Protein Description

Gene Symbol HMGB1
Entrez ID 3146
Uniprot ID P09429
Description high mobility group box 1
Chromosomal Location chr13: 30,456,704-30,617,597
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IMP

BP

GO:0001773

myeloid dendritic cell activation

The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor.

ISS

BP

GO:0002218

activation of innate immune response

Any process that initiates an innate immune response. Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. Examples of this process include activation of the hypersensitive response of Arabidopsis thaliana and activation of any NOD or TLR signaling pathway in vertebrate species.

IDA

BP

GO:0002407

dendritic cell chemotaxis

The movement of a dendritic cell in response to an external stimulus.

ISS

BP

GO:0002437

inflammatory response to antigenic stimulus

An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes.

IEP

BP

GO:0002643

regulation of tolerance induction

Any process that modulates the frequency, rate, or extent of tolerance induction.

IDA

BP

GO:0002840

regulation of T cell mediated immune response to tumor cell

Any process that modulates the frequency, rate, or extent of a T cell mediated immune response to tumor cell.

ISS

BP

GO:0006265

DNA topological change

The process in which a transformation is induced in the topological structure of a double-stranded DNA helix, resulting in a change in linking number.

ISS

BP

GO:0006309

apoptotic DNA fragmentation

The cleavage of DNA during apoptosis, which usually occurs in two stages: cleavage into fragments of about 50 kbp followed by cleavage between nucleosomes to yield 200 bp fragments.

TAS

BP

GO:0006310

DNA recombination

Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Intrachromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction.

ISS

BP

GO:0006357

regulation of transcription from RNA polymerase II promoter

Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

BP

GO:0006914

autophagy

The process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation.

IEA

BP

GO:0006954

inflammatory response

The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.

IDA

BP

GO:0007204

positive regulation of cytosolic calcium ion concentration

Any process that increases the concentration of calcium ions in the cytosol.

IDA

BP

GO:0010506

regulation of autophagy

Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.

IMP

BP

GO:0017055

negative regulation of RNA polymerase II transcriptional preinitiation complex assembly

Any process that stops, prevents, or reduces the frequency, rate or extent of RNA polymerase II transcriptional preinitiation complex assembly.

IDA

BP

GO:0031175

neuron projection development

The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).

ISS

BP

GO:0032072

regulation of restriction endodeoxyribonuclease activity

Any process that modulates the frequency, rate or extent of a restriction endodeoxyribonuclease activity, the catalysis of endonucleolytic cleavage of DNA in a site-specific manner, resulting in double-strand breaks.

IDA

BP

GO:0032392

DNA geometric change

The process in which a transformation is induced in the geometry of a DNA double helix, resulting in a change in twist, writhe, or both, but with no change in linking number. Includes the unwinding of double-stranded DNA by helicases.

ISS

BP

GO:0032425

positive regulation of mismatch repair

Any process that activates or increases the frequency, rate or extent of mismatch repair.

IDA

BP

GO:0032689

negative regulation of interferon-gamma production

Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.

IDA

BP

GO:0032733

positive regulation of interleukin-10 production

Any process that activates or increases the frequency, rate, or extent of interleukin-10 production.

IDA

BP

GO:0032735

positive regulation of interleukin-12 production

Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.

IMP

BP

GO:0033151

V(D)J recombination

The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS).

IDA

BP

GO:0034165

positive regulation of toll-like receptor 9 signaling pathway

Any process that activates or increases the frequency, rate, or extent of toll-like receptor 9 signaling pathway.

ISS

BP

GO:0035711

T-helper 1 cell activation

The change in morphology and behavior of a T-helper 1 cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.

IDA

BP

GO:0042104

positive regulation of activated T cell proliferation

Any process that activates or increases the rate or extent of activated T cell proliferation.

IMP

BP

GO:0043065

positive regulation of apoptotic process

Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.

IDA

BP

GO:0043277

apoptotic cell clearance

The recognition and removal of an apoptotic cell by a neighboring cell or by a phagocyte.

IDA

BP

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.

IDA

BP

GO:0043371

negative regulation of CD4-positive, alpha-beta T cell differentiation

Any process that stops, prevents, or reduces the frequency, rate, or extent of CD4-positive, alpha-beta T cell differentiation.

IDA

BP

GO:0043388

positive regulation of DNA binding

Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).

IDA

BP

GO:0043410

positive regulation of MAPK cascade

Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.

