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
hsa04066  HIF-1 signaling pathway
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
Network
nt06542  HIF signaling
  Element
N01870  HIF-2A signaling pathway
N01871  Hydroxylation of HIF
N01872  Proteasomal degradation of HIF by VHL complex
N01873  VHL mutation to HIF-2 signaling pathway
Disease
H00236  Congenital polycythemia
H01510  Malignant paraganglioma
Drug target
Belzutifan: D11954<US>
Imdatifan: D13003
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04066 HIF-1 signaling pathway
    2034 (EPAS1)
 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: bHLH_HIF1A 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
LinkDB
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

KEGG   Homo sapiens (human): 3091
Entry
3091              CDS       T01001                                 
Symbol
HIF1A, HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78
Name
(RefSeq) hypoxia inducible factor 1 subunit alpha
  KO
K08268  hypoxia-inducible factor 1 alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04066  HIF-1 signaling pathway
hsa04137  Mitophagy - animal
hsa04140  Autophagy - animal
hsa04148  Efferocytosis
hsa04659  Th17 cell differentiation
hsa04919  Thyroid hormone signaling pathway
hsa05167  Kaposi sarcoma-associated herpesvirus infection
hsa05200  Pathways in cancer
hsa05205  Proteoglycans in cancer
hsa05208  Chemical carcinogenesis - reactive oxygen species
hsa05211  Renal cell carcinoma
hsa05230  Central carbon metabolism in cancer
hsa05231  Choline metabolism in cancer
hsa05235  PD-L1 expression and PD-1 checkpoint pathway in cancer
Network
nt06225  HIF-1 signaling (cancer)
nt06264  Renal cell carcinoma
nt06535  Efferocytosis
nt06542  HIF signaling
  Element
N00079  HIF-1 signaling pathway
N00080  Loss of VHL to HIF-1 signaling pathway
N00081  Mutation-inactivated VHL to HIF-1 signaling pathway
N01412  Metals to HTF-1 signaling pathway
N01750  Find-me signal (S1P)
N01871  Hydroxylation of HIF
N01872  Proteasomal degradation of HIF by VHL complex
Disease
H01509  Tonsillar cancer
Drug target
Firtecan pegol: D10464
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04066 HIF-1 signaling pathway
    3091 (HIF1A)
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    3091 (HIF1A)
   04137 Mitophagy - animal
    3091 (HIF1A)
   04148 Efferocytosis
    3091 (HIF1A)
 09150 Organismal Systems
  09151 Immune system
   04659 Th17 cell differentiation
    3091 (HIF1A)
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    3091 (HIF1A)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    3091 (HIF1A)
   05205 Proteoglycans in cancer
    3091 (HIF1A)
   05208 Chemical carcinogenesis - reactive oxygen species
    3091 (HIF1A)
   05230 Central carbon metabolism in cancer
    3091 (HIF1A)
   05231 Choline metabolism in cancer
    3091 (HIF1A)
   05235 PD-L1 expression and PD-1 checkpoint pathway in cancer
    3091 (HIF1A)
  09162 Cancer: specific types
   05211 Renal cell carcinoma
    3091 (HIF1A)
  09172 Infectious disease: viral
   05167 Kaposi sarcoma-associated herpesvirus infection
    3091 (HIF1A)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    3091 (HIF1A)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix (bHLH)
   Factors with PAS domain
    3091 (HIF1A)
SSDB
Motif
Pfam: bHLH_HIF1A PAS_3 PAS_11 HIF-1a_CTAD PAS HIF-1 PAS_9 PAS_4 HLH DDRGK
Other DBs
NCBI-GeneID: 3091
NCBI-ProteinID: NP_001521
OMIM: 603348
HGNC: 4910
Ensembl: ENSG00000100644
UniProt: Q16665 D0VY79
Structure
LinkDB
Position
14:61695513..61748258
AA seq 826 aa
MEGAGGANDKKKISSERRKEKSRDAARSRRSKESEVFYELAHQLPLPHNVSSHLDKASVM
RLTISYLRVRKLLDAGDLDIEDDMKAQMNCFYLKALDGFVMVLTDDGDMIYISDNVNKYM
GLTQFELTGHSVFDFTHPCDHEEMREMLTHRNGLVKKGKEQNTQRSFFLRMKCTLTSRGR
TMNIKSATWKVLHCTGHIHVYDTNSNQPQCGYKKPPMTCLVLICEPIPHPSNIEIPLDSK
TFLSRHSLDMKFSYCDERITELMGYEPEELLGRSIYEYYHALDSDHLTKTHHDMFTKGQV
TTGQYRMLAKRGGYVWVETQATVIYNTKNSQPQCIVCVNYVVSGIIQHDLIFSLQQTECV
LKPVESSDMKMTQLFTKVESEDTSSLFDKLKKEPDALTLLAPAAGDTIISLDFGSNDTET
DDQQLEEVPLYNDVMLPSPNEKLQNINLAMSPLPTAETPKPLRSSADPALNQEVALKLEP
NPESLELSFTMPQIQDQTPSPSDGSTRQSSPEPNSPSEYCFYVDSDMVNEFKLELVEKLF
AEDTEAKNPFSTQDTDLDLEMLAPYIPMDDDFQLRSFDQLSPLESSSASPESASPQSTVT
VFQQTQIQEPTANATTTTATTDELKTVTKDRMEDIKILIASPSPTHIHKETTSATSSPYR
DTQSRTASPNRAGKGVIEQTEKSHPRSPNVLSVALSQRTTVPEEELNPKILALQNAQRKR
KMEHDGSLFQAVGIGTLLQQPDDHAATTSLSWKRVKGCKSSEQNGMEQKTIILIPSDLAC
RLLGQSMDESGLPQLTSYDCEVNAPIQGSRNLLQGEELLRALDQVN
NT seq 2481 nt   +upstreamnt  +downstreamnt
atggagggcgccggcggcgcgaacgacaagaaaaagataagttctgaacgtcgaaaagaa
aagtctcgagatgcagccagatctcggcgaagtaaagaatctgaagttttttatgagctt
gctcatcagttgccacttccacataatgtgagttcgcatcttgataaggcctctgtgatg
aggcttaccatcagctatttgcgtgtgaggaaacttctggatgctggtgatttggatatt
gaagatgacatgaaagcacagatgaattgcttttatttgaaagccttggatggttttgtt
atggttctcacagatgatggtgacatgatttacatttctgataatgtgaacaaatacatg
ggattaactcagtttgaactaactggacacagtgtgtttgattttactcatccatgtgac
catgaggaaatgagagaaatgcttacacacagaaatggccttgtgaaaaagggtaaagaa
caaaacacacagcgaagcttttttctcagaatgaagtgtaccctaactagccgaggaaga
actatgaacataaagtctgcaacatggaaggtattgcactgcacaggccacattcacgta
tatgataccaacagtaaccaacctcagtgtgggtataagaaaccacctatgacctgcttg
gtgctgatttgtgaacccattcctcacccatcaaatattgaaattcctttagatagcaag
actttcctcagtcgacacagcctggatatgaaattttcttattgtgatgaaagaattacc
gaattgatgggatatgagccagaagaacttttaggccgctcaatttatgaatattatcat
gctttggactctgatcatctgaccaaaactcatcatgatatgtttactaaaggacaagtc
accacaggacagtacaggatgcttgccaaaagaggtggatatgtctgggttgaaactcaa
gcaactgtcatatataacaccaagaattctcaaccacagtgcattgtatgtgtgaattac
gttgtgagtggtattattcagcacgacttgattttctcccttcaacaaacagaatgtgtc
cttaaaccggttgaatcttcagatatgaaaatgactcagctattcaccaaagttgaatca
gaagatacaagtagcctctttgacaaacttaagaaggaacctgatgctttaactttgctg
gccccagccgctggagacacaatcatatctttagattttggcagcaacgacacagaaact
gatgaccagcaacttgaggaagtaccattatataatgatgtaatgctcccctcacccaac
gaaaaattacagaatataaatttggcaatgtctccattacccaccgctgaaacgccaaag
ccacttcgaagtagtgctgaccctgcactcaatcaagaagttgcattaaaattagaacca
aatccagagtcactggaactttcttttaccatgccccagattcaggatcagacacctagt
ccttccgatggaagcactagacaaagttcacctgagcctaatagtcccagtgaatattgt
ttttatgtggatagtgatatggtcaatgaattcaagttggaattggtagaaaaacttttt
gctgaagacacagaagcaaagaacccattttctactcaggacacagatttagacttggag
atgttagctccctatatcccaatggatgatgacttccagttacgttccttcgatcagttg
tcaccattagaaagcagttccgcaagccctgaaagcgcaagtcctcaaagcacagttaca
gtattccagcagactcaaatacaagaacctactgctaatgccaccactaccactgccacc
actgatgaattaaaaacagtgacaaaagaccgtatggaagacattaaaatattgattgca
tctccatctcctacccacatacataaagaaactactagtgccacatcatcaccatataga
gatactcaaagtcggacagcctcaccaaacagagcaggaaaaggagtcatagaacagaca
gaaaaatctcatccaagaagccctaacgtgttatctgtcgctttgagtcaaagaactaca
gttcctgaggaagaactaaatccaaagatactagctttgcagaatgctcagagaaagcga
aaaatggaacatgatggttcactttttcaagcagtaggaattggaacattattacagcag
ccagacgatcatgcagctactacatcactttcttggaaacgtgtaaaaggatgcaaatct
agtgaacagaatggaatggagcaaaagacaattattttaataccctctgatttagcatgt
agactgctggggcaatcaatggatgaaagtggattaccacagctgaccagttatgattgt
gaagttaatgctcctatacaaggcagcagaaacctactgcagggtgaagaattactcaga
gctttggatcaagttaactga

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