Details for: EPAS1

Gene ID: 2034

Symbol: EPAS1

Ensembl ID: ENSG00000116016

Description: endothelial PAS domain protein 1

Associated with

Cells (max top 100)

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

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 226.8145
    Cell Significance Index: -57.5300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 111.6534
    Cell Significance Index: -45.3600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 110.7665
    Cell Significance Index: -45.6300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 47.6149
    Cell Significance Index: -45.4600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 46.6116
    Cell Significance Index: -57.4700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 19.6291
    Cell Significance Index: -42.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 19.6128
    Cell Significance Index: -52.5400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.3840
    Cell Significance Index: -56.7600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 12.7748
    Cell Significance Index: 665.4200
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 9.5842
    Cell Significance Index: 35.7200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 7.3026
    Cell Significance Index: 105.0300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 7.2835
    Cell Significance Index: 194.4800
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 6.7111
    Cell Significance Index: 69.5100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 4.5905
    Cell Significance Index: 81.1200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 4.1573
    Cell Significance Index: 70.0300
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.9661
    Cell Significance Index: 18.4300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.7837
    Cell Significance Index: 37.9800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.7129
    Cell Significance Index: 30.8200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 2.3404
    Cell Significance Index: 14.1400
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 2.3044
    Cell Significance Index: 10.6400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.1971
    Cell Significance Index: 418.1300
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.6425
    Cell Significance Index: 14.5800
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 1.6240
    Cell Significance Index: 5.6500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.4137
    Cell Significance Index: 280.5500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9061
    Cell Significance Index: 163.3400
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: 0.8763
    Cell Significance Index: 12.0000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.8756
    Cell Significance Index: 25.1000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7982
    Cell Significance Index: 98.1500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7145
    Cell Significance Index: 116.2100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.6983
    Cell Significance Index: 436.0500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.5984
    Cell Significance Index: 4.8800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5774
    Cell Significance Index: 43.0300
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.5622
    Cell Significance Index: 3.5200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5043
    Cell Significance Index: 455.3300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4965
    Cell Significance Index: 29.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4592
    Cell Significance Index: 49.9500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4421
    Cell Significance Index: 20.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2568
    Cell Significance Index: 32.9200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2493
    Cell Significance Index: 5.4000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2380
    Cell Significance Index: 129.9600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.2331
    Cell Significance Index: 26.6100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1983
    Cell Significance Index: 13.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1757
    Cell Significance Index: 17.3800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1656
    Cell Significance Index: 1.5300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1612
    Cell Significance Index: 4.0300
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1569
    Cell Significance Index: 1.8700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1028
    Cell Significance Index: 65.2900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0891
    Cell Significance Index: 6.8400
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.0830
    Cell Significance Index: 0.6600
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.0671
    Cell Significance Index: 0.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0458
    Cell Significance Index: 2.8900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0219
    Cell Significance Index: 0.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0086
    Cell Significance Index: 1.1900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0045
    Cell Significance Index: 3.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0112
    Cell Significance Index: -1.9200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0118
    Cell Significance Index: -5.2000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0126
    Cell Significance Index: -17.0700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0165
    Cell Significance Index: -31.0000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0238
    Cell Significance Index: -16.4900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0245
    Cell Significance Index: -18.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0256
    Cell Significance Index: -47.1900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0284
    Cell Significance Index: -43.6800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0560
    Cell Significance Index: -0.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0588
    Cell Significance Index: -33.1400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0602
    Cell Significance Index: -27.3300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0622
    Cell Significance Index: -45.6100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0825
    Cell Significance Index: -9.4500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1270
    Cell Significance Index: -26.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1319
    Cell Significance Index: -19.1700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.1456
    Cell Significance Index: -52.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1540
    Cell Significance Index: -44.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1936
    Cell Significance Index: -38.8400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1962
    Cell Significance Index: -20.0400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2347
    Cell Significance Index: -27.3600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2570
    Cell Significance Index: -33.2000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2897
    Cell Significance Index: -15.0500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3468
    Cell Significance Index: -4.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3633
    Cell Significance Index: -9.8900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3991
    Cell Significance Index: -18.6100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.4426
    Cell Significance Index: -52.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4609
    Cell Significance Index: -28.2600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.5029
    Cell Significance Index: -7.7800
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: -0.5033
    Cell Significance Index: -4.7800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5321
    Cell Significance Index: -55.4000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.5596
    Cell Significance Index: -28.2800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.5912
    Cell Significance Index: -41.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6051
    Cell Significance Index: -47.9200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.6173
    Cell Significance Index: -34.6400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6398
    Cell Significance Index: -17.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6443
    Cell Significance Index: -30.2800
  • Cell Name: embryonic fibroblast (CL2000042)
    Fold Change: -0.6648
    Cell Significance Index: -3.1800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.7039
    Cell Significance Index: -15.0500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.7840
    Cell Significance Index: -50.5800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.8084
    Cell Significance Index: -54.3600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.8816
    Cell Significance Index: -13.2100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8820
    Cell Significance Index: -18.7900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.8969
    Cell Significance Index: -55.1300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.0611
    Cell Significance Index: -33.9900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.0637
    Cell Significance Index: -55.8500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.0883
    Cell Significance Index: -48.1400

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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.