2. Gene
  3. ACACA - acetyl-CoA carboxylase alpha Gene

ACACA - acetyl-CoA carboxylase alpha Gene

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

中文名称：乙酰辅酶 A 羧化酶 α

种属: Homo sapiens

同用名: ACC; ACAC; ACC1; ACCA; Acac1; hACC1; ACACAD; ACCalpha; ACACalpha

基因 ID: 31 | 基因类型: protein coding

关于 ACACA

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:37,084,992-37,406,836 (from NCBI)

This gene has 23 transcripts (splice variants), 1 gene allele, 205 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 9.8), brain (RPKM 9.7) and 24 other tissues.

功能概要

乙酰辅酶 A 羧化酶 (ACC) 是一种复杂的多功能酶系统。 ACC 是一种含生物素的酶，可催化乙酰辅酶 A 羧化为丙二酰辅酶 A，这是脂肪酸合成中的限速步骤。有两种 ACC 形式，alpha 和 beta，由两个不同的基因编码。 ACC-alpha 在脂肪生成组织中高度富集。该酶在转录和翻译水平上受到长期控制，并受到目标丝氨酸残基的磷酸化/去磷酸化和柠檬酸或棕榈酰辅酶 A 的变构转化的短期调节。已发现该基因的 5' 序列和编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

Acetyl-CoA Carboxylase (ACC) is a complex multifunctional Enzyme system. ACC is a biotin-containing Enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The Enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACACA 基因产物(28)

mRNA Protein Name
NM_000664.3
XM_047435894.1 XP_047291850.1 acetyl-CoA carboxylase 1 isoform X9
XM_047435882.1 XP_047291838.1 acetyl-CoA carboxylase 1 isoform X3
NM_198835.1
XM_047435886.1 XP_047291842.1 acetyl-CoA carboxylase 1 isoform X5
XM_047435883.1 XP_047291839.1 acetyl-CoA carboxylase 1 isoform X3
XM_047435889.1 XP_047291845.1 acetyl-CoA carboxylase 1 isoform X6
XM_047435892.1 XP_047291848.1 acetyl-CoA carboxylase 1 isoform X8
NM_198837.2 NP_942134.1 acetyl-CoA carboxylase 1 isoform 3
XM_047435893.1 XP_047291849.1 acetyl-CoA carboxylase 1 isoform X8
XM_047435880.1 XP_047291836.1 acetyl-CoA carboxylase 1 isoform X3
XM_047435885.1 XP_047291841.1 acetyl-CoA carboxylase 1 isoform X4
XM_047435878.1 XP_047291834.1 acetyl-CoA carboxylase 1 isoform X3
NM_198836.3 NP_942133.1 acetyl-CoA carboxylase 1 isoform 2
XM_047435891.1 XP_047291847.1 acetyl-CoA carboxylase 1 isoform X8
XM_006721853.2 XP_006721916.1 acetyl-CoA carboxylase 1 isoform X1
XM_005257267.6 XP_005257324.1 acetyl-CoA carboxylase 1 isoform X7
NM_198839.3 NP_942136.1 acetyl-CoA carboxylase 1 isoform 2
XM_011524703.1 XP_011523005.1 acetyl-CoA carboxylase 1 isoform X3
XM_011524701.2 XP_011523003.1 acetyl-CoA carboxylase 1 isoform X2
XM_047435879.1 XP_047291835.1 acetyl-CoA carboxylase 1 isoform X3
XM_011524704.3 XP_011523006.1 acetyl-CoA carboxylase 1 isoform X7
NM_198834.3 NP_942131.1 acetyl-CoA carboxylase 1 isoform 1
XM_047435881.1 XP_047291837.1 acetyl-CoA carboxylase 1 isoform X3
XM_047435888.1 XP_047291844.1 acetyl-CoA carboxylase 1 isoform X6
XM_047435890.1 XP_047291846.1 acetyl-CoA carboxylase 1 isoform X7
XM_047435884.1 XP_047291840.1 acetyl-CoA carboxylase 1 isoform X4
NM_198838.2 NP_942135.1 acetyl-CoA carboxylase 1 isoform 4

