Protein Description

Gene Symbol LMNA
Entrez ID 4000
Uniprot ID P02545
Description lamin A/C
Chromosomal Location chr1: 156,082,573-156,140,089
Ontology GO ID GO Term Definition Evidence

BP

GO:0007077

mitotic nuclear envelope disassembly

The cell cycle process in which the controlled breakdown of the nuclear envelope during mitotic cell division occurs.

TAS

BP

GO:0007084

mitotic nuclear envelope reassembly

The cell cycle process that results in reformation of the nuclear envelope during mitotic cell division.

TAS

BP

GO:0030334

regulation of cell migration

Any process that modulates the frequency, rate or extent of cell migration.

ISS

BP

GO:0030951

establishment or maintenance of microtubule cytoskeleton polarity

Any cellular process that results in the specification, formation or maintenance of polarized microtubule-based cytoskeletal structures.

ISS

BP

GO:0034504

protein localization to nucleus

A process in which a protein is transported to, or maintained in, a location within the nucleus.

ISS

BP

GO:0035105

sterol regulatory element binding protein import into nucleus

The transfer of a sterol regulatory element binding protein (SREBP) into the nucleus, across the nuclear membrane, in response to altered levels of one or more lipids. SREBPs are transcription factors that bind sterol regulatory elements (SREs), DNA motifs found in the promoters of target genes.

IEA

BP

GO:0036498

IRE1-mediated unfolded protein response

A series of molecular signals mediated by the endoplasmic reticulum stress sensor IRE1 (Inositol-requiring transmembrane kinase/endonuclease). Begins with activation of IRE1 in response to endoplasmic reticulum (ER) stress, and ends with regulation of a downstream cellular process, e.g. transcription. One target of activated IRE1 is the transcription factor HAC1 in yeast, or XBP1 in mammals; IRE1 cleaves an intron of a mRNA coding for HAC1/XBP1 to generate an activated HAC1/XBP1 transcription factor, which controls the up regulation of UPR-related genes. At least in mammals, IRE1 can also signal through additional intracellular pathways including JNK and NF-kappaB.

TAS

BP

GO:0055015

ventricular cardiac muscle cell development

The process whose specific outcome is the progression of a ventricular cardiac muscle cell over time, from its formation to the mature state. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. The ventricle is the part of the heart that pumps blood out of the organ.

IEA

BP

GO:0071456

cellular response to hypoxia

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.

IEP

BP

GO:0072201

negative regulation of mesenchymal cell proliferation

Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.

IEA

BP

GO:0090201

negative regulation of release of cytochrome c from mitochondria

Any process that decreases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation.

IEA

BP

GO:0090343

positive regulation of cell aging

Any process that increases the rate, frequency, or extent of cell aging. Cell aging is the progression of the cell from its inception to the end of its lifespan.

IDA

BP

GO:1900180

regulation of protein localization to nucleus

Any process that modulates the frequency, rate or extent of protein localization to nucleus.

IEA

BP

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway.

IEA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA

CC

GO:0005635

nuclear envelope

The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).

IDA|TAS

CC

GO:0005638

lamin filament

Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C.

IEA

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

IDA|TAS

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IDA

CC

GO:0005829

cytosol

The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

TAS

CC

GO:0016607

nuclear speck

A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.

IEA

CC

GO:0031012

extracellular matrix

A structure lying external to one or more cells, which provides structural support for cells or tissues.

IDA

CC

GO:0031965

nuclear membrane

Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.

IDA

MF

GO:0005198

structural molecule activity

The action of a molecule that contributes to the structural integrity of a complex or assembly within or outside a cell.

