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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACSL6 Gene

protein-coding   GIFtS: 62
GCID: GC05M131147

Acyl-CoA Synthetase Long-Chain Family Member 6

(Previous names: fatty-acid-Coenzyme A ligase, long-chain 6)
(Previous symbol: FACL6)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acyl-CoA Synthetase Long-Chain Family Member 61 2     LACS22
FACL61 2 3 5     Long Fatty Acyl-CoA Synthetase 22
ACS22 3 5     Long-Chain-Fatty-Acid--CoA Ligase 62
Fatty-Acid-Coenzyme A Ligase, Long-Chain 61 2     KIAA08373
LACS52 3     Long-Chain Acyl-CoA Synthetase 63
LACS 62 3     EC 6.2.18
EC 6.2.1.33 8     

External Ids:    HGNC: 164961   Entrez Gene: 233052   Ensembl: ENSG000001643987   OMIM: 6044435   UniProtKB: Q9UKU03   

Export aliases for ACSL6 gene to outside databases

Previous GC identifers: GC05M131366 GC05M131170 GC05M126481 GC05M131144 GC05M131145 GC05M131146


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACSL6 Gene:
The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using
magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain.
Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous
leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, Apr 2011)

GeneCards Summary for ACSL6 Gene: 
ACSL6 (acyl-CoA synthetase long-chain family member 6) is a protein-coding gene. Diseases associated with ACSL6 include gestational choriocarcinoma, and eosinophilia, and among its related super-pathways are Metabolic pathways and Fatty Acid Beta Oxidation. GO annotations related to this gene include long-chain fatty acid-CoA ligase activity and protein homodimerization activity. An important paralog of this gene is ACSBG1.

UniProtKB/Swiss-Prot: ACSL6_HUMAN, Q9UKU0
Function: Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via
beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be
utilized exclusively for the synthesis of the brain lipid

Gene Wiki entry for ACSL6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACSL6 gene promoter:
         NRSF form 1   AP-2gamma   NRSF form 2   FAC1   FOXO1a   AP-2alpha   FOXO1   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACSL6 promoter sequence
   Search SABiosciences Chromatin IP Primers for ACSL6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACSL6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31

ACSL6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACSL6 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M131147:  view genomic region     (about GC identifiers)

Start:
131,142,683 bp from pter      End:
131,347,936 bp from pter
Size:
205,254 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACSL6_HUMAN, Q9UKU0 (See protein sequence)
Recommended Name: Long-chain-fatty-acid--CoA ligase 6  
Size: 697 amino acids; 77752 Da
Cofactor: Magnesium
Subcellular location: Mitochondrion outer membrane; Single-pass type III membrane protein (By similarity).
Peroxisome membrane; Single-pass type III membrane protein (By similarity). Microsome membrane; Single-pass type
III membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type III membrane protein (By
similarity)
Developmental stage: Expression is low at earlier stages of erythroid development but is very high in
reticulocytes
Sequence caution: Sequence=AAH26161.1; Type=Erroneous termination; Positions=72; Note=Translated as Arg;
Sequence=BAA74860.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: J3KPG3 O94924 O95829 Q108M9 Q108N0 Q4G191 Q86TN7
Alternative splicing: 9 isoforms:  Q9UKU0-4   Q9UKU0-1   Q9UKU0-2   Q9UKU0-3   Q9UKU0-5   Q9UKU0-6   Q9UKU0-7   Q9UKU0-8   
Q9UKU0-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ACSL6: NX_Q9UKU0

Explore proteomics data for ACSL6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UKU0

  • 4/13 DME Specific Peptides for ACSL6 (Q9UKU0) (see all 13)
     YGQTECT  KGAMLTH  LPLAHMFE  VPLYDTLG 

    ACSL6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACSL6 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001009185.1  NP_001192176.1  NP_001192177.1  NP_001192179.1  NP_001192180.1  NP_056071.2  

    ENSEMBL proteins: 
     ENSP00000415140   ENSP00000368566   ENSP00000368557   ENSP00000296869   ENSP00000368548  
     ENSP00000368546   ENSP00000368542   ENSP00000413329   ENSP00000397507   ENSP00000398423  
     ENSP00000388424   ENSP00000398381   ENSP00000394810   ENSP00000389189   ENSP00000368551  
     ENSP00000368574   ENSP00000349608   ENSP00000442124   ENSP00000445154  
    Reactome Protein details: Q9UKU0
    Human Recombinant Protein Products for ACSL6: 
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    Novus Biologicals ACSL6 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ACSL6 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005778peroxisomal membrane IEA--
    GO:0005789endoplasmic reticulum membrane TAS--

