Cell atlas - OPA3 - The Human Protein Atlas

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OPA3

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Cytosol
	Nucleoplasm

Human cell
	Cytosol
	Nucleoplasm

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GENERAL INFORMATION
Gene name	OPA3
Gene description	Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Protein class	Disease related genes Predicted membrane proteins
Predicted localization	Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Mainly localized to the cytosol. In addition localized to the nucleoplasm.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Cytosol (approved)
Additional location	In addition localized to the Nucleoplasm (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA044881
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Mainly localized to the cytosol. In addition localized to the nucleoplasm.

Main location

Cytosol (approved)

Additional location

Nucleoplasm (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA044881	A-431	Nucleoplasm
	HPA044881	A-431	Cytosol
	HPA044881	U-2 OS	Cytosol
	HPA044881	U-251 MG	Nucleoplasm
	HPA044881	U-251 MG	Cytosol

GENE INFORMATION
Gene name	OPA3 (HGNC Symbol)
Synonyms	FLJ22187, MGA3
Description	Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (HGNC Symbol)
Entrez gene summary	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]
Chromosome	19
Cytoband	q13.32
Chromosome location (bp)	45527427 - 45602212
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000125741 (version 83.38)
Entrez gene	80207
UniProt	Q9H6K4 (UniProt - Evidence at protein level)
neXtProt	NX_Q9H6K4
Antibodypedia	OPA3 antibodies

PROTEIN BROWSER

OPA3-001	OPA3-002	OPA3-003

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
OPA3-001 ENSP00000319817 ENST00000323060	Q9H6K4 [Direct mapping] Optic atrophy 3 protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0007601 [visual perception] GO:0019216 [regulation of lipid metabolic process] GO:0040007 [growth] GO:0050896 [response to stimulus] GO:0050905 [neuromuscular process] GO:0070584 [mitochondrion morphogenesis] Show all	180 aa 20.3 kDa	No	2
OPA3-002 ENSP00000263275 ENST00000263275	Q9H6K4 [Direct mapping] Optic atrophy 3 protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0007601 [visual perception] GO:0019216 [regulation of lipid metabolic process] GO:0050896 [response to stimulus] Show all	179 aa 20 kDa	No	1
OPA3-003 ENSP00000442839 ENST00000544371	B4DK77 [Direct mapping] Optic atrophy 3 protein; cDNA FLJ57883, highly similar to Optic atrophy 3 protein Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all		126 aa 13.9 kDa	No	1

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.