidation. ACSL5 may activate fatty acids from exogenous sources for the synthesis of triacylglycerol destined for intracellular storage. Utilizes a wide range of saturated fatty acids with a preference for C16-C18 unsaturated fatty acids. It was suggested that it may also stimulate fatty acid oxidation. At the villus tip of the crypt-villus axis of the small intestine may sensitize epithelial cells to apoptosis specifically triggered by the death ligand TRAIL. May have a role in the survival of glioma cells.
Subcellular location. Mitochondrion. Endoplasmic reticulum. Mitochondrion outer membrane. Endoplasmic reticulum membrane. Cell membrane.
Disease relevance. Diarrhea 13 (DIAR13) [MIM:620357] An autosomal recessive disorder characterized by neonatal onset of recurrent vomiting and diarrhea, leading to severe failure to thrive. The disease may be caused by variants affecting the gene represented in this entry.
Miscellaneous. Localize in mitochondrion and endoplasmic reticulum. Localize in mitochondrion and endoplasmic reticulum.
Similarity. Belongs to the ATP-dependent AMP-binding enzyme family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULC5-1 | 1, ACSL5b, ACSL5-fl | yes |
| Q9ULC5-3 | 2, ACSL5a | |
| Q9ULC5-4 | 3, ACSL5delta20 |
RefSeq proteins (4): NP_001373966, NP_057318, NP_976313, NP_976314 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000873 | AMP-dep_synth/lig_dom | Domain |
| IPR020845 | AMP-binding_CS | Conserved_site |
| IPR042099 | ANL_N_sf | Homologous_superfamily |
| IPR045311 | LC-FACS_euk | Family |
Pfam: PF00501
Catalyzed reactions (Rhea)
- 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)
- (E)-hexadec-2-enoate + ATP + CoA = (2E)-hexadecenoyl-CoA + AMP + diphosphate (RHEA:36139)
- 11,12-epoxy-(5Z,8Z,14Z)-eicosatrienoate + ATP + CoA = 11,12-epoxy-(5Z,8Z,14Z)-eicosatrienoyl-CoA + AMP + diphosphate (RHEA:52012)
- 14,15-epoxy-(5Z,8Z,11Z)-eicosatrienoate + ATP + CoA = 14,15-epoxy-(5Z,8Z,11Z)-eicosatrienoyl-CoA + AMP + diphosphate (RHEA:52016)
- 5-hydroxy-(6E,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = 5-hydroxy-(6E,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:52108)
- 12-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate + ATP + CoA = 12-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:52112)
- 15-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + ATP + CoA = 15-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-CoA + AMP + diphosphate (RHEA:52116)
UniProt features (12 total): sequence variant 5, modified residue 2, splice variant 2, chain 1, transmembrane region 1, topological domain 1
Structure
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULC5-F1 | 90.55 | 0.69 |
Human Protein Atlas
Protein class: Enzymes, ENZYME proteins, Ligase, Metabolic proteins, Predicted membrane proteins, Plasma proteins
Protein evidence: Evidence at protein level
Subcellular location (HPA, imaging): mitochondria; nucleoplasm
Antibody reliability (HPA): IH enhanced · IF supported
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (2)
| Type | Positions |
|---|---|
| Phosphoserine | 32 |
| N6-acetyllysine | 361 |
Function
Pathways and Gene Ontology
Reactome pathways
1 curated (TAS) of 5; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).