    ACSL6 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for ACSL6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ACS: Acyl-CoA synthetase family

    2 InterPro protein domains:
     IPR000873 AMP-dep_Synth/Lig
     IPR020845 AMP-binding_CS

    Graphical View of Domain Structure for InterPro Entry Q9UKU0

    ProtoNet protein and cluster: Q9UKU0

    1 Blocks protein domain: IPB000873 AMP-binding signature

    UniProtKB/Swiss-Prot: ACSL6_HUMAN, Q9UKU0
    Similarity: Belongs to the ATP-dependent AMP-binding enzyme family


    ACSL6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACSL6_HUMAN, Q9UKU0
    Function: Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via
    beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be
    utilized exclusively for the synthesis of the brain lipid
    Catalytic activity: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA

         Enzyme Numbers (IUBMB): EC 6.2.1.31 2 EC 6.2.12

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004467long-chain fatty acid-CoA ligase activity NAS10548543
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0019899enzyme binding IPI--
         
    ACSL6 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACSL6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACSL6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACSL6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACSL6 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACSL6
    8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSL6 (see all 91):
    hsa-miR-548j hsa-miR-140-5p hsa-miR-579 hsa-miR-520e hsa-miR-3653 hsa-miR-374a hsa-miR-3613-3p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidACSL6 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for ACSL6
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for ACSL6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACSL6
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                         Customized lentivirus expression plasmids for stable overexpression of ACSL6 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACSL6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACSL6 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    3Fatty Acyl-CoA Biosynthesis
    Fatty Acyl-CoA Biosynthesis0.78
    Triglyceride Biosynthesis0.47
    Synthesis of very long-chain fatty acyl-CoAs0.78
    4fatty acid activation
    fatty acid beta-oxidation VI (peroxisome)0.46
    fatty acid beta-oxidation I0.40
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for ACSL6
        Fatty Acid Beta Oxidation
    fatty acid beta-oxidation VI (peroxisome)
    fatty acid beta-oxidation I
    Fatty Acid Biosynthesis


    5/6        Reactome Pathways for ACSL6 (see all 6)
        Metabolism
    Synthesis of very long-chain fatty acyl-CoAs
    Triglyceride Biosynthesis
    Fatty Acyl-CoA Biosynthesis
    Fatty acid, triacylglycerol, and ketone body metabolism


    5         Kegg Pathways  (Kegg details for ACSL6):
        Fatty acid degradation
    Metabolic pathways
    PPAR signaling pathway
    Peroxisome
    Adipocytokine signaling pathway


    ACSL6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACSL6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/23 Interacting proteins for ACSL6 (Q9UKU03 ENSP000002968694) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHYHO148323, ENSP000002630384I2D: score=2 STRING: ENSP00000263038
    YWHABP319463I2D: score=1 
    ACADVLENSP000003253954STRING: ENSP00000325395
    ACOX1ENSP000002932174STRING: ENSP00000293217
    CPT1AENSP000002656414STRING: ENSP00000265641
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0001676long-chain fatty acid metabolic process IDA--
    GO:0006637acyl-CoA metabolic process NAS10548543
    GO:0006641triglyceride metabolic process ----
    GO:0007405neuroblast proliferation IEA--

    ACSL6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACSL6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACSL6

    10/41 HMDB Compounds for ACSL6 (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    20-COOH-leukotriene E420-COOH-LTE4 (see all 3)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    6,9,12,15,18,21-Tetracosahexaenoic acidall-cis-6,9,12,15,18,21-tetracosahexaenoate (see all 8)----

    1 Novoseek inferred chemical compound relationship for ACSL6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 71.5 5 10548543 (2), 16834775 (1), 18555221 (1)

    Search CenterWatch for drugs/clinical trials and news about ACSL6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACSL6 gene (6 alternative transcripts): 
    NM_001009185.2  NM_001205247.1  NM_001205248.1  NM_001205250.1  NM_001205251.1  NM_015256.3  

    Unigene Cluster for ACSL6:

