Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019]
Function:
Lamins are type V intermediate filament proteins and are grouped into constitutively expressed B-type lamins and developmentally regulated A-type lamins. Lamin-binding proteins in the nuclear lamina and the nuclear interior include several protein families and/or types of proteins in higher eukaryotes such as the inner nuclear membrane proteins, lamin B receptor, emerin, MANI, three isoforms of lamina-associated polypeptide 1 (LAP 1), and several isoforms of LAP 2. Up to six LAP 2 isoforms derive from a single gene by alternative splicing in mammals and various isoforms have been described in Xenopus. The best characterized LAP2 isoforms are the inner nuclear membrane protein LAP 2 beta and the nucleoplasmic protein LAP 2 alpha, which are identical in their N-terminal 187-amino acid constant region but differ in their C termini. LAP 2 alpha specifically interacts with A-type lamins within the nuclear interior as part of a detergent- and salt-resistant nucleoskeletal structure.
Subunit:
Interacts with LMNA, BANF1 and RB1 and with chromosomes. Associates directly or indirectly with lamins at specific cell-cycle stages.
Subcellular Location:
Nuclear
Tissue Specificity:
Expressed in many tissues. Most abundant in adult thymus and fetal liver.
Post-translational modifications:
Phosphorylated in a mitose-specific manner.
DISEASE:
Cardiomyopathy, dilated 1T (CMD1T) [MIM:613740]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the LEM family.
Contains 1 LEM domain.
Contains 1 LEM-like domain.
SWISS:
P42166
Gene ID:
7112
Database links:
Entrez Gene: 7112 Human
Entrez Gene: 21917 Mouse
Entrez Gene: 25359 Rat
Omim: 188380 Human
SwissProt: P42166 Human
SwissProt: Q61033 Mouse
SwissProt: Q62733 Rat
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