2. Gene
  3. ACSL3 - acyl-CoA synthetase long chain family member 3 Gene

ACSL3 - acyl-CoA synthetase long chain family member 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ACS3; FACL3; LACS3; LACS 3; PRO2194

Gene ID: 2181 | Gene type: protein coding

About ACSL3

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:222,861,036-222,944,639 (from NCBI)

This gene has 36 transcripts (splice variants), 248 orthologues, 12 paralogues and is associated with 62 phenotypes. Ubiquitous expression in prostate (RPKM 44.8), brain (RPKM 31.0) and 24 other tissues.

Summary

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 Products(4)

mRNA Protein Name
NM_001354158.2 NP_001341087.1 fatty acid CoA ligase Acsl3
NM_001354159.2 NP_001341088.1 fatty acid CoA ligase Acsl3
NM_004457.5 NP_004448.2 fatty acid CoA ligase Acsl3
NM_203372.3 NP_976251.1 fatty acid CoA ligase Acsl3
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables long-chain fatty acid-CoA ligase activity IMP
IMP: Inferred from mutant phenotype
20219900 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
29549094 GOA
enables protein domain specific binding IPI
IPI: Inferred from physical interaction
20605918 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
20605918 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of long-chain fatty acid import into cell IDA
IDA: Inferred from direct assay
20219900 GOA
involved in long-chain fatty acid metabolic process IMP
IMP: Inferred from mutant phenotype
22633490 GOA
involved in positive regulation of Golgi to plasma membrane protein transport IMP
IMP: Inferred from mutant phenotype
20605918 GOA
involved in positive regulation of phosphatidylcholine biosynthetic process IMP
IMP: Inferred from mutant phenotype
18003621 GOA
involved in positive regulation of secretion IMP
IMP: Inferred from mutant phenotype
18003621 GOA
involved in very-low-density lipoprotein particle assembly IMP
IMP: Inferred from mutant phenotype
18003621 GOA
Cellular Component GO Annotation Evidence Reference Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
20605918 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
14741744 GOA
located in lipid droplet IDA
IDA: Inferred from direct assay
14741744 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
14741744 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACSL3 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (126 - 586)

  • 0
  • 200
  • 400
  • 600
  • 720 a.a.
Protein Preferred Names Protein Names

fatty acid CoA ligase Acsl3

arachidonate--CoA ligase

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome

MRD38

Prelds

Autosomal Dominant Non-Syndromic Intellectual Disability 38

Mental Retardation, Autosomal Dominant 38

Autosomal Dominant Intellectual Developmental Disorder 38

Autosomal Dominant Mental Retardation 38

Mental Retardation, Autosomal Dominant, Type 38
Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome
Non-Syndromic X-Linked Intellectual Disability 63

Acsl4-Related Intellectual Disability

Mrx63

Mrx68

X-Linked Mental Retardation 68
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00201 ACSL3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ACSL3 VGNC VGNC:59535
Macaca mulatta ACSL3 VGNC VGNC:69565
Canis familiaris ACSL3 VGNC VGNC:37533
Rattus norvegicus ACSL3 RGD RGD:70552
Bos taurus ACSL3 VGNC VGNC:25565
Mus musculus ACSL3 MGD MGI:1921455