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Protein

Optic atrophy 3 protein

Gene

OPA3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: UniProtKB

Keywordsi

Biological processSensory transduction, Vision

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

EuPathDBiHostDB:ENSG00000125741.4
HGNCiHGNC:8142 OPA3
MIMi606580 gene
neXtProtiNX_Q9H6K4

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; Source: COMPARTMENTS

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.
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 dbSNP:rs80356524EnsemblClinVar.1
Natural variantiVAR_033104105Q → E in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356525EnsemblClinVar.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi80207
GeneReviewsiOPA3
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
ProteomicsDBi80995
80996 [Q9H6K4-2]
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 Expressed in 166 organ(s), highest expression level in amniotic fluid
CleanExiHS_OPA3
ExpressionAtlasiQ9H6K4 baseline and differential
GenevisibleiQ9H6K4 HS

Organism-specific databases

HPAiHPA044881

Interactioni

Protein-protein interaction databases

BioGridi123176, 35 interactors
IntActiQ9H6K4, 47 interactors
MINTiQ9H6K4

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
OMAiHWIEMRT
OrthoDBiEOG091G0W1R
PhylomeDBiQ9H6K4
TreeFamiTF314653

Family and domain databases

InterProiView protein in InterPro
IPR010754 OPA3-like
PANTHERiPTHR12499 PTHR12499, 1 hit
PfamiView 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. 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 '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

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
cDNA FLJ57883, highly similar to Op...
OPA3
126Annotation score:

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 dbSNP:rs80356524EnsemblClinVar.1
Natural variantiVAR_033104105Q → E in OPA3. 1 PublicationCorresponds to variant dbSNP:rs80356525EnsemblClinVar.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

Similar proteinsi

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, 35 interactors
IntActiQ9H6K4, 47 interactors
MINTiQ9H6K4

PTM databases

iPTMnetiQ9H6K4
PhosphoSitePlusiQ9H6K4

Polymorphism and mutation databases

BioMutaiOPA3
DMDMi20139177

Proteomic databases

EPDiQ9H6K4
MaxQBiQ9H6K4
PeptideAtlasiQ9H6K4
PRIDEiQ9H6K4
ProteomicsDBi80995
80996 [Q9H6K4-2]
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
EuPathDBiHostDB:ENSG00000125741.4
GeneCardsiOPA3
GeneReviewsiOPA3
H-InvDBiHIX0174489
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
OMAiHWIEMRT
OrthoDBiEOG091G0W1R
PhylomeDBiQ9H6K4
TreeFamiTF314653

Miscellaneous databases

ChiTaRSiOPA3 human
GeneWikiiOPA3
GenomeRNAii80207
PROiPR:Q9H6K4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125741 Expressed in 166 organ(s), highest expression level in amniotic fluid
CleanExiHS_OPA3
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
ProtoNetiSearch...

Entry informationi

Entry nameiOPA3_HUMAN
AccessioniPrimary (citable) accession number: Q9H6K4
Secondary accession number(s): Q6P384, Q8N784
Entry historyiIntegrated 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 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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