ACACA 蛋白结构

Biotin_carb_N

Biotin_carb_N: Biotin carboxylase, N-terminal domain (155 - 274)

CPSase_L_D2

CPSase_L_D2: Carbamoyl-phosphate synthase L chain, ATP binding domain (325 - 508)

Biotin_carb_C

Biotin_carb_C: Biotin carboxylase C-terminal domain (545 - 651)

Biotin_lipoyl

Biotin_lipoyl: Biotin-requiring enzyme (790 - 855)

ACC_central

ACC_central: Acetyl-CoA carboxylase, central region (856 - 1606)

Carboxyl_trans

Carboxyl_trans: Carboxyl transferase domain (1706 - 2259)

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  • 2383 a.a.
蛋白主名 其他名称

acetyl-CoA carboxylase 1

ACC-alpha

acetyl-Coenzyme A carboxylase alpha

关联疾病

疾病名称 别名
Multiple Carboxylase Deficiency

Mcd

Holocarboxylase Synthetase Deficiency
Non-Alcoholic Fatty Liver Disease

Fatty Liver

Non-Alcoholic Fatty Liver

Nafld

Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis

Steatosis

Nafl

Nash

Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease

Steatohepatitis

Fatty Degeneration

Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis

Nafld Without Nash

Nafld Without Mention Of Nash
Chromosome 17q12 Duplication Syndrome

17q12 Microduplication Syndrome

Trisomy 17q12

17q12 Duplication

17q12 Microduplication

Dup(17)(Q12)

Recurrent Duplication Of 17q12

17q12 Duplication Syndrome

17q12 Recurrent Duplication
Acetyl-Coa Carboxylase Deficiency

Acetyl-Coa: Carboxylase Deficiency

ACACAD

Acaca Deficiency

Acc1 Deficiency

Acetyl-Coa Carboxylase 1 Deficiency

Acac Deficiency

Acc Deficiency
Myopathy

Muscular Diseases

Myopathies
Fatty Liver Disease

Alcoholic Fatty Liver

Fatty Liver

Fatty Liver, Alcoholic

Fatty Change Of Liver

Hepatic Lipidosis

Steatosis Of Liver

Fatty Liver Alcoholic

Steatohepatitis

Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis
Lipid Metabolism Disorder

Dyslipidemia

Disorder Of Fatty Acid Metabolism

Lipid Metabolism Disorders

Fatty Acid Metabolism Disorder

Disorder Of Lipid Metabolism

Abnormality Of Lipid Metabolism

Lipid Metabolism, Inborn Errors

Dyslipidemias

Disorders Of Lipid Metabolism

Congenital Disorders Of Lipid Metabolism

Inherited Disorders Of Lipid Metabolism
Hyperinsulinism

Hyperinsulinemia
Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Obesity , Susceptibility To

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis
Biotin Deficiency

Biotin Deficiency Disease

B7 Deficiency

Biotan Vitamin Deficiency
Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation
Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Diabetes Mellitus, Non-Insulin-Dependent

Type 2 Diabetes

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00119 ACACA Human Pre-designed siRNA Set A / 否
HY-RS00120 Acaca Mouse Pre-designed siRNA Set A / 否
HY-RS00121 Acaca Rat Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus ACACA MGD MGI:108451
Bos taurus ACACA VGNC VGNC:25519
Rattus norvegicus ACACA RGD RGD:621248
Macaca mulatta ACACA VGNC VGNC:69592
Felis catus ACACA VGNC VGNC:68645
Canis familiaris ACACA VGNC VGNC:37489
Macaca fascicularis ACACA NCBI NCBI:102138812
Others ACACA NCBI
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