U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Lbr lamin B receptor [ Mus musculus (house mouse) ]

Gene ID: 98386, updated on 12-May-2024

Summary

Go to the top of the page Help
Official Symbol
Lbrprovided by MGI
Official Full Name
lamin B receptorprovided by MGI
Primary source
MGI:MGI:2138281
See related
Ensembl:ENSMUSG00000004880 AllianceGenome:MGI:2138281
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ic; C14SR
Summary
Enables delta14-sterol reductase activity. Involved in cholesterol biosynthetic process and neutrophil differentiation. Located in nuclear membrane. Is expressed in several structures, including genitourinary system; gut; hemolymphoid system gland; liver; and lung. Used to study Pelger-Huet anomaly; ichthyosis vulgaris; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in Greenberg dysplasia; Pelger-Huet anomaly; and primary biliary cholangitis. Orthologous to human LBR (lamin B receptor). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in thymus adult (RPKM 51.5), liver E14 (RPKM 40.4) and 26 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Lbr in Genome Data Viewer
Location:
1 H5; 1 84.89 cM
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (181642880..181669933, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (181815315..181842401, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene dynein, axonemal, heavy chain 14 Neighboring gene STARR-seq mESC enhancer starr_03241 Neighboring gene predicted gene, 33612 Neighboring gene STARR-seq mESC enhancer starr_03242 Neighboring gene predicted gene, 23690 Neighboring gene STARR-positive B cell enhancer ABC_E5877 Neighboring gene STARR-positive B cell enhancer ABC_E3345 Neighboring gene STARR-seq mESC enhancer starr_03245 Neighboring gene predicted gene 5533 Neighboring gene predicted gene, 33669

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Misexpression of genes lacking CpG islands drives degenerative changes during aging. Lee JY, et al. Sci Adv, 2021 Dec 17. PMID 34910517, Free PMC Article
  2. Accumulation of glycated proteins suggesting premature ageing in lamin B receptor deficient mice. Hause F, et al. Biogerontology, 2018 Feb. PMID 29081010
  3. Dynamics and Structure-Function Relationships of the Lamin B Receptor (LBR). Giannios I, et al. PLoS One, 2017. PMID 28118363, Free PMC Article
  4. Alterations in nuclear structure promote lupus autoimmunity in a mouse model. Singh N, et al. Dis Model Mech, 2016 Aug 1. PMID 27483354, Free PMC Article
  5. Overexpression of Lamin B Receptor Results in Impaired Skin Differentiation. Sola Carvajal A, et al. PLoS One, 2015. PMID 26053873, Free PMC Article

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Lbr deficiency could be related to Premature Ageing reflected by enhanced accumulation of protein glycation as a biomarker for ageing.
    Title: Accumulation of glycated proteins suggesting premature ageing in lamin B receptor deficient mice.
  2. The diffusional mobility of full-length LBR shows significant regional variation along the nuclear envelope, consistent with the existence of discrete LBR microdomains and the occurrence of multiple, asymmetrically-spaced anastomoses along the nuclear envelope-endoplasmic reticulum interface. Native LBR may be "configured" by long-range interactions between adjacent transmembrane domains and parts of the NH2 region.
    Title: Dynamics and Structure-Function Relationships of the Lamin B Receptor (LBR).
  3. These results show a moderate skin differentiation phenotype, which indicates that upregulation of LBR is not the sole contributor to the Hutchinson-Gilford progeria syndrome phenotype.
    Title: Overexpression of Lamin B Receptor Results in Impaired Skin Differentiation.
  4. The N-terminal portion of LBR is probably responsible for the binding to HP1b.
    Title: Intrabody-mediated diverting of HP1β to the cytoplasm induces co-aggregation of H3-H4 histones and lamin-B receptor.
  5. Study identified LBR- and lamin-A/C-dependent mechanisms tethering heterochromatin to the nuclear envelope. The two tethers are sequentially used during cellular differentiation and development: first the LBR- and then the lamin-A/C-dependent tether.
    Title: LBR and lamin A/C sequentially tether peripheral heterochromatin and inversely regulate differentiation.
  6. LBR deficiency affects not only nuclear architecture but also proliferation, cell viability, and gene expression of hematopoietic cells
    Title: Reduced lymphocyte longevity and homeostatic proliferation in lamin B receptor-deficient mice results in profound and progressive lymphopenia.
  7. sterol Delta(14) reductase domain of LBR plays a critical role in cholesterol biosynthesis and that this process is essential to both myeloid cell growth and functional maturation.
    Title: Lamin B receptor regulates the growth and maturation of myeloid progenitors via its sterol reductase domain: implications for cholesterol biosynthesis in regulating myelopoiesis.
  8. lamin B receptor, although residing in nuclear membranes, may contribute to cholesterol biosynthesis in Tm7sf2((-/-)) mice
    Title: Disruption of the gene encoding 3beta-hydroxysterol Delta-reductase (Tm7sf2) in mice does not impair cholesterol biosynthesis.
  9. Lbr, under transcriptional regulation of C/EBPepsilon, is necessary for morphological but not necessarily functional granulocyte maturation.
    Title: The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils.
Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables NADPH binding ISO
Inferred from Sequence Orthology
more info
  
