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

NR1H3 - nuclear receptor subfamily 1 group H member 3 Gene

Homo sapiens

Also known as LXRA; LXR-a; RLD-1

Gene ID: 10062 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

zf-C4

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

Hormone_recep

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

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  • 447 a.a.
Protein Preferred Names Protein Names

oxysterols receptor LXR-alpha

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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