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PET100 PET100 cytochrome c oxidase chaperone [ Homo sapiens (human) ]

Gene ID: 100131801, updated on 27-Nov-2024

Summary

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Official Symbol
PET100provided by HGNC
Official Full Name
PET100 cytochrome c oxidase chaperoneprovided by HGNC
Primary source
HGNC:HGNC:40038
See related
Ensembl:ENSG00000229833 MIM:614770; AllianceGenome:HGNC:40038
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
MC4DN12; C19orf79
Summary
Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in kidney (RPKM 40.1), colon (RPKM 37.0) and 25 other tissues See more
Orthologs
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Genomic context

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See PET100 in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7629793..7631956)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7630676..7632839)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7694679..7696842)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene calmodulin regulated spectrin associated protein family member 3 Neighboring gene microRNA 6792 Neighboring gene XPA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13889 Neighboring gene syntaxin binding protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7701542-7702069 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7702070-7702598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7702599-7703125 Neighboring gene Purkinje cell protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13891 Neighboring gene RPS27A pseudogene 19 Neighboring gene resistin

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Lim SC, et al. Am J Hum Genet, 2014 Feb 6. PMID 24462369, Free PMC Article
  2. MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. Vidoni S, et al. Cell Rep, 2017 Feb 14. PMID 28199844
  3. 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. Szklarczyk R, et al. Genome Biol, 2012 Feb 22. PMID 22356826, Free PMC Article
  4. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview. Adam MP, et al. , 1993. PMID 26425749
  5. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. We identify PET100 as a complex IV biogenesis factor in humans and characterize its location and role in mitochondria.We found PET100 (MIM 614770) mutations in ten Lebanese individuals with Leigh syndrome and isolated complex IV deficiency.
    Title: A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
  3. Protein identified in mammalian mitochondria
    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.
  4. COX assembly candidate, ortholog of fungal PET100
    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.
Submit: New GeneRIF Correction

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 12
MedGen: C5436695 OMIM: 619055 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42727

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in mitochondrial cytochrome c oxidase assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
protein PET100 homolog, mitochondrial
Names
PET100 homolog

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

  1. NG_034117.1 RefSeqGene

    Range
    5009..7172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001171155.2 → NP_001164626.1  protein PET100 homolog, mitochondrial

    See identical proteins and their annotated locations for NP_001164626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.
    Source sequence(s)
    AC008763, BU740873, CD641681
    Consensus CDS
    CCDS54208.1
    UniProtKB/Swiss-Prot
    P0DJ07
    Related
    ENSP00000470539.1, ENST00000594797.6
    Conserved Domains (1) summary
    pfam09803
    Location:2 → 59
    Pet100

RNA

  1. NR_033242.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC008763, BU740873, CB119056, CD641681

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    7629793..7631956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    7630676..7632839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P0DJ07.1 GenPept UniProtKB/Swiss-Prot:P0DJ07

Gene LinkOut

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