Optn optineurin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Optnprovided by MGI
Official Full Name: optineurinprovided by MGI
Primary source: MGI:MGI:1918898
See related: Ensembl:ENSMUSG00000026672 AllianceGenome:MGI:1918898
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NRP; FIP2; HYPL; 4930441O07Rik
Summary: Enables K63-linked polyubiquitin modification-dependent protein binding activity. Acts upstream of or within negative regulation of canonical NF-kappaB signal transduction and protein localization. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; eye; genitourinary system; musculoskeletal system; and nervous system. Used to study low tension glaucoma. 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, Nov 2024]
Expression: Broad expression in testis adult (RPKM 13.7), duodenum adult (RPKM 13.6) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A1; 2 3.15 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (5023902..5069210, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (5020521..5064399, complement)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Optineurin regulates osteoblast function in an age-dependent fashion in a mouse model of Paget's disease of bone.
Title: Optineurin regulates osteoblast function in an age-dependent fashion in a mouse model of Paget's disease of bone.
Deciphering the mitophagy receptor network identifies a crucial role for OPTN (optineurin) in acute myeloid leukemia.
Title: Deciphering the mitophagy receptor network identifies a crucial role for OPTN (optineurin) in acute myeloid leukemia.
Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.
Title: Optineurin deficiency impairs autophagy to cause interferon beta overproduction and increased survival of mice following viral infection.
Optineurin regulates NRF2-mediated antioxidant response in a mouse model of Paget's disease of bone.
Title: Optineurin regulates NRF2-mediated antioxidant response in a mouse model of Paget's disease of bone.
OPTN attenuates the neurotoxicity of abnormal Tau protein by restoring autophagy.
Title: OPTN attenuates the neurotoxicity of abnormal Tau protein by restoring autophagy.
Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions.
Title: Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions.
Optineurin promotes myogenesis during muscle regeneration in mice by autophagic degradation of GSK3beta.
Title: Optineurin promotes myogenesis during muscle regeneration in mice by autophagic degradation of GSK3β.
Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation.
Title: Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation.
Autophagy receptor OPTN (optineurin) regulates mesenchymal stem cell fate and bone-fat balance during aging by clearing FABP3.
Title: Autophagy receptor OPTN (optineurin) regulates mesenchymal stem cell fate and bone-fat balance during aging by clearing FABP3.
Deficiency of optineurin enhances osteoclast differentiation by attenuating the NRF2-mediated antioxidant response.
Title: Deficiency of optineurin enhances osteoclast differentiation by attenuating the NRF2-mediated antioxidant response.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH125169 (e-PCR)
- UniSTS:161991

D2Bwg1072e (e-PCR), detects polymorphism
- UniSTS:142296

Optn (e-PCR), detects polymorphism
- UniSTS:507111

Optn (e-PCR), detects polymorphism
- UniSTS:502772

Gene Ontology Provided by MGI

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	IDA Inferred from Direct Assay more info	PubMed
enables TFIIIA-class transcription factor binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
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 binding	IPI Inferred from Physical Interaction more info	PubMed
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	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
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	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 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 innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
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 positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cytokine production	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neural precursor cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron apoptotic process	ISO Inferred from Sequence Orthology more info
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	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: TFIIIA-INTP

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_001356487.1 → NP_001343416.1 optineurin

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AL928662

Consensus CDS

CCDS15663.1

UniProtKB/Swiss-Prot

A2ASP3, Q8K3K8

Related

ENSMUSP00000110648.2, ENSMUST00000114996.8

Conserved Domains (4) summary

COG1196
Location:77 → 424

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

pfam11577
Location:37 → 103

NEMO; NF-kappa-B essential modulator NEMO

pfam18414
Location:558 → 583

zf_C2H2_10; C2H2 type zinc-finger

pfam16516
Location:411 → 507

CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
NM_181848.5 → NP_862896.1 optineurin

See identical proteins and their annotated locations for NP_862896.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.

Source sequence(s)

AL928662, BC061185, CJ064660

Consensus CDS

CCDS15663.1

UniProtKB/Swiss-Prot

A2ASP3, Q8K3K8

Related

ENSMUSP00000027986.5, ENSMUST00000027986.5

Conserved Domains (4) summary

COG1196
Location:77 → 424

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

pfam11577
Location:37 → 103

NEMO; NF-kappa-B essential modulator NEMO

pfam18414
Location:558 → 583

zf_C2H2_10; C2H2 type zinc-finger

pfam16516
Location:411 → 507

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

5023902..5069210 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011238987.4 → XP_011237289.1 optineurin isoform X1

See identical proteins and their annotated locations for XP_011237289.1

UniProtKB/Swiss-Prot

A2ASP3, Q8K3K8

Conserved Domains (4) summary

COG1196
Location:77 → 424

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

pfam11577
Location:37 → 103

NEMO; NF-kappa-B essential modulator NEMO

pfam18414
Location:558 → 583

zf_C2H2_10; C2H2 type zinc-finger

pfam16516
Location:411 → 507

CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
XM_030252089.2 → XP_030107949.1 optineurin isoform X2

Conserved Domains (3) summary

TIGR02168
Location:87 → 368

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam16516
Location:254 → 350

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

pfam18414
Location:401 → 426

zf_C2H2_10; C2H2 type zinc-finger
XM_006497548.5 → XP_006497611.1 optineurin isoform X2

Conserved Domains (3) summary

TIGR02168
Location:87 → 368

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam16516
Location:254 → 350

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

pfam18414
Location:401 → 426

zf_C2H2_10; C2H2 type zinc-finger
XM_006497547.5 → XP_006497610.1 optineurin isoform X1

See identical proteins and their annotated locations for XP_006497610.1

UniProtKB/Swiss-Prot

A2ASP3, Q8K3K8

Conserved Domains (4) summary

COG1196
Location:77 → 424

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

pfam11577
Location:37 → 103

NEMO; NF-kappa-B essential modulator NEMO

pfam18414
Location:558 → 583

zf_C2H2_10; C2H2 type zinc-finger

pfam16516
Location:411 → 507

CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
XM_011238988.2 → XP_011237290.1 optineurin isoform X3

Conserved Domains (3) summary

TIGR02168
Location:43 → 324

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam16516
Location:210 → 306

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

pfam18414
Location:357 → 382

zf_C2H2_10; C2H2 type zinc-finger