SOAT1 - sterol O-acyltransferase 1 Gene

中文名称：甾醇 O-酰基转移酶 1

种属: Homo sapiens

同用名: ACAT; SOAT; STAT; ACACT; ACAT1; ACAT-1

基因 ID: 6646 | 基因类型: protein coding

关于 SOAT1

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:179,293,797-179,358,680 (from NCBI)

This gene has 4 transcripts (splice variants), 209 orthologues and 2 paralogues. Broad expression in adrenal (RPKM 68.9), prostate (RPKM 11.4) and 17 other tissues.

功能概要

该基因编码的蛋白质属于酰基转移酶家族。它位于内质网中，催化脂肪酸-胆固醇酯的形成。该基因通过控制游离胆固醇和细胞质胆固醇酯之间的平衡，与 β-淀粉样蛋白和动脉粥样硬化斑块的形成有关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2011 年 11 月]

The protein encoded by this gene belongs to the Acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free Cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]

SOAT1 基因产物(3)

mRNA	Protein	Name
NM_001252511.2	NP_001239440.1	sterol O-acyltransferase 1 isoform 2
NM_001252512.2	NP_001239441.1	sterol O-acyltransferase 1 isoform 3
NM_003101.6	NP_003092.4	sterol O-acyltransferase 1 isoform 1

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 cholesterol O-acyltransferase activity	IDA IDA: 通过直接分析推断	16647063	GOA
enables cholesterol O-acyltransferase activity	IMP IMP: 通过突变表型推断	8407899	GOA
enables cholesterol binding	IDA IDA: 通过直接分析推断	16647063	GOA
enables fatty-acyl-CoA binding	IDA IDA: 通过直接分析推断	16647063	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	32433613	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21044950	GOA
enables sterol O-acyltransferase activity	IDA IDA: 通过直接分析推断	9756919	GOA
enables sterol O-acyltransferase activity	IMP IMP: 通过突变表型推断	8407899	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cholesterol efflux	IMP IMP: 通过突变表型推断	15308631	GOA
involved in cholesterol homeostasis	IDA IDA: 通过直接分析推断	32433614	GOA
acts upstream of or within cholesterol metabolic process	IDA IDA: 通过直接分析推断	9756919	GOA
involved in cholesterol metabolic process	IDA IDA: 通过直接分析推断	16647063	GOA
involved in cholesterol metabolic process	IMP IMP: 通过突变表型推断	8407899	GOA
involved in cholesterol storage	IMP IMP: 通过突变表型推断	8407899	GOA
involved in macrophage derived foam cell differentiation	IMP IMP: 通过突变表型推断	8407899	GOA
involved in positive regulation of amyloid precursor protein biosynthetic process	IMP IMP: 通过突变表型推断	17412327	GOA
involved in very-low-density lipoprotein particle assembly	IMP IMP: 通过突变表型推断	15308631	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum	IDA IDA: 通过直接分析推断	10623671	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	17412327	GOA
located in membrane	IDA IDA: 通过直接分析推断	9756919	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

SOAT1 蛋白结构

MBOAT

0
100
200
300
400
500
550 a.a.

蛋白主名

其他名称

sterol O-acyltransferase 1

acyl-coenzyme A:cholesterol acyltransferase 1

SOAT1 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
Intra	SOAT1	P35610	CARNMT1	Homo sapiens	Q8N4J0	Anti Tag CoIP	28514442
Intra	SOAT1	P35610	CARNMT1	Homo sapiens	Q8N4J0	Anti Tag CoIP	33961781
Intra	SOAT1	P35610	UBIAD1	Homo sapiens	Q9Y5Z9	Anti Tag CoIP	23169578
Intra	SOAT1	P35610	TERF1	Homo sapiens	P54274	Pull Down	21044950

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

Chronic Leukemia

Adult Chronic Leukemia	Cll
Cml

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Atherosclerosis Susceptibility

Atherosclerosis	Atherosclerosis, Susceptibility To
ATHS	Atherogenic Lipoprotein Phenotype
Alp	Arteriosclerosis

