OPA3 outer mitochondrial membrane lipid metabolism regulator OPA3 [Bos taurus (cattle)] - Gene

Summary

Official Symbol: OPA3provided by VGNC
Official Full Name: outer mitochondrial membrane lipid metabolism regulator OPA3provided by VGNC
Primary source: VGNC:VGNC:32433
See related: BGD:BT17213
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 18

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_09	current	ARS-UCD2.0 (GCF_002263795.3)	18	NC_037345.1 (53118225..53184942, complement)

Chromosome 18 - NC_037345.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037345.1 Chromosome 18 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The present study is the first report of the OPA3 mutation in dilated cardiomyopathy affected cows outside Switzerland.
Title: Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.
the nonsense mutation c.343C>T in the bovine OPA3 gene causes the late-onset dilated cardiomyopathy in Red Holstein cattle.
Title: A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle.

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General gene information

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Gene Ontology Provided by RefSeq

Process	Evidence Code	Pubs
involved_in regulation of lipid metabolic process	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrion	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: optic atrophy 3 protein homolog

Names: OPA3 outer mitochondrial membrane lipid metabolism regulator; mitochondrial optic atrophy 3 protein; 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.

mRNA and Protein(s)

NM_001079605.1 → NP_001073073.1 optic atrophy 3 protein homolog isoform 1

See identical proteins and their annotated locations for NP_001073073.1

Status: PROVISIONAL

Source sequence(s)

BC122701

UniProtKB/Swiss-Prot

Q05B66

Conserved Domains (1) summary

pfam07047
Location:6 → 129

OPA3; Optic atrophy 3 protein (OPA3)
NM_001245934.1 → NP_001232863.1 optic atrophy 3 protein homolog isoform 2

See identical proteins and their annotated locations for NP_001232863.1

Status: PROVISIONAL

Source sequence(s)

HM136903

UniProtKB/TrEMBL

D9IE06

Conserved Domains (2) summary

pfam07047
Location:9 → 126

OPA3; Optic atrophy 3 protein (OPA3)

pfam10805
Location:121 → 165

DUF2730; Protein of unknown function (DUF2730)