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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 brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ACSL3 (Acyl-CoA Synthetase Long Chain Family Member 3) is a Protein Coding gene. Diseases associated with ACSL3 include Mental Retardation, Autosomal Dominant 38 and Her2-Receptor Negative Breast Cancer. Among its related pathways are Fatty Acid Biosynthesis (WikiPathways) and Fatty Acyl-CoA Biosynthesis. Gene Ontology (GO) annotations related to this gene include protein kinase binding and long-chain fatty acid-CoA ligase activity. An important paralog of this gene is ACSL4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004467 | long-chain fatty acid-CoA ligase activity | IBA,ISS | -- |
GO:0005515 | protein binding | IPI | 29549094 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA | -- |
GO:0005741 | mitochondrial outer membrane | IEA | -- |
GO:0005777 | peroxisome | IEA | -- |
GO:0005778 | peroxisomal membrane | IEA | -- |
GO:0005783 | endoplasmic reticulum | IBA,IDA | 14741744 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Fatty Acyl-CoA Biosynthesis | ||
2 | fatty acid beta-oxidation (peroxisome) | ||
3 | Metabolism |
.40
|
|
4 | Mitochondrial LC-Fatty Acid Beta-Oxidation | ||
5 | Adipocytokine signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001676 | long-chain fatty acid metabolic process | IBA,ISS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006633 | fatty acid biosynthetic process | IEA | -- |
GO:0007420 | brain development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Palmitic Acid | Approved | Pharma | 27 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
Icosapent | Approved | Nutra | Endogenous polyunsaturated fatty acid; stimulates ERK1/2 phosphorylation | 0 | ||
Hexanoyl-CoA | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | |||||||||||||
SP3: | |||||||||||||
SP4: | - | - | |||||||||||
SP5: | |||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ACSL3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ACSL3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ACSL3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Acsl3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Acsl3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ACSL3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ACSL3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ACSL3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ACSL3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | acsl4 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33876 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | acsl3a 31 |
|
OneToMany | |
acsl3b 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | Acsl 30 31 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003623 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | acs-17 31 |
|
ManyToMany | |
acs-4 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | FAA3 31 33 |
|
ManyToMany | |
FAA1 31 |
|
ManyToMany | |||
FAA4 31 |
|
ManyToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | LACS8 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0317200 30 |
|
||
Os.7310 30 |
|
||||
Wheat (Triticum aestivum) |
Liliopsida | Ta.7413 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.8032 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs141462096 | Benign: not provided | 222,934,572(+) |
G/A NM_004457.5(ACSL3):c.1890G>A (p.Lys630=) |
SYNONYMOUS | |
rs144556995 | Likely Benign: not provided | 222,919,191(+) |
A/G NM_004457.5(ACSL3):c.794A>G (p.Lys265Arg) |
MISSENSE | |
rs145651020 | Benign: not provided | 222,916,468(+) |
A/G NM_004457.5(ACSL3):c.528A>G (p.Ala176=) |
SYNONYMOUS | |
rs146044900 | Benign: not provided | 222,908,805(+) |
C/T NM_004457.5(ACSL3):c.33C>T (p.Thr11=) |
SYNONYMOUS | |
rs1046032 | - |
p.Phe551Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv109n73 | CNV | deletion | 24416366 |
dgv2156n106 | CNV | deletion | 24896259 |
esv1240242 | CNV | deletion | 17803354 |
esv1617678 | CNV | deletion | 17803354 |
esv2151193 | CNV | deletion | 18987734 |
esv2621841 | CNV | deletion | 19546169 |
esv2652841 | CNV | deletion | 19546169 |
esv2721520 | CNV | deletion | 23290073 |
esv2721521 | CNV | deletion | 23290073 |
esv2838902 | CNV | deletion | 24192839 |
esv3561055 | CNV | deletion | 23714750 |
esv3561056 | CNV | deletion | 23714750 |
esv3575333 | CNV | gain | 25503493 |
esv3584363 | CNV | loss | 25503493 |
esv3594432 | CNV | loss | 21293372 |
esv3725 | CNV | loss | 18987735 |
esv4072 | CNV | loss | 18987735 |
esv9602 | CNV | loss | 19470904 |
esv997784 | CNV | deletion | 20482838 |
nsv1011830 | CNV | gain | 25217958 |
nsv1072498 | CNV | deletion | 25765185 |
nsv1116829 | CNV | deletion | 24896259 |
nsv1151451 | CNV | deletion | 26484159 |
nsv215259 | CNV | deletion | 16902084 |
nsv3181 | CNV | deletion | 18451855 |
nsv435722 | CNV | deletion | 17901297 |
nsv436299 | CNV | deletion | 17901297 |
nsv511839 | CNV | loss | 21212237 |
nsv819092 | CNV | loss | 19587683 |
nsv954182 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal dominant 38 |
|
|
her2-receptor negative breast cancer |
|
|
spinocerebellar ataxia, autosomal recessive 20 |
|
|
saethre-chotzen syndrome |
|
|
fetal akinesia deformation sequence 1 |
|
|