Entry |
|
Symbol |
OPTN, ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
|
Name |
|
KO |
|
Organism |
|
Pathway |
hsa05022 | Pathways of neurodegeneration - multiple diseases |
|
Network |
|
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 |
|
Disease |
H00058 | Amyotrophic lateral sclerosis (ALS) |
H00612 | Primary open angle glaucoma |
|
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)
|
SSDB |
|
Motif |
|
Other DBs |
|
Structure |
|
LinkDB |
|
Position |
10:13100082..13138308
|
AA seq |
577 aa
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKL
NNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSER
SSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVE
IRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL
REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKK
LELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA
AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAE
DRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII |
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 |