Protein Description

Gene Symbol EPAS1
Entrez ID 2034
Uniprot ID Q99814
Description endothelial PAS domain protein 1
Chromosomal Location chr2: 46,293,667-46,386,703
Ontology GO ID GO Term Definition Evidence

BP

GO:0001525

angiogenesis

Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.

IEA

BP

GO:0001666

response to hypoxia

Any process that results in a change in state or activity of a cell or an organism (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.

IDA

BP

GO:0001892

embryonic placenta development

The embryonically driven process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.

IEA

BP

GO:0001974

blood vessel remodeling

The reorganization or renovation of existing blood vessels.

IEA

BP

GO:0002027

regulation of heart rate

Any process that modulates the frequency or rate of heart contraction.

IEA

BP

GO:0006366

transcription from RNA polymerase II promoter

The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

TAS

BP

GO:0007005

mitochondrion organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components.

IEA

BP

GO:0007165

signal transduction

The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

TAS

BP

GO:0007601

visual perception

The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

IEA

BP

GO:0030218

erythrocyte differentiation

The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.

IEA

BP

GO:0030324

lung development

The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.

IEA

BP

GO:0035019

somatic stem cell population maintenance

Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.

TAS

BP

GO:0042415

norepinephrine metabolic process

The chemical reactions and pathways involving norepinephrine, a hormone secreted by the adrenal medulla, and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts in the central nervous system. It is also the demethylated biosynthetic precursor of epinephrine.

IEA

BP

GO:0043129

surfactant homeostasis

Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli.

IEA

BP

GO:0043619

regulation of transcription from RNA polymerase II promoter in response to oxidative stress

Modulation of the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.

IEA

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|IGI

BP

GO:0048469

cell maturation

A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state.

IEA

BP

GO:0048625

myoblast fate commitment

The process in which the developmental fate of a cell becomes restricted such that it will develop into a myoblast. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.

ISS

BP

GO:0055072

iron ion homeostasis

Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell.

IEA

BP

GO:0061418

regulation of transcription from RNA polymerase II promoter in response to hypoxia

Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a hypoxia stimulus.

TAS

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.

IDA

CC

GO:0005654

nucleoplasm

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

TAS

CC

GO:0005667

transcription factor complex

A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

IDA|IPI

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

MF

GO:0000981

RNA polymerase II transcription factor activity, sequence-specific DNA binding

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

IBA

MF

GO:0001077

transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II (RNAP II) in order to activate or increase the frequency, rate or extent of transcription from the RNAP II promoter.

IEA

MF

GO:0003677

DNA binding

Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).

IGI

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:0035035

histone acetyltransferase binding

Interacting selectively and non-covalently with the enzyme histone acetyltransferase.

IPI

MF

GO:0043565

sequence-specific DNA binding

Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

IDA

MF

GO:0046982

protein heterodimerization activity

Interacting selectively and non-covalently with a nonidentical protein to form a heterodimer.

IPI

Domain ID Description

IPR000014

PAS domain

IPR001067

Nuclear translocator

IPR001610

PAC motif

IPR011598

Myc-type, basic helix-loop-helix (bHLH) domain

IPR013767

PAS fold

IPR014887

HIF-1 alpha, transactivation domain, C-terminal

IPR021537

Hypoxia-inducible factor, alpha subunit

Pathway ID Pathway Term Pathway Source

hsa05200

Pathways in cancer

KEGG

hsa05211

Renal cell carcinoma

KEGG

WP3678

Amplification and Expansion of Oncogenic Pathways as Metastatic Traits

WikiPathways

WP236

Adipogenesis

WikiPathways

WP3932

Focal Adhesion-PI3K-Akt-mTOR-signaling pathway

WikiPathways

UMLS CUI UMLS Term

C0007134

Renal Cell Carcinoma

C0007621

Neoplastic Cell Transformation

C0008625

Chromosome Aberrations

No tissues found.

No databases found.

