Tbio LMNA Prelamin-A/C

Protein Summary

Description

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 (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). 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. 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. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]

Uniprot Accession IDs

• P02545
• B4DI32
• D3DVB0
• D6RAQ3
• E7EUI9
• P02546
• Q5I6Y4
• Q5I6Y6
• Q5TCJ2
• Q5TCJ3
• Q6UYC3
• Q969I8
• Q96JA2

Gene Name

• LMNA

Ensembl ID

• ENST00000347559
• ENSP00000292304
• ENSG00000160789
• ENST00000368299
• ENSP00000357282
• ENST00000368300
• ENSP00000357283
• ENST00000368301
• ENSP00000357284
• ENST00000448611
• ENSP00000395597
• ENST00000473598
• ENSP00000421821

Symbol

• LMN1
• FPL
• IDC
• LFP
• CDDC
• EMD2
• FPLD
• HGPS
• LDP1
• LMN1
• LMNC
• MADA
• PRO1
• CDCD1
• CMD1A
• FPLD2
• LMNL1
• CMT2B1
• LGMD1B

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
hub protein	1
interacting protein	1
ligand (protein) perturbation	1
transcription factor perturbation	1
biological process	0.97

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2740.51   (req: < 5)

Gene RIFs: 618   (req: <= 3)

Antibodies: 1465   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2740.51   (req: >= 5)

Gene RIFs: 618   (req: > 3)

Antibodies: 1465   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 24

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0