1. Gene
  2. NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

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.


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

NR1H3 蛋白结构


zf-C4: Zinc finger, C4 type (two domains) (97 - 164)


Hormone_recep: Ligand-binding domain of nuclear hormone receptor (244 - 427)

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  • 447 a.a.
蛋白主名 其他名称

oxysterols receptor LXR-alpha


疾病名称 别名
Multiple Sclerosis


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


Etoh Fatty Liver

Etoh Fatty Liver Metamorphosis

Fatty Etoh Liver Necrosis

Cerebrotendinous Xanthomatosis


Cerebral Cholesterinosis

Cholestanol Storage Disease

Xanthomatosis, Cerebrotendinous

Sterol 27-Hydroxylase Deficiency

Xanthomatosis Cerebrotendinous

Cerebrotendinous Cholesterinosis


Van Bogaert-Scherer-Epstein Disease


Xanthomatosis, Susceptibility To


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


Nonalcoholic Fatty Liver Disease

Nonalcoholic Steatohepatitis




Non-Alcoholic Steatohepatitis

Susceptibility To Nonalcoholic Fatty Liver Disease


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




Liposarcoma Myxoid


Diabetes Mellitus


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


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