KEGG   Homo sapiens (human): 2034
Entry
2034              CDS       T01001                                 
Symbol
EPAS1, ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
Name
(RefSeq) endothelial PAS domain protein 1
  KO
K09095  hypoxia-inducible factor 2 alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
Disease
H00236  Congenital polycythemia
H01510  Malignant paraganglioma
Drug target
Belzutifan: D11954<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    2034 (EPAS1)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    2034 (EPAS1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    2034 (EPAS1)
   04131 Membrane trafficking [BR:hsa04131]
    2034 (EPAS1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Factors with PAS domain
    2034 (EPAS1)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Pexophagy
   Other pexophagy associated proteins
    2034 (EPAS1)
SSDB
Motif
Pfam: PAS_3 PAS_11 HIF-1a_CTAD HIF-1 PAS PAS_9 PAS_4 HLH Corona_I
Other DBs
NCBI-GeneID: 2034
NCBI-ProteinID: NP_001421
OMIM: 603349
HGNC: 3374
Ensembl: ENSG00000116016
UniProt: Q99814 B3KW07
Structure
Position
2:46297407..46386697
AA seq 870 aa
MTADKEKKRSSSERRKEKSRDAARCRRSKETEVFYELAHELPLPHSVSSHLDKASIMRLA
ISFLRTHKLLSSVCSENESEAEADQQMDNLYLKALEGFIAVVTQDGDMIFLSENISKFMG
LTQVELTGHSIFDFTHPCDHEEIRENLSLKNGSGFGKKSKDMSTERDFFMRMKCTVTNRG
RTVNLKSATWKVLHCTGQVKVYNNCPPHNSLCGYKEPLLSCLIIMCEPIQHPSHMDIPLD
SKTFLSRHSMDMKFTYCDDRITELIGYHPEELLGRSAYEFYHALDSENMTKSHQNLCTKG
QVVSGQYRMLAKHGGYVWLETQGTVIYNPRNLQPQCIMCVNYVLSEIEKNDVVFSMDQTE
SLFKPHLMAMNSIFDSSGKGAVSEKSNFLFTKLKEEPEELAQLAPTPGDAIISLDFGNQN
FEESSAYGKAILPPSQPWATELRSHSTQSEAGSLPAFTVPQAAAPGSTTPSATSSSSSCS
TPNSPEDYYTSLDNDLKIEVIEKLFAMDTEAKDQCSTQTDFNELDLETLAPYIPMDGEDF
QLSPICPEERLLAENPQSTPQHCFSAMTNIFQPLAPVAPHSPFLLDKFQQQLESKKTEPE
HRPMSSIFFDAGSKASLPPCCGQASTPLSSMGGRSNTQWPPDPPLHFGPTKWAVGDQRTE
FLGAAPLGPPVSPPHVSTFKTRSAKGFGARGPDVLSPAMVALSNKLKLKRQLEYEEQAFQ
DLSGGDPPGGSTSHLMWKRMKNLRGGSCPLMPDKPLSANVPNDKFTQNPMRGLGHPLRHL
PLPQPPSAISPGENSKSRFPPQCYATQYQDYSLSSAHKVSGMASRLLGPSFESYLLPELT
RYDCEVNVPVLGSSTLLQGGDLLRALDQAT
NT seq 2613 nt   +upstreamnt  +downstreamnt
atgacagctgacaaggagaagaaaaggagtagctcggagaggaggaaggagaagtcccgg
gatgctgcgcggtgccggcggagcaaggagacggaggtgttctatgagctggcccatgag
ctgcctctgccccacagtgtgagctcccatctggacaaggcctccatcatgcgactggca
atcagcttcctgcgaacacacaagctcctctcctcagtttgctctgaaaacgagtccgaa
gccgaagctgaccagcagatggacaacttgtacctgaaagccttggagggtttcattgcc
gtggtgacccaagatggcgacatgatctttctgtcagaaaacatcagcaagttcatggga
cttacacaggtggagctaacaggacatagtatctttgacttcactcatccctgcgaccat
gaggagattcgtgagaacctgagtctcaaaaatggctctggttttgggaaaaaaagcaaa
