1. Gene
  2. ACSL3 - acyl-CoA synthetase long chain family member 3 Gene

ACSL3 - acyl-CoA synthetase long chain family member 3 Gene

中文名称:酰基辅酶 A 合成酶长链家族成员 3

种属: Homo sapiens

同用名: ACS3; FACL3; LACS3; LACS 3; PRO2194

基因 ID: 2181 | 基因类型: protein coding

关于 ACSL3

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:222,861,036-222,944,639 (from NCBI)

This gene has 36 transcripts (splice variants), 248 orthologues, 12 paralogues and is associated with 62 phenotypes. Ubiquitous expression in prostate (RPKM 44.8), brain (RPKM 31.0) and 24 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。该同功酶在脑中高度表达,优先利用肉豆蔻酸、花生四烯酸和二十碳五烯酸作为底物。该同工酶的氨基酸序列与大鼠同源物的氨基酸序列有 92% 的同一性。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供,2008 年 7 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. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

ACSL3 基因产物(4)

mRNA Protein Name
NM_001354158.2 NP_001341087.1 fatty acid CoA ligase Acsl3
NM_001354159.2 NP_001341088.1 fatty acid CoA ligase Acsl3
NM_004457.5 NP_004448.2 fatty acid CoA ligase Acsl3
NM_203372.3 NP_976251.1 fatty acid CoA ligase Acsl3
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 IMP
IMP: 通过突变表型推断
20219900 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29549094 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
20605918 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
20605918 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
20605918 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
14741744 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
14741744 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
14741744 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

ACSL3 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (126 - 586)

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

fatty acid CoA ligase Acsl3

arachidonate--CoA ligase

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome

MRD38

Prelds

Autosomal Dominant Non-Syndromic Intellectual Disability 38

Mental Retardation, Autosomal Dominant 38

Autosomal Dominant Intellectual Developmental Disorder 38

Autosomal Dominant Mental Retardation 38

Mental Retardation, Autosomal Dominant, Type 38

Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

Non-Syndromic X-Linked Intellectual Disability 63

Acsl4-Related Intellectual Disability

Mrx63

Mrx68

X-Linked Mental Retardation 68

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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
Felis catus ACSL3 VGNC VGNC:59535
Macaca mulatta ACSL3 VGNC VGNC:69565
Canis familiaris ACSL3 VGNC VGNC:37533
Rattus norvegicus ACSL3 RGD RGD:70552
Bos taurus ACSL3 VGNC VGNC:25565
Mus musculus ACSL3 MGD MGI:1921455
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