U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    OPTN optineurin [ Homo sapiens (human) ]

    Gene ID: 10133, updated on 5-May-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OPTN in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_001008211.1NP_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:421507
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      pfam11577
      Location:37104
      NEMO; NF-kappa-B essential modulator NEMO
      cl25732
      Location:78422
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_001008212.2NP_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:421507
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      pfam11577
      Location:37104
      NEMO; NF-kappa-B essential modulator NEMO
      cl25732
      Location:78422
      SMC_N; RecF/RecN/SMC N terminal domain
    3. NM_001008213.1NP_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:421507
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      pfam11577
      Location:37104
      NEMO; NF-kappa-B essential modulator NEMO
      cl25732
      Location:78422
      SMC_N; RecF/RecN/SMC N terminal domain
    4. NM_021980.4NP_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:421507
      UBAN; polyubiquitin binding domain of NEMO and related proteins
      pfam11577
      Location:37104
      NEMO; NF-kappa-B essential modulator NEMO
      cl25732
      Location:78422
      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)