1. Gene
  2. ACAT2 - acetyl-CoA acetyltransferase 2 Gene

ACAT2 - acetyl-CoA acetyltransferase 2 Gene

中文名称:乙酰辅酶 A 乙酰转移酶 2

种属: Homo sapiens

基因 ID: 39 | 基因类型: protein coding

关于 ACAT2

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:159,762,045-159,779,112 (from NCBI)

This gene has 3 transcripts (splice variants), 214 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 42.3), brain (RPKM 30.7) and 24 other tissues.

功能概要

该基因的产物是一种参与脂质代谢的酶,它编码胞质乙酰乙酰辅酶 A 硫解酶。该基因显示与小鼠和人类 TCP1 基因的 3-prime 区域互补重叠。这些基因编码在相反的 DNA 链上,并且转录方向相反。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2014 年 12 月]

The product of this gene is an Enzyme involved in lipid metabolism, and it encodes cytosolic acetoacetyl-CoA thiolase. This gene shows complementary overlapping with the 3-prime region of the TCP1 gene in both mouse and human. These genes are encoded on opposite strands of DNA, as well as in opposite transcriptional orientation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

ACAT2 基因产物(2)

mRNA Protein Name
NM_005891.3 NP_005882.2 acetyl-CoA acetyltransferase, cytosolic isoform 1
NM_001303253.1 NP_001290182.1 acetyl-CoA acetyltransferase, cytosolic isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables acetyl-CoA C-acetyltransferase activity IDA
IDA: 通过直接分析推断
7911016 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 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
7911016 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

ACAT2 蛋白结构

Thiolase_N

Thiolase_N: Thiolase, N-terminal domain (7 - 267)

Thiolase_C

Thiolase_C: Thiolase, C-terminal domain (274 - 396)

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

acetyl-CoA acetyltransferase, cytosolic

acetoacetyl Coenzyme A thiolase

acetyl-CoA transferase-like protein

cytosolic acetoacetyl-CoA thiolase

ACAT2 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
ACAT2 Q9BWD1 WWOX Homo sapiens Q9NZC7-5
Validated Y2H
32296183
种属内
ACAT2 Q9BWD1 TERF1 Homo sapiens P54274
Pull Down
21044950
种属内
ACAT2 Q9BWD1 LNX1 Homo sapiens Q8TBB1
Y2H Prey Pooling
25416956
种属内
ACAT2 Q9BWD1 LNX1 Homo sapiens Q8TBB1
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 ACAT2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71041 ACAT2 Protein, Human (Trx-His) Q9BWD1 (M1-E397) ≥95%

关联疾病

疾病名称 别名
Fetal Akinesia Deformation Sequence 1

Fetal Akinesia Deformation Sequence

Fads

Fetal Akinesia Sequence

FADS1

Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

Pena-Shokeir Syndrome Type 1

Fetal Akinesia Deformation Sequence Syndrome

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Pena-Shokeir Syndrome, Type I

Foetal Akinesia Deformation Sequence Syndrome

Foetal Akinesia Sequence

Fetal Akinesia Deformation Sequence Syndrome 1

Pena-Shokeir Syndrome, Type 1

Pena Shokeir Syndrome, Type 1

Akinesia, Fetal, Deformation Sequence

Akinesia, Fetal, Deformation Sequence, Type 1

Pena-Shokeir Syndrome Type I

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency

3-Ketothiolase Deficiency

3-Oxothiolase Deficiency

Mitochondrial Acetoacetyl-Coa Thiolase Deficiency

Alpha-Methylacetoaceticaciduria

Mat Deficiency

T2 Deficiency

2-Methyl-3-Hydroxybutyricacidemia

Beta Ketothiolase Deficiency

Pseudo-Zellweger Syndrome

2-Methyl-3-Hydroxybutyric Acidemia

3-Ktd Deficiency

Peroxisomal Thiolase Deficiency

2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency

3-Alpha-Oxothiolase Deficiency

Methylacetoacetyl-Coenzyme A Thiolase Deficiency

Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated

Β-Ketothiolase Deficiency

Alpha Methylacetoacetic Aciduria

Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency

Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency

3KTD

Aciduria, Alpha-Methylacetoacetic

Deficiency Of Acetyl-Coa Acetyltransferase

Deficiency Of Acetyl-Coa Acyltransferase

Hepatic Methionine Adenosyltransferase Deficiency

Bifunctional Peroxisomal Enzyme Deficiency

Acetyl-Coa Acetyltransferase-2 Deficiency

ACAT2D

Acat2 Deficiency

Acetyl Coa Acetyltransferase 2 Deficiency

Acat2

Acetoacetyl Coa Thiolase, Cytosolic

Acetocoenzyme A Acetyltransferase 2

Cytosolic Acetoacetyl-Coa Thiolase Deficiency

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 ACAT2 VGNC VGNC:69059
Bos taurus ACAT2 VGNC VGNC:25530
Rattus norvegicus ACAT2 RGD RGD:1359366
Canis familiaris ACAT2 VGNC VGNC:37499
Others ACAT2 NCBI