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OPTN optineurin [ Homo sapiens (human) ]

Gene ID: 10133, updated on 12-Aug-2018

Summary

Official Symbol
OPTNprovided by HGNC
Official Full Name
optineurinprovided by HGNC
Primary source
HGNC:HGNC:17142
See related
Ensembl:ENSG00000123240 MIM:602432; Vega:OTTHUMG00000017690
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

Genomic context

See OPTN in Genome Data Viewer
Location:
10p13
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (13100082..13138276)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (13141425..13180291)

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • G2/M Transition, organism-specific biosystem (from REACTOME)
    G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
    Mitotic G2-G2/M phases, organism-specific biosystem
    Mitotic G2-G2/M phases
  • Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystem (from REACTOME)
    Regulation of PLK1 Activity at G2/M Transition, organism-specific biosystemThe kinase activity of PLK1 is required for cell cycle progression as PLK1 phosphorylates and regulates a number of cellular proteins during mitosis. Centrosomic AURKA (Aurora A kinase), catalyticall...
  • TBC/RABGAPs, organism-specific biosystem (from REACTOME)
    TBC/RABGAPs, organism-specific biosystemRab GTPases are peripheral membrane proteins involved in membrane trafficking. Often through their indirect interactions with coat components, motors, tethering factors and SNAREs, the Rab GTPases se...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
K63-linked polyubiquitin modification-dependent protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
polyubiquitin modification-dependent protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding, bridging IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G2/M transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi ribbon formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi ribbon formation IDA
Inferred from Direct Assay
more info
PubMed 
Golgi ribbon formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi to plasma membrane protein transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy IEA
Inferred from Electronic Annotation
more info
 
cell death TAS
Traceable Author Statement
more info
PubMed 
cellular response to unfolded protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to Gram-negative bacterium IMP
Inferred from Mutant Phenotype
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
negative regulation of I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of receptor recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagy IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of xenophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
autophagosome IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
recycling endosome membrane TAS
Traceable Author Statement
more info
 
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)

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
    5001..43195
    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
    Related
    ENSP00000368022.3, OTTHUMP00000019125, ENST00000378748.7, OTTHUMT00000046834
    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_001008212.1NP_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, BC032762, BI552635
    Consensus CDS
    CCDS7094.1
    UniProtKB/Swiss-Prot
    Q96CV9
    Related
    ENSP00000368021.3, OTTHUMP00000019128, ENST00000378747.7, OTTHUMT00000046837
    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
    Related
    ENSP00000368027.3, OTTHUMP00000019124, ENST00000378752.7, OTTHUMT00000046833
    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
    Related
    ENSP00000368032.2, OTTHUMP00000019127, ENST00000378757.6, OTTHUMT00000046836
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    13100082..13138276
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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