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UniProtKB - Q9H6K4 (OPA3_HUMAN)

Entry version 151 (07 Oct 2020)
Sequence version 1 (01 Mar 2001)
Previous versions | rss
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Protein

Optic atrophy 3 protein

Gene

OPA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

May play some role in mitochondrial processes.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Vision

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H6K4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Optic atrophy 3 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OPA3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000125741.4

Human Gene Nomenclature Database

More...HGNCi		HGNC:8142, OPA3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606580, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H6K4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

3-methylglutaconic aciduria 3 (MGCA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels.
Related information in OMIM
Optic atrophy 3 (OPA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03310393G → S in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356524EnsemblClinVar.1
Natural variantiVAR_033104105Q → E in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356525EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		80207

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		OPA3

MalaCards human disease database

More...MalaCardsi		OPA3
MIMi165300, phenotype
258501, phenotype

Open Targets

More...OpenTargetsi		ENSG00000125741

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		67047, 3-methylglutaconic aciduria type 3
67036, Autosomal dominant optic atrophy and cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31929

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H6K4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		OPA3

Domain mapping of disease mutations (DMDM)

More...DMDMi		20139177

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002207632 – 179Optic atrophy 3 proteinAdd BLAST178

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H6K4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H6K4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H6K4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H6K4

PeptideAtlas

More...PeptideAtlasi		Q9H6K4

PRoteomics IDEntifications database

More...PRIDEi		Q9H6K4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80995 [Q9H6K4-1]
80996 [Q9H6K4-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q9H6K4-1 [Q9H6K4-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H6K4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9H6K4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Most prominent expression in skeletal muscle and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000125741, Expressed in amniotic fluid and 183 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H6K4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H6K4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000125741, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123176, 36 interactors

Protein interaction database and analysis system

More...IntActi		Q9H6K4, 86 interactors

Molecular INTeraction database

More...MINTi		Q9H6K4

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H6K4, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili103 – 163Sequence analysisAdd BLAST61

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the OPA3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

Ensembl GeneTree

More...GeneTreei		ENSGT00390000009795

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_074707_5_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H6K4

KEGG Orthology (KO)

More...KOi		K23166

Identification of Orthologs from Complete Genome Data

More...OMAi		TETLDAQ

Database of Orthologous Groups

More...OrthoDBi		1444400at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H6K4

TreeFam database of animal gene trees

More...TreeFami		TF314653

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010754, OPA3-like

The PANTHER Classification System

More...PANTHERi		PTHR12499, PTHR12499, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF07047, OPA3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: The two isoforms share the first coding exon and than differ due to a duplicated alternative second coding exon.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H6K4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH 
        60         70         80         90        100
WVEMRTKMRI MGFRGTVIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE 
       110        120        130        140        150
YWRHQAQQRH KEEEQRAAWN ALRDEVGHLA LALEALQAQV QAAPPQGALE 
       160        170 
ELRTELQEVR AQLCNPGRSA SHAVPASKK
Length:179
Mass (Da):19,996
Last modified:March 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2FB48F84B24E5AE8
GO
Isoform 2 (identifier: Q9H6K4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-179: VEMRTKMRIM...ASHAVPASKK → LEMRTKMRIM...APPVAPASEK

Show »
Length:180
Mass (Da):20,255
Checksum:i3D244FE24B3D8DBA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DK77B4DK77_HUMAN
Optic atrophy 3 protein
OPA3
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q9H6K4-2)
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti130G → E in BAC05415 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03310393G → S in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356524EnsemblClinVar.1
Natural variantiVAR_033104105Q → E in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356525EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03268152 – 179VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2. 2 PublicationsAdd BLAST128

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK025840 mRNA Translation: BAB15255.1
AK098798 mRNA Translation: BAC05415.1
BC005059 mRNA Translation: AAH05059.1
BC047316 mRNA Translation: AAH47316.1
BC064146 mRNA Translation: AAH64146.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12668.1 [Q9H6K4-1]
CCDS33052.1 [Q9H6K4-2]

