OPA3

Functionⁱ

May play some role in mitochondrial processes.

GO - Biological processⁱ

mitochondrion morphogenesis Source: Ensembl
neuromuscular process Source: Ensembl
regulation of growth Source: Ensembl
regulation of lipid metabolic process
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
response to stimulus Source: UniProtKB-KW
visual perception
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 15342707

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Sensory transduction, Vision

Biological process

Sensory transduction, Vision

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Optic atrophy 3 protein
Gene namesⁱ	Name:OPA3
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 19

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000125741.4
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:8142 OPA3
MIMⁱ	606580 gene
neXtProtⁱ	NX_Q9H6K4

Keywords - Cellular componentⁱ

Mitochondrion

Pathology & Biotechⁱ

Involvement in diseaseⁱ

3-methylglutaconic aciduria 3 (MGA3)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. MGA3 can be distinguished from MGA1 by the absence of increase of 3-hydroxyisovaleric acid levels.

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.

Keywords - Diseaseⁱ

Cataract, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	80207
GeneReviewsⁱ	OPA3
MalaCards human disease database More...MalaCardsⁱ	OPA3
MIMⁱ	165300 phenotype 258501 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000125741
Orphanetⁱ	67047 3-methylglutaconic aciduria type 3 67036 Autosomal dominant optic atrophy and cataract
PharmGKBⁱ	PA31929

Polymorphism and mutation databases

BioMutaⁱ	OPA3
DMDMⁱ	20139177

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Initiator methionineⁱ		RemovedCombined sources
ChainⁱPRO_0000220763	2 – 179	Optic atrophy 3 proteinAdd BLAST		178

Proteomic databases

EPDⁱ	Q9H6K4
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q9H6K4
PeptideAtlas More...PeptideAtlasⁱ	Q9H6K4
PRIDEⁱ	Q9H6K4
ProteomicsDBⁱ	80995 80996 [Q9H6K4-2]
TopDownProteomicsⁱ	Q9H6K4-1 [Q9H6K4-1]

PTM databases

iPTMnetⁱ	Q9H6K4
PhosphoSitePlusⁱ	Q9H6K4

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000125741 Expressed in 166 organ(s), highest expression level in amniotic fluid
CleanExⁱ	HS_OPA3
ExpressionAtlasⁱ	Q9H6K4 baseline and differential
Genevisibleⁱ	Q9H6K4 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA044881

HPAⁱ

HPA044881

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	123176, 35 interactors
IntActⁱ	Q9H6K4, 47 interactors
Molecular INTeraction database More...MINTⁱ	Q9H6K4

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9H6K4
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Coiled coil

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Coiled coilⁱ	103 – 163	Sequence analysisAdd BLAST		61

Sequence similaritiesⁱ

Belongs to the OPA3 family.Curated

Keywords - Domainⁱ

Coiled coil

Phylogenomic databases

Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000009795
HOGENOMⁱ	HOG000007385
HOVERGENⁱ	HBG019109
InParanoidⁱ	Q9H6K4
OMAⁱ	HWIEMRT
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0W1R
PhylomeDBⁱ	Q9H6K4
TreeFamⁱ	TF314653

Family and domain databases

InterProⁱ	View protein in InterPro IPR010754 OPA3-like
PANTHERⁱ	PTHR12499 PTHR12499, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF07047 OPA3, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add 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 all Align All

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

This isoform has been chosen as the 'canonical' 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

Checksum:ⁱ2FB48F84B24E5AE8

GO

Isoform 2 (identifier: Q9H6K4-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH 
        60         70         80         90        100
WLEMRTKMRI MGFNAAAIKP LNEGAAAELG AELLGEGIIF ITACSCLMLE 
       110        120        130        140        150
YWRHQLQQRR KEKERRVARE ALRGEVGHLG LALEELQAQV QATSTQLALE 
       160        170        180
ELRAQLQEVR AHLCLRDPPP APPVAPASEK

Show »

Length:180

Mass (Da):20,255

Checksum:ⁱ3D244FE24B3D8DBA

GO

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	B4DK77	B4DK77_HUMAN		cDNA FLJ57883, highly similar to Op... cDNA FLJ57883, highly similar to Optic atrophy 3 protein	OPA3	126	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Isoform 2 (identifier: Q9H6K4-2)
Sequence conflictⁱ	130	G → E in BAC05415 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_033103	93	G → S in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356524EnsemblClinVar.		1
Natural variantⁱVAR_033104	105	Q → E in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356525EnsemblClinVar.		1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_032681	52 – 179	VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2. 2 PublicationsAdd BLAST		128

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
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]
UniGeneⁱ	Hs.466945 Hs.723713

Genome annotation databases

Ensemblⁱ	ENST00000263275; ENSP00000263275; ENSG00000125741 [Q9H6K4-1] ENST00000323060; ENSP00000319817; ENSG00000125741 [Q9H6K4-2]
GeneIDⁱ	80207
KEGGⁱ	hsa:80207
UCSC genome browser More...UCSCⁱ	uc002pcj.5 human [Q9H6K4-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9H6K4	cDNA FLJ57883, highly similar to Optic atrophy 3 protein		HUMAN		126	UniRef100_Q9H6K4
Q9H6K4-2	OPA3 isoform 1		PANTR		180	UniRef100_G2HH43
Uncharacterized protein		PANPA		180
OPA3, outer mitochondrial membrane lipid metabolism regulator		GORGO		180