IDA

BP

GO:0043537

negative regulation of blood vessel endothelial cell migration

Any process that stops, prevents, or reduces the frequency, rate or extent of the migration of the endothelial cells of blood vessels.

IDA

BP

GO:0045063

T-helper 1 cell differentiation

The process in which a relatively unspecialized T cell acquires the specialized features of a T-helper 1 (Th1) cell. A Th1 cell is a CD4-positive, alpha-beta T cell that has the phenotype T-bet-positive and produces interferon-gamma.

IMP

BP

GO:0045087

innate immune response

Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.

TAS

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

BP

GO:0046330

positive regulation of JNK cascade

Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.

IDA

BP

GO:0050716

positive regulation of interleukin-1 secretion

Any process that activates or increases the frequency, rate or extent of the regulated release of interleukin-1 from a cell.

IDA

BP

GO:0050918

positive chemotaxis

The directed movement of a motile cell or organism towards a higher concentration of a chemical.

IEA

BP

GO:0051103

DNA ligation involved in DNA repair

The re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase, that contributes to DNA repair.

ISS

BP

GO:0051106

positive regulation of DNA ligation

Any process that activates or increases the frequency, rate or extent of DNA ligation, the re-formation of a broken phosphodiester bond in the DNA backbone, carried out by DNA ligase.

ISS

BP

GO:0070374

positive regulation of ERK1 and ERK2 cascade

Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.

IDA

BP

GO:0090026

positive regulation of monocyte chemotaxis

Any process that increases the frequency, rate, or extent of monocyte chemotaxis.

IDA

BP

GO:0097350

neutrophil clearance

The selective elimination of senescent neutrophils from the body by autoregulatory mechanisms.

IDA

BP

GO:1990774

tumor necrosis factor secretion

The regulated release of tumor necrosis factor from a cell. Tumor necrosis factor is an inflammatory cytokine produced by macrophages/monocytes during acute inflammation and which is responsible for a diverse range of signaling events within cells, leading to necrosis or apoptosis.

IDA

BP

GO:2000778

positive regulation of interleukin-6 secretion

Any process that activates or increases the frequency, rate or extent of interleukin-6 secretion.

IDA

BP

GO:2001200

positive regulation of dendritic cell differentiation

Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation.

IMP

CC

GO:0000793

condensed chromosome

A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure.

IDA

CC

GO:0005576

extracellular region

The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.

TAS

CC

GO:0005615

extracellular space

That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

IDA

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:0005654

nucleoplasm

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

TAS

CC

GO:0005768

endosome

A vacuole to which materials ingested by endocytosis are delivered.

IEA

CC

GO:0005793

endoplasmic reticulum-Golgi intermediate compartment

A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.

IEA

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IEA

CC

GO:0009986

cell surface

The external part of the cell wall and/or plasma membrane.

IDA

CC

GO:0017053

transcriptional repressor complex

A protein complex that possesses activity that prevents or downregulates transcription.

IDA

MF

GO:0000400

four-way junction DNA binding

Interacting selectively and non-covalently with DNA containing four-way junctions, also known as Holliday junctions, a structure where two DNA double strands are held together by reciprocal exchange of two of the four strands, one strand each from the two original helices.

ISS

MF

GO:0000405

bubble DNA binding

Interacting selectively and non-covalently with DNA that contains a bubble. A bubble occurs when DNA contains a region of unpaired, single-stranded DNA flanked on both sides by regions of paired, double-stranded DNA.

ISS

MF

GO:0001530

lipopolysaccharide binding

Interacting selectively and non-covalently with lipopolysaccharide.

IDA

MF

GO:0001786

phosphatidylserine binding

Interacting selectively and non-covalently with phosphatidylserine, a class of glycophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of L-serine.

IDA

MF

GO:0003684

damaged DNA binding

Interacting selectively and non-covalently with damaged DNA.

IDA|ISS

MF

GO:0003690

double-stranded DNA binding

Interacting selectively and non-covalently with double-stranded DNA.

ISS

MF

GO:0003697

single-stranded DNA binding

Interacting selectively and non-covalently with single-stranded DNA.

ISS

MF

GO:0003700

transcription factor activity, sequence-specific DNA binding

Interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.

IDA

MF

GO:0005125

cytokine activity

Functions to control the survival, growth, differentiation and effector function of tissues and cells.

ISS

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

MF

GO:0008134

transcription factor binding

Interacting selectively and non-covalently with a transcription factor, any protein required to initiate or regulate transcription.

IPI

MF

GO:0008301

DNA binding, bending

The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence.

