Human Gene PET100 (uc010dvi.2)
  Description: Homo sapiens PET100 homolog (S. cerevisiae) (PET100), transcript variant 1, mRNA.
RefSeq Summary (NM_001171155): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:7,694,671-7,696,510 Size: 1,840 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr19:7,694,720-7,696,442 Size: 1,723 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:7,694,671-7,696,510)mRNA (may differ from genome)Protein (73 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PT100_HUMAN
DESCRIPTION: RecName: Full=Protein PET100 homolog, mitochondrial; Flags: Precursor;
SUBUNIT: Interacts with COX7A2.
SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein (Potential). Mitochondrion (By similarity). Note=Localizes to a membrane-bound organelle.
SIMILARITY: Belongs to the PET100 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PET100
Diseases sorted by gene-association score: mitochondrial complex iv deficiency* (373), leigh syndrome with leukodystrophy* (97), gas gangrene (5), leigh syndrome (2), mitochondrial metabolism disease (1)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.51 RPKM in Spleen
Total median expression: 95.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.7049-0.280 Picture PostScript Text
3' UTR -8.4968-0.125 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018625 - DUF2346

Pfam Domains:
PF09803 - Pet100

ModBase Predicted Comparative 3D Structure on P0DJ07
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
   FlyBase  
   Protein Sequence  
   Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0051082 unfolded protein binding

Biological Process:
GO:0033617 mitochondrial respiratory chain complex IV assembly

Cellular Component:
GO:0005739 mitochondrion
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane


-  Descriptions from all associated GenBank mRNAs
  LP896104 - Sequence 968 from Patent EP3253886.
BC150496 - Homo sapiens cDNA clone IMAGE:40134303.
AK124717 - Homo sapiens cDNA FLJ42727 fis, clone BRAWH2004136.
JD019762 - Sequence 786 from Patent EP1572962.
JD034607 - Sequence 15631 from Patent EP1572962.
LF208010 - JP 2014500723-A/15513: Polycomb-Associated Non-Coding RNAs.
LF370966 - JP 2014500723-A/178469: Polycomb-Associated Non-Coding RNAs.
MA606543 - JP 2018138019-A/178469: Polycomb-Associated Non-Coding RNAs.
MA443587 - JP 2018138019-A/15513: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C19orf79, NM_001171155, NP_001164626, P0DJ07, PT100_HUMAN
UCSC ID: uc010dvi.2
RefSeq Accession: NM_001171155
Protein: P0DJ07 (aka PT100_HUMAN)
CCDS: CCDS54208.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PET100:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome SpectrumOverview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001171155.1
exon count: 4CDS single in 3' UTR: no RNA size: 349
ORF size: 222CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 644.00frame shift in genome: no % Coverage: 97.13
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.