gacatgtccacagagcgggacttcttcatgaggatgaagtgcacggtcaccaacagaggc
cgtactgtcaacctcaagtcagccacctggaaggtcttgcactgcacgggccaggtgaaa
gtctacaacaactgccctcctcacaatagtctgtgtggctacaaggagcccctgctgtcc
tgcctcatcatcatgtgtgaaccaatccagcacccatcccacatggacatccccctggat
agcaagaccttcctgagccgccacagcatggacatgaagttcacctactgtgatgacaga
atcacagaactgattggttaccaccctgaggagctgcttggccgctcagcctatgaattc
taccatgcgctagactccgagaacatgaccaagagtcaccagaacttgtgcaccaagggt
caggtagtaagtggccagtaccggatgctcgcaaagcatgggggctacgtgtggctggag
acccaggggacggtcatctacaaccctcgcaacctgcagccccagtgcatcatgtgtgtc
aactacgtcctgagtgagattgagaagaatgacgtggtgttctccatggaccagactgaa
tccctgttcaagccccacctgatggccatgaacagcatctttgatagcagtggcaagggg
gctgtgtctgagaagagtaacttcctattcaccaagctaaaggaggagcccgaggagctg
gcccagctggctcccaccccaggagacgccatcatctctctggatttcgggaatcagaac
ttcgaggagtcctcagcctatggcaaggccatcctgcccccgagccagccatgggccacg
gagttgaggagccacagcacccagagcgaggctgggagcctgcctgccttcaccgtgccc
caggcagctgccccgggcagcaccacccccagtgccaccagcagcagcagcagctgctcc
acgcccaatagccctgaagactattacacatctttggataacgacctgaagattgaagtg
attgagaagctcttcgccatggacacagaggccaaggaccaatgcagtacccagacggat
ttcaatgagctggacttggagacactggcaccctatatccccatggacggggaagacttc
cagctaagccccatctgccccgaggagcggctcttggcggagaacccacagtccaccccc
cagcactgcttcagtgccatgacaaacatcttccagccactggcccctgtagccccgcac
agtcccttcctcctggacaagtttcagcagcagctggagagcaagaagacagagcccgag
caccggcccatgtcctccatcttctttgatgccggaagcaaagcatccctgccaccgtgc
tgtggccaggccagcacccctctctcttccatggggggcagatccaatacccagtggccc
ccagatccaccattacattttgggcccacaaagtgggccgtcggggatcagcgcacagag
ttcttgggagcagcgccgttggggccccctgtctctccaccccatgtctccaccttcaag
acaaggtctgcaaagggttttggggctcgaggcccagacgtgctgagtccggccatggta
gccctctccaacaagctgaagctgaagcgacagctggagtatgaagagcaagccttccag
gacctgagcgggggggacccacctggtggcagcacctcacatttgatgtggaaacggatg
aagaacctcaggggtgggagctgccctttgatgccggacaagccactgagcgcaaatgta
cccaatgataagttcacccaaaaccccatgaggggcctgggccatcccctgagacatctg
ccgctgccacagcctccatctgccatcagtcccggggagaacagcaagagcaggttcccc
ccacagtgctacgccacccagtaccaggactacagcctgtcgtcagcccacaaggtgtca
ggcatggcaagccggctgctcgggccctcatttgagtcctacctgctgcccgaactgacc
agatatgactgtgaggtgaacgtgcccgtgctgggaagctccacgctcctgcaaggaggg
gacctcctcagagccctggaccaggccacctga

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (20)   
   KEGG ORTHOLOGY (1)   
   RefGene (10)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   NAGAHAMA-S (1)   
   OC (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (19)   
   RefSeq(nuc) (3)   
   GenBank (8)   
   EMBL (8)   
3D Structure (32)   
   PDB (32)   
Protein domain (9)   
   Pfam (9)   
All databases (97)   

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