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OPTN optineurin [ Homo sapiens (human) ]

Gene ID: 10133, updated on 17-Sep-2022

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
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Genomic context

See OPTN in Genome Data Viewer
Location:
10p13
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (13100082..13138308)
110 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 coiled-coil domain containing 3 Neighboring gene ribosomal protein L5 pseudogene 25 Neighboring gene 10p13 CCDC3 proximal Alu-mediated recombination region Neighboring gene 10p13 OPTN distal Alu-mediated recombination region Neighboring gene 10p13 OPTN proximal Alu-mediated recombination region 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

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
PubMed 
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 C-terminus binding IPI
Inferred from Physical Interaction
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 
enables small GTPase binding 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
PubMed 
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 I-kappaB kinase/NF-kappaB signaling 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
PubMed 
involved_in protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
    Q96CV9, Q9Y218
    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
    Q96CV9, Q9Y218
    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
    Q96CV9, Q9Y218
    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
    Q96CV9, Q9Y218
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)