PET117 PET117 cytochrome c oxidase chaperone [Homo sapiens (human)] - Gene

Summary

Official Symbol: PET117provided by HGNC
Official Full Name: PET117 cytochrome c oxidase chaperoneprovided by HGNC
Primary source: HGNC:HGNC:40045
See related: Ensembl:ENSG00000232838 MIM:614771; AllianceGenome:HGNC:40045
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSRP2BP; MC4DN19
Summary: Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Implicated in mitochondrial complex IV deficiency nuclear type 19. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in duodenum (RPKM 11.7), stomach (RPKM 11.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p11.23

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (18137863..18143169)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (18188733..18194026)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (18118507..18123813)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes.
Title: MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.
case presentation thus implicates mutations in PET117 as a novel cause of mitochondrial disease
Title: Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Ortholog of fungal COX assembly protein PET117
Title: Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.

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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
Mitochondrial complex 4 deficiency, nuclear type 19 MedGen: C5436723 OMIM: 619063 GeneReviews: Not available	Compare labs

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

D20S1140 (e-PCR), detects polymorphism
- UniSTS:42588

STS-N40959 (e-PCR)
- UniSTS:77756

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein PET117 homolog, mitochondrial

Names: PET117 homolog; alternative protein CSRP2BP

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.