5 pathways:
| ID | Pathway | Evidence |
|---|---|---|
| R-HSA-75876 | Synthesis of very long-chain fatty acyl-CoAs | curated |
| R-HSA-8978868 | Fatty acid metabolism | — |
| R-HSA-75105 | Fatty acyl-CoA biosynthesis | — |
| R-HSA-1430728 | Metabolism | — |
| R-HSA-556833 | Metabolism of lipids | — |
MSigDB gene sets: 323 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, KEGG_ADIPOCYTOKINE_SIGNALING_PATHWAY, GOBP_REGULATION_OF_ORGANIC_ACID_TRANSPORT, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_LIPID_TRANSPORT, CEBPB_01
GO Biological Process (6): long-chain fatty acid metabolic process (GO:0001676), positive regulation of long-chain fatty acid import across plasma membrane (GO:0010747), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), regulation of extrinsic apoptotic signaling pathway (GO:2001236), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)
GO Molecular Function (7): long-chain fatty acid-CoA ligase activity (GO:0004467), ATP binding (GO:0005524), arachidonate-CoA ligase activity (GO:0047676), oleoyl-CoA ligase activity (GO:0090434), nucleotide binding (GO:0000166), protein binding (GO:0005515), ligase activity (GO:0016874)
GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
4 top-level categories:
| Category | Pathways |
|---|---|
| Fatty acyl-CoA biosynthesis | 1 |
| Metabolism | 1 |
| Fatty acid metabolism | 1 |
| Metabolism of lipids | 1 |
GO top-level categories
33 GO namespaces:
| Category | Terms |
|---|---|
| long-chain fatty acid-CoA ligase activity | 2 |
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| fatty acid metabolic process | 1 |
| regulation of long-chain fatty acid import across plasma membrane | 1 |
| long-chain fatty acid import across plasma membrane | 1 |
| positive regulation of transmembrane transport | 1 |
| positive regulation of long-chain fatty acid import into cell | 1 |
| long-chain fatty-acyl-CoA metabolic process | 1 |
| fatty-acyl-CoA biosynthetic process | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| regulation of apoptotic signaling pathway | 1 |
| primary metabolic process | 1 |
| lipid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| long-chain fatty acid metabolic process | 1 |
| fatty acid-CoA ligase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| mitochondrial membrane | 1 |
| organelle outer membrane | 1 |
| endomembrane system | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Experimentally-supported GO annotations
GO terms backed by direct experimental evidence (ECO experimental codes) — 8 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).
8 experimentally-supported GO terms:
| GO term | NS | Evidence |
|---|---|---|
| long-chain fatty acid metabolic process | BP | direct assay |
| regulation of extrinsic apoptotic signaling pathway | BP | direct assay |
| endoplasmic reticulum | CC | direct assay |
| membrane | CC | high-throughput assay |
| mitochondrion | CC | direct assay |
| plasma membrane | CC | direct assay |
| long-chain fatty acid-CoA ligase activity | MF | direct assay |
| oleoyl-CoA ligase activity | MF | direct assay |
Protein interactions and networks
STRING
showing 15 of 1,752 interactions by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACSL5 | ACSS1 | Q9NUB1 | 877 |
| ACSL5 | AASDH | Q4L235 | 867 |
| ACSL5 | ACSS2 | Q9NR19 | 848 |
| ACSL5 | DGAT1 | O75907 | 815 |
| ACSL5 | SLC27A1 | Q6PCB7 | 704 |
| ACSL5 | SLC27A2 | O14975 | 697 |
| ACSL5 | ABCD1 | P33897 | 658 |
| ACSL5 | CD36 | P16671 | 636 |
| ACSL5 | ABCD3 | P28288 | 630 |
| ACSL5 | ACADM | P11310 | 617 |
| ACSL5 | SCARB2 | Q14108 | 609 |
| ACSL5 | SCARB1 | Q8WTV0 | 592 |
| ACSL5 | FASN | P49327 | 583 |
| ACSL5 | ABL2 | P42684 | 558 |
| ACSL5 | THOC5 | Q13769 | 554 |
IntAct
Human interaction partners of ACSL5 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).
