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ACSL6 acyl-CoA synthetase long-chain family member 6 [ Homo sapiens (human) ]

Gene ID: 23305, updated on 12-May-2016
Official Symbol
ACSL6provided by HGNC
Official Full Name
acyl-CoA synthetase long-chain family member 6provided by HGNC
Primary source
HGNC:HGNC:16496
See related
Ensembl:ENSG00000164398 Ensembl:ENSG00000281938 HPRD:09190; MIM:604443; Vega:OTTHUMG00000150692
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACS2; FACL6; LACS2; LACS5; LACS 6
Summary
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]
Orthologs
Location:
5q31.1
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (131949973..132012068, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131285666..131347761, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene folliculin interacting protein 1 Neighboring gene actin, beta pseudogene 4 Neighboring gene meiotic kinetochore factor Neighboring gene uncharacterized LOC101927693 Neighboring gene uncharacterized LOC105379174 Neighboring gene interleukin 3 Neighboring gene colony stimulating factor 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
Knockdown of acyl-CoA synthetase long-chain family member 6 (ACSL6) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: MEIKIN

Homology

Clone Names

  • FLJ16173, KIAA0837, DKFZp547D104

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
long-chain fatty acid-CoA ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid-CoA ligase activity NAS
Non-traceable Author Statement
more info
PubMed 
long-chain fatty acid-CoA ligase activity TAS
Traceable Author Statement
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acyl-CoA metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
long-chain fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IEA
Inferred from Electronic Annotation
more info
 
peroxisomal membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
long-chain-fatty-acid--CoA ligase 6
Names
fatty-acid-Coenzyme A ligase, long-chain 6
long fatty acyl-CoA synthetase 2
NP_001009185.1
NP_001192176.1
NP_001192177.1
NP_001192179.1
NP_001192180.1
NP_056071.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028290.1 RefSeqGene

    Range
    5001..67096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001009185.2NP_001009185.1  long-chain-fatty-acid--CoA ligase 6 isoform b

    See identical proteins and their annotated locations for NP_001009185.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents one of the two longest transcripts and encodes one of the two longest isoforms (b).
    Source sequence(s)
    AB020644, AC034228, BM992189, DA200154
    Consensus CDS
    CCDS34229.1
    UniProtKB/Swiss-Prot
    Q9UKU0
    Related
    ENSP00000368566, OTTHUMP00000065952, ENST00000379264, OTTHUMT00000132619
    Conserved Domains (2) summary
    PLN02736
    Location:97719
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:141718
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
  2. NM_001205247.1NP_001192176.1  long-chain-fatty-acid--CoA ligase 6 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but lacks an internal segment compared to isoform a.
    Source sequence(s)
    AB020644, AC034228, AK294291, BM992189, DA200154
    UniProtKB/Swiss-Prot
    Q9UKU0
    UniProtKB/TrEMBL
    B4DFW3
    Conserved Domains (2) summary
    PLN02736
    Location:62684
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:106683
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
  3. NM_001205248.1NP_001192177.1  long-chain-fatty-acid--CoA ligase 6 isoform d

    See identical proteins and their annotated locations for NP_001192177.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AB020644, AC034228, AK314452, BI464352, BM992189, DB461818
    Consensus CDS
    CCDS56381.1
    UniProtKB/Swiss-Prot
    Q9UKU0
    UniProtKB/TrEMBL
    B2RB13
    Related
    ENSP00000368546, OTTHUMP00000065957, ENST00000379244, OTTHUMT00000132626
    Conserved Domains (2) summary
    PLN02736
    Location:72694
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:116693
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
  4. NM_001205250.1NP_001192179.1  long-chain-fatty-acid--CoA ligase 6 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AB020644, AC034228, BM992189, DA801862
    Consensus CDS
    CCDS56383.1
    UniProtKB/Swiss-Prot
    Q9UKU0
    Related
    ENSP00000368548, OTTHUMP00000065953, ENST00000379246, OTTHUMT00000132620
    Conserved Domains (2) summary
    PLN02736
    Location:83705
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:127704
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
  5. NM_001205251.1NP_001192180.1  long-chain-fatty-acid--CoA ligase 6 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence and lacks two alternate in-frame coding sequences compared to variant 1. The resulting isoform (f) is shorter at the N-terminus and lacks two internal segments compared to isoform a.
    Source sequence(s)
    AC034228, AK314452, BC047453, BI464352, BM992189, DB461818
    Consensus CDS
    CCDS56382.1
    UniProtKB/Swiss-Prot
    Q9UKU0
    UniProtKB/TrEMBL
    B2RB13
    Related
    ENSP00000349608, ENST00000357096
    Conserved Domains (2) summary
    PLN02736
    Location:37619
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:81618
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)
  6. NM_015256.3NP_056071.2  long-chain-fatty-acid--CoA ligase 6 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents one of the two longest transcripts and encodes one of the two longest isoforms (a).
    Source sequence(s)
    AB020644, AC034228, AK294291, BM992189, DA200154
    Consensus CDS
    CCDS34228.1
    UniProtKB/Swiss-Prot
    Q9UKU0
    UniProtKB/TrEMBL
    B4DFW3
    Related
    ENSP00000296869, OTTHUMP00000065958, ENST00000296869, OTTHUMT00000132627
    Conserved Domains (2) summary
    PLN02736
    Location:97719
    PLN02736; long-chain acyl-CoA synthetase
    cd05927
    Location:141718
    LC-FACS_euk; Eukaryotic long-chain fatty acid CoA synthetase (LC-FACS)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    131949973..132012068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    130718510..130780578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)