Homo sapiens Gene: LMNA
Summary
InnateDB Gene IDBG-103380.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LMNA
Gene Name lamin A/C
Synonyms CDCD1; CDDC; CMD1A; CMT2B1; EMD2; FPL; FPLD; FPLD2; HGPS; IDC; LDP1; LFP; LGMD1B; LMN1; LMNC; LMNL1; PRO1;
Species Homo sapiens
Ensembl Gene ENSG00000160789
Encoded Proteins
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
lamin A/C
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:156082573-156140089
Strand Forward strand
Band q22
Transcripts
ENST00000368301 ENSP00000357284
ENST00000368300 ENSP00000357283
ENST00000347559 ENSP00000292304
ENST00000361308 ENSP00000355292
ENST00000368299 ENSP00000357282
ENST00000368298
ENST00000368297 ENSP00000357280
ENST00000448611 ENSP00000395597
ENST00000502751
ENST00000495341
ENST00000470835
ENST00000515711
ENST00000470199
ENST00000478063
ENST00000469565
ENST00000502357
ENST00000515459 ENSP00000424518
ENST00000504687 ENSP00000426535
ENST00000473598 ENSP00000421821
ENST00000515824
ENST00000496738
ENST00000498722
ENST00000508500 ENSP00000424977
ENST00000459904
ENST00000506981
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 247 experimentally validated interaction(s) in this database.
They are also associated with 55 interaction(s) predicted by orthology.
Experimentally validated
Total 247 [view]
Protein-Protein 239 [view]
Protein-DNA 8 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 55 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005515 protein binding
Biological Process
GO:0000278 mitotic cell cycle
GO:0006915 apoptotic process
GO:0006921 cellular component disassembly involved in execution phase of apoptosis
GO:0006987 activation of signaling protein activity involved in unfolded protein response
GO:0006997 nucleus organization
GO:0006998 nuclear envelope organization
GO:0007077 mitotic nuclear envelope disassembly
GO:0007084 mitotic nuclear envelope reassembly
GO:0007517 muscle organ development
GO:0030334 regulation of cell migration
GO:0030951 establishment or maintenance of microtubule cytoskeleton polarity
GO:0030968 endoplasmic reticulum unfolded protein response
GO:0034504 protein localization to nucleus
GO:0035105 sterol regulatory element binding protein import into nucleus
GO:0044267 cellular protein metabolic process
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:0005652 nuclear lamina
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0016607 nuclear speck
GO:0048471 perinuclear region of cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
TSLP pathway
REACTOME
IRE1alpha activates chaperones pathway
Unfolded Protein Response (UPR) pathway
XBP1(S) activates chaperone genes pathway
Metabolism of proteins pathway
KEGG
Hypertrophic cardiomyopathy (HCM) pathway
Arrhythmogenic right ventricular cardiomyopathy (ARVC) pathway
Dilated cardiomyopathy pathway
INOH
PID BIOCARTA
Induction of apoptosis through dr3 and dr4/5 death receptors [Biocarta view]
Tnfr1 signaling pathway [Biocarta view]
Hiv-1 nef: negative effector of fas and tnf [Biocarta view]
Caspase cascade in apoptosis [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.594444 Hs.707716
RefSeq NM_001257374 NM_001282624 NM_001282625 NM_001282626 NM_005572 NM_170707 NM_170708
HUGO
OMIM
CCDS CCDS1129 CCDS1131 CCDS58038 CCDS72941 CCDS72942
HPRD 01035
IMGT
EMBL
GenPept
RNA Seq Atlas