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Optn optineurin [ Mus musculus (house mouse) ]

Gene ID: 71648, updated on 9-Mar-2023

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 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
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Genomic context

See Optn in Genome Data Viewer
Location:
2 A1; 2 3.15 cM
Exon count:
18
Annotation release Status Assembly Chr Location
109 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 minichromosome maintenance 10 replication initiation factor Neighboring gene predicted gene, 39755 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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 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 I-kappaB kinase/NF-kappaB signaling 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
PubMed 
involved_in protein localization to Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with Golgi apparatus ISO
Inferred from Sequence Orthology
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
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
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
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
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

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_001356487.1NP_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
    Related
    ENSMUSP00000110648.2, ENSMUST00000114996.8
    Conserved Domains (4) summary
    COG1196
    Location:77424
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam11577
    Location:37103
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:558583
    zf_C2H2_10; C2H2 type zinc-finger
    pfam16516
    Location:411507
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
  2. NM_181848.5NP_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:77424
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam11577
    Location:37103
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:558583
    zf_C2H2_10; C2H2 type zinc-finger
    pfam16516
    Location:411507
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_011238987.4XP_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:77424
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam11577
    Location:37103
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:558583
    zf_C2H2_10; C2H2 type zinc-finger
    pfam16516
    Location:411507
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
  2. XM_030252089.2XP_030107949.1  optineurin isoform X2

    Conserved Domains (3) summary
    TIGR02168
    Location:87368
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16516
    Location:254350
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
    pfam18414
    Location:401426
    zf_C2H2_10; C2H2 type zinc-finger
  3. XM_006497548.5XP_006497611.1  optineurin isoform X2

    Conserved Domains (3) summary
    TIGR02168
    Location:87368
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16516
    Location:254350
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
    pfam18414
    Location:401426
    zf_C2H2_10; C2H2 type zinc-finger
  4. XM_006497547.5XP_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:77424
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam11577
    Location:37103
    NEMO; NF-kappa-B essential modulator NEMO
    pfam18414
    Location:558583
    zf_C2H2_10; C2H2 type zinc-finger
    pfam16516
    Location:411507
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
  5. XM_011238988.2XP_011237290.1  optineurin isoform X3

    Conserved Domains (3) summary
    TIGR02168
    Location:43324
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam16516
    Location:210306
    CC2-LZ; Leucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator
    pfam18414
    Location:357382
    zf_C2H2_10; C2H2 type zinc-finger