LMNA report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0055015Biological processventricular cardiac muscle cell development
GO_1903243Biological processnegative regulation of cardiac muscle hypertrophy in response to stress
GO_0008285Biological processnegative regulation of cell population proliferation
GO_0051664Biological processnuclear pore localization
GO_0006998Biological processnuclear envelope organization
GO_0030951Biological processestablishment or maintenance of microtubule cytoskeleton polarity
GO_0090435Biological processprotein localization to nuclear envelope
GO_0072201Biological processnegative regulation of mesenchymal cell proliferation
GO_1990683Biological processDNA double-strand break attachment to nuclear envelope
GO_0090201Biological processnegative regulation of release of cytochrome c from mitochondria
GO_0010628Biological processpositive regulation of gene expression
GO_0031507Biological processheterochromatin formation
GO_0030334Biological processregulation of cell migration
GO_0034504Biological processprotein localization to nucleus
GO_0006606Biological processprotein import into nucleus
GO_0007097Biological processnuclear migration
GO_2001237Biological processnegative regulation of extrinsic apoptotic signaling pathway
GO_0090398Biological processcellular senescence
GO_1900180Biological processregulation of protein localization to nucleus
GO_0031647Biological processregulation of protein stability
GO_0071456Biological processcellular response to hypoxia
GO_0005638Cellular componentlamin filament
GO_0016607Cellular componentnuclear speck
GO_0005654Cellular componentnucleoplasm
GO_0005635Cellular componentnuclear envelope
GO_0016363Cellular componentnuclear matrix
GO_0005652Cellular componentnuclear lamina
GO_0005829Cellular componentcytosol
GO_0031965Cellular componentnuclear membrane
GO_0035861Cellular componentsite of double-strand break
GO_0005634Cellular componentnucleus
GO_0005200Molecular functionstructural constituent of cytoskeleton
GO_0160123Molecular functionstructural constituent of nuclear lamina
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameLMNA
Protein namePrelamin-A/C [Cleaved into: Lamin-A/C (70 kDa lamin) (Renal carcinoma antigen NY-REN-32)]
Lamin A/C
Prelamin-A/C (Rhabdomyosarcoma antigen MU-RMS-40.12)
Epididymis secretory sperm binding protein (Lamin A/C transcript variant 1)
SynonymsLMN1
DescriptionFUNCTION: [Lamin-A/C]: Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane . Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics . Lamin A and C also regulate matrix stiffness by conferring nuclear mechanical properties . 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 . Lamin A and C are present in equal amounts in the lamina of mammals . Also invoved in DNA repair: recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends . 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 . Required for cardiac homeostasis . .; FUNCTION: [Prelamin-A/C]: 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 . .

AccessionsENST00000674720.1
ENST00000473598.6 [P02545-5]
ENST00000675939.1 [P02545-1]
A0A6Q8PFM1
Q5TCI8
W8QEH3
D6RB20
A0A6Q8PF59
ENST00000676208.1
ENST00000677389.1 [P02545-2]
ENST00000515459.5
ENST00000368297.5
ENST00000361308
A0A6Q8PHQ9
ENST00000675667.1
ENST00000504687.7
ENST00000448611.6 [P02545-4]
ENST00000368299.7 [P02545-6]
ENST00000361308.9 [P02545-1]
A0A6Q8PGH0
P02545
ENST00000684195.1
ENST00000674518.1
ENST00000676434.1
ENST00000675874.1
ENST00000675455.1
A0A804HL68
ENST00000368301.6 [P02545-2]
ENST00000676385.2 [P02545-3]
ENST00000675881.1
Q5I6Y5
A0A6Q8PFF5
H0YAB0
ENST00000674600.1
ENST00000368300.9 [P02545-1]
ENST00000683032.1 [P02545-1]
ENST00000682650.1 [P02545-3]
A0A6Q8PF80
A0A6Q8PFJ0
Q3BDU5