Details for: EPAS1

Gene ID: 2034

Symbol: EPAS1

Ensembl ID: ENSG00000116016

Description: endothelial PAS domain protein 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
    Fold Change: 5.81
    Marker Score: 14,767
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 4.57
    Marker Score: 6,617
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 4.56
    Marker Score: 6,620
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.51
    Marker Score: 39,618
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 4.22
    Marker Score: 4,028
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 4.19
    Marker Score: 3,603
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.58
    Marker Score: 26,676
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 3.09
    Marker Score: 2,536
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 3.09
    Marker Score: 2,063
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 3.06
    Marker Score: 712
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 3.01
    Marker Score: 1,796
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.76
    Marker Score: 1,498
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.7
    Marker Score: 5,383
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.66
    Marker Score: 1,891
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.36
    Marker Score: 2,093
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.26
    Marker Score: 36,335
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 2.19
    Marker Score: 1,964
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.19
    Marker Score: 4,205
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 2.16
    Marker Score: 676
  • Cell Name: glomerular endothelial cell (CL0002188)
    Fold Change: 2.12
    Marker Score: 538
  • Cell Name: lung microvascular endothelial cell (CL2000016)
    Fold Change: 2.08
    Marker Score: 442
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 2.04
    Marker Score: 588
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.04
    Marker Score: 3,446
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.02
    Marker Score: 2,122
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.01
    Marker Score: 1,399
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2
    Marker Score: 1,132
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 1.96
    Marker Score: 1,974
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.91
    Marker Score: 12,479
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.91
    Marker Score: 2,198
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.89
    Marker Score: 612
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.89
    Marker Score: 1,102
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.88
    Marker Score: 1,767
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 1.87
    Marker Score: 774
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.84
    Marker Score: 1,568
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.8
    Marker Score: 7,066
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.79
    Marker Score: 1,917
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.79
    Marker Score: 492
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.76
    Marker Score: 1,894
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1.73
    Marker Score: 420
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.73
    Marker Score: 2,233
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 1.72
    Marker Score: 413
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.71
    Marker Score: 842
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.7
    Marker Score: 57,949
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.7
    Marker Score: 1,536
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.7
    Marker Score: 432
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 1.68
    Marker Score: 368
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.65
    Marker Score: 483
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.61
    Marker Score: 754
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.58
    Marker Score: 1,846
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.58
    Marker Score: 614
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.58
    Marker Score: 447
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.58
    Marker Score: 1,742
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.53
    Marker Score: 1,843
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.52
    Marker Score: 2,861
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 1.52
    Marker Score: 342
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.5
    Marker Score: 3,525
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.48
    Marker Score: 616
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 1.48
    Marker Score: 376
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.45
    Marker Score: 2,143
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.44
    Marker Score: 824
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.43
    Marker Score: 6,152
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.41
    Marker Score: 532
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.41
    Marker Score: 821
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.41
    Marker Score: 4,619
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.39
    Marker Score: 8,917
  • Cell Name: vasa recta ascending limb cell (CL1001131)
    Fold Change: 1.38
    Marker Score: 364
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.37
    Marker Score: 396
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.37
    Marker Score: 723
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.37
    Marker Score: 7,363
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.37
    Marker Score: 6,720
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.36
    Marker Score: 2,190
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.36
    Marker Score: 2,579
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.35
    Marker Score: 7,110
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.35
    Marker Score: 851
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.31
    Marker Score: 2,396
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.29
    Marker Score: 3,180
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.29
    Marker Score: 3,551
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.28
    Marker Score: 17,186
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.27
    Marker Score: 19,848
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.25
    Marker Score: 4,835
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.25
    Marker Score: 311
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.25
    Marker Score: 559
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.24
    Marker Score: 31,867
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.24
    Marker Score: 370
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.24
    Marker Score: 311
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: 1.19
    Marker Score: 278
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.18
    Marker Score: 776
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 1.18
    Marker Score: 540
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.16
    Marker Score: 3,050
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 1.13
    Marker Score: 1,120
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.13
    Marker Score: 1,588
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 1.11
    Marker Score: 1,074
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.1
    Marker Score: 608
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.1
    Marker Score: 658
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.08
    Marker Score: 524
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.07
    Marker Score: 2,179
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.06
    Marker Score: 362
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.06
    Marker Score: 749
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 1.06
    Marker Score: 279
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.05
    Marker Score: 340