IEA

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

Domain ID Description

IPR001322

Lamin Tail Domain

IPR001664

Intermediate filament protein

IPR018039

Intermediate filament protein, conserved site

Pathway ID Pathway Term Pathway Source

hsa04210

Apoptosis

KEGG

hsa05410

Hypertrophic cardiomyopathy (HCM)

KEGG

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

KEGG

hsa05414

Dilated cardiomyopathy

KEGG

WP2118

Arrhythmogenic Right Ventricular Cardiomyopathy

WikiPathways

WP236

Adipogenesis

WikiPathways

WP314

Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation

WikiPathways

h_caspasePathway

Caspase Cascade in Apoptosis

BioCarta

h_fasPathway

FAS signaling pathway ( CD95 )

BioCarta

h_HivnefPathway

HIV-I Nef: negative effector of Fas and TNF

BioCarta

h_deathPathway

Induction of apoptosis through DR3 and DR4/5 Death Receptors

BioCarta

h_tnfr1Pathway

TNFR1 Signaling Pathway

BioCarta

UMLS CUI UMLS Term

C0007193

Cardiomyopathy, Dilated

C0007959

Charcot-Marie-Tooth Disease

C0016508

Congenital Foot Deformity

C0018566

Congenital Hand Deformities

C0018794

Heart Block

C0033300

Progeria

C0036420

Localized Scleroderma

C0037188

Sinoatrial Block

C0042514

Tachycardia, Ventricular

C0043119

Werner Syndrome

C0085298

Sudden Cardiac Death

C0271694

Familial Partial Lipodystrophy

C0349788

Arrhythmogenic Right Ventricular Dysplasia

C0376634

Craniofacial Abnormalities

C0410189

Muscular Dystrophy, Emery-Dreifuss

C0410190

Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (Disorder)

C0686353

Muscular Dystrophies, Limb-Girdle

C0878544

Cardiomyopathies

C1136321

HIV-Associated Lipodystrophy Syndrome

C1449563

Cardiomyopathy, Familial Idiopathic

C1450051

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

C1720859

Familial Partial Lipodystrophy, Type 1

C1720860

Familial Partial Lipodystrophy, Type 2

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

bone marrow

hematopoietic cells

breast

adipocytes

breast

glandular cells

breast

myoepithelial cells

bronchus

respiratory epithelial cells

caudate

glial cells

cerebellum

cells in granular layer

cerebellum

cells in molecular layer

cerebellum

Purkinje cells

cerebral cortex

endothelial cells

cerebral cortex

glial cells

cerebral cortex

neuronal cells

cervix, uterine

glandular cells

cervix, uterine

squamous epithelial cells

colon

endothelial cells

colon

glandular cells

colon

peripheral nerve/ganglion

duodenum

glandular cells

endometrium

cells in endometrial stroma

endometrium

glandular cells

epididymis

glandular cells

esophagus

squamous epithelial cells

fallopian tube

glandular cells

gallbladder

glandular cells

heart muscle

myocytes

hippocampus

glial cells

hippocampus

neuronal cells

kidney

cells in glomeruli

kidney

cells in tubules

liver

bile duct cells

liver

hepatocytes

lung

macrophages

lung

pneumocytes

lymph node

non-germinal center cells

nasopharynx

respiratory epithelial cells

oral mucosa

squamous epithelial cells

ovary

ovarian stroma cells

pancreas

exocrine glandular cells

pancreas

islets of Langerhans

parathyroid gland

glandular cells

placenta

decidual cells

placenta

trophoblastic cells

prostate

glandular cells

rectum

glandular cells

salivary gland

glandular cells

seminal vesicle

glandular cells

skeletal muscle

myocytes

skin

keratinocytes

skin

epidermal cells

small intestine

glandular cells

smooth muscle

smooth muscle cells

soft tissue

adipocytes

soft tissue

fibroblasts

stomach

glandular cells

testis

cells in seminiferous ducts

testis

Leydig cells

thyroid gland

glandular cells

tonsil

germinal center cells

tonsil

non-germinal center cells

tonsil

squamous epithelial cells

urinary bladder

urothelial cells

vagina

squamous epithelial cells

Database Name

PhenomicDB

DisGeNET

DGA

Pubmed ID Author Year Title

17557764

Ma et al.

2007

Proteomic analysis of human ovaries from normal and polycystic ovarian syndrome

21411543

Savaris et al.

