1. Gene
  2. ACSL1 - acyl-CoA synthetase long chain family member 1 Gene

ACSL1 - acyl-CoA synthetase long chain family member 1 Gene

中文名称:酰基辅酶 A 合成酶长链家族成员 1

种属: Homo sapiens

同用名: ACS1; LACS; FACL1; FACL2; LACS1; LACS2

基因 ID: 2180 | 基因类型: protein coding

关于 ACSL1

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:184,755,595-184,826,594 (from NCBI)

This gene has 16 transcripts (splice variants), 326 orthologues and 12 paralogues. Biased expression in fat (RPKM 357.3), liver (RPKM 217.4) and 10 other tissues.

功能概要

该基因编码的蛋白质是长链脂肪酸辅酶 A 连接酶家族的一种同工酶。尽管底物特异性、亚细胞定位和组织分布不同,但该家族的所有同工酶都将游离的长链脂肪酸转化为脂肪酰基辅酶 A 酯,从而在脂质生物合成和脂肪酸降解中发挥关键作用。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2013 年 11 月]

The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A Ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

ACSL1 基因产物(18)

mRNA Protein Name
NM_001286708.2 NP_001273637.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001286710.2 NP_001273639.1 long-chain-fatty-acid--CoA ligase 1 isoform b
NM_001286711.2 NP_001273640.1 long-chain-fatty-acid--CoA ligase 1 isoform c
NM_001381877.1 NP_001368806.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381878.1 NP_001368807.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381879.1 NP_001368808.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381880.1 NP_001368809.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381881.1 NP_001368810.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381882.1 NP_001368811.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381883.1 NP_001368812.1 long-chain-fatty-acid--CoA ligase 1 isoform a
NM_001381884.1 NP_001368813.1 long-chain-fatty-acid--CoA ligase 1 isoform b
NM_001381885.1 NP_001368814.1 long-chain-fatty-acid--CoA ligase 1 isoform b
NM_001381886.1 NP_001368815.1 long-chain-fatty-acid--CoA ligase 1 isoform b
NM_001381887.1 NP_001368816.1 long-chain-fatty-acid--CoA ligase 1 isoform b
NM_001381888.1 NP_001368817.1 long-chain-fatty-acid--CoA ligase 1 isoform e
NM_001381889.1 NP_001368818.1 long-chain-fatty-acid--CoA ligase 1 isoform e
NM_001381890.1 NP_001368819.1 long-chain-fatty-acid--CoA ligase 1 isoform f
NM_001995.5 NP_001986.2 long-chain-fatty-acid--CoA ligase 1 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 long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
21242590 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fatty acid transport IMP
IMP: 通过突变表型推断
32521232 GOA
involved in lipid biosynthetic process IDA
IDA: 通过直接分析推断
21242590 GOA
involved in lipid biosynthetic process IMP
IMP: 通过突变表型推断
25592151 GOA
involved in long-chain fatty acid import into cell IDA
IDA: 通过直接分析推断
22022213 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
22022213 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 mitochondrion IDA
IDA: 通过直接分析推断
22022213 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

ACSL1 蛋白结构

AMP-binding

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

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

long-chain-fatty-acid--CoA ligase 1

LACS 1

关联疾病

疾病名称 别名
Retinal Dystrophy With Leukodystrophy

RDLKD

Acbd5 Deficiency

Dystrophy, Retinal, With Leukodystrophy

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

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
Macaca mulatta ACSL1 VGNC VGNC:69564
Bos taurus ACSL1 VGNC VGNC:25564
Canis familiaris ACSL1 VGNC VGNC:37532
Felis catus ACSL1 VGNC VGNC:59534
Mus musculus ACSL1 MGD MGI:102797
Rattus norvegicus ACSL1 RGD RGD:2015
Others ACSL1 NCBI