    Acyl-CoA synthetase long-chain family member 6
    Hs.14945  [show with all ESTs]
    Unigene Representative Sequence: NM_001009185
    18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000413683(uc003kvv.1) ENST00000379264(uc003kvw.2 uc010jdn.2 uc003kwb.3 uc003kvx.2 uc003kvy.2 uc003kvz.2 uc010jdo.2 uc021ydh.1 uc003kwa.2)
    ENST00000379255 ENST00000296869 ENST00000493861 ENST00000379246 ENST00000379244
    ENST00000379240 ENST00000431707(uc010jdp.1) ENST00000492156 ENST00000484870
    ENST00000434099 ENST00000489047 ENST00000430403 ENST00000419502 ENST00000416557
    ENST00000414078(uc003kwd.1) ENST00000441995(uc003kwc.1)
    miRNA
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    8/91 QIAGEN miScript miRNA Assays for microRNAs that regulate ACSL6 (see all 91):
    hsa-miR-548j hsa-miR-140-5p hsa-miR-579 hsa-miR-520e hsa-miR-3653 hsa-miR-374a hsa-miR-3613-3p hsa-miR-548a-5p
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    Additional mRNA sequence: 

    AB020644.1 AF102845.1 AF129166.1 AK122702.1 AK294291.1 AK314452.1 AL390168.1 BC026161.1 
    BC047453.1 DQ083030.1 DQ083031.1 DQ655980.2 DQ655981.2 

    14 DOTS entries:

    DT.114429  DT.97802307  DT.101979938  DT.95335733  DT.91729677  DT.100740408  DT.100745250  DT.95303299 
    DT.120830163  DT.95157759  DT.97781490  DT.100683394  DT.100717679  DT.91933626 

    24/146 AceView cDNA sequences (see all 146):

    AA707814 F10555 BM683266 R11709 BM704515 AI924268 BE326767 BM709686 
    W91993 AI658711 AA701011 BQ184700 AA243861 AA843570 N49244 CR606980 
    CR600821 AA059164 BM992189 AL557926 AL041092 BU734183 BF438057 AK122702 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ACSL6    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b
    SP1:                                                                    -     -                                                                           
    SP2:                                                              -           -                                                                           
    SP3:        -                                                     -     -     -     -                                                                     
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for ACSL6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACSL6 expression in normal human tissues (normalized intensities)      ACSL6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ACSL6 Expression
    About this image


    ACSL6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Cerebral Cortex
             cerebellum   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Retina
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See ACSL6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACSL6

    SOURCE GeneReport for Unigene cluster: Hs.14945

    UniProtKB/Swiss-Prot: ACSL6_HUMAN, Q9UKU0
    Tissue specificity: Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood
    cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain

        SABiosciences Expression via Pathway-Focused PCR Array including ACSL6: 
              Fatty Acid Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ACSL6 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acsl61 , 5 acyl-CoA synthetase long-chain family member 61, 5 88.41(n)1
    91.55(a)1
      11 (32.13 cM)5
    2167391  NM_001033597.11  NP_001028769.11 
     543037985 
    chicken
    (Gallus gallus)
    Aves ACSL61 acyl-CoA synthetase long-chain family member 6 77.81(n)
    85.73(a)
      416324  XM_414641.3  XP_414641.3 
    lizard
    (Anolis carolinensis)
    Reptilia ACSL66
    acyl-CoA synthetase long-chain family member 6
    83(a)
    1 ↔ 1
    2(128403831-128476847)
    zebrafish
    (Danio rerio)
    Actinopterygii acsl61 acyl-CoA synthetase long-chain family member 6 70.59(n)
    75.52(a)
      566863  XM_001920904.4  XP_001920939.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG39616
    --
    48(a)
    1 → many
    3L(18871350-18883583)
    worm
    (Caenorhabditis elegans)
    Secernentea acs-136
    acs-56
    (see all 3)
    Protein ACS-5
    (see all 3)
    45(a)
    44(a)
    (see all 3)
    many → 1
    possible ortholog
    (see all 3)
    I(511048-516456)
    III(13540138-13543534)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAA26
    Medium chain fatty acyl-CoA synthetase, activates ...
    30(a)
    1 → many
    V(184541-186775)
    rice
    (Oryza sativa)
    Liliopsida AK065216.12   -- 73.59(n)    AK065216.1 


    ENSEMBL Gene Tree for ACSL6 (if available)
    TreeFam Gene Tree for ACSL6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACSL6 gene
    ACSBG12  ACSBG22  ACSL12  ACSL52  
    6 SIMAP similar genes for ACSL6 using alignment to 10 protein entries:     ACSL6_HUMAN (see all proteins):
    ACSL5    FACL5    ACSL1    ACSL3    ACSL4    FACL4

