NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

中文名称：核受体亚家族 1 H 组成员 3

种属: Homo sapiens

同用名: LXRA; LXR-a; RLD-1

基因 ID: 10062 | 基因类型: protein coding

关于 NR1H3

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,248,300-47,269,033 (from NCBI)

This gene has 35 transcripts (splice variants), 392 orthologues and 18 paralogues. Ubiquitous expression in fat (RPKM 25.1), spleen (RPKM 16.7) and 23 other tissues.

功能概要

该基因编码的蛋白质属于核受体超家族的 NR1 亚家族。 NR1 家族成员是巨噬细胞功能的关键调节因子，控制参与脂质稳态和炎症的转录程序。这种蛋白质在内脏器官中高度表达，包括肝脏、肾脏和肠道。它与类视黄醇 X 受体 (RXR) 形成异二聚体，并调节含有类视黄醇反应元件的靶基因的表达。对缺乏该基因的小鼠进行的研究表明，它可能在调节胆固醇稳态方面发挥重要作用。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，2011 年 10 月]

The protein encoded by this gene belongs to the NR1 subfamily of the Nuclear Receptor Superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of Cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

NR1H3 基因产物(6)

mRNA	Protein	Name
NM_001130101.3	NP_001123573.1	oxysterols receptor LXR-alpha isoform 2
NM_001130102.3	NP_001123574.1	oxysterols receptor LXR-alpha isoform 3
NM_001251934.2	NP_001238863.1	oxysterols receptor LXR-alpha isoform 4
NM_001251935.2	NP_001238864.1	oxysterols receptor LXR-alpha isoform 4
NM_001363595.2	NP_001350524.1	oxysterols receptor LXR-alpha isoform 5
NM_005693.4	NP_005684.2	oxysterols receptor LXR-alpha 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 nuclear receptor activity	IDA IDA: 通过直接分析推断	19481530	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12040021	GOA
enables sterol response element binding	IDA IDA: 通过直接分析推断	19628791	GOA
contributes to transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	18511497	GOA
enables transcription cis-regulatory region binding	IDA IDA: 通过直接分析推断	19229075	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in apoptotic cell clearance	IMP IMP: 通过突变表型推断	19628791	GOA
involved in cellular response to lipopolysaccharide	IDA IDA: 通过直接分析推断	18511497	GOA
involved in cholesterol homeostasis	IDA IDA: 通过直接分析推断	18511497	GOA
involved in hormone-mediated signaling pathway	IDA IDA: 通过直接分析推断	7744246	GOA
involved in mRNA transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	7744246	GOA
involved in negative regulation of cholesterol storage	IMP IMP: 通过突变表型推断	17693624	GOA
involved in negative regulation of lipid transport	IMP IMP: 通过突变表型推断	17693624	GOA
involved in negative regulation of pinocytosis	IMP IMP: 通过突变表型推断	17693624	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	25661920	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	19628791	GOA
involved in positive regulation of cholesterol efflux	IDA IDA: 通过直接分析推断	16141411	GOA
involved in positive regulation of cholesterol efflux	IMP IMP: 通过突变表型推断	17186944	GOA
involved in positive regulation of cholesterol transport	IDA IDA: 通过直接分析推断	16141411	GOA
involved in positive regulation of fatty acid biosynthetic process	IMP IMP: 通过突变表型推断	17186944	GOA
involved in positive regulation of lipid biosynthetic process	IDA IDA: 通过直接分析推断	23499676	GOA
involved in positive regulation of lipoprotein lipase activity	IMP IMP: 通过突变表型推断	17186944	GOA
involved in positive regulation of protein metabolic process	IMP IMP: 通过突变表型推断	17186944	GOA
involved in positive regulation of toll-like receptor 4 signaling pathway	IDA IDA: 通过直接分析推断	18511497	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	7744246	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	17186944	GOA
involved in positive regulation of triglyceride biosynthetic process	IMP IMP: 通过突变表型推断	17693624	GOA
involved in response to progesterone	IDA IDA: 通过直接分析推断	16141411	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of RNA polymerase II transcription regulator complex	EXP EXP: 通过实验结果推断	19167885	GOA
part of RNA polymerase II transcription regulator complex	IDA IDA: 通过直接分析推断	18511497	GOA
part of RNA polymerase II transcription regulator complex	IPI IPI: 通过物理相互作用推断	25416956	GOA
located in chromatin	IDA IDA: 通过直接分析推断	18511497	GOA
located in nucleus	IDA IDA: 通过直接分析推断	25661920	GOA
part of receptor complex	IDA IDA: 通过直接分析推断	18511497	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

NR1H3 蛋白结构

zf-C4

Hormone_recep

0
100
200
300
400
447 a.a.

