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OPTN optineurin [ Homo sapiens (human) ]

Gene ID: 10133, updated on 10-Mar-2024

Summary

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Official Symbol
OPTNprovided by HGNC
Official Full Name
optineurinprovided by HGNC
Primary source
HGNC:HGNC:17142
See related
Ensembl:ENSG00000123240 MIM:602432; AllianceGenome:HGNC:17142
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NRP; FIP2; HIP7; HYPL; ALS12; GLC1E; TFIIIA-INTP
Summary
This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 52.0), adrenal (RPKM 41.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
10p13
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13100082..13138308)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13114413..13152929)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13142082..13180308)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376418 Neighboring gene coiled-coil domain containing 3 Neighboring gene RNA, 5S ribosomal pseudogene 300 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13042842-13043342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13043343-13043843 Neighboring gene 10p13 CCDC3 medial Alu-mediated recombination region Neighboring gene NANOG hESC enhancer GRCh37_chr10:13091983-13092484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13108212-13108726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:13108727-13109240 Neighboring gene ribosomal protein L5 pseudogene 25 Neighboring gene 10p13 CCDC3 proximal Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2149 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3049 Neighboring gene 10p13 OPTN distal Alu-mediated recombination region Neighboring gene 10p13 OPTN proximal Alu-mediated recombination region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3050 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 5 Neighboring gene ribosomal protein L36a pseudogene 36 Neighboring gene BTB domain containing 7 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Differential optineurin expression controls TGFβ signaling and is a key determinant for metastasis of triple negative breast cancer. Liu S, et al. Int J Cancer, 2023 Jun 15. PMID 36823950
  2. A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal cells to endoplasmic reticulum stress and tumour necrosis factor α. Sayyad Z, et al. FEBS J, 2023 Jun. PMID 36705529
  3. A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay. Gotkine M, et al. Neurobiol Aging, 2021 Oct. PMID 34272080
  4. Human primary retinal cells as an in-vitro model for investigating defective signalling caused by OPTN mutants associated with glaucoma. Sayyad Z, et al. Neurochem Int, 2021 Sep. PMID 34023378
  5. Conformational stabilization of optineurin by the dynamic interaction of linear polyubiquitin. Kitamura A, et al. Biochem Biophys Res Commun, 2021 Jun 25. PMID 33951500

See all (280) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Optineurin provides a mitophagy contact site for TBK1 activation.
    Title: Optineurin provides a mitophagy contact site for TBK1 activation.
  2. Roles and mechanisms of optineurin in bone metabolism.
    Title: Roles and mechanisms of optineurin in bone metabolism.
  3. [Optineurin and mitochondrial dysfunction in neurodegeneration].
    Title: [Optineurin and mitochondrial dysfunction in neurodegeneration].
  4. Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.
    Title: Optineurin in patients with Amyotrophic Lateral Sclerosis associated to atypical Parkinsonism in Tunisian population.
  5. Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.
    Title: Role of ALS-associated OPTN-K489E mutation in neuronal cell-death regulation.
  6. 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.
  7. 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.
  8. A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal cells to endoplasmic reticulum stress and tumour necrosis factor alpha.
    Title: A glaucoma-associated OPTN polymorphism, M98K sensitizes retinal cells to endoplasmic reticulum stress and tumour necrosis factor α.
  9. Differential optineurin expression controls TGFbeta signaling and is a key determinant for metastasis of triple negative breast cancer.
    Title: Differential optineurin expression controls TGFβ signaling and is a key determinant for metastasis of triple negative breast cancer.
  10. Regulation of transferrin receptor trafficking by optineurin and its disease-associated mutants.
    Title: Regulation of transferrin receptor trafficking by optineurin and its disease-associated mutants.
Submit: New GeneRIF Correction See all GeneRIFs (170)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
EBI GWAS Catalog
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 GOA

Function Evidence Code Pubs
enables K63-linked polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Golgi organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in Golgi ribbon formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in Golgi ribbon formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in autophagy IEA
Inferred from Electronic Annotation
more info
  
involved_in cell death TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to unfolded protein IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of canonical NF-kappaB signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of receptor recycling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of autophagy IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of xenophagy 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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of canonical NF-kappaB signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
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 membrane TAS
Traceable Author Statement
more info
  
located_in autophagosome IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in recycling endosome membrane TAS
Traceable Author Statement
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
optineurin
Names
E3-14.7K-interacting protein
FIP-2
HIP-7
Huntingtin interacting protein L
huntingtin yeast partner L
huntingtin-interacting protein 7
huntingtin-interacting protein L
nemo-related protein
optic neuropathy-inducing protein
transcription factor IIIA-interacting protein
transcrption factor IIIA-interacting protein
tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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.

