1. Gene
  2. ECI2 - enoyl-CoA delta isomerase 2 Gene

ECI2 - enoyl-CoA delta isomerase 2 Gene

中文名称:烯酰辅酶 A δ 异构酶 2

种属: Homo sapiens

同用名: DRS1; PECI; ACBD2; DRS-1; HCA88; dJ1013A10.3

基因 ID: 10455 | 基因类型: protein coding

关于 ECI2

Cytogenetic location: 6p25.2 Genomic coordinates (GRCh38): 6:4,115,706-4,135,575 (from NCBI)

This gene has 11 transcripts (splice variants), 227 orthologues and 4 paralogues. Ubiquitous expression in liver (RPKM 93.4), kidney (RPKM 88.4) and 25 other tissues.

功能概要

该基因编码水合酶/异构酶超家族的一个成员。所编码的蛋白质是参与不饱和脂肪酸 β 氧化的关键线粒体酶。它催化在顺式、单和多不饱和脂肪酸逐步降解为 2-反式烯酰辅酶 A 中间体过程中产生的 3-顺式和 3-反式烯酰辅酶 A 酯的转化。已经描述了选择性剪接的转录物变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

ECI2 基因产物(3)

mRNA Protein Name
NM_001166010.2 NP_001159482.1 enoyl-CoA delta isomerase 2 isoform 1
NM_006117.3 NP_006108.2 enoyl-CoA delta isomerase 2 isoform 1
NM_206836.3 NP_996667.2 enoyl-CoA delta isomerase 2 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 delta(3)-delta(2)-enoyl-CoA isomerase activity IDA
IDA: 通过直接分析推断
10419495 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
27499296 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fatty acid catabolic process IDA
IDA: 通过直接分析推断
10419495 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in peroxisomal matrix IDA
IDA: 通过直接分析推断
10419495 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

ECI2 蛋白结构

ACBP

ACBP: Acyl CoA binding protein (40 - 121)

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (145 - 388)

  • 0
  • 100
  • 200
  • 300
  • 394 a.a.
蛋白主名 其他名称

enoyl-CoA delta isomerase 2

D3,D2-enoyl-CoA isomerase

ECI2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ECI2 O75521 TNPO3 Homo sapiens Q9Y5L0 32296183
种属内
ECI2 O75521 ECH1 Homo sapiens Q13011 33961781
种属内
ECI2 O75521 ECH1 Homo sapiens Q13011 27499296
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Retinal Dystrophy With Leukodystrophy

RDLKD

Acbd5 Deficiency

Dystrophy, Retinal, With Leukodystrophy

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

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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 ECI2 VGNC VGNC:61710
Bos taurus ECI2 VGNC VGNC:28310
Rattus norvegicus ECI2 RGD RGD:1359427
Macaca mulatta ECI2 VGNC VGNC:72048
Mus musculus ECI2 MGD MGI:1346064
Canis familiaris ECI2 VGNC VGNC:40186