Lamin B1

Lamin-B1 is a protein that in humans is encoded by the LMNB1 gene.^[5][6][7]

LMNB1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KPW, 3JT0, 3TYY, 3UMN
Identifiers
Aliases	LMNB1, ADLD, LMN, LMN2, LMNB, lamin B1, MCPH26
External IDs	OMIM: 150340; MGI: 96795; HomoloGene: 55912; GeneCards: LMNB1; OMA:LMNB1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q23.2 Start 126,776,623 bp[1] End 126,837,020 bp[1]
Gene location (Mouse) Chr. Chromosome 18 (mouse)[2] Band 18 D3|18 30.84 cM Start 56,840,885 bp[2] End 56,886,496 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence monocyte rectum appendix mucosa of transverse colon bone marrow blood bone marrow cells buccal mucosa cell Top expressed in ventricular zone granulocyte tail of embryo epiblast abdominal wall genital tubercle thymus yolk sac ganglionic eminence medial ganglionic eminence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phospholipase binding structural molecule activity protein binding double-stranded DNA binding sequence-specific double-stranded DNA binding Cellular component nuclear matrix nuclear inner membrane nuclear membrane membrane intermediate filament lamin filament nucleoplasm nucleus nuclear envelope Biological process interleukin-12-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4001 16906 Ensembl ENSG00000113368 ENSMUSG00000024590 UniProt P20700 P14733 RefSeq (mRNA) NM_001198557 NM_005573 NM_010721 RefSeq (protein) NP_001185486 NP_005564 NP_034851 Location (UCSC) Chr 5: 126.78 – 126.84 Mb Chr 18: 56.84 – 56.89 Mb PubMed search [3] [4]
Wikidata
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The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure, and gene expression. Vertebrate lamins consist of two types, A and B. This gene encodes one of the two B type proteins, B1.^[7] Lamin B, along with heterochromatin, is anchored to the inner surface of the nuclear membrane by the lamin B receptor.

Interactions

LMNB1 has been shown to interact with Thymopoietin.^[8][9] When double-strand breaks are induced in DNA by ionizing radiation, lamin B1 promotes repair of the breaks, as well as cell survival, by maintaining the level of the RAD51 protein that is employed in homologous recombinational repair.^[10]

Pathology

Mutations affecting the LMNB1 gene cause autosomal dominant adult-onset demyelinating leukodystrophy.

See also

• Lamin B2