| Gene Information | |
|---|---|
| Gene Name | LMN1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 664 |
| Protein Names | Prelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)] |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P02545 |
| Gene Card | LMNA |
| Uniprot ID | P02545 |
| Pfam | PF00038; PF00932 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| 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. {ECO:0000269|PubMed:20458013}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.002024(Rat);0.013333(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1IFR (X-ray 1.40A ) 1IVT (NMR - ) 1X8Y (X-ray 2.20A ) 2XV5 (X-ray 2.40A ) 2YPT (X-ray 3.80A ) 3GEF (X-ray 1.50A ) 3V4Q (X-ray 3.06A ) 3V4W (X-ray 3.70A ) 3V5B (X-ray 3.00A ) 6GHD (X-ray 2.10A ) 6JLB (X-ray 3.21A ) 6RPR (X-ray 2.26A ) 6SNZ (X-ray 2.60A ) 6YF5 (X-ray 1.83A ) 6YJD (X-ray 2.90A ) 7CRG (X-ray 1.80A ) 7D9N (X-ray 3.70A ) 7Z21 (X-ray 1.63A ) |
| DBSNP | rs57077886 rs58327533 rs61578124 rs59914820 rs57966821 rs267607614 rs56694480 rs57983345 rs60446065 rs58436778 rs60695352 rs59931416 rs28928903 rs58922911 rs28928900 rs56793579 rs57793737 rs57793737 rs28933090 rs59040894 rs267607560 rs59065411 rs267607568 rs267607605 rs60864230 rs60864230 rs267607649 rs60652225 rs60652225 rs58912633 rs61661343 rs60310264 rs58917027 rs28933093 rs267607570 rs267607643 rs267607571 rs59026483 rs57045855 rs28933091 rs28933092 rs61195471 rs267607629 rs267607572 rs61295588 rs58034145 rs28928901 rs199474724 rs61214927 rs57207746 rs58850446 rs59332535 rs121912496 rs57048196 rs267607630 rs267607641 rs61616775 rs267607633 rs59885338 rs79907212 rs267607596 rs61527854 rs56816490 rs267607574 rs58105277 rs61177390 rs58789393 rs60458016 rs267607634 rs59653062 rs61672878 rs61672878 rs121912495 rs267607545 rs267607576 rs58672172 rs61094188 rs267607647 rs766811975 rs267607606 rs755686359 rs267607564 rs150840924 rs62636506 rs58541611 rs267607637 rs267607598 rs58932704 rs267607638 rs267607597 rs267607599 rs60992550 rs61235244 rs267607642 rs61282106 rs267607639 rs57394692 rs28928902 rs267607578 rs57747780 rs11575937 rs11575937 rs57920071 rs59981161 rs267607607 rs58362413 rs201583907 rs57318642 rs57520892 rs57520892 rs57629361 rs57629361 rs60580541 rs60934003 rs56984562 rs61444459 rs61444459 rs56984562 rs56673169 rs60890628 rs61224243 rs57830985 rs60662302 rs61064130 rs13768 rs267607648 rs142000963 |
| Subcellular location [CC] | Nucleus {ECO:0000269|PubMed:15372542, ECO:0000269|PubMed:31548606}. Nucleus envelope {ECO:0000269|PubMed:29599122}. Nucleus lamina. Nucleus, nucleoplasm. Nucleus matrix {ECO:0000269|PubMed:31548606}. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope targeting and subsequent cleavage 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 {ECO:0000269|PubMed:16061563}. |
| Mouse PG classification | NA |
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