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

Summary

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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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).
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.
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.
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.
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.
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.
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.
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)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (6) 1 citation
Gene trapped (3) 1 citation
Spontaneous (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 1.3.1.70

NP_001408121.1

EC 1.3.1.70

NP_001408122.1

EC 1.3.1.70

NP_001408123.1

EC 1.3.1.70

NP_001408124.1

EC 1.3.1.70

NP_001408125.1

EC 1.3.1.70

NP_001408126.1

EC 1.3.1.70

NP_598576.2

EC 1.3.1.70

XP_006497133.1

EC 1.3.1.70

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)

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

Status: VALIDATED

Source sequence(s)

AC165229
NM_001421196.1 → NP_001408125.1 delta(14)-sterol reductase LBR isoform 3

Status: VALIDATED

Source sequence(s)

AC165229
NM_001421197.1 → NP_001408126.1 delta(14)-sterol reductase LBR isoform 4

Status: VALIDATED

Source sequence(s)

AC165229
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