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

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of long-chain fatty acid import into cell	IDA IDA: 通过直接分析推断	20219900	GOA
involved in long-chain fatty acid metabolic process	IMP IMP: 通过突变表型推断	22633490	GOA
involved in positive regulation of Golgi to plasma membrane protein transport	IMP IMP: 通过突变表型推断	20605918	GOA
involved in positive regulation of phosphatidylcholine biosynthetic process	IMP IMP: 通过突变表型推断	18003621	GOA
involved in positive regulation of secretion	IMP IMP: 通过突变表型推断	18003621	GOA
involved in very-low-density lipoprotein particle assembly	IMP IMP: 通过突变表型推断	18003621	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

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

Cat. No.	产品名	作用方式 Pre-designed Sets	纯度	是否罕见病否
HY-RS00201	ACSL3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

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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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 ACSL3

功能概要

ACSL3 基因产物(4)

ACSL3 蛋白结构

关联疾病

直系同源

热门区域

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

关于 ACSL3

功能概要

ACSL3 基因产物(4)

ACSL3 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z