InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Lmna

Summary

InnateDB Gene

IDBG-160992.6

Last Modified

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

Gene Symbol

Lmna

Gene Name

lamin A

Synonyms

Dhe

Species

Mus musculus

Ensembl Gene

ENSMUSG00000028063

Encoded Proteins

IDBP-160994

lamin A

IDBP-160996

lamin A

IDBP-401142

lamin A

IDBP-535445

lamin A

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a protein that is a member of the lamin family. Nuclear lamins, intermediate filament-like proteins, are the major components of the nuclear lamina, a protein meshwork associated with the inner nuclear membrane. This meshwork is thought to maintain the integrity of the nuclear envelope, participate in chromatin organization, and regulate gene transcription. Vertebrate lamins consist of two types, A and B. This protein is an A-type and is proposed to be developmentally regulated. In mouse deficiency of this gene is associated with muscular dystrophy. Mouse lines with different mutations in this gene serve as pathophysiological models for several human laminopathies. In humans, 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. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:88481148-88509956

Strand

Reverse strand

Band

Transcripts

ENSMUST00000029699	ENSMUSP00000029699
ENSMUST00000036252	ENSMUSP00000040265
ENSMUST00000120377	ENSMUSP00000113093
ENSMUST00000135494
ENSMUST00000150496
ENSMUST00000147537
ENSMUST00000149068	ENSMUSP00000120784

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 69 experimentally validated interaction(s) in this database.
They are also associated with 71 interaction(s) predicted by orthology.

Experimentally validated
Total	69 [view]
Protein-Protein	68 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	71 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005515	protein binding

Biological Process

GO:0006997	nucleus organization
GO:0006998	nuclear envelope organization
GO:0007517	muscle organ development
GO:0030010	establishment of cell polarity
GO:0030334	regulation of cell migration
GO:0030951	establishment or maintenance of microtubule cytoskeleton polarity
GO:0034504	protein localization to nucleus
GO:0035105	sterol regulatory element binding protein import into nucleus
GO:0055015	ventricular cardiac muscle cell development
GO:0071456	cellular response to hypoxia
GO:0090201	negative regulation of release of cytochrome c from mitochondria
GO:0090343	positive regulation of cell aging
GO:1900180	regulation of protein localization to nucleus
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005638	lamin filament
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005882	intermediate filament
GO:0048471	perinuclear region of cytoplasm

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000160789

View Gene Order

ENSBTAG00000017574

Not yet available

Pathways

NETPATH

REACTOME

REACT_196648

Nuclear Envelope Breakdown pathway

REACT_258521

Apoptosis pathway

REACT_249770

Cell Cycle, Mitotic pathway

REACT_209025

Breakdown of the nuclear lamina pathway

REACT_208002

Nuclear Envelope Reassembly pathway

REACT_239697

Unfolded Protein Response (UPR) pathway

REACT_224460

Apoptotic cleavage of cellular proteins pathway

REACT_188804

Cell Cycle pathway

REACT_241408

M Phase pathway

REACT_247926

Metabolism of proteins pathway

REACT_231085

IRE1alpha activates chaperones pathway

REACT_199403

Mitotic Metaphase and Anaphase pathway

REACT_208718

Depolymerisation of the Nuclear Lamina pathway

REACT_106572

XBP1(S) activates chaperone genes pathway

REACT_210180

Initiation of Nuclear Envelope Reformation pathway

REACT_250557

Mitotic Prophase pathway

REACT_202512

Mitotic Anaphase pathway

REACT_207035

Apoptotic execution phase pathway

REACT_221677

Clearance of Nuclear Envelope Membranes from Chromatin pathway

KEGG

mmu05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

mmu05410

Hypertrophic cardiomyopathy (HCM) pathway

mmu05414

Dilated cardiomyopathy pathway

INOH

PID NCI

Pathway Predictions based on Human Orthology Data

NETPATH

NetPath_24

TSLP pathway

REACTOME

REACT_18273

XBP1(S) activates chaperone genes pathway

REACT_18368

IRE1alpha activates chaperones pathway

REACT_18356

Unfolded Protein Response (UPR) pathway

REACT_17015

Metabolism of proteins pathway

KEGG

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway

hsa05410

Hypertrophic cardiomyopathy (HCM) pathway

hsa05414

Dilated cardiomyopathy pathway

INOH

PID NCI

Cross-References

SwissProt

P48678

TrEMBL

D3YUF7 Q8BNX5

UniProt Splice Variant

Entrez Gene

16905

UniGene

Mm.243014 Mm.471227 Mm.488848

RefSeq

NM_001002011 XM_006501073 NM_001111102 NM_019390

OMIM

CCDS

CCDS38482 CCDS38483 CCDS50951

HPRD

IMGT

MGI ID

MGI:96794

MGI Symbol

Lmna

EMBL

AC102388 AC145168 AK004619 AK079972 AK147150 AK149998 AK150391 AK150501 AK150624 AK152539 AK152646 AK152846 AK161221 AK167858 BC015302 BC094020 CH466547 D13181 D14850 D49733 DQ832702 DQ832703 X14170

GenPept

AAH15302 AAH94020 ABI16251 ABI16252 BAA02476 BAA03578 BAA08569 BAA08570 BAA08571 BAB23415 BAC37795 BAE27717 BAE29226 BAE29519 BAE29614 BAE29714 BAE31294 BAE31384 BAE31539 BAE36246 BAE39876 CAA32372 EDL15275

RNA Seq Atlas

16905