蛋白主名

其他名称

oxysterols receptor LXR-alpha

关联疾病

疾病名称

别名

Multiple Sclerosis

MS	Multiple Sclerosis, Susceptibility To
Disseminated Sclerosis	Multiple Sclerosis, Disease Progression, Modifier Of
Insular Sclerosis	Multiple Sclerosis Modifier Of Disease Progression
Multiple Sclerosis, Susceptibility To 1	Multiple Sclerosis, Susceptibility To, 1
Multiple Sclerosis 1	Generalized Multiple Sclerosis
Multiple Sclerosis Variant	Multiple Sclerosis Susceptibility To
Cerebrospinal Sclerosis	Generalised Multiple Sclerosis
Ms - [Multiple Sclerosis]	Disseminated Cerebrospinal Sclerosis
Disseminated Multiple Sclerosis	Disseminated Nervous System Myelosclerosis
Multiple Cerebrospinal Sclerosis	Multiple Combined Sclerosis
Multiple Sclerosis Generalised	Disseminated Brain Sclerosis
Disseminated Spinal Sclerosis	Insular Brain Sclerosis
Miliary Brain Sclerosis	Multiple Combined Sclerosis Of Spinal Cord
Multiple Ascending Sclerosis	Multiple Brain Sclerosis
Multiple Sclerosis Of Brain Stem	Multiple Sclerosis Of The Brain Stem
Multiple Sclerosis Of Cord	Sclérose En Plaques
Plaque Sclerosis	Multiple Sclerosis Of The Spinal Cord

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

Cerebrotendinous Xanthomatosis

CTX	Cerebral Cholesterinosis
Cholestanol Storage Disease	Xanthomatosis, Cerebrotendinous
Sterol 27-Hydroxylase Deficiency	Xanthomatosis Cerebrotendinous
Cerebrotendinous Cholesterinosis	Cholestanolosis
Van Bogaert-Scherer-Epstein Disease

Xanthomatosis

Xanthomatosis, Susceptibility To

Xanthelasmatosis

Liver Disease

Liver Failure	Liver Diseases
Abnormality Of The Liver	Liver Dysfunction
Disorder Of Liver	Hepatic Disorder
Hepatic Disease	Disease Of Bilirubin Metabolism
Disorder Of Bilirubin Metabolism	Liver Decompensation
Liver Function Failure	Hepatic Failure Nos
Liver Failure Nos	End Stage Liver Disease
Decompensated Liver Failure	Decompensation Of Liver Function
Hepatic Decompensation	Hepatic Insufficiency
Liver Cell Necrosis With Hepatic Failure	Liver Insufficiency
Decompensated Liver Disease	End Stage Liver Failure
Liver Necrosis With Hepatic Failure

Pulmonary Alveolar Proteinosis

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

Myxoid Liposarcoma

Myxoid/Round Cell Liposarcoma	Liposarcoma, Myxoid
Mrcls	Myxoliposarcoma
MXLIPO	Liposarcoma Myxoid
Liposarcoma

Diabetes Mellitus

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS09530	NR1H3 Human Pre-designed siRNA Set A		/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	NR1H3	RGD	RGD:61909
Bos taurus	NR1H3	VGNC	VGNC:32231
Canis familiaris	NR1H3	VGNC	VGNC:43943
Macaca mulatta	NR1H3	VGNC	VGNC:75505
Felis catus	NR1H3	VGNC	VGNC:68545
Mus musculus	NR1H3	MGD	MGI:1352462
Others	NR1H3	NCBI

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

关于 NR1H3

功能概要

NR1H3 基因产物(6)

NR1H3 蛋白结构

关联疾病

直系同源

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NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

关于 NR1H3

功能概要

NR1H3 基因产物(6)

NR1H3 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z