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 |
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 |