LMNA_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)

Gene names: LMNA , LMN1
Protein names and data: LMNA_HUMAN , Prelamin-A/C; Lamin-A/C , 70 kDa lamin; Renal carcinoma antigen NY-REN-32; Flags: Precursor Lenght: 664 a.a.
Mass: 74139 Da
fasta formatted sequence

Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation. Required for osteoblastogenesis and bone formation. Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone. Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.
Disease:
Cellular location: Nucleus. Nucleus envelope. Nucleus lamina. Nucleus, nucleoplasm. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin- A/C, which can then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C. Isoform C: Nucleus speckle.
Tissue specificity: In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response to oxidative stress.

Genetic variants

Database cross-references

UniProt: P02545
Ensembl: ENST00000347559
Ensembl: ENST00000361308
Ensembl: ENST00000368300
Ensembl: ENST00000368301
Ensembl: ENST00000448611
Ensembl: ENST00000508500
MIM: 115200
MIM: 150330
MIM: 151660
MIM: 159001
MIM: 176670
MIM: 181350
MIM: 212112
MIM: 248370
MIM: 275210
MIM: 605588
MIM: 610140
MIM: 613205
neXtProt: NX_P02545
Antibodypedia: P02545 (may not find the protein thus also not any antibody)
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