2011

Progesterone Resistance in PCOS Endometrium: A Microarray Analysis in Clomiphene Citrate-Treated and Artificial Menstrual Cycles

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

Gene Symbol Entrez ID Uniprot ID Score

PARP1

142

P09874

0.49

ALDH3A2

224

P51648

0.49

CRK

1398

P46108

0.49

CRKL

1399

P46109

0.49

ACE

1636

P12821

0.49

DDX3X

1654

O00571

0.49

EIF5

1983

P55010

0.49

CTTN

2017

Q14247

0.49

FASN

2194

P49327

0.49

FHL1

2273

Q13642

0.49

XRCC6

2547

P12956

0.49

GTF2A1

2957

P52655

0.49

GTF2F2

2963

P13984

0.49

HCFC1

3054

P51610

0.49

HNRNPA2B1

3181

P22626

0.49

LBR

3930

Q14739

0.49

MKI67

4288

P46013

0.49

MRE11A

4361

P49959

0.49

NUMA1

4926

Q14980

0.49

ORC2

4999

Q13416

0.49

PCMT1

5110

P22061

0.49

CDK16

5127

Q00536

0.49

PML

5371

P29590

0.49

PMS2

5395

P54278

0.49

PPM1G

5496

O15355

0.49

RANBP2

5903

P49792

0.49

RANGAP1

5905

P46060

0.49

RPA1

6117

P27694

0.49

SDCBP

6386

O00560

0.49

STX5

6811

Q13190

0.49

SUPT5H

6829

O00267

0.49

TOP2A

7153

P11388

0.49

TPR

7175

P12270

0.49

VRK2

7444

Q86Y07

0.49

SF1

7536

Q15637

0.49

RNF113A

7737

O15541

0.49

NELFE

7936

P18615

0.49

NUP214

8021

P35658

0.49

DGCR14

8220

Q96DF8

0.49

RBM10

8241

P98175

0.49

HIST1H4G

8369

Q99525

0.49

TAGLN2

8407

P37802

0.49

SMARCA5

8467

O60264

0.49

RUVBL1

8607

Q9Y265

0.49

BAZ1B

9031

Q9UIG0

0.49

UBE2M

9040

P61081

0.49

PDCD5

9141

O14737

0.49

H2AFY

9555

O75367

0.49

MDC1

9656

Q14676

0.49

TOX4

9878

O94842

0.49

DDX46

9879

Q7L014

0.49

USP15

9958

Q9Y4E8

0.49

THRAP3

9967

Q9Y2W1

0.49

ZBTB33

10009

Q86T24

0.49

TRIM28

10155

Q13263

0.49

HNRNPR

10236

O43390

0.49

SCML2

10389

Q9UQR0

0.49

YKT6

10652

O15498

0.49

PAPOLA

10914

P51003

0.49

HNRNPA0

10949

Q13151

0.49

CPSF6

11052

Q16630

0.49

DDX42

11325

Q86XP3

0.49

PDAP1

11333

Q13442

0.49

TPX2

22974

Q9ULW0

0.49

U2SURP

23350

O15042

0.49

CD2AP

23607

Q9Y5K6

0.49

TFIP11

24144

Q9UBB9

0.49

FAM169A

26049

Q9Y6X4

0.49

SENP6

26054

Q9GZR1

0.49

GPKOW

27238

Q92917

0.49

PDLIM3

27295

Q53GG5

0.49

TMEM230

29058

Q96A57

0.49

SAP30BP

29115

Q9UHR5

0.49

GNL2

29889

Q13823

0.49

HP1BP3

50809

Q5SSJ5

0.49

C9orf78

51759

Q9NZ63

0.49

ANLN

54443

Q9NQW6

0.49

CDKAL1

54901

Q5VV42

0.49

GPATCH1

55094

Q9BRR8

0.49

WDR70

55100

Q9NW82

0.49

RIF1

55183

Q5UIP0

0.49

LRRC59

55379

Q96AG4

0.49

ZNF280C

55609

Q8ND82

0.49

NPLOC4

55666

Q8TAT6