NCBI Reference Sequences

More...RefSeqi		NP_001017989.2, NM_001017989.2 [Q9H6K4-2]
NP_079412.1, NM_025136.3 [Q9H6K4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263275; ENSP00000263275; ENSG00000125741 [Q9H6K4-1]
ENST00000323060; ENSP00000319817; ENSG00000125741 [Q9H6K4-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80207

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80207

UCSC genome browser

More...UCSCi		uc002pcj.5, human [Q9H6K4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025840 mRNA Translation: BAB15255.1
AK098798 mRNA Translation: BAC05415.1
BC005059 mRNA Translation: AAH05059.1
BC047316 mRNA Translation: AAH47316.1
BC064146 mRNA Translation: AAH64146.1
CCDSiCCDS12668.1 [Q9H6K4-1]
CCDS33052.1 [Q9H6K4-2]
RefSeqiNP_001017989.2, NM_001017989.2 [Q9H6K4-2]
NP_079412.1, NM_025136.3 [Q9H6K4-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi123176, 36 interactors
IntActiQ9H6K4, 86 interactors
MINTiQ9H6K4

PTM databases

iPTMnetiQ9H6K4
PhosphoSitePlusiQ9H6K4

Polymorphism and mutation databases

BioMutaiOPA3
DMDMi20139177

Proteomic databases

EPDiQ9H6K4
jPOSTiQ9H6K4
MassIVEiQ9H6K4
MaxQBiQ9H6K4
PeptideAtlasiQ9H6K4
PRIDEiQ9H6K4
ProteomicsDBi80995 [Q9H6K4-1]
80996 [Q9H6K4-2]
TopDownProteomicsiQ9H6K4-1 [Q9H6K4-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31359, 185 antibodies

The DNASU plasmid repository

More...DNASUi		80207

Genome annotation databases

EnsembliENST00000263275; ENSP00000263275; ENSG00000125741 [Q9H6K4-1]
ENST00000323060; ENSP00000319817; ENSG00000125741 [Q9H6K4-2]
GeneIDi80207
KEGGihsa:80207
UCSCiuc002pcj.5, human [Q9H6K4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80207
DisGeNETi80207
EuPathDBiHostDB:ENSG00000125741.4

GeneCards: human genes, protein and diseases

More...GeneCardsi		OPA3
GeneReviewsiOPA3
HGNCiHGNC:8142, OPA3
HPAiENSG00000125741, Low tissue specificity
MalaCardsiOPA3
MIMi165300, phenotype
258501, phenotype
606580, gene
neXtProtiNX_Q9H6K4
OpenTargetsiENSG00000125741
Orphaneti67047, 3-methylglutaconic aciduria type 3
67036, Autosomal dominant optic atrophy and cataract
PharmGKBiPA31929

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

GeneTreeiENSGT00390000009795
HOGENOMiCLU_074707_5_1_1
InParanoidiQ9H6K4
KOiK23166
OMAiTETLDAQ
OrthoDBi1444400at2759
PhylomeDBiQ9H6K4
TreeFamiTF314653

Enzyme and pathway databases

PathwayCommonsiQ9H6K4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80207, 7 hits in 867 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		OPA3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		OPA3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		80207
PharosiQ9H6K4, Tbio

Protein Ontology

More...PROi		PR:Q9H6K4
RNActiQ9H6K4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000125741, Expressed in amniotic fluid and 183 other tissues
ExpressionAtlasiQ9H6K4, baseline and differential
GenevisibleiQ9H6K4, HS

Family and domain databases

InterProiView protein in InterPro
IPR010754, OPA3-like
PANTHERiPTHR12499, PTHR12499, 1 hit
PfamiView protein in Pfam
PF07047, OPA3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOPA3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H6K4
Secondary accession number(s): Q6P384, Q8N784
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 1, 2001
Last modified: October 7, 2020
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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