12 partners by confidence:
| Partner | Interaction type | MIscore | Records |
|---|---|---|---|
| RETREG3 | physical association | 0.560 | 5 |
| AQP6 | physical association | 0.560 | 3 |
| EBAG9 | physical association | 0.560 | 3 |
| PEX12 | physical association | 0.560 | 3 |
| SELI | physical association | 0.560 | 3 |
| SLC10A1 | physical association | 0.560 | 3 |
| SLC10A6 | physical association | 0.560 | 3 |
| SLC16A7 | physical association | 0.560 | 3 |
| SLC35C2 | physical association | 0.560 | 3 |
| SLC7A14 | physical association | 0.560 | 3 |
| TMEM14B | physical association | 0.560 | 3 |
| CREB3 | physical association | 0.370 | 1 |
BioGRID (42 interactions; top human partners by supporting records): USP29 (Affinity Capture-Western; 4 records), ACAA1 (FRET), AQP6 (Two-hybrid), CAV2 (Affinity Capture-MS), COQ9 (Affinity Capture-MS), CREB3 (Two-hybrid), EBAG9 (Two-hybrid), ELK1 (Affinity Capture-MS), EPT1 (Two-hybrid), FAM134C (Two-hybrid), FAM136A (Affinity Capture-MS), FBXO7 (Biochemical Activity), KIF11 (Affinity Capture-MS), PAK1 (Affinity Capture-MS), PARP2 (Proximity Label-MS)
SIGNOR signaling
2 signaling interactions:
| A | Effect | B | Mechanism |
|---|---|---|---|
| ACSL5 | “up-regulates quantity” | “long-chain fatty acyl-CoA(4-)” | “chemical modification” |
| ACSL5 | “down-regulates quantity” | “long-chain fatty acid anion” | “chemical modification” |
Disease & clinical
Genetic variants
Variant evidence for ACSL5: 121 ClinVar records (2 pathogenic / likely pathogenic); 9 GWAS associations. Per-variant detail is on Sugi Variant.
ClinVar
121 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 10 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (2)
Showing all 2 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.
| Variant ID | HGVS | Classification | Review | Submitters |
|---|---|---|---|---|
| 1527599 | GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 | Pathogenic | criteria provided, single submitter | 1 |
| 2500167 | NM_203379.2(ACSL5):c.1358C>A (p.Thr453Lys) | Pathogenic | no assertion criteria provided | 1 |
Per-variant reference — Sugi Variant
Explore ACSL5’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.
SpliceAI
Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 38 predictions of 1,762):
| Position(s) | Effect | Δscore | Sites |
|---|---|---|---|
| 10:112374270 | donor_loss | 1.0000 | |
| 10:112409505–112409506 | acceptor_loss | 1.0000 | 6 |
| 10:112410444 | acceptor_gain | 1.0000 | |
| 10:112410460 | acceptor_gain | 1.0000 | |
| 10:112413171–112413172 | acceptor_loss | 1.0000 | 6 |
| 10:112413303 | donor_gain | 1.0000 | |
| 10:112413308–112413309 | donor_loss | 1.0000 | 5 |
| 10:112421591–112421592 | acceptor_loss | 1.0000 | 6 |
| 10:112421666–112421667 | donor_loss | 1.0000 | 5 |
| 10:112422323–112422324 | acceptor_loss | 1.0000 | 6 |
HPA cancer prognostics
RNA cancer specificity: Cancer enhanced (Rectum Adenocarcinoma)
Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.
