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

Gene ID: 98386, updated on 27-Nov-2024

Summary

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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 chromatin-protein adaptor activity and delta14-sterol reductase activity. Involved in cholesterol biosynthetic process; neutrophil differentiation; and random inactivation of X chromosome. Located in nuclear membrane. Is active in nuclear lamina. Is expressed in several structures, including brain; genitourinary system; gut; hemolymphoid system gland; and liver. 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, Nov 2024]
Expression
Broad expression in thymus adult (RPKM 51.5), liver E14 (RPKM 40.4) and 26 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Granulocytic nuclear differentiation of lamin B receptor-deficient mouse EPRO cells. Zwerger M, et al. Exp Hematol, 2008 Aug. PMID 18495328, Free PMC Article
  2. Overexpression of Lamin B Receptor Results in Impaired Skin Differentiation. Sola Carvajal A, et al. PLoS One, 2015. PMID 26053873, Free PMC Article
  3. 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
  4. Dynamics and Structure-Function Relationships of the Lamin B Receptor (LBR). Giannios I, et al. PLoS One, 2017. PMID 28118363, Free PMC Article
  5. Mouse neutrophils lacking lamin B-receptor expression exhibit aberrant development and lack critical functional responses. Gaines P, et al. Exp Hematol, 2008 Aug. PMID 18550262, Free PMC Article

See all (78) 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.
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Variation

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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 NADPH binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables chromatin-protein adaptor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables chromo shadow domain binding IEA
Inferred from Electronic Annotation
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 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 IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in neutrophil differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in random inactivation of X chromosome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
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 
is_active_in nuclear lamina IDA
Inferred from Direct Assay
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
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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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)

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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.

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