0.49

CCDC47

57003

Q96A33

0.49

PCNP

57092

Q8WW12

0.49

WDR18

57418

Q9BV38

0.49

CHD8

57680

Q9HCK8

0.49

SUGP1

57794

Q8IWZ8

0.49

SRPRB

58477

Q9Y5M8

0.49

CXorf56

63932

Q9H5V9

0.49

DNAJC1

64215

Q96KC8

0.49

FAM192A

80011

Q9GZU8

0.49

BRIP1

83990

Q9BX63

0.49

MASTL

84930

Q96GX5

0.49

HN1L

90861

Q9H910

0.49

MTDH

92140

Q86UE4

0.49

TIPRL

261726

O75663

0.49

ARPIN

348110

Q7Z6K5

0.49

CISD2

493856

Q8N5K1

0.49

ACTB

60

P60709

0.52

SMAD3

4088

P84022

0.59

NONO

4841

Q15233

0.59

NUP98

4928

P52948

0.59

MCM3AP

8888

O60318

0.59

NUP155

9631

O75694

0.59

POM121

9883

Q96HA1

0.59

PGRMC2

10424

O15173

0.59

NUP50

10762

Q9UKX7

0.59

SF3B3

23450

Q15393

0.59

LEMD3

23592

Q9Y2U8

0.59

AHCTF1

25909

Q8WYP5

0.59

SENP1

29843

Q9P0U3

0.59

WWOX

51741

Q9NZC7

0.59

NUP133

55746

Q8WUM0

0.59

TMEM201

199953

Q5SNT2

0.59

BDKRB2

624

P30411

0.63

CTNNB1

1499

P35222

0.63

PRKDC

5591

P78527

0.63

PYGM

5837

P11217

0.63

STAC

6769

Q99469

0.63

VAV1

7409

P15498

0.63

ROCK2

9475

O75116

0.63

KIAA0196

9897

Q12768

0.63

NUP153

9972

P49790

0.63

PASK

23178

Q96RG2

0.63

KPNA6

23633

O60684

0.63

DBNL

28988

Q9UJU6

0.63

SH3KBP1

30011

Q96B97

0.63

DUSP13

51207

Q9UII6

0.63

MRPS26

64949

Q9BYN8

0.63

KCTD12

115207

Q96CX2

0.63

UNC13D

201294

Q70J99

0.63

KRTAP10-7

386675

P60409

0.63

KRTAP10-3

386682

P60369

0.63

RBBP4

5928

Q09028

0.68

FLNA

2316

P21333

0.73

FUS

2521

P35637

0.73

HNRNPA1

3178

P09651

0.73

NCL

4691

P19338

0.73

LMNB2

84823

Q03252

0.73

EGF

1950

P01133

0.74

PCGF2

7703

P35227

0.74

LMNA

4000

P02545

0.84

PCBP1

5093

Q15365

0.85

UBE2I

7329

P63279

0.85

BRCA1

672

P38398

0.06

BRCA2

675

P51587

0.06

PALB2

79728

Q86YC2

0.06

E2F3

1871

O00716

0.07

SLC25A5

292

P05141

0.49

SLC25A6

293

P12236

0.49

HNRNPM

4670

P52272

0.49

DYNLT1

6993

P63172

0.49

HIST1H3A

8350

P68431

0.49

CC2D2A

57545

Q9P2K1

0.49

CLK1

1195

P49759

0.52

GZMA

3001

P12544

0.52

GZMB

3002

P10144

0.52

SRPK2

6733

P78362

0.52

HSF1

3297

Q00613

0.55

SNAI1

6615

O95863

0.55

AIMP2

7965

Q13155

0.55

LATS2

26524

Q9NRM7

0.55

GRB2

2885

P62993

0.56

UCHL5

51377

Q9Y5K5

0.56

BNIP3L

665

O60238

0.63

CDC5L

988

Q99459

0.63

CDK2

1017

P24941

0.63

CFTR

1080

P13569

0.63

EEF1D

1936

P29692

0.63

EGFR

1956

P00533

0.63

ENO1

2023

P06733

0.63

ESR1

2099

P03372

0.63

FN1

2335

P02751

0.63

ING1

3621

Q9UK53

0.63

