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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2181

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	Verweise	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	Verweise	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	Verweise	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

0
200
400
600
720 a.a.

Protein Preferred Names	Protein Names
fatty acid CoA ligase Acsl3	arachidonate--CoA ligase

ACSL3 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P86762	ACSL3 Antibody (YA6455)	WB, IHC-P	Human

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

Pre-clinical Phase

Bioactive Molecules (6)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-175328	LIBX-A403	Inhibitor	99.23%	Unkown
HY-186096	LP-856866		99.92%	Unkown
HY-175327	LIBX-A402	Inhibitor	98.71%	Unkown
HY-RS00201	ACSL3 Human Pre-designed siRNA Set A		/	Unkown
HY-RS18983	Acsl3 Mouse Pre-designed siRNA Set A		/	Unkown
HY-RS25472	Acsl3 Rat Pre-designed siRNA Set A		/	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
Others	ACSL3	NCBI