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UniProtKB - Q9H6K4 (OPA3_HUMAN)
Protein
Optic atrophy 3 protein
Gene
OPA3
Organism
Homo sapiens (Human)
Status
Functioni
May play some role in mitochondrial processes.
GO - Biological processi
- regulation of lipid metabolic process Source: GO_Central
- response to stimulus Source: UniProtKB-KW
- visual perception Source: UniProtKB
Keywordsi
Biological process | Sensory transduction, Vision |
Enzyme and pathway databases
PathwayCommonsi | Q9H6K4 |
SignaLinki | Q9H6K4 |
Names & Taxonomyi
Protein namesi | Recommended name: Optic atrophy 3 protein |
Gene namesi | Name:OPA3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8142, OPA3 |
MIMi | 606580, gene |
neXtProti | NX_Q9H6K4 |
VEuPathDBi | HostDB:ENSG00000125741 |
Subcellular locationi
Mitochondrion
- Mitochondrion Curated
Mitochondrion
- mitochondrion Source: LIFEdb
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
3-methylglutaconic aciduria 3 (MGCA3)1 Publication
The disease is caused by variants 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 OMIMOptic atrophy 3 (OPA3)1 Publication
The disease is caused by variants 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 OMIMFeature 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 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 80207 |
GeneReviewsi | OPA3 |
MalaCardsi | OPA3 |
MIMi | 165300, phenotype 258501, phenotype |
OpenTargetsi | ENSG00000125741 |
Orphaneti | 67047, 3-methylglutaconic aciduria type 3 67036, Autosomal dominant optic atrophy and cataract |
PharmGKBi | PA31929 |
Miscellaneous databases
Pharosi | Q9H6K4, Tbio |
Genetic variation 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 |
jPOSTi | Q9H6K4 |
MassIVEi | Q9H6K4 |
MaxQBi | Q9H6K4 |
PeptideAtlasi | Q9H6K4 |
PRIDEi | Q9H6K4 |
ProteomicsDBi | 80995 [Q9H6K4-1] 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 amniotic fluid and 184 other tissues |
ExpressionAtlasi | Q9H6K4, baseline and differential |
Genevisiblei | Q9H6K4, HS |
Organism-specific databases
HPAi | ENSG00000125741, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 123176, 46 interactors |
IntActi | Q9H6K4, 89 interactors |
MINTi | Q9H6K4 |
Miscellaneous databases
RNActi | Q9H6K4, protein |
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 coilPhylogenomic databases
GeneTreei | ENSGT00390000009795 |
HOGENOMi | CLU_074707_5_1_1 |
InParanoidi | Q9H6K4 |
OMAi | KTYVCLP |
OrthoDBi | 1444400at2759 |
PhylomeDBi | Q9H6K4 |
TreeFami | TF314653 |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketNote: 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB4DK77 | B4DK77_HUMAN | 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_085736 | 15 | G → R Found in a family with foveal hypoplasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771522612EnsemblClinVar. | 1 | |
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 |
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] |
Genome annotation databases
Ensembli | ENST00000263275.5; ENSP00000263275.4; ENSG00000125741.5 ENST00000323060.3; ENSP00000319817.3; ENSG00000125741.5 [Q9H6K4-2] |
GeneIDi | 80207 |
KEGGi | hsa:80207 |
MANE-Selecti | ENST00000263275.5; ENSP00000263275.4; NM_025136.4; NP_079412.1 |
UCSCi | uc002pcj.5, human [Q9H6K4-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
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] |
3D structure databases
AlphaFoldDBi | Q9H6K4 |
SMRi | Q9H6K4 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 123176, 46 interactors |
IntActi | Q9H6K4, 89 interactors |
MINTi | Q9H6K4 |
PTM databases
iPTMneti | Q9H6K4 |
PhosphoSitePlusi | Q9H6K4 |
Genetic variation databases
BioMutai | OPA3 |
DMDMi | 20139177 |
Proteomic databases
EPDi | Q9H6K4 |
jPOSTi | Q9H6K4 |
MassIVEi | Q9H6K4 |
MaxQBi | Q9H6K4 |
PeptideAtlasi | Q9H6K4 |
PRIDEi | Q9H6K4 |
ProteomicsDBi | 80995 [Q9H6K4-1] 80996 [Q9H6K4-2] |
TopDownProteomicsi | Q9H6K4-1 [Q9H6K4-1] |
Protocols and materials databases
Antibodypediai | 31359, 196 antibodies from 25 providers |
DNASUi | 80207 |
Genome annotation databases
Ensembli | ENST00000263275.5; ENSP00000263275.4; ENSG00000125741.5 ENST00000323060.3; ENSP00000319817.3; ENSG00000125741.5 [Q9H6K4-2] |
GeneIDi | 80207 |
KEGGi | hsa:80207 |
MANE-Selecti | ENST00000263275.5; ENSP00000263275.4; NM_025136.4; NP_079412.1 |
UCSCi | uc002pcj.5, human [Q9H6K4-1] |
Organism-specific databases
CTDi | 80207 |
DisGeNETi | 80207 |
GeneCardsi | OPA3 |
GeneReviewsi | OPA3 |
HGNCi | HGNC:8142, OPA3 |
HPAi | ENSG00000125741, Low tissue specificity |
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 |
VEuPathDBi | HostDB:ENSG00000125741 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00390000009795 |
HOGENOMi | CLU_074707_5_1_1 |
InParanoidi | Q9H6K4 |
OMAi | KTYVCLP |
OrthoDBi | 1444400at2759 |
PhylomeDBi | Q9H6K4 |
TreeFami | TF314653 |
Enzyme and pathway databases
PathwayCommonsi | Q9H6K4 |
SignaLinki | Q9H6K4 |
Miscellaneous databases
BioGRID-ORCSi | 80207, 15 hits in 1073 CRISPR screens |
ChiTaRSi | OPA3, human |
GeneWikii | OPA3 |
GenomeRNAii | 80207 |
Pharosi | Q9H6K4, Tbio |
PROi | PR:Q9H6K4 |
RNActi | Q9H6K4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000125741, Expressed in amniotic fluid and 184 other tissues |
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 |
MobiDBi | 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: | May 25, 2022 | |
This is version 158 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
Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families