InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LMNB1

Summary

InnateDB Protein

IDBP-39469.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LMNB1

Protein Name

lamin B1

Synonyms

ADLD; LMN; LMN2; LMNB;

Species

Homo sapiens

Ensembl Protein

ENSP00000261366

InnateDB Gene

IDBG-39467 (LMNB1)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.

Disease Associations

Leukodystrophy, demyelinating, autosomal dominant, adult- onset (ADLD) [MIM:169500]: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. {ECO:0000269PubMed:16951681}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 68 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	68 [view]
Protein-Protein	68 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0043274	phospholipase binding

Biological Process

GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis

Cellular Component

GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005637	nuclear inner membrane
GO:0005638	lamin filament
GO:0005654	nucleoplasm
GO:0005882	intermediate filament
GO:0016020	membrane
GO:0031965	nuclear membrane