Lamin B receptor

Lamin-B receptor is a protein, and in humans, it is encoded by the LBR gene.^[5][6][7]

LBR
Available structures PDB Ortholog search: C9JXK0 PDBe C9JXK0 RCSB List of PDB id codes 2DIG
Identifiers
Aliases	LBR, DHCR14B, LMN2R, PHA, TDRD18, lamin B receptor, PHASK, C14SR
External IDs	OMIM: 600024; MGI: 2138281; HomoloGene: 2455; GeneCards: LBR; OMA:LBR - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.12 Start 225,401,502 bp[1] End 225,428,925 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H5|1 84.89 cM Start 181,642,900 bp[2] End 181,670,611 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone bone marrow thymus bone marrow cell ventricular zone muscle layer of sigmoid colon seminal vesicula appendix visceral pleura mononuclear cell Top expressed in tibiofemoral joint fetal liver hematopoietic progenitor cell granulocyte mesenteric lymph nodes human fetus thymus abdominal wall hair follicle primitive streak mandibular prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function oxidoreductase activity, acting on the CH-CH group of donors DNA binding oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor protein binding chromo shadow domain binding lamin binding delta14-sterol reductase activity RNA binding NADPH binding oxidoreductase activity Cellular component integral component of membrane integral component of endoplasmic reticulum membrane nuclear inner membrane integral component of nuclear inner membrane nuclear membrane nuclear envelope membrane nucleus cytoplasm endoplasmic reticulum membrane endoplasmic reticulum Biological process cholesterol biosynthetic process sterol biosynthetic process neutrophil differentiation lipid metabolism steroid biosynthetic process steroid metabolic process cholesterol metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3930 98386 Ensembl ENSG00000143815 ENSMUSG00000004880 UniProt Q14739 Q3U9G9 RefSeq (mRNA) NM_002296 NM_194442 NM_133815 RefSeq (protein) NP_002287 NP_919424 NP_598576 Location (UCSC) Chr 1: 225.4 – 225.43 Mb Chr 1: 181.64 – 181.67 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localizes to the inner membrane of the nuclear envelope and anchors the lamina and the heterochromatin to the membrane. It may mediate the interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified.^[7]

Clinical significance

There is evidence tying it to Greenberg dysplasia^[8] and Pelger-Huet anomaly.^[9]

Interactions

Lamin B receptor has been shown to interact with CBX3^[10] and CBX5.^[10] LBR also interacts with long non-coding RNA XIST in mouse cells and potentially assist the spreading XIST across X chromosome in differentiating female embryonic stem cells,^[11] but it might be redundant for correct XCI in vivo.^[12]