IMP|ISS

MF

GO:0016829

lyase activity

Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring.

IDA

MF

GO:0019958

C-X-C chemokine binding

Interacting selectively and non-covalently with a C-X-C chemokine; C-X-C chemokines have a single amino acid between the first two cysteines of the characteristic four cysteine motif.

IDA

MF

GO:0042056

chemoattractant activity

Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a higher concentration of that signal.

ISS

MF

GO:0044822

poly(A) RNA binding

Interacting non-covalently with a poly(A) RNA, a RNA molecule which has a tail of adenine bases.

IDA

MF

GO:0050786

RAGE receptor binding

Interacting selectively and non-covalently with the RAGE receptor, the receptor for advanced glycation end-products.

ISS

MF

GO:0070182

DNA polymerase binding

Interacting selectively and non-covalently with a DNA polymerase.

IDA

MF

GO:0070491

repressing transcription factor binding

Interacting selectively and non-covalently with a transcription repressor, any protein whose activity is required to prevent or downregulate transcription.

IPI

MF

GO:0097100

supercoiled DNA binding

Interacting selectively and non-covalently with supercoiled DNA. For example, during replication and transcription, template DNA is negatively supercoiled in the receding downstream DNA and positively supercoiled in the approaching downstream DNA.

ISS

Domain ID Description

IPR009071

High mobility group box domain

IPR017967

HMG box A DNA-binding domain, conserved site

Pathway ID Pathway Term Pathway Source

hsa03410

Base excision repair

KEGG

hsa04140

Autophagy - animal

KEGG

WP710

DNA Damage Response (only ATM dependent)

WikiPathways

WP2446

Retinoblastoma (RB) in Cancer

WikiPathways

h_DNAfragmentPathway

Apoptotic DNA fragmentation and tissue homeostasis

BioCarta

h_pcafpathway

The information-processing pathway at the IFN-beta enhancer

BioCarta

UMLS CUI UMLS Term

C0021368

Inflammation

C0027540

Necrosis

C0151744

Myocardial Ischemia

C0243026

Sepsis

C0264939

Systemic Vasculitis

C0860207

Drug-Induced Liver Injury

Tissue Cell Type

appendix

glandular cells

appendix

lymphoid tissue

bone marrow

hematopoietic cells

breast

glandular cells

breast

myoepithelial cells

bronchus

respiratory epithelial cells

caudate

glial cells

cerebellum

cells in granular layer

cerebral cortex

glial cells

cervix, uterine

glandular cells

cervix, uterine

squamous epithelial cells

colon

endothelial cells

colon

glandular cells

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

kidney

cells in glomeruli

kidney

cells in tubules

liver

bile duct cells

liver

hepatocytes

lung

macrophages

lung

pneumocytes

lymph node

germinal center cells

lymph node

non-germinal center cells

nasopharynx

respiratory epithelial cells

oral mucosa

squamous epithelial cells

ovary

ovarian stroma cells

pancreas

exocrine glandular cells

placenta

decidual cells

placenta

trophoblastic cells

prostate

glandular cells

rectum

glandular cells

salivary gland

glandular cells

skeletal muscle

myocytes

skin

fibroblasts

skin

keratinocytes

skin

melanocytes

skin

epidermal cells

small intestine

glandular cells

smooth muscle

smooth muscle cells

soft tissue

fibroblasts

soft tissue

peripheral nerve

spleen

cells in red pulp

spleen

cells in white pulp

stomach

glandular cells

testis

cells in seminiferous ducts

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

GWASdb

DisGeNET

Pubmed ID Author Year Title

15291743

Diao et al.

2004

The molecular characteristics of polycystic ovary syndrome (PCOS) ovary defined by human ovary cDNA microarray

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

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

25393639

Ambekar et al.

2014

Proteomics of follicular fluid from women with polycystic ovary syndrome suggests molecular defects in follicular development