1 prognostic cancer types:
| Cancer | Prognostic | p-value |
|---|---|---|
| Pancreatic Adenocarcinoma (TCGA) | unfavorable | 0.000584 |
Disease associations
OMIM: gene MIM:605677 | disease phenotypes: MIM:620357
GenCC curated gene-disease
1 curated gene-disease records:
| Disease | Classification | Inheritance | Records |
|---|---|---|---|
| diarrhea 13 | Limited | Unknown | 2 |
Mondo (1): diarrhea 13 (MONDO:0957253)
HPO phenotypes
9 phenotypes (HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001397 | Hepatic steatosis |
| HP:0001508 | Failure to thrive |
| HP:0001988 | Recurrent hypoglycemia |
| HP:0002013 | Vomiting |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003073 | Hypoalbuminemia |
| HP:0003623 | Neonatal onset |
| HP:0005208 | Secretory diarrhea |
GWAS associations
9 associations:
| Study | Trait | p-value |
|---|---|---|
| GCST90002395_578 | Mean platelet volume | 6e-26 |
| GCST004599_9 | Mean platelet volume | 1e-24 |
| GCST90002395_577 | Mean platelet volume | 3e-18 |
| GCST90002380_83 | Basophil percentage of white cells | 7e-12 |
| GCST004599_10 | Mean platelet volume | 1e-11 |
| GCST90002395_576 | Mean platelet volume | 2e-11 |
| GCST010857_1 | Amyotrophic lateral sclerosis | 8e-11 |
| GCST90002402_175 | Platelet count | 3e-10 |
| GCST008949_1 | High chromosomal aberration frequency (chromosome type) in genotoxic compound exposure | 3e-6 |
EFO canonical traits (from GWAS)
3 canonical traits:
| EFO ID | Trait name |
|---|---|
| EFO:0009861 | chromosome-type aberration frequency |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0004309 | platelet count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105818 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 12,907 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
3 molecules by phase:
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL3301622 | GILTERITINIB | 4 | 2,542 |
| CHEMBL491473 | CEDIRANIB | 3 | 9,464 |
| CHEMBL1088752 | LOSMAPIMOD | 3 | 901 |
PharmGKB: 1 entry (CPIC guideline: no)
Binding affinities (BindingDB)
2 measured of 4 human assays (184 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| CHEMBL4761388 | IC50 | 69000 nM |
| CHEMBL4776019 | IC50 | 114000 nM |
ChEMBL bioactivities
3 potent at pChembl≥5 of 3 total, top 3 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.10 | Kd | 8 | nM | CEDIRANIB |
| 6.68 | Kd | 208 | nM | GILTERITINIB |
| 5.77 | Kd | 1690 | nM | LOSMAPIMOD |
PubChem BioAssay actives
3 with measured affinity, of 181 total; 3 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 |
|---|---|---|---|---|
| 4-[(4-fluoro-2-methyl-1H-indol-5-yl)oxy]-6-methoxy-7-(3-pyrrolidin-1-ylpropoxy)quinazoline | 1424897: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 0.0080 | uM |
| Gilteritinib | 1424897: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 0.2080 | uM |
| 6-[5-(cyclopropylcarbamoyl)-3-fluoro-2-methylphenyl]-N-(2,2-dimethylpropyl)pyridine-3-carboxamide | 1424897: Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by mass spectrometry. | kd | 1.6900 | uM |
CTD chemical–gene interactions
67 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 5 |
| Acetaminophen | increases expression, decreases expression | 4 |
| Benzo(a)pyrene | affects expression, affects methylation, decreases expression | 4 |
| Tetrachlorodibenzodioxin | decreases expression, increases expression, affects expression | 4 |
| Cyclosporine | decreases expression, increases expression | 3 |
| GW 7647 | affects cotreatment, increases expression | 2 |
| Estradiol | affects cotreatment, decreases expression | 2 |
| Smoke | decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| Palmitic Acid | affects response to substance, affects abundance, decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| afuresertib | increases expression | 1 |
| 3,19-(2-bromobenzylidene)andrographolide | decreases expression, decreases response to substance | 1 |
| bisphenol F | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| bisphenol A | decreases expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| ascorbate-2-phosphate | increases expression, affects binding, affects cotreatment | 1 |
| beta-lapachone | increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
ChEMBL screening assays
2 unique, capped per target: 2 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3991610 | Binding | Kinobeads (epsilon), multiple immobilized ATP-competitive broad spectrum kinase inhibitors, used to assess residual binding of ~300 proteins simultaneously from cell lysate in the presence of a compound. Quantitative readout performed by ma | The target landscape of clinical kinase drugs. — *Science* |
Clinical trials (associated diseases)
Via MONDO — disease-level, not drug-specific.
Predicted chemistry — Sugi Predict
The predicted patent-compound landscape for ACSL5 across ~30M SureChEMBL compounds — explore on Sugi Predict.
Related Atlas pages
- Associated diseases: diarrhea 13
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): amyotrophic lateral sclerosis, diarrhea 13