KEGG   Homo sapiens (human): 10133
Entry
10133             CDS       T01001                                 
Symbol
OPTN, ALS12, FIP2, GLC1E, HIP7, HYPL, NRP, TFIIIA-INTP
Name
(RefSeq) optineurin
  KO
K19946  optineurin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04140  Autophagy - animal
hsa05014  Amyotrophic lateral sclerosis
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06464  Amyotrophic lateral sclerosis
nt06466  Pathways of neurodegeneration
nt06532  Autophagy
nt06536  Mitophagy
  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
H02877  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
Pfam: CC2-LZ NEMO zf_C2H2_10 FAZ1_C PDC10_C
Other DBs
NCBI-GeneID: 10133
NCBI-ProteinID: NP_001008212
OMIM: 602432
HGNC: 17142
Ensembl: ENSG00000123240
UniProt: Q96CV9
Structure
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

  All links  
Disease (4)   
   OMIM (4)   
Gene (32)   
   RefGene (20)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (36)   
   RefSeq(nuc) (4)   
   GenBank (16)   
   EMBL (16)   
3D Structure (13)   
   PDB (13)   
Protein domain (5)   
   Pfam (5)   
All databases (96)   

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