Genomic

  1. NG_012876.1 RefSeqGene

    Range
    5082..43227
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008211.1 → NP_001008212.1  optineurin

    See identical proteins and their annotated locations for NP_001008212.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AF070533, AF420371, BI552635
    Consensus CDS
    CCDS7094.1
    UniProtKB/Swiss-Prot
    B3KP00, D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q96CV9, Q9UET9, Q9UEV4, Q9Y218
    UniProtKB/TrEMBL
    A0A0S2Z500
    Related
    ENSP00000368022.3, ENST00000378748.7
    Conserved Domains (3) summary
    cd09803
    Location:421 → 507
    UBAN; polyubiquitin binding domain of NEMO and related proteins
    pfam11577
    Location:37 → 104
    NEMO; NF-kappa-B essential modulator NEMO
    cl25732
    Location:78 → 422
    SMC_N; RecF/RecN/SMC N terminal domain

  2. NM_001008212.2 → NP_001008213.1  optineurin

    See identical proteins and their annotated locations for NP_001008213.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AF070533, AF420371, AF420373, AL355355, BC032762, BI552635
    Consensus CDS
    CCDS7094.1
    UniProtKB/Swiss-Prot
    B3KP00, D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q96CV9, Q9UET9, Q9UEV4, Q9Y218
    UniProtKB/TrEMBL
    A0A0S2Z500
    Related
    ENSP00000368021.3, ENST00000378747.8
    Conserved Domains (3) summary
    cd09803
    Location:421 → 507
    UBAN; polyubiquitin binding domain of NEMO and related proteins
    pfam11577
    Location:37 → 104
    NEMO; NF-kappa-B essential modulator NEMO
    cl25732
    Location:78 → 422
    SMC_N; RecF/RecN/SMC N terminal domain

  3. NM_001008213.1 → NP_001008214.1  optineurin

    See identical proteins and their annotated locations for NP_001008214.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AF070533, AF420371, BC032762, BI552635
    Consensus CDS
    CCDS7094.1
    UniProtKB/Swiss-Prot
    B3KP00, D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q96CV9, Q9UET9, Q9UEV4, Q9Y218
    UniProtKB/TrEMBL
    A0A0S2Z500
    Related
    ENSP00000368027.3, ENST00000378752.7
    Conserved Domains (3) summary
    cd09803
    Location:421 → 507
    UBAN; polyubiquitin binding domain of NEMO and related proteins
    pfam11577
    Location:37 → 104
    NEMO; NF-kappa-B essential modulator NEMO
    cl25732
    Location:78 → 422
    SMC_N; RecF/RecN/SMC N terminal domain

  4. NM_021980.4 → NP_068815.2  optineurin

    See identical proteins and their annotated locations for NP_068815.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 encode the same protein.
    Source sequence(s)
    AF070533, AF420371, AF420372, BC032762, BI552635
    Consensus CDS
    CCDS7094.1
    UniProtKB/Swiss-Prot
    B3KP00, D3DRS4, D3DRS8, Q5T672, Q5T673, Q5T674, Q5T675, Q7LDL9, Q8N562, Q96CV9, Q9UET9, Q9UEV4, Q9Y218
    UniProtKB/TrEMBL
    A0A0S2Z500
    Related
    ENSP00000368032.2, ENST00000378757.6
    Conserved Domains (3) summary
    cd09803
    Location:421 → 507
    UBAN; polyubiquitin binding domain of NEMO and related proteins
    pfam11577
    Location:37 → 104
    NEMO; NF-kappa-B essential modulator NEMO
    cl25732
    Location:78 → 422
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    13100082..13138308
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    13114413..13152929
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96CV9.3 GenPept UniProtKB/Swiss-Prot:Q96CV9

Gene LinkOut

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