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

Gene ID: 100131801, updated on 25-Oct-2020

Summary

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
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

Genomic context

See PET100 in Genome Data Viewer
Location:
19p13.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (7629793..7631956)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7694671..7696510)

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 Purkinje cell protein 2 Neighboring gene syntaxin binding protein 2 Neighboring gene RPS27A pseudogene 19

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Homology

Clone Names

  • FLJ42727

Gene Ontology Provided by GOA

Function Evidence Code Pubs
unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
mitochondrial respiratory chain complex IV assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein PET100 homolog, mitochondrial
Names
PET100 homolog

NCBI Reference Sequences (RefSeq)

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_001171155.2NP_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:259
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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