2. Gene
  3. ACAT1 - acetyl-CoA acetyltransferase 1 Gene

ACAT1 - acetyl-CoA acetyltransferase 1 Gene

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

中文名称：乙酰辅酶 A 乙酰转移酶 1

种属: Homo sapiens

同用名: T2; MAT; ACAT; THIL

基因 ID: 38 | 基因类型: protein coding

关于 ACAT1

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:108,116,705-108,147,603 (from NCBI)

This gene has 22 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in liver (RPKM 166.9), kidney (RPKM 164.2) and 24 other tissues.

功能概要

该基因编码一种线粒体定位酶，该酶催化两个乙酰辅酶 A 分子可逆地形成乙酰乙酰辅酶 A。该基因的缺陷与 3-酮硫解酶缺乏症有关，这是异亮氨酸分解代谢的先天性错误，其特征是 2-甲基-3-羟基丁酸、2-甲基乙酰乙酸、二甘氨酸和丁酮从尿中排泄。[RefSeq 提供，2009 年 2 月]

This gene encodes a mitochondrially localized Enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

ACAT1 基因产物(15)

mRNA Protein Name
NM_001386677.1 NP_001373606.1 acetyl-CoA acetyltransferase, mitochondrial isoform a precursor
NM_001386687.1 NP_001373616.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386690.1 NP_001373619.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386679.1 NP_001373608.1 acetyl-CoA acetyltransferase, mitochondrial isoform d
NM_000019.4 NP_000010.1 acetyl-CoA acetyltransferase, mitochondrial isoform b precursor
NM_001386688.1 NP_001373617.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386686.1 NP_001373615.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386678.1 NP_001373607.1 acetyl-CoA acetyltransferase, mitochondrial isoform c
NR_170163.1
NR_170162.1
NM_001386685.1 NP_001373614.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386689.1 NP_001373618.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386682.1 NP_001373611.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386691.1 NP_001373620.1 acetyl-CoA acetyltransferase, mitochondrial isoform e
NM_001386681.1 NP_001373610.1 acetyl-CoA acetyltransferase, mitochondrial isoform e

ACAT1 蛋白结构

Thiolase_N

Thiolase_N: Thiolase, N-terminal domain (40 - 298)

Thiolase_C

Thiolase_C: Thiolase, C-terminal domain (307 - 426)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 427 a.a.
蛋白主名 其他名称

acetyl-CoA acetyltransferase, mitochondrial

acetoacetyl Coenzyme A thiolase

acetoacetyl-CoA thiolase

acetyl-Coenzyme A acetyltransferase 1

mitochondrial acetoacetyl-CoA thiolase

testicular tissue protein Li 198

重组 ACAT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78986 ACAT1 Protein, Human (His) P24752-1 (V34-L427) ≥95%

关联疾病

疾病名称 别名
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
Ataxia-Telangiectasia

Ataxia Telangiectasia

Louis-Bar Syndrome

AT

At1

Ataxia-Telangiectasia Syndrome

Ataxia - Telangiectasia Variant

Boder-Sedgwick Syndrome

Louis Bar Syndrome

Cerebello-Oculocutaneous Telangiectasia

Immunodeficiency With Ataxia Telangiectasia

A-T

Ataxia Telangiectasia Syndrome

Atm

Telangiectasia, Cerebello-Oculocutaneous

Ataxia-Telangiectasia Variant
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

Clinical Phase
生物活性分子 (6)
目录号 产品名 作用方式
纯度 Phase
HY-13215 Avasimibe Inhibitor 99.85% Phase 3
HY-100401A Pactimibe sulfate Inhibitor ≥98.0% Phase 3
HY-100401 Pactimibe Inhibitor 99.98% Phase 3
HY-100400A K-604 dihydrochloride Inhibitor ≥99.0% Phase 2
HY-100399A Nevanimibe hydrochloride Inhibitor 99.92% Phase 2
HY-100399 Nevanimibe Inhibitor / Phase 2

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus ACAT1 RGD RGD:2016
Macaca mulatta ACAT1 VGNC VGNC:69596
Felis catus ACAT1 VGNC VGNC:69007
Canis familiaris ACAT1 VGNC VGNC:37498
Mus musculus ACAT1 MGD MGI:87870
Bos taurus ACAT1 VGNC VGNC:25529
Others ACAT1 NCBI
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