Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2182 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Acyl-CoA synthetase long chain family member 4 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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ACSL4 |
SynonymsGene synonyms aliases
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ACS4, FACL4, LACS4, MRX63, MRX68, XLID63 |
ChromosomeChromosome number
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X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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Xq23 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs122458138 |
G>T |
Pathogenic |
Coding sequence variant, missense variant |
rs122458139 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs183171123 |
T>C |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
rs200451158 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign |
Missense variant, coding sequence variant |
rs886042180 |
AT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1569423317 |
T>C |
Pathogenic |
Splice acceptor variant |
rs1603401125 |
A>C |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
O60488 |
Protein name |
Long-chain-fatty-acid--CoA ligase 4 (EC 6.2.1.3) (Arachidonate--CoA ligase) (EC 6.2.1.15) (Long-chain acyl-CoA synthetase 4) (LACS 4) |
Protein function |
Catalyzes the conversion of long-chain fatty acids to their active form acyl-CoA for both synthesis of cellular lipids, and degradation via beta-oxidation (PubMed:21242590, PubMed:22633490, PubMed:24269233). Preferentially activates arachidonate |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00501 |
AMP-binding |
103 → 578 |
AMP-binding enzyme |
Family |
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Sequence |
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Sequence length |
711 |
Interactions |
View interactions |