KEGG   Homo sapiens (human): 10133Help
Entry
10133             CDS       T01001                                 

Gene name
OPTN, ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
Definition
(RefSeq) optineurin
  KO
K19946  optineurin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00612  Primary open angle glaucoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    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
   Others
    10133 (OPTN)
 Autophagy
  Mitophagy
   PINK1-Parkin associated proteins
    10133 (OPTN)
  Xenophagy
   Cargo receptors
    10133 (OPTN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: CC2-LZ NEMO zf_C2H2_10
Motif
Other DBs
NCBI-GeneID: 10133
NCBI-ProteinID: NP_001008212
OMIM: 602432
HGNC: 17142
Ensembl: ENSG00000123240
Vega: OTTHUMG00000017690
Pharos: Q96CV9(Tbio)
UniProt: Q96CV9
Structure
PDB: 

Position
10p13
AA seq 577 aa AA seqDB search
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKL
NNQAMKGRFEELSAWTEKQKEERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSER
SSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGIVSELQLKLNSSGSSEDSFVE
IRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL
REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVE
ALNLQVTSLFKELQEAHTKLSEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKK
LELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEHNNALKTIEELTRKESEKVDR
AVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA
AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAE
DRDWRQQRNIPIHSCPKCGEVLPDIDTLQIHVMDCII
NT seq 1734 nt NT seq  +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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