Adrenal Carcinoma

Adrenal Cancer	Adrenal Gland Cancer
Malignant Neoplasm Of Adrenal Gland	Adrenal Gland Neoplasms
Carcinoma Of The Adrenal Gland	Adrenal Neoplasm
Malignant Adrenal Tumor	Neoplasm Of Adrenal Gland
Tumor Of The Adrenal Gland	Adrenal Gland Neoplasm
Adrenocortical Carcinoma	Adrenal Gland Malignancy
Suprarenal Cancer	Malignant Neoplasm Of Suprarenal Gland
Malignant Neoplasm Of Adrenal Gland, Unspecified	Malignant Tumour Of Adrenal Gland
Suprarenal Gland Cancer	Primary Malignant Neoplasm Of Adrenal Gland

Schnyder Corneal Dystrophy

Schnyder Crystalline Corneal Dystrophy	SCCD
Corneal Dystrophy, Crystalline, Of Schnyder	Corneal Dystrophy, Schnyder Type
Corneal Dystrophy Crystalline Of Schnyder	Crystalline Stromal Dystrophy
Hereditary Crystalline Stromal Dystrophy Of Schnyder	Scd
Corneal Dystrophy, Schnyder	Schnyder Crystalline Dystrophy Sine Crystals
Dystrophy, Corneal, Crystalline, Schnyder

Hyper Ige Syndrome

Hyper-Ige Syndrome	Hyper Immunoglobulin E Syndrome
Hies	Hyper-Ige Recurrent Infection Syndrome
Hyperimmunoglobulin E Syndrome	Hyper Ige
Job Syndrome	Hartnup Disease

Pancreatic Cancer

Pancreatic Carcinoma	Carcinoma Of Pancreas
Familial Pancreatic Carcinoma	Pancreatic Neoplasm
Pancreatic Carcinoma, Familial	Malignant Neoplasm Of Pancreas
Pancreatic Acinar Carcinoma	Pancreatic Tumor
Familial Pancreatic Cancer	Neoplasm Of The Pancreas
Cancer Of The Pancreas	Pancreatic Carcinoma, Somatic
Pancreatic Cancer, Somatic	Ca Body Of Pancreas
Ca Head Of Pancreas	Ca Tail Of Pancreas
Malignant Neoplasm Of Body Of Pancreas	Malignant Neoplasm Of Head Of Pancreas
Malignant Neoplasm Of Tail Of Pancreas	Pancreas Neoplasm
Exocrine Cancer	Exocrine Pancreas Carcinoma
Hereditary Pancreatic Cancer	Hereditary Pancreatic Carcinoma
PNCA	Pancreatic Cancer, Susceptibility To
Carcinoma Of Head Of Pancreas	Pancreatic Neoplasms
Pancreatic Tumors	Cancer, Pancreatic
Cancer Of Pancreas	Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

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

Adrenal Cortex Disease

Adrenal Cortex Diseases

Adrenal Cortical Carcinoma

Adrenocortical Carcinoma	Adrenal Cortex Carcinoma
Carcinoma Of The Adrenal Cortex	Acc
Adrenocortical Cancer	Carcinoma Adrenocortical

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Alzheimer Disease, Familial, 1

Alzheimer Disease	Alzheimer'S Disease
Presenile And Senile Dementia	AD1
Alzheimer Disease, Susceptibility To	Alzheimer Disease, Late-Onset, Susceptibility To
Alzheimer Disease 1, Familial	AD
Familial Alzheimer Disease	Alzheimer Disease, Late-Onset
Alzheimers Dementia	Alzheimer Dementia
Alzheimer Sclerosis	Alzheimer Syndrome
Alzheimer-Type Dementia	Dat
Primary Senile Degenerative Dementia	Sdat
Alzheimer Disease 1	Autosomal Dominant Alzheimer Disease
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy	Late Onset Alzheimer Disease
Alzheimers Disease	Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
Late-Onset Alzheimers Disease	Alzheimer'S Disease Pathway Kegg
Dementia Due To Alzheimer'S Disease	Alzheimer Disease Type 1
Alzheimers

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
Obesity , Susceptibility To	BMIQ11
Obesity Bmiq11	Obesity, Early-Onset
Simple Obesity Nos	Excess Fat
Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified	Adiposis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS13549	SOAT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-135727	PF-6422899	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	SOAT1	VGNC	VGNC:35116
Mus musculus	SOAT1	MGD	MGI:104665
Macaca mulatta	SOAT1	VGNC	VGNC:77685
Canis familiaris	SOAT1	VGNC	VGNC:46646
Felis catus	SOAT1	VGNC	VGNC:65561
Rattus norvegicus	SOAT1	RGD	RGD:621641

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