Optn optineurin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Optnprovided by RGD
Official Full Name: optineurinprovided by RGD
Primary source: RGD:628886
See related: EnsemblRapid:ENSRNOG00000017941 AllianceGenome:RGD:628886
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Fip2
Summary: Enables TFIIIA-class transcription factor binding activity; identical protein binding activity; and ubiquitin binding activity. Involved in several processes, including cellular response to L-glutamate; cellular response to hydrogen peroxide; and regulation of neuron apoptotic process. Located in several cellular components, including Golgi apparatus; neuronal cell body; and perinuclear region of cytoplasm. Biomarker of Parkinson's disease; bladder neck obstruction; proteinuria; and transient cerebral ischemia. Human ortholog(s) of this gene implicated in Paget's disease of bone; amyotrophic lateral sclerosis (multiple); and glaucoma (multiple). Orthologous to human OPTN (optineurin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Adrenal (RPKM 405.0), Muscle (RPKM 401.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 17q12.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	17	NC_086035.1 (78118847..78169543)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	17	NC_051352.1 (73209572..73260251)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	17	NC_005116.4 (77167700..77218374)

Chromosome 17 - NC_086035.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Degradation of engulfed mitochondria is rate-limiting in Optineurin-mediated mitophagy in neurons.
Title: Degradation of engulfed mitochondria is rate-limiting in Optineurin-mediated mitophagy in neurons.
Overexpression of E50K-mutated optineurin triggered BDNF deficiency, leading to Bax activation in a retinal photoreceptor cell line.
Title: Optineurin E50K triggers BDNF deficiency-mediated mitochondrial dysfunction in retinal photoreceptor cell line.
optineurin appears to play an important role in the maintenance of the podocyte Golgi complex.
Title: Optineurin associates with the podocyte Golgi complex to maintain its structure.
in a normal homeostatic situation, the turnover of endogenous optineurin involves mainly ubiquitin-proteasome pathway (UPP). When optineurin is up-regulated or mutated, the UPP function is compromised, and autophagy comes into play.
Title: Processing of optineurin in neuronal cells.
These results demonstrated that the two glaucoma genes, myocilin and optineurin, exhibited differential effects on neurite outgrowth.
Title: Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth.
mGLuR1a signaling is attenuated by the huntingtin-binding protein optineurin
Title: Inhibition of metabotropic glutamate receptor signaling by the huntingtin-binding protein optineurin.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BM387785 (e-PCR)
- UniSTS:261697

BI294994 (e-PCR)
- UniSTS:246161

RH136760 (e-PCR)
- UniSTS:218849

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables K63-linked polyubiquitin modification-dependent protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables K63-linked polyubiquitin modification-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables K63-linked polyubiquitin modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables TFIIIA-class transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables polyubiquitin modification-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
involved_in Golgi ribbon formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in Golgi ribbon formation	IEA Inferred from Electronic Annotation more info
involved_in Golgi ribbon formation	ISO Inferred from Sequence Orthology more info
involved_in Golgi ribbon formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in Golgi to plasma membrane protein transport	IEA Inferred from Electronic Annotation more info
involved_in Golgi to plasma membrane protein transport	ISO Inferred from Sequence Orthology more info
involved_in cellular response to L-glutamate	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hydrogen peroxide	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to nerve growth factor stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to tumor necrosis factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to unfolded protein	IEA Inferred from Electronic Annotation more info
involved_in cellular response to unfolded protein	ISO Inferred from Sequence Orthology more info
involved_in cellular response to unfolded protein	ISS Inferred from Sequence or Structural Similarity more info
involved_in defense response to Gram-negative bacterium	IEA Inferred from Electronic Annotation more info
involved_in defense response to Gram-negative bacterium	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of canonical NF-kappaB signal transduction	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of receptor recycling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of receptor recycling	ISO Inferred from Sequence Orthology more info
involved_in neural retina development	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of xenophagy	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of xenophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to Golgi apparatus	IEA Inferred from Electronic Annotation more info
involved_in protein localization to Golgi apparatus	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in type 2 mitophagy	IEA Inferred from Electronic Annotation more info
involved_in type 2 mitophagy	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network	ISO Inferred from Sequence Orthology more info
located_in trans-Golgi network	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: optineurin

Names: 14.7K-interacting protein 2; FIP-2-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_145081.4 → NP_659549.3 optineurin

Status: VALIDATED

Source sequence(s)

JAXUCZ010000017

UniProtKB/Swiss-Prot

Q5PQX8, Q8R5M4

UniProtKB/TrEMBL

M0RAB4

Related

ENSRNOP00000066459.3, ENSRNOT00000074087.4

Conserved Domains (4) summary

COG1196
Location:38 → 494

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam11577
Location:37 → 103

NEMO; NF-kappa-B essential modulator NEMO

pfam18414
Location:559 → 584

zf_C2H2_10; C2H2 type zinc-finger

pfam16516
Location:412 → 508

CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086035.1 Reference GRCr8

Range

78118847..78169543

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063276060.1 → XP_063132130.1 optineurin isoform X1

UniProtKB/Swiss-Prot

Q5PQX8, Q8R5M4
XM_063276061.1 → XP_063132131.1 optineurin isoform X2

UniProtKB/Swiss-Prot

Q5PQX8, Q8R5M4
XM_039095343.2 → XP_038951271.1 optineurin isoform X3

UniProtKB/Swiss-Prot

Q5PQX8, Q8R5M4

UniProtKB/TrEMBL

F1M9C4

Related

ENSRNOP00000045795.4, ENSRNOT00000042881.8

Conserved Domains (4) summary

COG1196
Location:38 → 494

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam11577
Location:37 → 103

NEMO; NF-kappa-B essential modulator NEMO

pfam18414
Location:621 → 646

zf_C2H2_10; C2H2 type zinc-finger

pfam16516
Location:412 → 508

CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
XM_006254264.5 → XP_006254326.1 optineurin isoform X4

UniProtKB/Swiss-Prot

Q5PQX8, Q8R5M4

Conserved Domains (2) summary

pfam11577
Location:37 → 104

NEMO; NF-kappa-B essential modulator NEMO

pfam16516
Location:409 → 508

CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
XM_063276062.1 → XP_063132132.1 optineurin isoform X5
XM_063276063.1 → XP_063132133.1 optineurin isoform X6