OPA3

Protein identityUniProt · HPA

UniProt accession

Q9H6K4

Gene

OPA3

Ensembl

ENSG00000125741

Chromosome

19

Canonical length

179 aa

Protein class

Disease related genes, Human disease related genes, Predicted membrane proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

179 residues, UniProt reviewed canonical sequence.

>Q9H6K4|OPA3
     1  MVVGAFPMAK LLYLGIRQVS KPLANRIKEA ARRSEFFKTY ICLPPAQLYH WVEMRTKMRI
    61  MGFRGTVIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE YWRHQAQQRH KEEEQRAAWN
   121  ALRDEVGHLA LALEALQAQV QAAPPQGALE ELRTELQEVR AQLCNPGRSA SHAVPASKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against OPA3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.47

Highest tissue expression

12 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about OPA3.

Disease | AllUniProt

Conditions OPA3 is implicated in, by any mechanism.

• 3-methylglutaconic aciduria 3 (MGCA3) MIM:258501
• Optic atrophy 3 (OPA3) MIM:165300

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 633 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• 3-Methylglutaconic aciduria type 3
• Optic atrophy 3

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0.57

gnomAD missense Z

0.05

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bone development
• fat cell differentiation
• mitochondrion organization
• neuromuscular process
• regulation of growth
• regulation of lipid metabolic process
• visual perception

Cellular components

• mitochondrion

Protein domainsUniProt · Pfam · InterPro

• Optic atrophy 3-like
• Optic atrophy 3 protein (OPA3)

KeywordsUniProt

• Cataract
• Coiled coil
• Mitochondrion
• Sensory transduction
• Vision