ACSL4 Gene
protein-coding GIFtS : 65
GC0XM108771
acyl-CoA synthetase long-chain family member 4 (Previous names: fatty-acid-Coenzyme A ligase, long-chain 4, mental retardation, X-linked 63, mental retardation, X-linked 68 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbols: FACL4, MRX63, MRX68 )
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Aliases & Descriptions for ACSL4
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ACS4 1 , 2 , 3 , 5 EC 6.2.1.3 3 FACL4 2 , 3 , 5 LACS4 1 , 2 , 3 MRX63 2 , 5 MRX68 2 OTTHUMP00000023846 2
Descriptions LACS 4 3 Long-chain acyl-CoA synthetase 4 3 acyl-CoA synthetase 4 2 acyl-CoA synthetase long-chain family member 4 2 fatty-acid-Coenzyme A ligase, long-chain 4 1 , 2 lignoceroyl-CoA synthase 2 long-chain fatty-acid-Coenzyme A ligase 4 2 mental retardation, X-linked 63 1 mental retardation, X-linked 68 1
Search outside databases for aliases for ACSL4 genePrevious GC identifers: GC0XM107649 GC0XM108690
Summaries for ACSL4 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACSL4 : The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligasefamily. Although differing in substrate specificity, subcellular localization, and tissuedistribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoAesters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozymepreferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute tothe mental retardation or Alport syndrome. Alternative splicing of this gene generates 2transcript variants. [provided by RefSeq] UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488 Function : Activation of long-chain fatty acids for both synthesis of cellular lipids, anddegradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate assubstrates
Gene Wiki entry for ACSL4
Genomic Location for ACSL4
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ACSL4 gene Entrez Gene cytogenetic band: Xq22.3-q23 Ensembl cytogenetic band: Xq22.3 HGNC cytogenetic band: Xq22.3-q23 ACSL4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM108771:
(about GC identifiers )
Start:
108,771,220 bp from pter
End:
108,863,277 bp from pter
Size:
92,058 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000023.9 NT_011651.16 Proteins for ACSL4
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488 (See
protein sequence )Recommended Name: Long-chain-fatty-acid--CoA ligase 4 Size : 711 amino acids; 79188 Da
Cofactor : Magnesium (By similarity)
Subcellular location : Mitochondrion outer membrane; Single-pass type III membrane protein (Bysimilarity). Peroxisome membrane; Single-pass type III membrane protein (By similarity). Microsomemembrane; Single-pass type III membrane protein (By similarity). Endoplasmic reticulum membrane;Single-pass type III membrane protein (By similarity)
Secondary accessions : O60848 O60849Alternative splicing : 2 isoforms : O60488-1 O60488-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_004449.1 NP_075266.1 ENSEMBL proteins: ENSP00000262835 ENSP00000385157 ENSP00000339787 ENSP00000361149 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ACSL4 5/10 Gene Ontology (GO) cellular component terms (links to tree view) (see all 10
):
About this table Antibodies for ACSL4: Assays for ACSL4:
Protein
Domains/ Families for ACSL4(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O60488 ProtoNet protein and cluster: O60488
1 Blocks protein family : IPB000873 AMP-binding signature UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488 Similarity : Belongs to the ATP-dependent AMP-binding enzyme family
Gene Function for ACSL4
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_022977 Applied Biosystems Silencer ® siRNAs for ACSL4 Sigma-Aldrich siRNA for ACSL4 Sigma-Aldrich shRNA for ACSL4 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_004458                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_004458                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_004458  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_022977 UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488 Function : Activation of long-chain fatty acids for both synthesis of cellular lipids, anddegradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate assubstrates Catalytic activity : ATP + a long-chain carboxylic acid + CoA = AMP + diphosphate + an acyl-CoAEnzyme Number (IUBMB): EC 6.2.1.3
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Acsl4) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for ACSL4
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for ACSL4 (Your Favorite Gene powered by Ingenuity) 5/37 Interacting proteins for ACSL4 (ENSP00000339787 3 O60488 2 ) via UniProtKB, MINT, and/or STRING (see all 37
)About this table 4 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for ACSL4 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ACSL4 5 Novoseek chemical compound relationships for ACSL4 gene
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Transcripts for ACSL4(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_022977 Sigma-Aldrich siRNA for ACSL4 Sigma-Aldrich shRNA for ACSL4 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_004458 NM_022977
REFSEQ mRNAs for ACSL4 gene (2 alternative transcripts): NM_004458.2 NM_022977.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004458 NM_022977
