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

Gene ID: 23305, updated on 13-Feb-2019

Summary

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 MIM:604443
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]
Expression
Biased expression in brain (RPKM 19.2), testis (RPKM 8.4) and 5 other tissues See more
Orthologs

Genomic context

See ACSL6 in Genome Data Viewer
Location:
5q31.1
Exon count:
23
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 ACTB pseudogene 4 Neighboring gene meiotic kinetochore factor Neighboring gene uncharacterized LOC101927693 Neighboring gene uncharacterized LOC105379174 Neighboring gene enhancer-blocking elements downstream of IL3 Neighboring gene interleukin 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
decanoate-CoA ligase activity IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid-CoA ligase activity NAS
Non-traceable Author Statement
more info
PubMed 
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 IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty-acyl-CoA biosynthetic process TAS
Traceable Author Statement
more info
 
neuroblast proliferation IEA
Inferred from Electronic Annotation
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
 
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 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_028290.2 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
    ENSP00000368566.2, ENST00000379264.6
    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
    ENSP00000368546.1, ENST00000379244.5
    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
    ENSP00000368548.1, ENST00000379246.5
    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
    ENSP00000349608.1, ENST00000357096.5
    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_015256.4NP_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
    ENSP00000296869.4, ENST00000296869.8
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

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