ACSL4 - acyl-CoA synthetase long chain family member 4 Gene

Also Known as ACS4; FACL4; LACS4; MRX63; MRX68; XLID63

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2182

About ACSL4

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:109,641,335-109,733,257 (from NCBI)

This gene has 18 transcripts (splice variants), 271 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 24.5), appendix (RPKM 24.0) and 25 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 preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]

ACSL4 Products (4)

mRNA	Protein	Name
NM_001318509.2	NP_001305438.1	long-chain-fatty-acid--CoA ligase 4 isoform 2
NM_001318510.2	NP_001305439.1	long-chain-fatty-acid--CoA ligase 4 isoform 1
NM_004458.3	NP_004449.1	long-chain-fatty-acid--CoA ligase 4 isoform 1
NM_022977.3	NP_075266.1	long-chain-fatty-acid--CoA ligase 4 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables arachidonate-CoA ligase activity	IDA IDA: Inferred from direct assay	9598324	GOA
enables long-chain fatty acid-CoA ligase activity	EXP EXP: Inferred from Experiment	11889465	GOA
enables long-chain fatty acid-CoA ligase activity	IDA IDA: Inferred from direct assay	10669417	GOA
enables long-chain fatty acid-CoA ligase activity	IMP IMP: Inferred from mutant phenotype	22633490	GOA
enables very long-chain fatty acid-CoA ligase activity	IMP IMP: Inferred from mutant phenotype	11889465	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in lipid biosynthetic process	IDA IDA: Inferred from direct assay	21242590	GOA
involved in lipid metabolic process	IDA IDA: Inferred from direct assay	9598324	GOA
involved in long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	24269233	GOA
involved in long-chain fatty acid metabolic process	IMP IMP: Inferred from mutant phenotype	22633490	GOA
involved in negative regulation of prostaglandin secretion	IDA IDA: Inferred from direct assay	21242590	GOA
involved in positive regulation of cell growth	IDA IDA: Inferred from direct assay	17934335	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11889465	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	24269233	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	14741744	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	23455425	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24269233	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

ACSL4 Protein Structure

AMP-binding

0
200
400
600
711 a.a.

Protein Preferred Names	Protein Names
long-chain-fatty-acid--CoA ligase 4	acyl-CoA synthetase 4

ACSL4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80977	FACL4 Antibody (YA851)	WB, IHC-P	Human, Mouse, Rat
HY-P86465	FACL4 Antibody (YA6157)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked 63	XLID63 Mrx63 Mental Retardation, X-Linked 68 Mrx68
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Stroke, Ischemic	Cerebral Infarction Stroke Ischemic Stroke Cerebrovascular Accident Cerebral Infarction, Susceptibility To Stroke, Ischemic, Susceptibility To Cerebral Infarct Ischemic Stroke, Susceptibility To Stroke, Susceptibility To Cva - Cerebral Infarction ISCHSTR Ischemic Cerebrovascular Accident
Amme Complex	Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis ATS-MR Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Chromosome Xq22.3 Telomeric Deletion Syndrome Amme Syndrome Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Non-Syndromic X-Linked Intellectual Disability 63	Acsl4-Related Intellectual Disability Mrx63 Mrx68 X-Linked Mental Retardation 68
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Her2-Receptor Negative Breast Cancer
Colon Adenocarcinoma	Adenocarcinoma Of Colon Adenocarcinoma Of The Colon Colonic Adenocarcinoma
Non-Syndromic X-Linked Intellectual Disability 30	Mrx30 Mrx47 X-Linked Mental Retardation 30/47 X-Linked Mental Retardation 47 Mental Retardation, X-Linked, Type 30/47
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Her2-Receptor Positive Breast Cancer
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Hypotonia

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 (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N6707	Triacsin C	Inhibitor	99.08%	Unkown
HY-173432	LIBX-A401	Inhibitor	99.9%	Unkown
HY-175328	LIBX-A403	Inhibitor	99.23%	Unkown
HY-121246	Fluorofenidone	Inhibitor	99.78%	Unkown
HY-175327	LIBX-A402	Inhibitor	98.71%	Unkown
HY-113167	2-Phosphoglyceric acid	Inhibitor	/	Unkown
HY-174345	Ferroptosis inducer-8	Activator	/	Unkown
HY-175698	Ferroptosis inducer-9	Activator	/	Unkown
HY-179384	PROTAC FSP1 degrader 1	Activator	/	Unkown
HY-149717	Antitumor agent-122		/	Unkown
HY-155851	Lepadin E	Activator	/	Unkown
HY-183791A	Ferroptosis/apoptosis inducer-5	Activator	/	Unkown
HY-112005G	DOPE (GMP)	Inhibitor	/	Unkown
HY-155852	Lepadin H	Activator	/	Unkown
HY-121246S	Fluorofenidone-d3	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ACSL4	RGD	RGD:69401
Felis catus	ACSL4	VGNC	VGNC:59536
Bos taurus	ACSL4	VGNC	VGNC:25566
Macaca mulatta	ACSL4	VGNC	VGNC:69566
Mus musculus	ACSL4	MGD	MGI:1354713
Canis familiaris	ACSL4	VGNC	VGNC:37534
Others	ACSL4	NCBI