1. Gene
  2. ACSL6 - acyl-CoA synthetase long chain family member 6 Gene

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

中文名称:酰基辅酶 A 合成酶长链家族成员 6

种属: Homo sapiens

同用名: ACS2; FACL6; LACS2; LACS5; LACS 6

基因 ID: 23305 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质以镁为辅因子,催化脂肪酸、ATP 和 CoA 形成酰基辅酶 A。编码的蛋白质在大脑中的脂肪酸代谢中起着重要作用。 ETV6 基因的易位是骨髓增生异常综合征伴嗜碱性粒细胞增多、急性髓性白血病伴嗜酸性粒细胞增多和急性嗜酸性粒细胞白血病的原因。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2011 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
20429931 GOA
enables long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
20429931 GOA
enables long-chain fatty acid-CoA ligase activity IMP
IMP: 通过突变表型推断
22633490 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
20429931 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
20429931 GOA
involved in long-chain fatty acid metabolic process IMP
IMP: 通过突变表型推断
22633490 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
24269233 GOA
located in membrane IDA
IDA: 通过直接分析推断
16834775 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ACSL6 蛋白结构

AMP-binding

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

  • 0
  • 200
  • 400
  • 600
  • 697 a.a.
蛋白主名 其他名称

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

arachidonate--CoA ligase

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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