Protein	Similar proteins		Species	Score	Length	Source
Q9H6K4	cDNA FLJ57883, highly similar to Optic atrophy 3 protein		HUMAN		126	UniRef90_Q9H6K4
Optic atrophy 3 protein isoform b		CALJA		180
Optic atrophy 3 protein isoform b		MACMU		179
Uncharacterized protein		CERAT		179
Uncharacterized protein		PAPAN		179
+19
Q9H6K4-2	OPA3 isoform 1		PANTR		180	UniRef90_G2HH43
Uncharacterized protein		PANPA		180
OPA3, outer mitochondrial membrane lipid metabolism regulator		GORGO		180
OPA3, outer mitochondrial membrane lipid metabolism regulator		SAIBB		181
Optic atrophy 3 protein isoform a		CALJA		180
+6

Protein	Similar proteins		Species	Score	Length	Source
Q9H6K4	Optic atrophy 3 protein homolog		BOVIN		191	UniRef50_Q9H6K4
cDNA FLJ57883, highly similar to Optic atrophy 3 protein		HUMAN		126
Optic atrophy 3 protein isoform b		CALJA		180
Uncharacterized protein		AOTNA		179
OPA3 isoform 2		PANTR		179
+52
Q9H6K4-2	Uncharacterized protein		NOMLE		180	UniRef50_G1QP14
Uncharacterized protein		MACMU		180
OPA3, outer mitochondrial membrane lipid metabolism regulator		MACFA		180
Uncharacterized protein		MANLE		180
Uncharacterized protein		CERAT		180
+48

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
CCDSⁱ	CCDS12668.1 [Q9H6K4-1] CCDS33052.1 [Q9H6K4-2]
RefSeqⁱ	NP_001017989.2, NM_001017989.2 [Q9H6K4-2] NP_079412.1, NM_025136.3 [Q9H6K4-1]
UniGeneⁱ	Hs.466945 Hs.723713

3D structure databases

ProteinModelPortalⁱ	Q9H6K4
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	123176, 35 interactors
IntActⁱ	Q9H6K4, 47 interactors
MINTⁱ	Q9H6K4

PTM databases

iPTMnetⁱ	Q9H6K4
PhosphoSitePlusⁱ	Q9H6K4

Polymorphism and mutation databases

BioMutaⁱ	OPA3
DMDMⁱ	20139177

Proteomic databases

EPDⁱ	Q9H6K4
MaxQBⁱ	Q9H6K4
PeptideAtlasⁱ	Q9H6K4
PRIDEⁱ	Q9H6K4
ProteomicsDBⁱ	80995 80996 [Q9H6K4-2]
TopDownProteomicsⁱ	Q9H6K4-1 [Q9H6K4-1]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	80207
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000263275; ENSP00000263275; ENSG00000125741 [Q9H6K4-1] ENST00000323060; ENSP00000319817; ENSG00000125741 [Q9H6K4-2]
GeneIDⁱ	80207
KEGGⁱ	hsa:80207
UCSCⁱ	uc002pcj.5 human [Q9H6K4-1]

Organism-specific databases

CTDⁱ	80207
DisGeNETⁱ	80207
EuPathDBⁱ	HostDB:ENSG00000125741.4
GeneCardsⁱ	OPA3
GeneReviewsⁱ	OPA3
H-InvDBⁱ	HIX0174489
HGNCⁱ	HGNC:8142 OPA3
HPAⁱ	HPA044881
MalaCardsⁱ	OPA3
MIMⁱ	165300 phenotype 258501 phenotype 606580 gene
neXtProtⁱ	NX_Q9H6K4
OpenTargetsⁱ	ENSG00000125741
Orphanetⁱ	67047 3-methylglutaconic aciduria type 3 67036 Autosomal dominant optic atrophy and cataract
PharmGKBⁱ	PA31929
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

GeneTreeⁱ	ENSGT00390000009795
HOGENOMⁱ	HOG000007385
HOVERGENⁱ	HBG019109
InParanoidⁱ	Q9H6K4
OMAⁱ	HWIEMRT
OrthoDBⁱ	EOG091G0W1R
PhylomeDBⁱ	Q9H6K4
TreeFamⁱ	TF314653

Miscellaneous databases

ChiTaRSⁱ	OPA3 human
GeneWikiⁱ	OPA3
GenomeRNAiⁱ	80207
Protein Ontology More...PROⁱ	PR:Q9H6K4
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000125741 Expressed in 166 organ(s), highest expression level in amniotic fluid
CleanExⁱ	HS_OPA3
ExpressionAtlasⁱ	Q9H6K4 baseline and differential
Genevisibleⁱ	Q9H6K4 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR010754 OPA3-like
PANTHERⁱ	PTHR12499 PTHR12499, 1 hit
Pfamⁱ	View protein in Pfam PF07047 OPA3, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	OPA3_HUMAN
Accessionⁱ	Q9H6K4Primary (citable) accession number: Q9H6K4 Secondary accession number(s): Q6P384, Q8N784
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
	Last sequence update:	March 1, 2001
	Last modified:	November 7, 2018
	This is version 139 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

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

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UniProtKB - Q9H6K4 (OPA3_HUMAN)

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Optic atrophy 3 protein

Select a section on the left to see content.

<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

<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

<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

Organism-specific databases

<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

Mitochondrion

Mitochondrion

Keywords - Cellular componenti

<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

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<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

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<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

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