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** EPAS1 is characterized by its: 1. **Hypoxia-inducible factor (HIF) domain**: The PAS (peroxisome proliferator-activated receptor) domain of EPAS1 allows it to bind to hypoxia-inducible factors (HIFs), which are transcription factors that regulate gene expression in response to low oxygen levels. 2. **DNA-binding activity**: EPAS1 has a high affinity for specific DNA sequences, allowing it to regulate gene expression by recruiting coactivators and corepressors. 3. **Regulatory role in angiogenesis**: EPAS1 is involved in the regulation of angiogenesis, a critical process in tumor growth and development. 4. **Cellular stress response**: EPAS1 is also involved in regulating cellular responses to oxidative stress and hypoxia, which are common environmental stresses that can lead to cellular damage. **Pathways and Functions** EPAS1 is involved in various cellular pathways, including: 1. **Angiogenesis**: EPAS1 regulates the expression of genes involved in angiogenesis, including vascular endothelial growth factor (VEGF) and endothelin-1 (ET-1). 2. **Autophagy**: EPAS1 is involved in regulating autophagy, a process by which cells recycle damaged or dysfunctional components. 3. **Cellular stress response**: EPAS1 regulates the expression of genes involved in the response to hypoxia and oxidative stress. 4. **Transcriptional regulation**: EPAS1 regulates the expression of genes involved in various cellular processes, including metabolism, cell growth, and differentiation. **Clinical Significance** EPAS1 has been implicated in various diseases, including: 1. **Hypoxia-related disorders**: EPAS1 is involved in the regulation of gene expression in response to hypoxia, which is a common feature in various hypoxia-related disorders, including cancer and cardiovascular disease. 2. **Angiogenesis-related disorders**: EPAS1 is involved in the regulation of angiogenesis, which is a critical process in tumor growth and development. 3. **Respiratory diseases**: EPAS1 is highly expressed in lung endothelial cells and is involved in regulating angiogenesis and cellular stress responses in the lungs. 4. **Cardiovascular disease**: EPAS1 is involved in regulating angiogenesis and cellular stress responses in the cardiovascular system, which may contribute to the development of cardiovascular disease. In conclusion, EPAS1 is a critical transcription factor that plays a pivotal role in regulating cellular responses to hypoxia, angiogenesis, and cellular stress. Its dysregulation may contribute to the development of various diseases, including hypoxia-related disorders, angiogenesis-related disorders, respiratory diseases, and cardiovascular disease. Further research is needed to fully understand the mechanisms by which EPAS1 regulates gene expression and to develop therapeutic strategies that target this transcription factor.

Genular Protein ID: 1880273405

Symbol: EPAS1_HUMAN

Name: Endothelial PAS domain-containing protein 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9000051

Title: Endothelial PAS domain protein 1 (EPAS1), a transcription factor selectively expressed in endothelial cells.

PubMed ID: 9000051

DOI: 10.1101/gad.11.1.72

PubMed ID: 9079689

Title: Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway.

PubMed ID: 9079689

DOI: 10.1074/jbc.272.13.8581

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10202154

Title: Molecular mechanisms of transcription activation by HLF and HIF1alpha in response to hypoxia: their stabilization and redox signal-induced interaction with CBP/p300.

PubMed ID: 10202154

DOI: 10.1093/emboj/18.7.1905

PubMed ID: 19208626

Title: Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.

PubMed ID: 19208626

DOI: 10.1074/jbc.m808737200

PubMed ID: 16181639

Title: Structural basis of ARNT PAS-B dimerization: use of a common beta-sheet interface for hetero- and homodimerization.

PubMed ID: 16181639

DOI: 10.1016/j.jmb.2005.08.043

PubMed ID: 18378852

Title: Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

PubMed ID: 18378852

DOI: 10.1182/blood-2008-02-137703

PubMed ID: 25043035

Title: Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA.

PubMed ID: 25043035

DOI: 10.1038/nature13408

PubMed ID: 31189709

Title: The Kaposi's Sarcoma-Associated Herpesvirus ORF34 Protein Interacts and Stabilizes HIF-2alpha via Binding to the HIF-2alpha bHLH and PAS Domains.

