OPTN optineurin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Optineurin provides a mitophagy contact site for TBK1 activation.
Title: Optineurin provides a mitophagy contact site for TBK1 activation.
Roles and mechanisms of optineurin in bone metabolism.
Title: Roles and mechanisms of optineurin in bone metabolism.
[Optineurin and mitochondrial dysfunction in neurodegeneration].
Title: [Optineurin and mitochondrial dysfunction in neurodegeneration].
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.
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.
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.
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.
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.
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

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis MedGen: C0002736 GeneReviews: Amyotrophic Lateral Sclerosis Overview	not available
Amyotrophic lateral sclerosis type 12 MedGen: C3150692 OMIM: 613435 GeneReviews: Amyotrophic Lateral Sclerosis Overview	not available
Glaucoma, normal tension, susceptibility to MedGen: C1847730 OMIM: 606657 GeneReviews: Not available	not available
Primary open angle glaucoma MedGen: C0339573 OMIM: 137760 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11306 (e-PCR)
- UniSTS:40704

D10S1295E (e-PCR)
- UniSTS:151328

172 (e-PCR), detects polymorphism
- UniSTS:61731

RH70007 (e-PCR)
- UniSTS:13124

SHGC-63482 (e-PCR)
- UniSTS:95400

SHGC-133063 (e-PCR)
- UniSTS:182198

A006T03 (e-PCR)
- UniSTS:5831

D10S1275E (e-PCR)
- UniSTS:52478

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 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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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

NG_012876.1 RefSeqGene

Range

5082..43227

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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