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_004458                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_004458                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_004458  
Additional cDNA sequence: AB061713.1 AB061714.1 AF030555.1 AJ227865.1 AK292070.1 AK294197.1 AK294915.1 AK307566.1 BC034959.2 CR603171.1 Y12777.1 Y13058.1
14 DOTS entries : DT.317429 DT.99998784 DT.92436948 DT.100814367 DT.121301757 DT.121301738 DT.121301650 DT.121301752 DT.91830694 DT.100814371 DT.121301762 DT.40117087 DT.100802668 DT.99926904
24/231 AceView cDNA sequences (see all 231
):AI540829 BM930104 AI282399 AA831304 AI610538 AI305180 CA450610 BG392638 BX371469 AA633818 AB061714 AL550201 Z43734 BQ050038 AA232192 CA446060 CB154092 CB243526 AI269401 N33823 AA251792 AI359286 AW089807 AI367469
highest scoring ESTs for ACSL4 :AF030555 AB061713 AB061714 AL036290 AL691592 AL701685 AL708850 AV693478 AV694590 BC034959
Unigene Cluster for ACSL4: Acyl-CoA synthetase long-chain family member 4 Hs.268785 [show with all ESTs ] Unigene Representative Sequence: NM_022977 GeneLoc Exon Structure 5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ACSL4 (see all 7
) ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ SP1 :             -   -   -                                     SP2 :             -   -   -                                     SP3 :             -                                         SP4 :           -   -                                         SP5 :             -   -                                      
About this scheme ECgene alternative splicing isoforms for ACSL4 4 Ensembl transcripts including schematic representations : ENST00000348502
ENST00000407441
ENST00000340800
ENST00000372078
Expression for ACSL4
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ACSL4 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACSL4 1 / 2 / 3
6 probe-sets matching ACSL4 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTATCAAAAASOURCE GeneReport for Unigene cluster: Hs.268785 Expression variation in blood from EXPOLDB for ACSL4
Orthologs for ACSL4
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ACSL4 gene from 5/12 species (see all 12
)
About this table Species with no ortholog for ACSL4 ENSEMBL Gene Tree for ACSL4 Paralogs for ACSL4 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACSL4 gene ACSL3 2
SNPs/Variants for ACSL4 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ACSL4 (up to first 250kb)
Disorders & Mutations for ACSL4
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 300157 disorders : 300387 UniProtKB/Swiss-Prot: ACSL4_HUMAN, O60488
Defects in ACSL4 are the cause of mental retardation X-linked type 63 (MRX63)[MIM:300387]. Mental retardation is a mental disorder characterized by significantly sub-averagegeneral intellectual functioning associated with impairments in adaptative behavior and manifestedduring the developmental period. Non-syndromic mental retardation patients do not manifest otherclinical signs Defects in ACSL4 may be a cause of AMME complex [MIM:300194]; also known as Alportsyndrome with mental retardation, midface hypoplasia and elliptocytosis. The AMME complex is acontiguous gene deletion syndrome
10/11 Novoseek disease relationships for ACSL4 gene (see all 11
)
About this table Human Gene Mutation Database : ACSL4 Genetic Association Database: ACSL4 Human Genome Epidemiology Navigator: ACSL4 (4 documents)
Medical News for ACSL4 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ACSL4 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/37 PubMed articles for ACSL4 gene (see all 37
): FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (PubMed id 9480748) 1, 2, 3, 4 Piccini M....Renieri A. (1998) Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. (PubMed id 15108178) 1, 3, 6 Covault J....Kranzler H.R. (2004) Cloning, expression, and chromosomal localization of human long-chain fatty acid-CoA ligase 4 (FACL4). (PubMed id 9598324) 1, 3, 4 Cao Y.... Prescott S.M. (1998) FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X- linked mental retardation. (PubMed id 11889465) 1, 3, 4 Meloni I.... Renieri A. (2002) Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24. (PubMed id 12949969) 1, 2, 3 Verot L....Edery P. (2003) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Regulation of cell growth by fatty acid-CoA ligase 4 in human hepatocellular carcinoma cells. (PubMed id 17934335) 1, 3 Sung Y.K....Kim M.K. (2007) Fatty acid CoA ligase 4 is up-regulated in colon adenocarcinoma. (PubMed id 11731423) 1, 3 Cao Y....Prescott S.M. (2001) Involvement of fatty acid-CoA ligase 4 in hepatocellular carcinoma growth: roles of cyclic AMP and p38 mitogen-activated protein kinase. (PubMed id 15849811) 1, 3 Liang Y.C....Lin S.Y. (2005) Fatty acid-CoA ligase 4 is overexpressed in human hepatocellular carcinoma. (PubMed id 12824887) 1, 3 Sung Y.K....Kim M. (2003)
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Genome Databases showing ACSL4
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ACSL4
(According to HUGE )
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Specialized Databases showing ACSL4 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=ACSL4
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-- Services for ACSL4 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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