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LMNA

GENERAL INFORMATION

Gene name

 LMNA

Gene description

 Lamin A/C

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 10
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Expressed in all
HPA (normal tissue):Expressed in all

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Distinct nuclear membrane expression in all cell types.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA006660 , CAB004022
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA006660
CAB004022

GENE INFORMATION

Gene name

 LMNA (HGNC Symbol)

Synonyms

 CMD1A, HGPS, LGMD1B, LMN1, LMNL1, PRO1

Description

 Lamin A/C (HGNC Symbol)

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]

Chromosome

 1

Cytoband

 q22

Chromosome location (bp)

 156082573 - 156140089

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000160789 (version 83.38)

Entrez gene

 4000

UniProt

 P02545 (UniProt - Evidence at protein level)

neXtProt

 NX_P02545

Antibodypedia

 LMNA antibodies

PROTEIN BROWSER
LMNA-001
LMNA-002
LMNA-004
LMNA-006
LMNA-007
LMNA-017
LMNA-020
LMNA-028
LMNA-201
LMNA-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
LMNA-001
ENSP00000357283
ENST00000368300
P02545 [Direct mapping]
Prelamin-A/C Lamin-A/C
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
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:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0006997 [nucleus organization]
GO:0006998 [nuclear envelope organization]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007084 [mitotic nuclear envelope reassembly]
GO:0007283 [spermatogenesis]
GO:0007517 [muscle organ development]
GO:0008157 [protein phosphatase 1 binding]
GO:0009612 [response to mechanical stimulus]
GO:0012501 [programmed cell death]
GO:0016363 [nuclear matrix]
GO:0016607 [nuclear speck]
GO:0030334 [regulation of cell migration]
GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031965 [nuclear membrane]
GO:0034504 [protein localization to nucleus]
GO:0035105 [sterol regulatory element binding protein import into nucleus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0044267 [cellular protein metabolic process]
GO:0045669 [positive regulation of osteoblast differentiation]
GO:0048471 [perinuclear region of cytoplasm]
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:1904178 [negative regulation of adipose tissue development]
GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway]
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 664 aa
74.1 kDa 		No 0
LMNA-002
ENSP00000357284
ENST00000368301
P02545 [Direct mapping]
Prelamin-A/C Lamin-A/C
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
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:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007084 [mitotic nuclear envelope reassembly]
GO:0007517 [muscle organ development]
GO:0012501 [programmed cell death]
GO:0016607 [nuclear speck]
GO:0030334 [regulation of cell migration]
GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031965 [nuclear membrane]
GO:0034504 [protein localization to nucleus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0044267 [cellular protein metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071456 [cellular response to hypoxia]
GO:0090343 [positive regulation of cell aging]
Show all
 572 aa
65.1 kDa 		No 0
LMNA-004
ENSP00000357282
ENST00000368299
P02545 [Direct mapping]
Prelamin-A/C Lamin-A/C
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
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:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007084 [mitotic nuclear envelope reassembly]
GO:0007517 [muscle organ development]
GO:0012501 [programmed cell death]
GO:0016607 [nuclear speck]
GO:0030334 [regulation of cell migration]
GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031965 [nuclear membrane]
GO:0034504 [protein localization to nucleus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0044267 [cellular protein metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071456 [cellular response to hypoxia]
GO:0090343 [positive regulation of cell aging]
Show all
 614 aa
69.2 kDa 		No 0
LMNA-006
ENSP00000421821
ENST00000473598
P02545 [Direct mapping]
Prelamin-A/C Lamin-A/C
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
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:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007084 [mitotic nuclear envelope reassembly]
GO:0007517 [muscle organ development]
GO:0012501 [programmed cell death]
GO:0016607 [nuclear speck]
GO:0030334 [regulation of cell migration]
GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031965 [nuclear membrane]
GO:0034504 [protein localization to nucleus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0044267 [cellular protein metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071456 [cellular response to hypoxia]
GO:0090343 [positive regulation of cell aging]
Show all
 565 aa
62.9 kDa 		No 0
LMNA-007
ENSP00000357280
ENST00000368297
Q5TCI8 [Direct mapping]
Prelamin-A/C
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005882 [intermediate filament]
Show all
 491 aa
55.8 kDa 		No 0
LMNA-017
ENSP00000395597
ENST00000448611
P02545 [Direct mapping]
Prelamin-A/C Lamin-A/C
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
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:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007084 [mitotic nuclear envelope reassembly]
GO:0007517 [muscle organ development]
GO:0012501 [programmed cell death]
GO:0016607 [nuclear speck]
GO:0030334 [regulation of cell migration]
GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031965 [nuclear membrane]
GO:0034504 [protein localization to nucleus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0044267 [cellular protein metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071456 [cellular response to hypoxia]
GO:0090343 [positive regulation of cell aging]
Show all
 574 aa
63.9 kDa 		No 0
LMNA-020
ENSP00000424977
ENST00000508500
A0A0C4DGC5 [Direct mapping]
Prelamin-A/C
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
Show all
 260 aa
27.5 kDa 		No 0
LMNA-028
ENSP00000426535
ENST00000504687
H0YAB0 [Direct mapping]
Prelamin-A/C
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
Show all
 182 aa
20.8 kDa 		No 0
LMNA-201
ENSP00000292304
ENST00000347559
P02545 [Direct mapping]
Prelamin-A/C Lamin-A/C
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
   Candidate cancer biomarkers
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000278 [mitotic cell cycle]
GO:0005198 [structural molecule activity]
GO:0005515 [protein binding]
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:0006915 [apoptotic process]
GO:0006921 [cellular component disassembly involved in execution phase of apoptosis]
GO:0007077 [mitotic nuclear envelope disassembly]
GO:0007084 [mitotic nuclear envelope reassembly]
GO:0007517 [muscle organ development]
GO:0012501 [programmed cell death]
GO:0016607 [nuclear speck]
GO:0030334 [regulation of cell migration]
GO:0030951 [establishment or maintenance of microtubule cytoskeleton polarity]
GO:0030968 [endoplasmic reticulum unfolded protein response]
GO:0031965 [nuclear membrane]
GO:0034504 [protein localization to nucleus]
GO:0036498 [IRE1-mediated unfolded protein response]
GO:0044267 [cellular protein metabolic process]
GO:0048471 [perinuclear region of cytoplasm]
GO:0071456 [cellular response to hypoxia]
GO:0090343 [positive regulation of cell aging]
Show all
 634 aa
70.7 kDa 		No 0
LMNA-202
ENSP00000355292
ENST00000361308
Q3BDU5 [Direct mapping]
Prelamin-A/C; Rhabdomyosarcoma antigen MU-RMS-40.12
Show all
Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
Show all
 487 aa
55.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.