Reactome | UniProt:Q14739 LBR

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UniProt:Q14739 LBR Show undefined attributes

chain	chain:1-615
checksum	5A7388776F43C66D
comment	FUNCTION Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (By similarity). Anchors the lamina and the heterochromatin to the inner nuclear membrane (PubMed:10828963).CATALYTIC ACTIVITY 5alpha-cholest-8,14-dien-3beta-ol + NADPH + H(+) = 5alpha-cholest-8-en-3beta-ol + NADP(+)CATALYTIC ACTIVITY 4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP(+) = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + NADPH + H(+)CATALYTIC ACTIVITY 4,4-dimethyl-8,14-cholestadien-3beta-ol + NADPH + H(+) = 4,4-dimethyl-5alpha-cholest-8-en-3beta-ol + NADP(+)PATHWAY Steroid biosynthesis; cholesterol biosynthesis.SUBUNIT Interacts with CBX5 (PubMed:15882967, PubMed:9169472). Interacts with DNA (PubMed:8157662). Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than linear DNA (PubMed:8157662). Interacts with lamin B (PubMed:8157662). Interacts with CLNK (PubMed:26009488). Interacts with TMEM147; promoting LBR localization to the nucleus inner membrane (PubMed:32694168).INTERACTION Nucleus; nuclear rim.TISSUE SPECIFICITY Expressed in the bone marrow, liver, heart, adrenal gland, lung, placenta and uterus (PubMed:16784888). Expressed in osteoclasts and osteoblast-like cells (PubMed:21327084).DOMAIN The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3.PTM Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane is associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle. Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation with chromatin.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease may be caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ERG4/ERG24 family.
crossReference	[DatabaseIdentifier:12402213] RefSeq:NP_919424.1 [DatabaseIdentifier:12402214] RefSeq:NP_002287.2 [DatabaseIdentifier:12402212] RefSeq:XP_054192529.1 [DatabaseIdentifier:12402215] RefSeq:XP_011542487.1 [DatabaseIdentifier:11487305] ENSEMBL:ENSG00000143815 [DatabaseIdentifier:11592021] ENSEMBL:ENSP00000272163 [DatabaseIdentifier:11592020] ENSEMBL:ENSP00000339883 [DatabaseIdentifier:11714719] ENSEMBL:ENST00000338179 [DatabaseIdentifier:11714720] ENSEMBL:ENST00000272163 [DatabaseIdentifier:11784162] GeneCards:LBR [DatabaseIdentifier:11799676] GlyGen:Q14739 [DatabaseIdentifier:11837260] HPA:ENSG00000143815-LBR [DatabaseIdentifier:12121753] OpenTargets:ENSG00000143815 [DatabaseIdentifier:12136414] Orphanet:LBR [DatabaseIdentifier:12155838] PDB:2DIG [DatabaseIdentifier:12239731] PRO:Q14739 [DatabaseIdentifier:12282077] Pharos - Targets:Q14739
databaseName	UniProt
dbId	69877
description	recommendedName: Delta(14)-sterol reductase LBR shortName: Delta-14-SR ecNumber evidence="7 23"1.3.1.70 alternativeName: fullName evidence="28"3-beta-hydroxysterol Delta (14)-reductase alternativeName: C-14 sterol reductase shortName: C14SR alternativeName: fullName evidence="27"Integral nuclear envelope inner membrane protein alternativeName: LMN2R alternativeName: fullName evidence="29 30"Lamin-B receptor alternativeName: Sterol C14-reductase
displayName	UniProt:Q14739 LBR
geneName	LBR
identifier	Q14739
isSequenceChanged	false
keyword	3D-structure Acetylation Cholesterol biosynthesis Cholesterol metabolism Cytoplasm Disease variant DNA-binding Dwarfism Endoplasmic reticulum Lipid biosynthesis Lipid metabolism Membrane Nucleus Oxidoreductase Phosphoprotein Proteomics identification Receptor Reference proteome Steroid biosynthesis Steroid metabolism Sterol biosynthesis Sterol metabolism Transmembrane Transmembrane helix
modified	[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType	Protein
name	LBR
otherIdentifier	11716797_s_at 11751573_a_at 16699877 201795_PM_at 201795_at 2458290 2458291 2458292 2458293 2458295 2458296 2458298 2458299 2458301 2458303 2458304 2458305 2458306 2458310 2458311 2458312 2458313 2458314 2458315 2458316 2458317 2458318 2458319 2458320 2458321 2458322 288_s_at 3930 7924603 A_23_P200493 GE57697 GO:0001650 GO:0003677 GO:0003723 GO:0005515 GO:0005521 GO:0005634 GO:0005635 GO:0005637 GO:0005652 GO:0005654 GO:0005737 GO:0005783 GO:0005789 GO:0006325 GO:0006629 GO:0006694 GO:0006695 GO:0008202 GO:0008203 GO:0016020 GO:0016126 GO:0016491 GO:0016628 GO:0030154 GO:0030223 GO:0031965 GO:0050613 GO:0060090 GO:0060816 GO:0070087 GO:0070402 GO:0140463 HMNXSV003005095 ILMN_1768969 ILMN_1810418 ILMN_2285480 L25931_s_at PH_hs_0030224 TC01003887.hg g4504960_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-194637] LBR [nuclear envelope] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9624811] p-S71,S86-LBR [nuclear envelope] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9714334] LBR [endoplasmic reticulum membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9715094] LBR [endosome membrane] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000143815] ENSEMBL:ENSG00000143815 LBR [ReferenceDNASequence:12746254] UCSC:Q14739 LBR [ReferenceDNASequence:11352577] BioGPS Gene:3930 LBR [ReferenceDNASequence:11400972] COSMIC - genes:LBR LBR [ReferenceDNASequence:11408021] CTD Gene:3930 LBR [ReferenceDNASequence:11438224] dbSNP Gene:3930 LBR [ReferenceDNASequence:11815786] HGNC:6518 LBR [ReferenceDNASequence:11892265] KEGG:hsa:3930 LBR [ReferenceDNASequence:11982366] Monarch:3930 LBR [ReferenceDNASequence:12066459] NCBI Gene:3930 LBR [ReferenceDNASequence:12107423] OMIM:600024 LBR
referenceTranscript	[ReferenceRNASequence:12583940] RefSeq:XM_011544185.4 LBR [ReferenceRNASequence:12583943] RefSeq:NM_002296.3 LBR [ReferenceRNASequence:12583941] RefSeq:NM_194442.3 LBR [ReferenceRNASequence:12583942] RefSeq:XM_054336554.1 LBR
schemaClass	ReferenceGeneProduct
secondaryIdentifier	LBR_HUMAN B2R5P3 Q14740 Q53GU7 Q59FE6
sequenceLength	615
species	[Species:48887] Homo sapiens
stId	uniprot:Q14739
url	http://purl.uniprot.org/uniprot/Q14739