    ACSL6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1174 SNPs in ACSL6 are shown (see all 1174)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1450194881,2
    C--126480132(+) GCCAC-/CGCGCCC 6 -- ut310--------
    rs597487171,2
    C--126509594(+) AAAAA-/CAAAAA 6 -- int10--------
    rs29405631,2
    --126509595(-) tttttG/Tttttt 6 -- int1 trp30--------
    rs39913111,2
    C--126513529(-) GGGTGA/CCCTCC 6 -- int11Minor allele frequency- C:0.00NA 2
    rs670602411,2
    C--126513529(+) GGAGG-/TCACCC 6 -- int11Minor allele frequency- T:0.00CSA 2
    rs1152229861,2
    C--126513530(+) GAGGTC/GACCCA 6 -- int10--------
    rs58714391,2
    C--126519075(+) CCACA-/CCCCCC 6 -- int12Minor allele frequency- C:0.00NA CSA 4
    rs2013770121,2
    --126519081(+) CCCCCC/TCCACA 6 -- int10--------
    rs105505371,2
    C--131287570(+) accgc-/GCccAGC 6 -- ut310--------
    rs340198731,2
    C--131312238(+) AAAAA-/AAAAGA 6 -- int10--------

    HapMap Linkage Disequilibrium report for ACSL6 (131142683 - 131347936 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ACSL6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv272200CNV Insertion20981092
    esv25745CNV Gain19812545

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ACSL6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604443    OMIM disorders: --

    UniProtKB/Swiss-Prot: ACSL6_HUMAN, Q9UKU0
  • Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia.
    Translocation t(5;12)(q31;p13) with ETV6
  • Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with
    eosinophilia. Translocation t(5;12)(q31;p13) with ETV6
  • Note=A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL).
    Translocation t(5;12)(q31;p13) with ETV6

  • 13 diseases for ACSL6:    About MalaCards
    gestational choriocarcinoma    eosinophilia    myelodysplastic syndromes    polycythemia vera
    premature ovarian failure    polycythemia    choriocarcinoma    leukemia
    schizophrenia    crohn's disease    hypoxia    neuronitis
    prostatitis


    ACSL6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ACSL6
    Human Genome Epidemiology (HuGE) Navigator: ACSL6 (7 documents)

    Export disorders for ACSL6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACSL6 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with ACSL6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13). (PubMed id 10502316)1, 2, 3, 9 Yagasaki F.... Hirashima K. (1999)
    2. Identification and molecular characterization of acyl-CoA synthetase in human red cells and erythroid precursor. (PubMed id 10548543)1, 2, 3, 9 Malhotra K.T.... Kuypers F.A. (1999)
    3. Acyl-CoA synthetase long-chain family member 6 is associated with premature ovarian failure. (PubMed id 18555221)1, 4, 9 Kang H....Kwack K. (2009)
    4. Multiple erythroid isoforms of human long-chain acyl-CoA synthetases are produced by switch of the fatty acid gate domains. (PubMed id 16834775)1, 2, 9 Soupene E. and Kuypers F.A. (2006)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Association of haplotypes spanning PDZ-GEF2, LOC728637 and ACSL6 with schizophrenia in Han Chinese. (PubMed id 18718982)1, 4 Luo X.J....Su B. (2008)
    7. Interaction between interleukin 3 and dystrobrevin-binding protein 1 in schizophrenia. (PubMed id 18804346)1, 4 Edwards T.L....Chen X. (2008)
    8. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (2008)
    9. DNA pooling: a comprehensive, multi-stage association analysis of ACSL6 and SIRT5 polymorphisms in schizophrenia. (PubMed id 16827919)1, 4 Chowdari K.V....Nimgaonkar V.L. (2007)
    10. Haplotypes spanning SPEC2, PDZ-GEF2 and ACSL6 genes are associated with schizophrenia. (PubMed id 17030554)1, 4 Chen X.... Kendler K.S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23305 HGNC: 16496 AceView: ACSL6 Ensembl:ENSG00000164398 euGenes: HUgn23305
    ECgene: ACSL6 Kegg: 23305 H-InvDB: ACSL6

    (According to HUGE)
    About This Section
    HUGE: KIAA0837

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACSL6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ACSL6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACSL6 gene:
    Search GeneIP for patents involving ACSL6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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