SCP2 - sterol carrier protein 2 Gene

中文名称：甾醇载体蛋白 2

种属: Homo sapiens

同用名: NLTP; SCOX; SCPX; SCP-2; SCP-X; NSL-TP; SCP-CHI

基因 ID: 6342 | 基因类型: protein coding

关于 SCP2

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:52,927,276-53,051,698 (from NCBI)

This gene has 16 transcripts (splice variants), 259 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in liver (RPKM 77.0), duodenum (RPKM 30.8) and 24 other tissues.

功能概要

该基因编码两种蛋白质：甾醇载体蛋白 X (SCPx) 和甾醇载体蛋白 2 (SCP2) ，这是由 2 个独立调节的启动子启动转录的结果。从近端启动子启动的转录本编码较长的 SCPx 蛋白，而从远端启动子启动的转录本编码较短的 SCP2 蛋白，这两种蛋白共享一个共同的 C 端。有证据表明，SCPx 蛋白是一种与过氧化物酶体相关的硫解酶，参与支链脂肪酸的氧化，而 SCP2 蛋白被认为是一种细胞内脂质转移蛋白。该基因在参与脂质代谢的器官中高度表达，并可能在 Zellweger 综合征中发挥作用，其中细胞缺乏过氧化物酶体并且胆汁酸合成受损。该基因的可变剪接产生多个转录变体，其中一些编码不同的亚型。[RefSeq 提供，2010 年 8 月]

This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]

SCP2 基因产物(9)

mRNA	Protein	Name
NM_001007098.3	NP_001007099.1	sterol carrier protein 2 isoform 2
NM_001007099.3	NP_001007100.1	sterol carrier protein 2 isoform 5 precursor
NM_001007100.3	NP_001007101.1	sterol carrier protein 2 isoform 4
NM_001007250.3	NP_001007251.1	sterol carrier protein 2 isoform 3
NM_001193599.2	NP_001180528.1	sterol carrier protein 2 isoform 7
NM_001193600.2	NP_001180529.1	sterol carrier protein 2 isoform 6
NM_001193617.2	NP_001180546.1	sterol carrier protein 2 isoform 8
NM_001330587.2	NP_001317516.1	sterol carrier protein 2 isoform 9
NM_002979.5	NP_002970.2	sterol carrier protein 2 isoform 1 precursor

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 binding	IDA IDA: 通过直接分析推断	18465878	GOA
enables cholesterol transfer activity	IMP IMP: 通过突变表型推断	7642518	GOA
enables fatty-acyl-CoA binding	IDA IDA: 通过直接分析推断	18465878	GOA
enables long-chain fatty acyl-CoA binding	IDA IDA: 通过直接分析推断	17418802	GOA
enables oleic acid binding	IDA IDA: 通过直接分析推断	18465878	GOA
enables phosphatidylinositol transfer activity	IDA IDA: 通过直接分析推断	12641450	GOA
enables propionyl-CoA C2-trimethyltridecanoyltransferase activity	EXP EXP: 通过实验结果推断	9245689	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15182174	GOA
enables signaling receptor binding	IPI IPI: 通过物理相互作用推断	21375735	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in inositol trisphosphate biosynthetic process	IDA IDA: 通过直接分析推断	12641450	GOA
involved in intracellular cholesterol transport	IMP IMP: 通过突变表型推断	7642518	GOA
involved in lipid hydroperoxide transport	IDA IDA: 通过直接分析推断	15449949	GOA
involved in phospholipid transport	IDA IDA: 通过直接分析推断	12641450	GOA
involved in positive regulation of intracellular cholesterol transport	IDA IDA: 通过直接分析推断	15449949	GOA
involved in positive regulation of steroid metabolic process	IDA IDA: 通过直接分析推断	1703300	GOA
involved in progesterone biosynthetic process	IDA IDA: 通过直接分析推断	1703300	GOA
involved in protein localization to plasma membrane	IDA IDA: 通过直接分析推断	12641450	GOA
involved in steroid biosynthetic process	IDA IDA: 通过直接分析推断	1703300	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in peroxisome	IDA IDA: 通过直接分析推断	1347505	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	19584060	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

SCP2 蛋白结构

Thiolase_N

Thiolase_C

SCP2

0
100
200
300
400
500
547 a.a.

