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
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 zf-C2H2 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  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (4)   
   KEGG PATHWAY (4)   
Network (10)   
   KEGG NETWORK (10)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (33)   
   KEGG ORTHOLOGY (1)   
   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 (9)   
   PDB (9)   
Protein domain (5)   
   Pfam (5)   
All databases (112)   

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