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    OPTN optineurin [ Homo sapiens (human) ]

    Gene ID: 10133, updated on 2-Nov-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
    mouse all
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    Genomic context

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    See OPTN in Genome Data Viewer
    Location:
    10p13
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13100082..13138308)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (13114413..13152929)
    RS_2024_09 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 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. Optineurin pathology in the spinal cord of amyotrophic lateral sclerosis/parkinsonism-dementia complex patients in Kii Peninsula, Japan. Morimoto S, et al. Brain Pathol, 2018 May. PMID 28960710, Free PMC Article
    2. Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. Michou L, et al. Bone, 2012 Oct. PMID 22796589, Free PMC Article
    3. Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients. Johnson L, et al. Neurobiol Aging, 2012 Dec. PMID 22892313
    4. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany. Weishaupt JH, et al. Neurobiol Aging, 2013 May. PMID 23062601
    5. Progressive aphasia as the presenting symptom in a patient with amyotrophic lateral sclerosis with a novel mutation in the OPTN gene. Czell D, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2013 Mar. PMID 23282279

    See all (295) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
      Title: Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
    2. Optineurin provides a mitophagy contact site for TBK1 activation.
      Title: Optineurin provides a mitophagy contact site for TBK1 activation.
    3. Roles and mechanisms of optineurin in bone metabolism.
      Title: Roles and mechanisms of optineurin in bone metabolism.
    4. [Optineurin and mitochondrial dysfunction in neurodegeneration].
      Title: [Optineurin and mitochondrial dysfunction in neurodegeneration].
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (171)

    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 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 
    involved_in type 2 mitophagy IMP
    Inferred from Mutant Phenotype
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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