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-194637] LBR [nuclear envelope] [EntityWithAccessionedSequence:R-HSA-9624811] p-S71,S86-LBR [nuclear envelope] [EntityWithAccessionedSequence:R-HSA-9714334] LBR [endoplasmic reticulum membrane] [EntityWithAccessionedSequence:R-HSA-9715094] LBR [endosome membrane]
(referenceSequence)	[ModifiedResidue:9624809] O-phospho-L-serine at 86 [ModifiedResidue:9624812] O-phospho-L-serine at 71
(interactor)	[UndirectedInteraction:11139495] UniProt:P31946 <-> UniProt:Q14739 (IntAct) [UndirectedInteraction:11170593] UniProt:Q9Y4Z2 <-> UniProt:Q14739 (IntAct) [UndirectedInteraction:11219691] UniProt:Q14739 <-> UniProt:P61981 (IntAct) [UndirectedInteraction:11219693] UniProt:Q14739 <-> UniProt:Q15013 (IntAct) [UndirectedInteraction:11219695] UniProt:Q14739 <-> UniProt:Q13185 (IntAct) [UndirectedInteraction:11219697] UniProt:Q14739 <-> UniProt:Q04917 (IntAct) [UndirectedInteraction:11219699] UniProt:Q14739 <-> UniProt:P45973 (IntAct) [UndirectedInteraction:11219701] UniProt:Q14739 <-> UniProt:P27824 (IntAct) [UndirectedInteraction:11219703] UniProt:Q14739 <-> UniProt:Q07021 (IntAct) [UndirectedInteraction:11219705] UniProt:Q14739 <-> UniProt:Q8NAF0 (IntAct) [UndirectedInteraction:11219707] UniProt:Q14739 <-> UniProt:P60033 (IntAct) [UndirectedInteraction:11219709] UniProt:Q14739 <-> UniProt:Q7RTS1 (IntAct) [UndirectedInteraction:11219711] UniProt:Q14739 <-> UniProt:P49761 (IntAct) [UndirectedInteraction:11219713] UniProt:Q14739 <-> UniProt:O75596 (IntAct) [UndirectedInteraction:11219715] UniProt:Q14739 <-> UniProt:Q9Y6H1 (IntAct) [UndirectedInteraction:11219717] UniProt:Q14739 <-> UniProt:Q5S007 (IntAct) [UndirectedInteraction:11219719] UniProt:Q14739 <-> UniProt:Q9Y3Y2 (IntAct) [UndirectedInteraction:11219721] UniProt:Q14739 <-> UniProt:P01111 (IntAct)