OPTN (optineurin)

2003-06-01  

Identity

HGNC
LOCATION
10p13
LOCUSID
ALIAS
ALS12,FIP2,GLC1E,HIP7,HYPL,NRP,TFIIIA-INTP
FUSION GENES

Other Information

Locus ID:

NCBI: 10133
MIM: 602432
HGNC: 17142
Ensembl: ENSG00000123240

Variants:

dbSNP: 10133
ClinVar: 10133
TCGA: ENSG00000123240
COSMIC: OPTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123240ENST00000263036Q96CV9
ENSG00000123240ENST00000378747Q96CV9
ENSG00000123240ENST00000378748Q96CV9
ENSG00000123240ENST00000378752Q96CV9
ENSG00000123240ENST00000378757Q96CV9
ENSG00000123240ENST00000378764Q96CV9
ENSG00000123240ENST00000424614H7C1H4
ENSG00000123240ENST00000430081X6RKL2
ENSG00000123240ENST00000482140A0A087X2G2
ENSG00000123240ENST00000486862A0A087WY28

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
262669772015The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy.511
216170412011Phosphorylation of the autophagy receptor optineurin restricts Salmonella growth.479
204281142010Mutations of optineurin in amyotrophic lateral sclerosis.361
118348362002Adult-onset primary open-angle glaucoma caused by mutations in optineurin.324
252949272014Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation.222
270359702016Phosphorylation of OPTN by TBK1 enhances its binding to Ub chains and promotes selective autophagy of damaged mitochondria.155
177025762007Optineurin negatively regulates TNFalpha- induced NF-kappaB activation by competing with NEMO for ubiquitinated RIP.98
259438902015Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.84
183079942008Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.78
272473822016Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy.72

Citation

Dessen P

OPTN (optineurin)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41609/optn