Gene: Lbr

Basic information

Tag Content
Uniprot ID Q3U9G9; Q3TSW2; Q811V8; Q811V9; Q8BST3; Q8K2Y8; Q8VDM0; Q91YS5; Q91Z27;
Entrez ID 98386
Genbank protein ID BAE36563.1; AAH29171.1; BAE30698.1; AAH42522.1; BAE20487.1; BAE20442.1; AAN76314.1; AAH21516.1; AAH14835.1; BAE39298.1; BAC27042.1; AAN76315.1; AAH10261.1; BAE39069.1;
Genbank nucleotide ID XM_006497070.3; XM_017313041.1; NM_133815.2; XM_006497071.3;
Ensembl protein ID ENSMUSP00000005003
Ensembl nucleotide ID ENSMUSG00000004880
Gene name Delta(14)-sterol reductase LBR
Gene symbol Lbr
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 17403717
Functional description Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:18785926). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (PubMed:22140257). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (PubMed:22140257). Anchors the lamina and the heterochromatin to the inner nuclear membrane (By similarity).
Sequence
MPSRKFVEGE VVRGRWPGSS LYYEVEILSH DNKSQLYTVK YKDGTELELK ESDIKPLKSF 60
KQRKSGSISS SPSRRRGSRS RSRSRSRSRS PGRAPKGSRR SVSASHEGDV KEKKEKEMRR 120
EILQVKLTPL VLKPFGNSVS VYNGEPEHME KNATPYKDKQ ERIILSTEDR YIVTQYSLRP 180
RREEVKAKEI ESEEQNLVTK GPAPLGTFQV TTPQRKDLEF GGVPGAVLIM LGLPACVLLL 240
LLQCRQKDPG LLHFPPPLPA LHELWEPRVC GVYLLWFFVQ ALFHLLPVGK VAEGTPLVDG 300
RRLQYRLNGL YAFILTSAAL GAAVFWGVEL CYLYTHFLQL ALAATGFSVL LSAYLYVRSL 360
RAPREELSPA SSGNAVYDFF IGRELNPRLG AFDLKFFCEL RPGLIGWVVI NLVMLLMEMK 420
IQERAAPSLA MILVNSFQLL YVVDALWNEE ALLTSMDIMH DGFGFMLAFG DLVWVPFTYS 480
LQAFYLVSHP HDLSWPLASV IIALKLCGYV IFRCANSQKN AFRKNPTDPK LAHLKTIHTS 540
TGKSLLVSGW WGFVRHPNYL GDLIMALAWS LPCGFNHLLP YFYIIYFTAL LIHREARDEH 600
QCRRKYGLAW EKYCQRVPYR IFPYIY 626

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologLBR509348A6QQV8Bos taurusPredictionMore>>
1:1 orthologLBR490391E2QV27Canis lupus familiarisPredictionMore>>
1:1 orthologLBR100056997A0A3Q2GWX9Equus caballusPredictionMore>>
1:1 orthologLBR3930Q14739Homo sapiensPredictionMore>>
1:1 orthologLbr98386Q3U9G9CPOMus musculusPublicationMore>>
1:1 orthologLBR457776H2Q178Pan troglodytesPredictionMore>>
1:1 orthologLBRM3VH35Sus scrofaPredictionMore>>
1:1 orthologLBR100345014G1SCZ4Oryctolagus cuniculusPredictionMore>>
1:1 orthologA0A0G2JU83Rattus norvegicusPredictionMore>>
1:1 orthologlbrQ5RJ97Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003677 DNA bindingIEA
GO:0005515 protein bindingIPI
GO:0008139 nuclear localization sequence bindingISO
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donorsIBA
GO:0050613 delta14-sterol reductase activityISO
GO:0050613 delta14-sterol reductase activityIMP
GO:0051087 chaperone bindingISO
GO:0070087 chromo shadow domain bindingISO
GO:0070402 NADPH bindingISS
GO:0070402 NADPH bindingISO

GO:Biological Process

GO ID GO Term Evidence
GO:0006695 cholesterol biosynthetic processIEA
GO:0006695 cholesterol biosynthetic processISO
GO:0006695 cholesterol biosynthetic processIDA
GO:0006695 cholesterol biosynthetic processIMP
GO:0016126 sterol biosynthetic processIBA
GO:0030223 neutrophil differentiationIMP
GO:0055114 oxidation-reduction processIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISS
GO:0005634 nucleusISO
GO:0005635 nuclear envelopeISO
GO:0005635 nuclear envelopeIDA
GO:0005637 nuclear inner membraneTAS
GO:0005637 nuclear inner membraneIBA
GO:0005643 nuclear poreISO
GO:0005652 nuclear laminaTAS
GO:0005737 cytoplasmISS
GO:0005737 cytoplasmISO
GO:0005789 endoplasmic reticulum membraneISS
GO:0005789 endoplasmic reticulum membraneISO
GO:0016021 integral component of membraneISO
GO:0031965 nuclear membraneISO
GO:0031965 nuclear membraneIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1430728 MetabolismIEA
R-MMU-191273 Cholesterol biosynthesisIEA
R-MMU-212436 Generic Transcription PathwayIEA
R-MMU-556833 Metabolism of lipidsIEA
R-MMU-73857 RNA Polymerase II TranscriptionIEA
R-MMU-74160 Gene expression (Transcription)IEA
R-MMU-8957322 Metabolism of steroidsIEA
R-MMU-8986944 Transcriptional Regulation by MECP2IEA
R-MMU-9022692 Regulation of MECP2 expression and activityIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0152 Cholesterol biosynthesis
KW-0153 Cholesterol metabolism
KW-0963 Cytoplasm
KW-0238 DNA-binding
KW-0256 Endoplasmic reticulum
KW-0325 Glycoprotein
KW-0444 Lipid biosynthesis
KW-0443 Lipid metabolism
KW-0472 Membrane
KW-0539 Nucleus
KW-0560 Oxidoreductase
KW-0597 Phosphoprotein
KW-0675 Receptor
KW-1185 Reference proteome
KW-0752 Steroid biosynthesis
KW-0753 Steroid metabolism
KW-0756 Sterol biosynthesis
KW-1207 Sterol metabolism
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR001171 Ergosterol_biosynth_ERG4_ERG24
IPR019023 Lamin-B_rcpt_of_tudor
IPR018083 Sterol_reductase_CS
IPR002999 Tudor

PROSITE

PROSITE ID PROSITE Term
PS01017 STEROL_REDUCT_1
PS01018 STEROL_REDUCT_2

Pfam

Pfam ID Pfam Term
PF01222 ERG4_ERG24
PF09465 LBR_tudor

Protein-protein interaction

Protein-miRNA interaction