PubMed ID: 31189709

DOI: 10.1128/jvi.00764-19

PubMed ID: 34050022

Title: The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans.

PubMed ID: 34050022

DOI: 10.1073/pnas.2020803118

PubMed ID: 36417539

Title: A pleiotropic hypoxia-sensitive EPAS1 enhancer is disrupted by adaptive alleles in Tibetans.

PubMed ID: 36417539

DOI: 10.1126/sciadv.ade1942

PubMed ID: 36930720

Title: Human genetic history on the Tibetan Plateau in the past 5100 years.

PubMed ID: 36930720

DOI: 10.1126/sciadv.add5582

PubMed ID: 18184961

Title: A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

PubMed ID: 18184961

DOI: 10.1056/nejmoa073123

PubMed ID: 22367913

Title: Two new mutations in the HIF2A gene associated with erythrocytosis.

PubMed ID: 22367913

DOI: 10.1002/ajh.23123

Sequence Information:

  • Length: 870
  • Mass: 96459
  • Checksum: 4838989598234FC1
  • Sequence:
  • MTADKEKKRS SSERRKEKSR DAARCRRSKE TEVFYELAHE LPLPHSVSSH LDKASIMRLA 
    ISFLRTHKLL SSVCSENESE AEADQQMDNL YLKALEGFIA VVTQDGDMIF LSENISKFMG 
    LTQVELTGHS IFDFTHPCDH EEIRENLSLK NGSGFGKKSK DMSTERDFFM RMKCTVTNRG 
    RTVNLKSATW KVLHCTGQVK VYNNCPPHNS LCGYKEPLLS CLIIMCEPIQ HPSHMDIPLD 
    SKTFLSRHSM DMKFTYCDDR ITELIGYHPE ELLGRSAYEF YHALDSENMT KSHQNLCTKG 
    QVVSGQYRML AKHGGYVWLE TQGTVIYNPR NLQPQCIMCV NYVLSEIEKN DVVFSMDQTE 
    SLFKPHLMAM NSIFDSSGKG AVSEKSNFLF TKLKEEPEEL AQLAPTPGDA IISLDFGNQN 
    FEESSAYGKA ILPPSQPWAT ELRSHSTQSE AGSLPAFTVP QAAAPGSTTP SATSSSSSCS 
    TPNSPEDYYT SLDNDLKIEV IEKLFAMDTE AKDQCSTQTD FNELDLETLA PYIPMDGEDF 
    QLSPICPEER LLAENPQSTP QHCFSAMTNI FQPLAPVAPH SPFLLDKFQQ QLESKKTEPE 
    HRPMSSIFFD AGSKASLPPC CGQASTPLSS MGGRSNTQWP PDPPLHFGPT KWAVGDQRTE 
    FLGAAPLGPP VSPPHVSTFK TRSAKGFGAR GPDVLSPAMV ALSNKLKLKR QLEYEEQAFQ 
    DLSGGDPPGG STSHLMWKRM KNLRGGSCPL MPDKPLSANV PNDKFTQNPM RGLGHPLRHL 
    PLPQPPSAIS PGENSKSRFP PQCYATQYQD YSLSSAHKVS GMASRLLGPS FESYLLPELT 
    RYDCEVNVPV LGSSTLLQGG DLLRALDQAT

Genular Protein ID: 192220275

Symbol: B3KW07_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 336
  • Mass: 36509
  • Checksum: D5C86DD03FDE0B34
  • Sequence:
  • MDGEDFQLSP ICPEERLLAE NPQSTPQHCF SAMTNIFQPL APVAPHSPFL LDKFQQQLES 
    KKTEPEHRPM SSIFFDAGSK ASLPPCCGQA STPLSSMGGR SNTQWPPDPP LHFGPTKWAV 
    GDQRTEFLGA APLGPPVSPP HVSTFKTRSA KGFGARGPDV LSPAMVALSN KLKLKRQLEY 
    EEQAFQDLSG GDPPGGSTSH LMWKRMKNLR GGSCPLMPDK PLSANVPNDK FTQNPMRGLG 
    HPLRHLPLPQ PPSAISPGEN SKSRFPPQCY ATQYQDYSLS SAHKVSGMAS RLLGPSFESY 
    LLPELTRYDC EVNVPVLGSS TLLQGGDLLR ALDQAT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.