蛋白主名

其他名称

sterol carrier protein 2

SCP-2/3-oxoacyl-CoA thiolase

SCP2 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
种属间	SCP2	P22307	Cav1	Mus musculus	P49817	Anti Bait CoIP	15182174
种属内	SCP2	P22307	TRIP13	Homo sapiens	Q15645	Y2H Prey Pooling	25416956
种属内	SCP2	P22307	TRIP13	Homo sapiens	Q15645	Validated Y2H	25416956
种属内	SCP2	P22307	TRIP13	Homo sapiens	Q15645	Y2H Array	25416956
种属内	SCP2	P22307	CAV1	Homo sapiens	Q03135	Y2H	15182174

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

Leukoencephalopathy With Dystonia And Motor Neuropathy

Sterol Carrier Protein 2 Deficiency	LKDMN
Leukoencephalopathy-Dystonia-Motor Neuropathy Syndrome	Leukoencephalopathy - Dystonia - Motor Neuropathy

D-Bifunctional Protein Deficiency

Bifunctional Peroxisomal Enzyme Deficiency	17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
Dbp Deficiency	Peroxisomal Bifunctional Enzyme Deficiency
Pbfe Deficiency	Bifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome	Zellweger-Like Syndrome
DBPD	Protein Deficiency, D-Bifunctional

Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1	RCDP1
Peroxisome Biogenesis Disorder 9	Pbd9
Chondrodysplasia Punctata, Rhizomelic Form	Cdpr
Chondrodystrophia Calcificans Punctata	Rhizomelic Chondrodysplasia Punctata 1
Chondrodysplasia Punctata, Rhizomelic, Type 1	Chondrodysplasia Punctata, Rhizomelic

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Peach Allergy

Prunus Persica Fruit Allergy

Cherry Allergy

Prunus Avium Fruit Allergy

Vegetable Allergy

Celery Allergy

Yellow Fever

Urban Yellow Fever	Jungle Yellow Fever
Sylvatic Yellow Fever	Yf
Yellow Fever, Sylvan	Bronze John
Yellow Jack	Yf- [Yellow Fever]
Febris Flava

Apple Allergy

Malus Domestica Fruit Allergy

Food Allergy

Food Hypersensitivity	Food Allergies
Allergy Food	Food Allergen-Induced Hypersensitivity

Nut Allergy

Nut Allergic Reaction	Nut Hypersensitivity
Allergy To Nuts	Allergy Nut

Fruit Allergy

Allergy To Fruit

Pollen Allergy

Hay Fever

Alpha-Methylacyl-Coa Racemase Deficiency

Amacr Deficiency

AMACRD

Wheat Allergy

Wheat Allergic Reaction	Wheat Hypersensitivity
Allergy To Wheat	Allergy Wheat

Torticollis

Contracture Of Neck	Wry Neck
Wry Neck/Torticollis

Orange Allergy

Citrus Sinensis Fruit Allergy

Crustacean Allergy

Refsum Disease, Classic

Refsum Disease	Heredopathia Atactica Polyneuritiformis
Phytanic Acid Oxidase Deficiency	Hmsn Iv
Refsum Disease, Adult, 1	Refsum'S Disease
Phytanic Acid Storage Disease	Hereditary Motor And Sensory Neuropathy Iv
Hmsn4	Hmsn Type Iv
Hmsn 4	Adult Refsum Disease
Classic Refsum Disease	Hereditary Motor And Sensory Neuropathy Type Iv
Refsum Syndrome	Hsmn Iv
Disorder Of Cornification 11	Doc 11
Hereditary Sensory And Motor Neuropathy Type 4	Hypertrophic Neuropathy Of Refsum
Ard	Crd
Hereditary Motor And Sensory Neuropathy Type 4	Phytanic-Coa Hydroxylase Deficiency
RD

