Biomarker: lamin A

Histology type: endometrial carcinoma

Stage: low grade

Country: Italy

Region: Rome

Study type: retrospective study

Followed up time :

Subgroup 1 name : G1 EECs

Subgroup 1 number: 29

Subgroup 2 name: G2-G3 EECs

Subgroup 2 number: 49

Conclusion: We identified lamin A expression levels as novel potential biomarkers useful to identify G1 ECs patients with risk of recurrence.

Sample type : tissue

Sample method: quantitative PCR / western blotting /immunoblotting

Expression pattern : expression

Statictics: Mean ;Range

Cohort age: 63;42-88

Subgroup 1 age: 58;42-76

Subgroup 2 age: 66;43-88

Funtion Uniprot: 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. Recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (PubMed:31548606). 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 (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920).13 Publications 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.

UniProt ID: P02545

UniProt Link: https://www.uniprot.org/uniprotkb/P02545/entry

Molecular function from UniProt:

Tissue specificity from UniProt: 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.

Subcellular UniProt: #Intermediate filament #Nucleus

Alternative name from UniProt:

Miscellaneous: There are three types of lamins in human cells: A, B, and C. The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively.

Recommended name: Prelamin-A/C

Gene name from HGNC: LMNA (CMD1A, HGPS, LGMD1B, LMN1, LMNL1, MADA, PRO1)

HPA class: Cancer-related genes Disease related genes Human disease related genes Plasma proteins factors Transporters

AlphaFold DB: P02545

AlphaFold Link: https://alphafold.ebi.ac.uk/entry/P02545

HPA link: https://www.proteinatlas.org/ENSG00000160789-LMNA

Tissue specificity RNA from HPA: Low tissue specificity

Tissue expression from HPA: Distinct nuclear membrane expression in all cell types.

Single cell type specificity Cell type enhanced (Langerhans cells)

Immune cell specificity: Immune cell enhanced (myeloid DC, T-reg)

Subcellular summary HPA Located in Nuclear speckles

Cancer prognostic summary HPA Gene product is not prognostic

Pathology link: https://www.proteinatlas.org/ENSG00000160789-LMNA/pathology

Pathology endo: https://www.proteinatlas.org/ENSG00000160789-LMNA/pathology/endometrial+cancer

Phenotype ID: 181350

Disease: Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2)

Note1: The disease is caused by variants affecting the gene represented in this entry

OMIM: 150330

OMIM link1: https://www.omim.org/entry/181350

OMIM link2: https://www.omim.org/entry/150330

HGNC ID: HGNC:6636

HGNC link: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:6636