Gene Symbol Entrez ID Uniprot ID Score

SMARCE1

6605

Q969G3

0.49

KPNA6

23633

O60684

0.49

CUX1

1523

Q13948

0.52

DNMT1

1786

P26358

0.52

HES1

3280

Q14469

0.52

RBPJ

3516

Q06330

0.52

IRF2

3660

P14316

0.52

RAD23B

5887

P54727

0.56

SSRP1

6749

Q08945

0.59

TLR4

7099

O00206

0.62

APEX1

328

P27695

0.63

PDIA3

2923

P30101

0.63

HSPA8

3312

P11142

0.63

MLH1

4292

P40692

0.63

MSH2

4436

P43246

0.63

UNC119

9094

Q13432

0.63

C14orf1

11161

Q9UKR5

0.63

RIF1

55183

Q5UIP0

0.63

LRIF1

55791

Q5T3J3

0.63

AGTRAP

57085

Q6RW13

0.63

XPC

7508

Q01831

0.68

HMGB2

3148

P26583

0.73

HOXB1

3211

P14653

0.75

HOXB3

3213

P14651

0.75

HOXC6

3223

P09630

0.75

HOXD3

3232

P31249

0.75

HOXD8

3234

P13378

0.75

HOXD10

3236

P28358

0.75

HOXD11

3237

P31277

0.75

PTPRZ1

5803

P23471

0.75

HOXD9

3235

P28356

0.76

ETS1

2113

P14921

0.49

EWSR1

2130

Q01844

0.49

SMARCA2

6595

P51531

0.49

SMARCA4

6597

P51532

0.49

SMARCD1

6602

Q96GM5

0.49

SMARCD3

6604

Q6STE5

0.49

SUPT16H

11198

Q9Y5B9

0.49

MAP1LC3B

81631

Q9GZQ8

0.49

ATOH1

474

Q92858

0.52

CASP3

836

P42574

0.52

CEBPB

1051

P17676

0.52

CREBBP

1387

Q92793

0.52

ERF

2077

P50548

0.52

FOXC1

2296

Q12948

0.52

FOXA3

3171

P55318

0.52

MNT

4335

Q99583

0.52

PPP2R3A

5523

Q06190

0.52

PRKCA

5578

P17252

0.52

PRKDC

5591

P78527

0.52

RFX1

5989

P22670

0.52

TFE3

7030

P19532

0.52

TGIF1

7050

Q15583

0.52

TLE2

7089

Q04725

0.52

ZFP36

7538

P26651

0.52

CTCF

10664

P49711

0.52

SOX18

54345

P35713

0.52

HR

55806

O43593

0.52

NEUROD6

63974

Q96NK8

0.52

RASSF4

83937

Q9H2L5

0.52

SIX5

147912

Q8N196

0.52

TLR2

7097

O60603

0.55

ZNF24

7572

P17028

0.56

CDK1

983

P06493

0.59

CDK2

1017

P24941

0.63

CRMP1

1400

Q14194

0.63

DNM2

1785

P50570

0.63

FCP1

2221

N/A

0.63

H3F3A; H3F3B

3020

P84243

0.63

ITGA4

3676

P13612

0.63

NTRK1

4914

P04629

0.63

POLB

5423

P06746

0.63

PSEN1

5663

P49768

0.63

SUMO2

6613

P61956

0.63

TAF1

6872

P21675

0.63

HNF1A

6927

P20823

0.63

TFAP4

7023

Q01664

0.63

VCAM1

7412

P19320

0.63

XPA

7507

P23025

0.63

BECN1

8678

Q14457

0.63

CTDP1

9150

Q9Y5B0

0.63

PTBP3

9991

O95758

0.63

HUWE1

10075

Q7Z6Z7

0.63

ASB1

51665

Q9Y576

0.63

ASB2

51676

Q96Q27

0.63

WDR76

79968

Q9H967

0.63

HTT

3064

P42858

0.65

PLAT

5327

P00750

0.69

CSNK1A1

1452

P48729

0.71

FN1

2335

P02751

0.72

HMGA1

3159

P17096

0.72

MAPK1

5594

P28482

0.72

TXN

7295

P10599

0.72

LY96

23643

Q9Y6Y9

0.72

TERF2

7014

Q15554

0.73

TERF2IP

54386

Q9NYB0

0.73

NCAN

1463

O14594

0.75

GTF2A1

2957

P52655

0.75

MECP2

4204

P51608

0.75

NFKB1

4790

P19838

0.75

PGR

5241

P06401

0.75

PLG

5340

P00747

0.75

TP73

7161

O15350

0.75

RAG1

5896

P15918

0.76

NR3C1

2908

P04150

0.81

POU5F1

5460

Q01860

0.84

RELA

5970

Q04206

0.84

RB1

5925

P06400

0.85

HNRNPK

3190

P61978

0.86

TBP

6908

P20226

0.86

AR

367

P10275

0.87

AGER

177

Q15109

0.89

AES

166

Q08117

0.92

TLE1

7088

Q04724

0.92

TP53

7157

P04637

0.97