Q13133

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession NR1H3_HUMAN; Q13133;
Entrez ID 10062
GenBank Protein ID NM_001130101.2; NM_001130102.2; NM_005693.3; XM_005252705.1; XM_005252706.1; XM_005252707.4; XM_005252709.1; XM_005252710.1; XM_005252713.3; XM_006718112.1; XM_006718113.1; XM_006718115.1; XM_006718116.1; XM_011519805.2; XM_017017058.1;
GenBank Nucleotide ID NP_001123573.1; NP_001123574.1; NP_005684.2; XP_005252762.1; XP_005252763.1; XP_005252764.1; XP_005252766.1; XP_005252767.1; XP_005252770.1; XP_006718175.1; XP_006718176.1; XP_006718178.1; XP_006718179.1; XP_011518107.1; XP_016872547.1;
Protein Name Oxysterols receptor LXR-alpha (Liver X receptor alpha) (Nuclear receptor subfamily 1 group H member 3)
Gene Name NR1H3; LXRA
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionNuclear receptor. Interaction with RXR shifts RXR from its role as a silent DNA-binding partner to an active ligand-binding subunit in mediating retinoid responses through target genes defined by LXRES. LXRES are DR4-type response elements characterized by direct repeats of two similar hexanuclotide half-sites spaced by four nucleotides. Plays an important role in the regulation of cholesterol homeostasis, regulating cholesterol uptake through MYLIP-dependent ubiquitination of LDLR, VLDLR and LRP8. Interplays functionally with RORA for the regulation of genes involved in liver metabolism (By similarity). Exhibits a ligand-dependent transcriptional activation activity (PubMed:25661920).
Sequence
(Fasta)		MSLWLGAPVP DIPPDSAVEL WKPGAQDASS QAQGGSSCIL REEARMPHSA GGTAGVGLEA 60
AEPTALLTRA EPPSEPTEIR PQKRKKGPAP KMLGNELCSV CGDKASGFHY NVLSCEGCKG 120
FFRRSVIKGA HYICHSGGHC PMDTYMRRKC QECRLRKCRQ AGMREECVLS EEQIRLKKLK 180
RQEEEQAHAT SLPPRASSPP QILPQLSPEQ LGMIEKLVAA QQQCNRRSFS DRLRVTPWPM 240
APDPHSREAR QQRFAHFTEL AIVSVQEIVD FAKQLPGFLQ LSREDQIALL KTSAIEVMLL 300
ETSRRYNPGS ESITFLKDFS YNREDFAKAG LQVEFINPIF EFSRAMNELQ LNDAEFALLI 360
AISIFSADRP NVQDQLQVER LQHTYVEALH AYVSIHHPHD RLMFPRMLMK LVSLRTLSSV 420
HSEQVFALRL QDKKLPPLLS EIWDVHE 448

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1Serine PhosphorylationAtherosclerosisPS19825825525
[Reference]: Modulation of Macrophage Gene Expression via Liver X Receptor ? Serine 198 Phosphorylation.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 3)		MESH:D056486 ; Chemical and Drug Induced Liver Injury
MESH:D002779 ; Cholestasis
MESH:D005234 ; Fatty Liver
DisGeNet (Curated)
(count: 3)		C0008370; Cholestasis
C0015695; Fatty Liver
C4277682; Chemical and Drug Induced Liver Injury
GWASdb
(count: 10)
(view all)		rs3758671; Progressive supranuclear palsy; progressive supranuclear palsy
rs10838681; Urinary metabolites; kidney disease
rs10838681; Metabolic syndrome; lipid metabolism disorder|glucose metabolism disease|hypertension|metabolic syndrome X
rs181556634; Carotid intima media thickness; atherosclerosis
rs58304713; Carotid intima media thickness; atherosclerosis
rs2279238; HDL cholesterol; cholesterol ester storage disease|cholesterol embolism|coronary artery disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 7)
(view all)		 197       TSLPPRASSPPQILP     dbPAF
198       SLPPRASSPPQILPQ     dbPAF
246       PMAPDPHSREARQQR     dbPAF
306       LLETSRRYNPGSESI     dbPAF
310       SRRYNPGSESITFLK     dbPAF
312       RYNPGSESITFLKDF     dbPAF
Sumoylation
(count: 1)		 328       YNREDFAKAGLQVEF     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource