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

    Gene ID: 100131801, updated on 2-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
    mouse all
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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 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
    		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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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