Pubmed ID Author Year Title

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

Gene Symbol Entrez ID Uniprot ID Score

BBS2

583

Q9BXC9

0.63

CREBBP

1387

Q92793

0.63

CTNNB1

1499

P35222

0.63

EMD

2010

P50402

0.63

FLNB

2317

O75369

0.63

HIF1A

3091

Q16665

0.63

HSPA4

3308

P34932

0.63

HSPA9

3313

P38646

0.63

LAMP1

3916

P11279

0.63

MITF

4286

O75030

0.63

PHB

5245

P35232

0.63

MED1

5469

Q15648

0.63

PSMB1

5689

P20618

0.63

PSMD1

5707

Q99460

0.63

DPF2

5977

Q92785

0.63

SMARCA2

6595

P51531

0.63

SMARCA4

6597

P51532

0.63

SMARCB1

6598

Q12824

0.63

SMARCC1

6599

Q92922

0.63

SMARCC2

6601

Q8TAQ2

0.63

SOX10

6663

P56693

0.63

STAT5A

6776

P42229

0.63

MED22

6837

Q15528

0.63

TCEB2

6923

Q15370

0.63

TFAP2A

7020

P05549

0.63

TPR

7175

P12270

0.63

XPO1

7514

O14980

0.63

IKBKAP

8518

O95163

0.63

SQSTM1

8878

Q13501

0.63

BCL7C

9274

Q8WUZ0

0.63

MED14

9282

O60244

0.63

GTF3C3

9330

Q9Y5Q9

0.63

MED23

9439

Q9ULK4

0.63

MED17

9440

Q9NVC6

0.63

MED26

9441

O95402

0.63

MED27

9442

Q6P2C8

0.63

MED7

9443

O43513

0.63

MED20

9477

Q9H944

0.63

BAG2

9532

O95816

0.63

MED24

9862

O75448

0.63

MED12

9968

Q93074

0.63

MED16

10025

Q9Y2X0

0.63

DCAF7

10238

P61962

0.63

STUB1

10273

Q9UNE7

0.63

NET1

10276

Q7Z628

0.63

DNAJA2

10294

O60884

0.63

PHB2

11331

Q99623

0.63

CNOT1

23019

A5YKK6

0.63

KDM1A

23028

O60341

0.63

NCAPD3

23310

P42695

0.63

SSBP3

23648

Q9BWW4

0.63

CNOT10

25904

Q9H9A5

0.63

SIN3A

25942

Q96ST3

0.63

AKAP8L

26993

Q9ULX6

0.63

MED4

29079

Q9NPJ6

0.63

CNOT7

29883

Q9UIV1

0.63

YTHDF2

51441

Q9Y5A9

0.63

MED15

51586

Q96RN5

0.63

TRIM33

51592

Q9UPN9

0.63

MED18

54797

Q9BUE0

0.63

MED29

55588

Q9NX70

0.63

WRNIP1

56897

Q96S55

0.63

ARID1B

57492

Q8NFD5

0.63

MED25

81857

Q71SY5

0.63

MED10

84246

Q9BTT4

0.63

DPY30

84661

Q9C005

0.63

MED8

112950

Q96G25

0.63

MED11

400569

Q9P086

0.63

DBP

1628

Q10586

0.65

DDIT3

1649

P35638

0.65

JUN

3725

P05412

0.65

BATF

10538

Q16520

0.65

BATF3

55509

Q9NR55

0.65

BATF2

116071

Q8N1L9

0.65

F12

2161

P00748

0.68

NDN

4692

Q99608

0.68

KLHL20

27252

Q9Y2M5

0.72

MAX

4149

P61244

0.73

EIF3E

3646

P60228

0.77

EGLN2

112398

Q96KS0

0.81

EP300

2033

Q09472

0.82

SUMO1

7341

P63165

0.82

ARNT2

9915

Q9HBZ2

0.82

EPAS1

2034

Q99814

0.83

EGLN3

112399

Q9H6Z9

0.86

ARNT

405

P27540

0.89

EGLN1

54583

Q9GZT9

0.89

ARNTL

406

O00327

0.94

VHL

7428

P40337

0.96

PRKD1

5587

Q15139

0.52

HSP90AA1

3320

P07900

0.56

APC

324

P25054

0.63

BBS1

582

Q8NFJ9

0.63

ELAVL1

1994

Q15717

0.63

ETS1

2113

P14921

0.63

EWSR1

2130

Q01844

0.63

MCM3

4172

P25205

0.63

MCM7

4176

P33993

0.63

MEF2C

4208

Q06413

0.63

NEDD8

4738

Q15843

0.63

NPM1

4869

P06748

0.63

PKM

5315

P14618

0.63

SUMO2

6613

P61956

0.63

SPP1

6696

P10451

0.63

PIAS2

9063

O75928

0.63

MAP1LC3A

84557

Q9H492

0.63

SIRT1

23411

Q96EB6

0.65

ARNTL2

56938

Q8WYA1

0.65

PDK1

5163

Q15118

0.68

USP8

9101

P40818

0.68

BBS4

585

Q96RK4

0.72

PSMC3

5702

P17980

0.72

TERF2IP

54386

Q9NYB0

0.73

SMAD3

4088

P84022

0.76

SP1

6667

P08047

0.82