2. Gene
  3. ECHDC1 - ethylmalonyl-CoA decarboxylase 1 Gene

ECHDC1 - ethylmalonyl-CoA decarboxylase 1 Gene

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

中文名称：乙基丙二酰辅酶 A 脱羧酶 1

种属: Homo sapiens

同用名: MMCD; HEL-S-76; dJ351K20.2

基因 ID: 55862 | 基因类型: protein coding

关于 ECHDC1

Cytogenetic location: 6q22.33 Genomic coordinates (GRCh38): 6:127,288,712-127,343,609 (from NCBI)

This gene has 23 transcripts (splice variants), 211 orthologues and 13 paralogues. Ubiquitous expression in fat (RPKM 43.4), kidney (RPKM 24.8) and 25 other tissues.

功能概要

预测具有羧基裂解酶活性和烯酰辅酶 A 水合酶活性。预测参与脂肪酸β-氧化。预计是膜的组成部分。预计在胞质溶胶中有活性。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable carboxy-lyase activity and enoyl-CoA hydratase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to be integral component of membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

ECHDC1 基因产物(5)

mRNA Protein Name
NM_001002030.2 NP_001002030.1 ethylmalonyl-CoA decarboxylase isoform 1
NM_001105544.2 NP_001099014.1 ethylmalonyl-CoA decarboxylase isoform 3
NM_001105545.2 NP_001099015.1 ethylmalonyl-CoA decarboxylase isoform 4
NM_001139510.2 NP_001132982.1 ethylmalonyl-CoA decarboxylase isoform 5
NM_018479.4 NP_060949.2 ethylmalonyl-CoA decarboxylase isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

ECHDC1 蛋白结构

ECH_1

ECH_1: Enoyl-CoA hydratase/isomerase (60 - 286)

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

ethylmalonyl-CoA decarboxylase

enoyl CoA hydratase domain containing 1

ECHDC1 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
ECHDC1 Q9NTX5 GORASP2 Homo sapiens Q9H8Y8
Y2H Array
32296183
种属内
ECHDC1 Q9NTX5 GORASP2 Homo sapiens Q9H8Y8
Y2H Prey Pooling
32296183
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
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04137 ECHDC1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ECHDC1 VGNC VGNC:81063
Canis familiaris ECHDC1 VGNC VGNC:40185
Mus musculus ECHDC1 MGD MGI:1277169
Bos taurus ECHDC1 VGNC VGNC:28306
Rattus norvegicus ECHDC1 RGD RGD:1359654
Felis catus ECHDC1 VGNC VGNC:97409
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