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
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
Vega:
OTTHUMG00000128818
Pharos:
Q99814
(Tchem)
UniProt:
Q99814
B3KW07
LinkDB
Structure
PDB:
3F1P
3F1N
6D0C
4GHI
3H82
6D0B
6CZW
3F1O
3H7W
4XT2
4GS9
6D09
5TBM
5UFP
4PKY
5KIZ
2A24
1P97
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
+upstream
nt +downstream
nt
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
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
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 (virus)
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
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)
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
PAS_11
HIF-1a_CTAD
PAS
HIF-1
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:
4H6J
1H2K
1H2L
1H2M
1L8C
1L3E
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
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
