| Entry |
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| Symbol |
OPTN, ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
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| Name |
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| KO |
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| Organism |
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| Pathway |
| hsa05022 | Pathways of neurodegeneration - multiple diseases |
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| Network |
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| Element |
| N01137 | PINK-Parkin-mediated autophagosome formation |
| N01138 | Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation |
| N01140 | TBK1-mediated autophagosome formation |
| N01141 | Mutation-inactivated TBK1 to TBK1-mediated autophagosome formation |
| N01716 | Autophagy-vesicle nucleation/elongation/maturation, sequestosome-1-like receptor |
| N01756 | PINK-Parkin-independent ubiquitin-mediated mitophagy |
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| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
| H00612 | Primary open angle glaucoma |
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| Brite |
KEGG Orthology (KO) [BR:hsa00001]
09140 Cellular Processes
09141 Transport and catabolism
04140 Autophagy - animal
10133 (OPTN)
04137 Mitophagy - animal
10133 (OPTN)
09160 Human Diseases
09164 Neurodegenerative disease
05014 Amyotrophic lateral sclerosis
10133 (OPTN)
05022 Pathways of neurodegeneration - multiple diseases
10133 (OPTN)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
04131 Membrane trafficking [BR:hsa04131]
10133 (OPTN)
Membrane trafficking [BR:hsa04131]
Exocytosis
Small GTPases and associated proteins
Rab associated proteins
10133 (OPTN)
Protein recycling
Rab GTPases and associated proteins
Other Rab GTPase associated proteins
10133 (OPTN)
Autophagy
Mitophagy
PINK1-Parkin associated proteins
10133 (OPTN)
Xenophagy
Cargo receptors
10133 (OPTN)
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| SSDB |
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| Motif |
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| Other DBs |
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| Structure |
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| LinkDB |
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| Position |
10:13100082..13138308
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| AA seq |
577 aa
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKL
NNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSER
SSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVE
IRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL
REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKK
LELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA
AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAE
DRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII |
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| NT seq |
1734 nt +upstreamnt +downstreamnt
atgtcccatcaacctctcagctgcctcactgaaaaggaggacagccccagtgaaagcaca
ggaaatggacccccccacctggcccacccaaacctggacacgtttaccccggaggagctg
ctgcagcagatgaaagagctcctgaccgagaaccaccagctgaaagaagccatgaagcta
aataatcaagccatgaaagggagatttgaggagctttcggcctggacagagaaacagaag
gaagaacgccagttttttgagatacagagcaaagaagcaaaagagcgtctaatggccttg
agtcatgagaatgagaaattgaaggaagagcttggaaaactaaaagggaaatcagaaagg
tcatctgaggaccccactgatgactccaggcttcccagggccgaagcggagcaggaaaag
gaccagctcaggacccaggtggtgaggctacaagcagagaaggcagacctgttgggcatc
gtgtctgaactgcagctcaagctgaactccagcggctcctcagaagattcctttgttgaa
attaggatggctgaaggagaagcagaagggtcagtaaaagaaatcaagcatagtcctggg
cccacgagaacagtctccactggcacggcattgtctaaatataggagcagatctgcagat
ggggccaagaattacttcgaacatgaggagttaactgtgagccagctcctgctgtgccta
agggaagggaatcagaaggtggagagacttgaagttgcactcaaggaggccaaagaaaga
gtttcagattttgaaaagaaaacaagtaatcgttctgagattgaaacccagacagagggg
agcacagagaaagagaatgatgaagagaaaggcccggagactgttggaagcgaagtggaa
gcactgaacctccaggtgacatctctgtttaaggagcttcaagaggctcatacaaaactc
agcgaagctgagctaatgaagaagagacttcaagaaaagtgtcaggcccttgaaaggaaa
aattctgcaattccatcagagttgaatgaaaagcaagagcttgtttatactaacaaaaag
ttagagctacaagtggaaagcatgctatcagaaatcaaaatggaacaggctaaaacagag
gatgaaaagtccaaattaactgtgctacagatgacacacaacaagcttcttcaagaacat
aataatgcattgaaaacaattgaggaactaacaagaaaagagtcagaaaaagtggacagg
gcagtgctgaaggaactgagtgaaaaactggaactggcagagaaggctctggcttccaaa
cagctgcaaatggatgaaatgaagcaaaccattgccaagcaggaagaggacctggaaacc
atgaccatcctcagggctcagatggaagtttactgttctgattttcatgctgaaagagca
gcgagagagaaaattcatgaggaaaaggagcaactggcattgcagctggcagttctgctg
aaagagaatgatgctttcgaagacggaggcaggcagtccttgatggagatgcagagtcgt
catggggcgagaacaagtgactctgaccagcaggcttaccttgttcaaagaggagctgag
gacagggactggcggcaacagcggaatattccgattcattcctgccccaagtgtggagag
gttctgcctgacatagacacgttacagattcacgtgatggattgcatcatttaa |
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