Chlorhexidine Allergy

Shrimp Allergy

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Neonatal Adrenoleukodystrophy

Nald	Adrenoleukodystrophy Autosomal Neonatal Form
Intermediate Pbd-Zsd	Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Adrenoleukodystrophy, Autosomal, Neonatal Form	Adrenoleukodystrophy Neonatal
Adrenoleukodystrophy, Neonatal

Legume Allergy

Fabaceae Allergy

Tomato Allergy

Solanum Lycopersicum Fruit Allergy

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Peanut Allergy

Allergy To Peanuts	Peanut Allergic Reaction
Allergies Peanut	Peanut Hypersensitivity

Byssinosis

Flax-Dressers' Disease	Cotton Mill Fever
Stripper'S Asthma	Monday Morning Fever
Cotton Workers' Lung Disease	Cotton-Dust Asthma
Mill Fever	Lung Fibrosis With Byssinosis
Airway Disease Due To Cotton Dust	Respiratory Tract Disorder Due To Cotton Dust
Strippers' Disease	Flax-Dressers' Disorder
Strippers' Asthma

Chicken Egg Allergy

Gallus Gallus Egg Allergy

Rhizomelic Chondrodysplasia Punctata, Type 2

Rhizomelic Chondrodysplasia Punctata Type 2	Dihydroxyacetonephosphate Acyltransferase Deficiency
RCDP2	Dhapat Deficiency
Glyceronephosphate O-Acyltransferase Deficiency	Gnpat Deficiency
Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency	Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency
Chondrodysplasia Punctata, Rhizomelic, Type 2	Rhizomelic Chondrodysplasia Punctata 2

Latex Allergy

Melon Allergy

Cucumis Melo Fruit Allergy

Spastic Paraplegia 46, Autosomal Recessive

SPG46	Hereditary Spastic Paraplegia 46
Autosomal Recessive Spastic Paraplegia Type 46	Autosomal Recessive Spastic Paraplegia 46
Paraplegia, Spastic, Type 46, Autosomal Recessive

Cholestasis, Benign Recurrent Intrahepatic, 1

Benign Recurrent Intrahepatic Cholestasis	BRIC1
Summerskill Syndrome	Bric
Summerskill-Walshe-Tygstrup Syndrome	Cholestasis, Benign Recurrent Intrahepatic
Benign Recurrent Intrahepatic Cholestasis 1	Benign Recurrent Intrahepatic Cholestasis Type 1
Bric Type 1	Low Gamma-Gt Familial Intrahepatic Cholestasis
Recurrent Familial Intrahepatic Cholestasis	Cholestasis, Benign Recurrent Intrahepatic 1
Mild Atp8b1 Deficiency	Recurrent Familial Intrahepatic Cholestasis 1
Abcb11-Related Intrahepatic Cholestasis	Atp8b1-Related Intrahepatic Cholestasis
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1	Progressive Intrahepatic Cholestasis
Cholestasis, Progressive Familial Intrahepatic 3	Bric - [Benign Recurrent Intrahepatic Cholestasis]

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders	Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
Disorders Of Peroxisome Biogenesis	Zellweger Spectrum
Zellweger Syndrome Spectrum	Peroxisomal Biogenesis Disorders
Pbd, Zss	Pbd-Zsd
Pbd-Zss	Pbd-Zellweger Spectrum Disorder
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum	Peroxisome Biogenesis Disorder
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorders
Zellweger Spectrum Disorder	Hyperpipecolic Acidaemia

Peroxisomal Disease

Peroxisomal Disorder	Peroxisomal Disorders
Peroxisomal Defects

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

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-124824	Methyl gerfelin	Inhibitor	/	否
HY-RS12559	SCP2 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	SCP2	VGNC	VGNC:100134
Mus musculus	SCP2	MGD	MGI:98254
Canis familiaris	SCP2	VGNC	VGNC:45930
Bos taurus	SCP2	VGNC	VGNC:34361
Rattus norvegicus	SCP2	RGD	RGD:3642
Felis catus	SCP2	VGNC	VGNC:80351
Others	SCP2	NCBI