enables chromo shadow domain binding ISO
Inferred from Sequence Orthology
more info
  
enables delta14-sterol reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables delta14-sterol reductase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables delta14-sterol reductase activity ISO
Inferred from Sequence Orthology
more info
  
enables nuclear localization sequence binding ISO
Inferred from Sequence Orthology
more info
  
enables oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-folding chaperone binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cholesterol biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in neutrophil differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within steroid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within sterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
  
is_active_in nuclear inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nuclear inner membrane ISO
Inferred from Sequence Orthology
more info
  
located_in nuclear inner membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear lamina TAS
Traceable Author Statement
more info
 PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
  
part_of nuclear pore ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
delta(14)-sterol reductase LBR
Names
3-beta-hydroxysterol Delta (14)-reductase
C-14 sterol reductase
delta-14-SR
ichthyosis
integral nuclear envelope inner membrane protein
sterol C14-reductase
NP_001408120.1
NP_001408121.1
NP_001408122.1
NP_001408123.1
NP_001408124.1
NP_001408125.1
NP_001408126.1
NP_598576.2
XP_006497133.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001421191.1 → NP_001408120.1  delta(14)-sterol reductase LBR isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC165229
    UniProtKB/Swiss-Prot
    Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27

  2. NM_001421192.1 → NP_001408121.1  delta(14)-sterol reductase LBR isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC165229
    UniProtKB/Swiss-Prot
    Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27

  3. NM_001421193.1 → NP_001408122.1  delta(14)-sterol reductase LBR isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC165229
    UniProtKB/Swiss-Prot
    Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27

  4. NM_001421194.1 → NP_001408123.1  delta(14)-sterol reductase LBR isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC165229
    UniProtKB/Swiss-Prot
    Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27

  5. NM_001421195.1 → NP_001408124.1  delta(14)-sterol reductase LBR isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC165229

  6. NM_001421196.1 → NP_001408125.1  delta(14)-sterol reductase LBR isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC165229

  7. NM_001421197.1 → NP_001408126.1  delta(14)-sterol reductase LBR isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC165229

  8. NM_133815.3 → NP_598576.2  delta(14)-sterol reductase LBR isoform 1

    See identical proteins and their annotated locations for NP_598576.2

    Status: VALIDATED

    Source sequence(s)
    AC165229
    Consensus CDS
    CCDS15584.1
    UniProtKB/Swiss-Prot
    Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
    Related
    ENSMUSP00000005003.7, ENSMUST00000005003.12
    Conserved Domains (2) summary
    pfam09465
    Location:1 → 55
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:216 → 626
    PEMT; Phospholipid methyltransferase

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    181642880..181669933 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006497070.5 → XP_006497133.1  delta(14)-sterol reductase LBR isoform X1

    See identical proteins and their annotated locations for XP_006497133.1

    UniProtKB/Swiss-Prot
    Q3TSW2, Q3U9G9, Q811V8, Q811V9, Q8BST3, Q8K2Y8, Q8VDM0, Q91YS5, Q91Z27
    Conserved Domains (2) summary
    pfam09465
    Location:1 → 55
    LBR_tudor; Lamin-B receptor of TUDOR domain
    cl21511
    Location:216 → 626
    PEMT; Phospholipid methyltransferase
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3U9G9.2 GenPept UniProtKB/Swiss-Prot:Q3U9G9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous