KEGG   Homo sapiens (human): 2034
Entry
2034              CDS       T01001                                 

Gene name
EPAS1, ECYT4, HIF2A, HLF, MOP2, PASD2, bHLHe73
Definition
(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
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 Corona_I HLH
Other DBs
NCBI-GeneID: 2034
NCBI-ProteinID: NP_001421
OMIM: 603349
HGNC: 3374
Ensembl: ENSG00000116016
Vega: OTTHUMG00000128818
Pharos: Q99814(Tchem)
UniProt: Q99814 B3KW07
LinkDB
Structure
PDB: 

Position
2p21
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                                 

Gene name
HIF1A, HIF-1-alpha, HIF-1A, HIF-1alpha, HIF1, HIF1-ALPHA, MOP1, PASD8, bHLHe78
Definition
(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
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
nt06124  Chemokine signaling (viruses)
nt06150  Cytokine-cytokine receptor interaction (viruses)
nt06164  Kaposi sarcoma-associated herpesvirus (KSHV)
nt06224  CXCR signaling
nt06225  HIF-1 signaling
nt06264  Renal cell carcinoma
  Element
N00079  HIF-1 signaling pathway
N00080  Loss of VHL to HIF-1 signaling pathway
N00081  Mutation-inactivated VHL to HIF-1 signaling pathway
N00157  KSHV vGPCR to GNB/G-ERK signaling pathway
N01412  Metals to HTF-1 signaling pathway
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)
 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: PAS_3 HIF-1a_CTAD PAS_11 HIF-1 PAS PAS_9 PAS_4 DDRGK HLH
Other DBs
NCBI-GeneID: 3091
NCBI-ProteinID: NP_001521
OMIM: 603348
HGNC: 4910
Ensembl: ENSG00000100644
Vega: OTTHUMG00000140344
Pharos: Q16665(Tchem)
UniProt: Q16665 D0VY79
LinkDB
Structure
PDB: 

Position
14q23.2
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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