InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-103382

lamin A/C

IDBP-103384

lamin A/C

IDBP-103386

lamin A/C

IDBP-103388

lamin A/C

IDBP-103392

lamin A/C

IDBP-103396

lamin A/C

IDBP-389040

lamin A/C

IDBP-474534

lamin A/C

IDBP-475574

lamin A/C

IDBP-475077

lamin A/C

IDBP-483268

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

ENSMUSG00000028063

View Gene Order

ENSBTAG00000017574

Not yet available

Pathways

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

P02545

TrEMBL

UniProt Splice Variant

Entrez Gene

4000

UniGene

Hs.594444 Hs.707716

RefSeq

NM_001257374 NM_001282624 NM_001282625 NM_001282626 NM_005572 NM_170707 NM_170708

HUGO

HGNC:6636

OMIM

150330

CCDS

CCDS1129 CCDS1131 CCDS58038 CCDS72941 CCDS72942

HPRD

01035

IMGT

EMBL

AF381029 AK295390 AL135927 AL355388 AL356734 AY357727 AY847595 AY847597 BC000511 BC003162 BC014507 CH471121 M13451 M13452 X03444 X03445

GenPept

AAA36160 AAA36164 AAH00511 AAH03162 AAH14507 AAK59326 AAR29466 AAW32538 AAW32540 BAG58344 CAA27173 CAA27174 CAI15521 CAI15522 EAW52997 EAW52999

RNA Seq Atlas

4000