OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OPA3provided by HGNC
Official Full Name: outer mitochondrial membrane lipid metabolism regulator OPA3provided by HGNC
Primary source: HGNC:HGNC:8142
See related: Ensembl:ENSG00000125741 MIM:606580; AllianceGenome:HGNC:8142
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MGA3
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]
Expression: Ubiquitous expression in kidney (RPKM 3.0), heart (RPKM 2.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45527427..45584802, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48354701..48412074, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (46030685..46088060, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homozygous OPA3 mutation is associated with 3-methylglutaconic aciduria type III and optic atrophy.
Title: Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy.
Low OPA3 expression is associated with squamous cell carcinoma in Paranasal Sinus Neoplasms.
Title: Putative biomarkers of malignant transformation of sinonasal inverted papilloma into squamous cell carcinoma.
Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy.
Title: Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.
Report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of ADOA patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant.
Title: A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia.
Title: A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
OPA1 mutations are the most common genetic defects identified in patients with suspected Autosomal-dominant optic atrophy (DOA), whereas OPA3 mutations are very rare in isolated optic atrophy cases.
Title: Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Observational study of genetic testing. (HuGE Navigator)
Title: Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
OPA3, as an integral mitochondrial outer membane perotein, has a crucial role in mitochondrial fission, and provides a direct link between mitochondrial morphology and optic atrophy.
Title: Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.
findings thus place the cellular metabolic defect of 3-methylglutaconic aciduria type III in the mitochondrion rather than the peroxisome and implicate loss of OPA3A rather than gain of OPA3B in disease etiology.
Title: OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
The mouse ortholog of OPA3 purifies with mitochondrial inner membranes.
Title: Proteomic analysis of the mouse liver mitochondrial inner membrane.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
3-Methylglutaconic aciduria type 3 MedGen: C0574084 OMIM: 258501 GeneReviews: Costeff Syndrome	Compare labs
Optic atrophy 3 MedGen: C1833809 OMIM: 165300 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of comorbid depressive syndrome and alcohol dependence. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

D10S275 (e-PCR)
- UniSTS:147992

D11S2560 (e-PCR)
- UniSTS:37928

L17705 (e-PCR)
- UniSTS:66091

OPA3__6115 (e-PCR)
- UniSTS:463663

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D8S2282 (e-PCR)
- UniSTS:473910

G59376 (e-PCR)
- UniSTS:136541

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

RH36905 (e-PCR)
- UniSTS:87932

GDB:315973 (e-PCR)
- UniSTS:156556

D11S3114 (e-PCR)
- UniSTS:152207

RH66765 (e-PCR)
- UniSTS:49040

D16S325 (e-PCR)
- UniSTS:147089

L17971 (e-PCR)
- UniSTS:43966

STS-T76997 (e-PCR)
- UniSTS:57556

GDB:631802 (e-PCR)
- UniSTS:158429

D3S1673 (e-PCR)
- UniSTS:148450

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in regulation of lipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: optic atrophy 3 protein

Names: 3-methylglutaconic aciduria type III; OPA3 outer mitochondrial membrane lipid metabolism regulator; Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'); optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013332.1 RefSeqGene

Range

5063..43584

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001017989.3 → NP_001017989.2 optic atrophy 3 protein isoform a

See identical proteins and their annotated locations for NP_001017989.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate splice site resulting in a distinct 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (a) has a longer and distinct C-terminus, compared to isoform b.

Source sequence(s)

AC006117, BC047316, DB034102

Consensus CDS

CCDS33052.1

UniProtKB/Swiss-Prot

Q9H6K4

Related

ENSP00000319817.3, ENST00000323060.4

Conserved Domains (1) summary

pfam07047
Location:6 → 129

OPA3; Optic atrophy 3 protein (OPA3)
NM_025136.4 → NP_079412.1 optic atrophy 3 protein isoform b

See identical proteins and their annotated locations for NP_079412.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript but encodes the shorter isoform (b).

Source sequence(s)

AC006261, BC005059, BU617706, DB034102

Consensus CDS

CCDS12668.1

UniProtKB/Swiss-Prot

Q6P384, Q8N784, Q9H6K4

Related

ENSP00000263275.4, ENST00000263275.5

Conserved Domains (1) summary

pfam07047
Location:6 → 126

OPA3; Optic atrophy 3 protein (OPA3)