ITGA4

3676

P13612

0.63

JUN

3725

P05412

0.63

MCM2

4171

P49736

0.63

MCM5

4174

P33992

0.63

MCM7

4176

P33993

0.63

MDM2

4193

Q00987

0.63

MOV10

4343

Q9HCE1

0.63

NTRK1

4914

P04629

0.63

OPA1

4976

O60313

0.63

PARK2

5071

O60260

0.63

PHB

5245

P35232

0.63

PPP1CC

5501

P36873

0.63

PSMD10

5716

O75832

0.63

ABCE1

6059

P61221

0.63

SHMT2

6472

P34897

0.63

SUMO3

6612

P55854

0.63

STK4

6789

Q13043

0.63

SVIL

6840

O95425

0.63

TMPO

7112

P42167

0.63

TP53

7157

P04637

0.63

VCP

7415

P55072

0.63

WHSC1

7468

O96028

0.63

YY1

7528

P25490

0.63

USP7

7874

Q93009

0.63

RFXANK

8625

O14593

0.63

EED

8726

O75530

0.63

BANF1

8815

O75531

0.63

HERC2

8924

O95714

0.63

ZW10

9183

O43264

0.63

ISG15

9636

P05161

0.63

MORF4L2

9643

Q15014

0.63

RAPGEF2

9693

Q9Y4G8

0.63

KIAA0101

9768

Q15004

0.63

CUL7

9820

Q14999

0.63

SRRM1

10250

Q8IYB3

0.63

NXF1

10482

Q9UBU9

0.63

CTCF

10664

P49711

0.63

MORF4L1

10933

Q9UBU8

0.63

SNW1

22938

Q13573

0.63

SMG1

23049

Q96Q15

0.63

OBSL1

23363

O75147

0.63

SRRM2

23524

Q9UQ35

0.63

GABARAPL1

23710

Q9H0R8

0.63

FBXO6

26270

Q9NRD1

0.63

GMPPB

29925

Q9Y5P6

0.63

SIRT7

51547

Q9NRC8

0.63

SIRT6

51548

Q8N6T7

0.63

MRGBP

55257

Q9NV56

0.63

ANKRA2

57763

Q9H9E1

0.63

CCDC8

83987

Q9H0W5

0.63

LRRK2

120892

Q5S007

0.63

BAP18

124944

Q8IXM2

0.63

MED19

219541

A0JLT2

0.63

SCARNA22

677770

N/A

0.63

CASP1

834

P29466

0.65

CASP6

839

P55212

0.65

KAT5

10524

Q92993

0.65

PPME1

51400

Q9Y570

0.65

LEMD2

221496

Q8NC56

0.65

SUMO4

387082

Q6EEV6

0.65

SUN2

25777

Q9UH99

0.66

ALOX12B

242

O75342

0.67

FOS

2353

P01100

0.67

MLIP

90523

Q5VWP3

0.68

URB2

9816

Q14146

0.70

ILK

3611

Q13418

0.72

IRAK1

3654

P51617

0.72

LIMK2

3985

P53671

0.72

MME

4311

P08473

0.72

MAST3

23031

O60307

0.72

FYCO1

79443

Q9BQS8

0.72

GFM1

85476

Q96RP9

0.72

HIST2H3A; HIST2H3C; HIST2H3D

126961

Q71DI3

0.72

SUMO2

6613

P61956

0.74

TOR1A

1861

O14656

0.75

CDH1

999

P12830

0.76

ALOX12

239

P18054

0.78

PRKCA

5578

P17252

0.78

SUMO1

7341

P63165

0.78

ZNF239

8187

Q16600

0.78

YWHAQ

10971

P27348

0.78

H2AFX

3014

P16104

0.82

MYC

4609

P01106

0.82

VCAM1

7412

P19320

0.82

LMNB1

4001

P20700

0.84

YWHAZ

7534

P63104

0.84

RB1

5925

P06400

0.86

TOR1AIP1

26092

Q5JTV8

0.88

NARF

26502

Q9UHQ1

0.88

TMPO

7112

P42166

0.89

SYNE1

23345

Q8NF91

0.89

EMD

2010

P50402

0.90

SREBF1

6720

P36956

0.90