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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-Experimental evidence at protein leveli

Functioni

May play some role in mitochondrial processes.

GO - Biological processi

  • growth Source: Ensembl
  • mitochondrion morphogenesis Source: Ensembl
  • neuromuscular process Source: Ensembl
  • regulation of lipid metabolic process Source: GO_Central
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125741-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Optic atrophy 3 protein
Gene namesi
Name:OPA3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:8142. OPA3.

Subcellular locationi

GO - Cellular componenti

  • mitochondrion Source: UniProtKB
Complete GO annotation...

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 descriptionA 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.
See also OMIM:258501
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.
See also OMIM:165300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03310393G → S in OPA3. 1 PublicationCorresponds to variant rs80356524dbSNPEnsembl.1
Natural variantiVAR_033104105Q → E in OPA3. 1 PublicationCorresponds to variant rs80356525dbSNPEnsembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi80207.
MalaCardsiOPA3.
MIMi165300. phenotype.
258501. phenotype.
OpenTargetsiENSG00000125741.
Orphaneti67047. 3-methylglutaconic aciduria type 3.
67036. Autosomal dominant optic atrophy and cataract.
PharmGKBiPA31929.

Polymorphism and mutation databases

BioMutaiOPA3.
DMDMi20139177.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002207632 – 179Optic atrophy 3 proteinAdd BLAST178

Proteomic databases

EPDiQ9H6K4.
MaxQBiQ9H6K4.
PeptideAtlasiQ9H6K4.
PRIDEiQ9H6K4.
TopDownProteomicsiQ9H6K4-1. [Q9H6K4-1]

PTM databases

iPTMnetiQ9H6K4.
PhosphoSitePlusiQ9H6K4.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000125741.
CleanExiHS_OPA3.
ExpressionAtlasiQ9H6K4. baseline and differential.
GenevisibleiQ9H6K4. HS.

Organism-specific databases

HPAiHPA044881.

Interactioni

Protein-protein interaction databases

BioGridi123176. 30 interactors.
IntActiQ9H6K4. 3 interactors.
MINTiMINT-8417711.

Structurei

3D structure databases

ProteinModelPortaliQ9H6K4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili103 – 163Sequence analysisAdd BLAST61

Sequence similaritiesi

Belongs to the OPA3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

GeneTreeiENSGT00390000009795.
HOGENOMiHOG000007385.
HOVERGENiHBG019109.
InParanoidiQ9H6K4.
OMAiTFCKPIA.
OrthoDBiEOG091G0W1R.
PhylomeDBiQ9H6K4.
TreeFamiTF314653.

Family and domain databases

InterProiIPR010754. OPA3-like.
[Graphical view]
PANTHERiPTHR12499. PTHR12499. 1 hit.
PfamiPF07047. OPA3. 1 hit.
[Graphical view]

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. AlignAdd to basket

Note: The two isoforms share the first coding exon and than differ due to a duplicated alternative second coding exon.
Isoform 1 (identifier: Q9H6K4-1) [UniParc]FASTAAdd 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]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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q9H6K4-2)
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 rs80356524dbSNPEnsembl.1
Natural variantiVAR_033104105Q → E in OPA3. 1 PublicationCorresponds to variant rs80356525dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03268152 – 179VEMRT…PASKK → LEMRTKMRIMGFNAAAIKPL NEGAAAELGAELLGEGIIFI TACSCLMLEYWRHQLQQRRK EKERRVAREALRGEVGHLGL ALEELQAQVQATSTQLALEE LRAQLQEVRAHLCLRDPPPA PPVAPASEK in isoform 2. 2 PublicationsAdd BLAST128

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]
UniGeneiHs.466945.
Hs.723713.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

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]
UniGeneiHs.466945.
Hs.723713.

3D structure databases

ProteinModelPortaliQ9H6K4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123176. 30 interactors.
IntActiQ9H6K4. 3 interactors.
MINTiMINT-8417711.

PTM databases

iPTMnetiQ9H6K4.
PhosphoSitePlusiQ9H6K4.

Polymorphism and mutation databases

BioMutaiOPA3.
DMDMi20139177.

Proteomic databases

EPDiQ9H6K4.
MaxQBiQ9H6K4.
PeptideAtlasiQ9H6K4.
PRIDEiQ9H6K4.
TopDownProteomicsiQ9H6K4-1. [Q9H6K4-1]

Protocols and materials databases

DNASUi80207.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80207.
DisGeNETi80207.
GeneCardsiOPA3.
GeneReviewsiOPA3.
H-InvDBHIX0174489.
HGNCiHGNC:8142. OPA3.
HPAiHPA044881.
MalaCardsiOPA3.
MIMi165300. phenotype.
258501. phenotype.
606580. gene.
neXtProtiNX_Q9H6K4.
OpenTargetsiENSG00000125741.
Orphaneti67047. 3-methylglutaconic aciduria type 3.
67036. Autosomal dominant optic atrophy and cataract.
PharmGKBiPA31929.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000009795.
HOGENOMiHOG000007385.
HOVERGENiHBG019109.
InParanoidiQ9H6K4.
OMAiTFCKPIA.
OrthoDBiEOG091G0W1R.
PhylomeDBiQ9H6K4.
TreeFamiTF314653.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000125741-MONOMER.

Miscellaneous databases

ChiTaRSiOPA3. human.
GeneWikiiOPA3.
GenomeRNAii80207.
PROiQ9H6K4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125741.
CleanExiHS_OPA3.
ExpressionAtlasiQ9H6K4. baseline and differential.
GenevisibleiQ9H6K4. HS.

Family and domain databases

InterProiIPR010754. OPA3-like.
[Graphical view]
PANTHERiPTHR12499. PTHR12499. 1 hit.
PfamiPF07047. OPA3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiOPA3_HUMAN
AccessioniPrimary (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 2, 2016
This is version 126 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.