Long-chain-fatty-acid—CoA ligase 1 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecule ...
that in humans is encoded by the ''ACSL1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Structure
Gene
The ACSL1 gene is located on the 4th chromosome, with its specific location being 4q35.1. The gene contains 28 exons.
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.
In melanocytic cells ACSL1 gene expression may be regulated by
MITF
Microphthalmia-associated transcription factor also known as class E basic helix-loop-helix protein 32 or bHLHe32 is a protein that in humans is encoded by the ''MITF'' gene.
MITF is a basic helix-loop-helix leucine zipper transcription factor ...
.
Function
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.
Several transcript variants encoding different isoforms have been found for this gene. This specific protein is most commonly found in mitochondria and peroxisomes.
Clinical significance
ACSL1 is known to be involved in fatty-acid metabolism critical for heart function and nonspecific mental retardation. Since the ACSL4 gene is highly expressed in brain, where it encodes a brain specific isoform, an ASCL1 mutation may be an efficient diagnostic tool in mentally retarded males.
Interactions
ACSL1 expression is regulated by SHP2 activity.
Additionally, ACSL4 interacts with
ACSL3
Long-chain-fatty-acid—CoA ligase 3 is an enzyme that in humans is encoded by the ''ACSL3'' gene.
Function
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate s ...
,
APP
App, Apps or APP may refer to:
Computing
* Application software
* Mobile app, software designed to run on smartphones and other mobile devices
* Web application or web app, software designed to run inside a web browser
* Adjusted Peak Performan ...
,
DSE,
ELAVL1,
HECW2, MINOS1,
PARK2,
SPG20
Spartin is a protein that in humans is encoded by the ''SPG20'' gene.
This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dy ...
,
SUMO2
Small ubiquitin-related modifier 2 is a protein that in humans is encoded by the ''SUMO2'' gene.
Function
This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It is a ubiquitin-like protein a ...
,
TP53
p53, also known as Tumor protein P53, cellular tumor antigen p53 (UniProt name), or transformation-related protein 53 (TRP53) is a regulatory protein that is often mutated in human cancers. The p53 proteins (originally thought to be, and often s ...
,
TUBGCP3,
UBC,
UBD, and
YWHAQ.
References
Further reading
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External links
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Human proteins
{{gene-4-stub