Lamin B1

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

LMNB1
Protein LMNB1 PDB 2KPW.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLMNB1, ADLD, LMN, LMN2, LMNB, lamin B1
External IDsOMIM: 150340 MGI: 96795 HomoloGene: 55912 GeneCards: LMNB1
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for LMNB1
Genomic location for LMNB1
Band5q23.2Start126,776,623 bp[1]
End126,837,020 bp[1]
RNA expression pattern
PBB GE LMNB1 203276 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001198557
NM_005573

NM_010721

RefSeq (protein)

NP_001185486
NP_005564

NP_034851

Location (UCSC)Chr 5: 126.78 – 126.84 MbChr 18: 56.71 – 56.75 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

InteractionsEdit

LMNB1 has been shown to interact with Thymopoietin.[8][9]

PathologyEdit

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

See alsoEdit

ReferencesEdit

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000113368 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024590 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lin F, Worman HJ (Nov 1995). "Structural organization of the human gene (LMNB1) encoding nuclear lamin B1". Genomics. 27 (2): 230–6. doi:10.1006/geno.1995.1036. PMID 7557986.
  6. ^ Wydner KL, McNeil JA, Lin F, Worman HJ, Lawrence JB (Feb 1997). "Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization". Genomics. 32 (3): 474–8. doi:10.1006/geno.1996.0146. PMID 8838815.
  7. ^ a b "Entrez Gene: LMNB1 lamin B1".
  8. ^ Furukawa, K; Kondo T (Feb 1998). "Identification of the lamina-associated-polypeptide-2-binding domain of B-type lamin". Eur. J. Biochem. GERMANY. 251 (3): 729–33. doi:10.1046/j.1432-1327.1998.2510729.x. ISSN 0014-2956. PMID 9490046.
  9. ^ Foisner, R; Gerace L (Jul 1993). "Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation". Cell. UNITED STATES. 73 (7): 1267–79. doi:10.1016/0092-8674(93)90355-T. ISSN 0092-8674. PMID 8324822.

Further readingEdit