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Optn optineurin [ Mus musculus (house mouse) ]

Gene ID: 71648, updated on 21-Apr-2024

Summary

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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 cellular protein localization and negative regulation of I-kappaB kinase/NF-kappaB signaling. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; eye; genitourinary system; musculoskeletal system; and nervous system. 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, Apr 2022]
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

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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_000068.8Genomic Context describing neighboring genes Neighboring gene upper zone of growth plate and cartilage matrix associated Neighboring gene STARR-positive B cell enhancer ABC_E3357 Neighboring gene minichromosome maintenance 10 replication initiation factor Neighboring gene predicted gene, 39755 Neighboring gene STARR-seq mESC enhancer starr_03559 Neighboring gene coiled-coil domain containing 3 Neighboring gene solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Optineurin regulates NRF2-mediated antioxidant response in a mouse model of Paget's disease of bone. Hu X, et al. Sci Adv, 2023 Jan 27. PMID 36706179, Free PMC Article
  2. Optineurin deficiency induces patchy hair loss but it is not sufficient to cause amyotrophic lateral sclerosis in mice. Moharir SC, et al. Biochim Biophys Acta Mol Basis Dis, 2022 Oct 1. PMID 35750266
  3. OPTN attenuates the neurotoxicity of abnormal Tau protein by restoring autophagy. Xu Y, et al. Transl Psychiatry, 2022 Jun 4. PMID 35662233, Free PMC Article
  4. Age-related visual impairments and retinal ganglion cells axonal degeneration in a mouse model harboring OPTN (E50K) mutation. Hou M, et al. Cell Death Dis, 2022 Apr 18. PMID 35436991, Free PMC Article
  5. Knockdown of optineurin controls C2C12 myoblast differentiation via regulating myogenin and MyoD expressions. Ishikawa K, et al. Differentiation, 2022 Jan-Feb. PMID 34844057

See all (88) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. OPTN attenuates the neurotoxicity of abnormal Tau protein by restoring autophagy.
    Title: OPTN attenuates the neurotoxicity of abnormal Tau protein by restoring autophagy.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 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 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 to plasma membrane protein transport ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to unfolded protein ISO
Inferred from Sequence Orthology
more info
  
involved_in defense response to Gram-negative bacterium ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within 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 ISO
Inferred from Sequence Orthology
more info
  
involved_in parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of autophagy 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 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 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
  
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 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 ISO
Inferred from Sequence Orthology
more info
  
located_in endosome IEA
Inferred from Electronic Annotation
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 trans-Golgi network ISO
Inferred from Sequence Orthology
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)

  1. 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

  2. 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

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    5023902..5069210 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8K3K8.1 GenPept UniProtKB/Swiss-Prot:Q8K3K8

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