ACSL6 - acyl-CoA synthetase long chain family member 6 Gene

Also Known as ACS2; FACL6; LACS2; LACS5; LACS 6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23305

About ACSL6

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:131,949,973-132,012,068 (from NCBI)

This gene has 34 transcripts (splice variants), 472 orthologues, 12 paralogues and is associated with 73 phenotypes. Biased expression in brain (RPKM 19.2), testis (RPKM 8.4) and 5 other tissues.

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]

ACSL6 Products (22)

mRNA Protein Name
NM_001009185.3 NP_001009185.1 long-chain-fatty-acid--CoA ligase 6 isoform b
NM_001205247.2 NP_001192176.1 long-chain-fatty-acid--CoA ligase 6 isoform c
NM_001205248.2 NP_001192177.1 long-chain-fatty-acid--CoA ligase 6 isoform d
NM_001205250.1 NP_001192179.1 long-chain-fatty-acid--CoA ligase 6 isoform e
NM_001205251.2 NP_001192180.1 long-chain-fatty-acid--CoA ligase 6 isoform f
NM_001405475.1 NP_001392404.1 long-chain-fatty-acid--CoA ligase 6 isoform g
NM_001405476.1 NP_001392405.1 long-chain-fatty-acid--CoA ligase 6 isoform h
NM_001405477.1 NP_001392406.1 long-chain-fatty-acid--CoA ligase 6 isoform i
NM_001405478.1 NP_001392407.1 long-chain-fatty-acid--CoA ligase 6 isoform j
NM_001405479.1 NP_001392408.1 long-chain-fatty-acid--CoA ligase 6 isoform k
NM_001405480.1 NP_001392409.1 long-chain-fatty-acid--CoA ligase 6 isoform k
NM_001405481.1 NP_001392410.1 long-chain-fatty-acid--CoA ligase 6 isoform d
NM_001405482.1 NP_001392411.1 long-chain-fatty-acid--CoA ligase 6 isoform k
NM_001405483.1 NP_001392412.1 long-chain-fatty-acid--CoA ligase 6 isoform k
NM_001405484.1 NP_001392413.1 long-chain-fatty-acid--CoA ligase 6 isoform d
NM_001405485.1 NP_001392414.1 long-chain-fatty-acid--CoA ligase 6 isoform l
NM_001405486.1 NP_001392415.1 long-chain-fatty-acid--CoA ligase 6 isoform m
NM_001405487.1 NP_001392416.1 long-chain-fatty-acid--CoA ligase 6 isoform n
NM_001405488.1 NP_001392417.1 long-chain-fatty-acid--CoA ligase 6 isoform n
NM_001405489.1 NP_001392418.1 long-chain-fatty-acid--CoA ligase 6 isoform o
NM_001405490.1 NP_001392419.1 long-chain-fatty-acid--CoA ligase 6 isoform f
NM_015256.4 NP_056071.2 long-chain-fatty-acid--CoA ligase 6 isoform a
Molecular Function GO Annotation Evidence Références Source
enables enzyme binding IPI
IPI: Inferred from physical interaction
20429931 GOA
enables long-chain fatty acid-CoA ligase activity IDA
IDA: Inferred from direct assay
20429931 GOA
enables long-chain fatty acid-CoA ligase activity IMP
IMP: Inferred from mutant phenotype
22633490 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
20429931 GOA
Biological Process GO Annotation Evidence Références Source
involved in long-chain fatty acid metabolic process IDA
IDA: Inferred from direct assay
20429931 GOA
involved in long-chain fatty acid metabolic process IMP
IMP: Inferred from mutant phenotype
22633490 GOA
Cellular Component GO Annotation Evidence Références Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
24269233 GOA
located in membrane IDA
IDA: Inferred from direct assay
16834775 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

ACSL6 Protein Structure

AMP-binding

AMP-binding: AMP-binding enzyme (116 - 562)

  • 0
  • 200
  • 400
  • 600
  • 697 a.a.
Protein Preferred Names Protein Names

long-chain-fatty-acid--CoA ligase 6

  • arachidonate--CoA ligase

Related Diseases

Diseases Alias
Myelodysplastic Syndrome
  • Myelodysplastic Syndromes

  • Myelodysplasia

  • MDS

  • Myelodysplastic Syndrome Included

  • Myelodysplastic Syndrome, Susceptibility To, Included

  • Myelodysplastic Syndrome, Somatic

  • Myelodysplastic Syndrome, Susceptibility To

Her2-Receptor Negative Breast Cancer
Chronic Eosinophilic Leukemia
  • Pdgfra-Associated Chronic Eosinophilic Leukemia

Fetal Akinesia Deformation Sequence 1
  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I

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

Orthologs Information

Species Symbol Source ID
Mus musculus ACSL6 MGD MGI:894291
Felis catus ACSL6 VGNC VGNC:102151
Rattus norvegicus ACSL6 RGD RGD:69403
Bos taurus ACSL6 VGNC VGNC:55153
Canis familiaris ACSL6 VGNC VGNC:51694
Others ACSL6 NCBI