2. Gene
  3. ACSL4 - acyl-CoA synthetase long chain family member 4 Gene

ACSL4 - acyl-CoA synthetase long chain family member 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：酰基辅酶 A 合成酶长链家族成员 4

种属: Homo sapiens

同用名: ACS4; FACL4; LACS4; MRX63; MRX68; XLID63

基因 ID: 2182 | 基因类型: protein coding

关于 ACSL4

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:109,641,335-109,733,257 (from NCBI)

This gene has 18 transcripts (splice variants), 271 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 24.5), appendix (RPKM 24.0) and 25 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。该同工酶优先利用花生四烯酸作为底物。缺乏这种酶可能会导致认知障碍或 Alport 综合征。该基因的选择性剪接会产生多个转录本变体。[RefSeq 提供，2016 年 1 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 preferentially utilizes arachidonate as substrate. The absence of this Enzyme may contribute to the cognitive disability or Alport syndrome. Alternative splicing of this gene generates multiple transcript variants. [provided by RefSeq, Jan 2016]

ACSL4 基因产物(4)

mRNA Protein Name
NM_001318509.2 NP_001305438.1 long-chain-fatty-acid--CoA ligase 4 isoform 2
NM_001318510.2 NP_001305439.1 long-chain-fatty-acid--CoA ligase 4 isoform 1
NM_004458.3 NP_004449.1 long-chain-fatty-acid--CoA ligase 4 isoform 1
NM_022977.3 NP_075266.1 long-chain-fatty-acid--CoA ligase 4 isoform 2
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 arachidonate-CoA ligase activity IDA
IDA: 通过直接分析推断
9598324 GOA
enables long-chain fatty acid-CoA ligase activity EXP
EXP: 通过实验结果推断
11889465 GOA
enables long-chain fatty acid-CoA ligase activity IDA
IDA: 通过直接分析推断
10669417 GOA
enables long-chain fatty acid-CoA ligase activity IMP
IMP: 通过突变表型推断
22633490 GOA
enables very long-chain fatty acid-CoA ligase activity IMP
IMP: 通过突变表型推断
11889465 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid biosynthetic process IDA
IDA: 通过直接分析推断
21242590 GOA
involved in lipid metabolic process IDA
IDA: 通过直接分析推断
9598324 GOA
involved in long-chain fatty acid metabolic process IDA
IDA: 通过直接分析推断
24269233 GOA
involved in long-chain fatty acid metabolic process IMP
IMP: 通过突变表型推断
22633490 GOA
involved in negative regulation of prostaglandin secretion IDA
IDA: 通过直接分析推断
21242590 GOA
involved in positive regulation of cell growth IDA
IDA: 通过直接分析推断
17934335 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11889465 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
24269233 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
14741744 GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site IDA
IDA: 通过直接分析推断
23455425 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
24269233 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

ACSL4 蛋白结构

AMP-binding

AMP-binding: AMP-binding enzyme (108 - 577)

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

long-chain-fatty-acid--CoA ligase 4

acyl-CoA synthetase 4

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked 63

XLID63

Mrx63

Mental Retardation, X-Linked 68

Mrx68
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident
Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

ATS-MR

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Chromosome Xq22.3 Telomeric Deletion Syndrome

Amme Syndrome

Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary
Non-Syndromic X-Linked Intellectual Disability 63

Acsl4-Related Intellectual Disability

Mrx63

Mrx68

X-Linked Mental Retardation 68
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability
Her2-Receptor Negative Breast Cancer
Colon Adenocarcinoma

Adenocarcinoma Of Colon

Adenocarcinoma Of The Colon

Colonic Adenocarcinoma
Non-Syndromic X-Linked Intellectual Disability 30

Mrx30

Mrx47

X-Linked Mental Retardation 30/47

X-Linked Mental Retardation 47

Mental Retardation, X-Linked, Type 30/47
Hereditary Elliptocytosis

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia
Her2-Receptor Positive Breast Cancer
Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Hypotonia
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

相关产品

Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-139180 PRGL493 Inhibitor 99.64% 否
HY-RS16244 Acsl4 Rat Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS00202 ACSL4 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-155851 Lepadin E / 否
HY-155852 Lepadin H Inducer / 否
HY-115701 1-Stearoyl-2-15(S)-Hpete-Sn-Glycero-3-Pe / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ACSL4 RGD RGD:69401
Felis catus ACSL4 VGNC VGNC:59536
Bos taurus ACSL4 VGNC VGNC:25566
Macaca mulatta ACSL4 VGNC VGNC:69566
Mus musculus ACSL4 MGD MGI:1354713
Canis familiaris ACSL4 VGNC VGNC:37534
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