Details for: EPAS1

Gene ID: 2034

Symbol: EPAS1

Ensembl ID: ENSG00000116016

Description: endothelial PAS domain protein 1

Associated with

Cells (max top 100)

(Marker Score score is 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: 14767
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 4.57
    Marker Score: 6617
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 4.56
    Marker Score: 6620
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.51
    Marker Score: 39618
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 4.22
    Marker Score: 4028
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 4.19
    Marker Score: 3603
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.58
    Marker Score: 26676
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 3.09
    Marker Score: 2536
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 3.09
    Marker Score: 2063
  • 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: 1796
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.76
    Marker Score: 1498
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 2.7
    Marker Score: 5383
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 2.66
    Marker Score: 1891
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.36
    Marker Score: 2093
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.26
    Marker Score: 36335
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 2.19
    Marker Score: 1964
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.19
    Marker Score: 4205
  • 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: 3446
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.02
    Marker Score: 2122
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.01
    Marker Score: 1399
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2
    Marker Score: 1132
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 1.96
    Marker Score: 1974
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.91
    Marker Score: 12479
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.91
    Marker Score: 2198
  • Cell Name: trophoblast giant cell (CL0002488)
    Fold Change: 1.89
    Marker Score: 612
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.89
    Marker Score: 1102
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.88
    Marker Score: 1767
  • 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: 1568
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.8
    Marker Score: 7066
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.79
    Marker Score: 1917
  • 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: 1894
  • 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: 2233
  • 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: 57949
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.7
    Marker Score: 1536
  • 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: 367.5
  • 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: 1846
  • 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: 1742
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.53
    Marker Score: 1843
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.52
    Marker Score: 2861
  • 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: 3525
  • 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: 2143
  • 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: 6152
  • 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: 4619
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.39
    Marker Score: 8917
  • 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: 7363
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.37
    Marker Score: 6720
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.36
    Marker Score: 2190
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.36
    Marker Score: 2579
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.35
    Marker Score: 7110
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.35
    Marker Score: 850.5
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.31
    Marker Score: 2396
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.29
    Marker Score: 3180
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.29
    Marker Score: 3551
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.28
    Marker Score: 17186
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.27
    Marker Score: 19848
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.25
    Marker Score: 4835
  • 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: 31867
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.24
    Marker Score: 369.5
  • 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: 3050
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 1.13
    Marker Score: 1120
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.13
    Marker Score: 1588
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 1.11
    Marker Score: 1074
  • 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: 2179
  • 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: 339.5

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Other Information

**Key characteristics:** * EPAS1 is a transmembrane protein with a molecular weight of approximately 130 kDa. * It is a member of the EH-domain family of proteins, which are involved in regulating autophagy. * EPAS1 contains a conserved endothelial PAS domain, which is responsible for its interaction with the autophagy receptor p53. * It is also involved in the regulation of cell survival, proliferation, and migration. **Pathways and functions:** * EPAS1 is involved in the regulation of autophagy by binding to the autophagy receptor p53 and promoting its degradation. * It also regulates cellular responses to stimuli, such as inflammation and injury. * It is involved in cellular responses to stress, such as hypoxia and heat shock. * It is also involved in the development of the cardiovascular system. **Clinical significance:** * Mutations in EPAS1 have been linked to a number of human diseases, including pulmonary hypertension, heart failure, and cancer. * EPAS1 is a potential target for the treatment of these diseases. **Additional notes:** * EPAS1 is a highly conserved protein, with a similar protein found in mice. * It is expressed in a variety of cell types, including endothelial cells, immune cells, and cancer cells. * It is a key regulator of vascular health and disease.

Genular Protein ID: 1880273405

Symbol: EPAS1_HUMAN

Name: Endothelial PAS domain-containing protein 1

UniProtKB Accession Codes:

Q99814 Q86VA2 Q99630

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 ELM 1 EMBL 3 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 34 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 37 PDBsum 32 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 7 RefSeq 1 SAM 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

B3KW07

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 Genevisible 1 GenomeRNAi 1 InterPro 1 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1

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. For the full schema, download it here.