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Aliases for PET100 Gene

Aliases for PET100 Gene

  • PET100 Homolog 2 3
  • C19orf79 3 4
  • Chromosome 19 Open Reading Frame 79 2
  • PET100 Homolog (S. Cerevisiae) 2

External Ids for PET100 Gene

Previous HGNC Symbols for PET100 Gene

  • C19orf79

Previous GeneCards Identifiers for PET100 Gene

  • GC19P007702
  • GC19P007713
  • GC19P007719
  • GC19P007724

Summaries for PET100 Gene

Entrez Gene Summary for PET100 Gene

  • 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]

GeneCards Summary for PET100 Gene

PET100 (PET100 Homolog) is a Protein Coding gene. Diseases associated with PET100 include mitochondrial complex iv deficiency and leigh syndrome with leukodystrophy.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PET100 Gene

Genomics for PET100 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PET100 Gene

Chromosome:
19
Start:
7,629,737 bp from pter
End:
7,631,956 bp from pter
Size:
2,220 bases
Orientation:
Plus strand

Genomic View for PET100 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PET100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PET100 Gene

No data available for Regulatory Elements for PET100 Gene

Proteins for PET100 Gene

  • Protein details for PET100 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DJ07-PT100_HUMAN
    Recommended name:
    Protein PET100 homolog, mitochondrial
    Protein Accession:
    P0DJ07

    Protein attributes for PET100 Gene

    Size:
    73 amino acids
    Molecular mass:
    9114 Da
    Quaternary structure:
    • Interacts with COX7A2.

neXtProt entry for PET100 Gene

Proteomics data for PET100 Gene at MOPED

Post-translational modifications for PET100 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PET100 Gene

No data available for DME Specific Peptides for PET100 Gene

Domains & Families for PET100 Gene

Protein Domains for PET100 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P0DJ07

UniProtKB/Swiss-Prot:

PT100_HUMAN :
  • Belongs to the PET100 family.
Family:
  • Belongs to the PET100 family.
genes like me logo Genes that share domains with PET100: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for PET100 Gene

Function for PET100 Gene

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PET100 Gene

Localization for PET100 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PET100 Gene

Membrane; Single-pass membrane protein. Mitochondrion. Note=Localizes to a membrane-bound organelle. {ECO:0000269 PubMed:22356826}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PET100 Gene COMPARTMENTS Subcellular localization image for PET100 gene
Compartment Confidence
mitochondrion 3

Gene Ontology (GO) - Cellular Components for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PET100: view

Pathways & Interactions for PET100 Gene

SuperPathways for PET100 Gene

No Data Available

Interacting Proteins for PET100 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000470539%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000470539 for PET100 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IEA --
genes like me logo Genes that share ontologies with PET100: view

No data available for Pathways by source and SIGNOR curated interactions for PET100 Gene

Drugs & Compounds for PET100 Gene

No Compound Related Data Available

Transcripts for PET100 Gene

mRNA/cDNA for PET100 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PET100 Gene

PET100 homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PET100 Gene

No ASD Table

Relevant External Links for PET100 Gene

GeneLoc Exon Structure for
PET100
ECgene alternative splicing isoforms for
PET100

Expression for PET100 Gene

mRNA expression in normal human tissues for PET100 Gene

Protein differential expression in normal tissues from HIPED for PET100 Gene

This gene is overexpressed in Bone (65.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PET100 Gene



SOURCE GeneReport for Unigene cluster for PET100 Gene Hs.728837

genes like me logo Genes that share expression patterns with PET100: view

Protein tissue co-expression partners for PET100 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PET100 Gene

Orthologs for PET100 Gene

This gene was present in the common ancestor of animals.

Orthologs for PET100 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PET100 35
  • 88.89 (n)
  • 83.33 (a)
dog
(Canis familiaris)
Mammalia PET100 35
  • 90.41 (n)
  • 82.19 (a)
mouse
(Mus musculus)
Mammalia Pet100 35
  • 80.37 (n)
  • 73.97 (a)
Pet100 16
Pet100 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PET100 35
  • 99.09 (n)
  • 100 (a)
-- 36
  • 100 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pet100 35
  • 81.28 (n)
  • 75.34 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pet100 35
  • 69.7 (n)
  • 66.67 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100334510 35
  • 65.75 (n)
  • 64.38 (a)
PET100 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14483 36
  • 32 (a)
OneToOne
Species with no ortholog for PET100:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PET100 Gene

ENSEMBL:
Gene Tree for PET100 (if available)
TreeFam:
Gene Tree for PET100 (if available)

Paralogs for PET100 Gene

(1) SIMAP similar genes for PET100 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PET100: view

No data available for Paralogs for PET100 Gene

Variants for PET100 Gene

Variation tolerance for PET100 Gene

Gene Damage Index Score: 2.90; 48.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PET100 Gene

HapMap Linkage Disequilibrium report
PET100
Human Gene Mutation Database (HGMD)
PET100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for PET100 Gene

Disorders for PET100 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PET100 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association

Relevant External Links for PET100

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PET100
genes like me logo Genes that share disorders with PET100: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PET100 Gene

Publications for PET100 Gene

  1. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (PMID: 24462369) Lim S.C. … Thorburn D.R. (Am. J. Hum. Genet. 2014) 2 67
  2. 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. (PMID: 22356826) Szklarczyk R. … Huynen M.A. (Genome Biol. 2012) 2 67
  3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 67
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 67
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 67

Products for PET100 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate PET100
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for PET100
    • Block miRNA regulation of PET100 using miScript Target Protectors

    Sources for PET100 Gene

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