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Aliases for PET100 Gene

Aliases for PET100 Gene

  • PET100 Homolog 2 3 5
  • C19orf79 3 4
  • Protein PET100 Homolog, Mitochondrial 3
  • 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

Regulatory Elements for PET100 Gene

Enhancers for PET100 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F007628 0.5 ENCODE 17.9 -0.2 -151 2.7 PKNOX1 ATF1 WRNIP1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 ETS1 YY1 XAB2 ELAVL1 ENSG00000269680 PET100 HNRNPM RETN PCP2
GH19F007636 0.2 ENCODE 14.9 +7.7 7722 2.1 HDGF ATF1 PKNOX1 CREB3L1 SIN3A ARID4B YBX1 YY1 ELK1 ZNF143 STXBP2 ZNF414 PET100 ELAVL1 ENSG00000268204 RPS27AP19
GH19F007643 1.1 Ensembl ENCODE 13.4 +15.5 15461 4.0 HDGF KLF1 ZMYM3 ZNF23 ZNF366 POLR2A EED ZNF600 KLF8 EGR2 STXBP2 PET100 PCP2 ENSG00000268204 XAB2 RPS27AP19
GH19F007605 0.7 ENCODE 12.4 -24.0 -24008 0.4 HDGF PKNOX1 DDX20 ZNF366 SCRT2 KLF8 ZNF263 SP3 NRF1 SP2 PET100 XAB2 CD209 RPL21P129 CLEC4G ARHGEF18 CAMSAP3 MIR6792
GH19F007600 0.5 FANTOM5 12.4 -29.5 -29488 0.3 PET100 XAB2 CD209 RPL21P129 ARHGEF18 CLEC4G CAMSAP3 PNPLA6 INSR MIR6792
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PET100 on UCSC Golden Path with GeneCards custom track

Promoters for PET100 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000042783 -37 1801 PKNOX1 ATF1 WRNIP1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 ETS1 YY1

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

Genes around PET100 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PET100 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PET100 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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

Gene Ontology (GO) - Molecular Function for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding IBA --
genes like me logo Genes that share ontologies with PET100: view

Human Phenotype Ontology for PET100 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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 4
extracellular 3
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IBA --
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,IBA --
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

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:

Clone Products

Flow Cytometry Products

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 and MOPED for PET100 Gene



Protein tissue co-expression partners for PET100 Gene

NURSA nuclear receptor signaling pathways regulating expression of PET100 Gene:

PET100

SOURCE GeneReport for Unigene cluster for PET100 Gene:

Hs.728837
genes like me logo Genes that share expression patterns with PET100: view

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
chimpanzee
(Pan troglodytes)
Mammalia -- 35
  • 100 (a)
OneToMany
PET100 34
  • 99.09 (n)
-- 35
  • 96 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PET100 34
  • 90.41 (n)
cow
(Bos Taurus)
Mammalia PET100 34
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Pet100 34
  • 81.28 (n)
mouse
(Mus musculus)
Mammalia Pet100 34 16 35
  • 80.37 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pet100 34
  • 69.7 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334510 34
  • 65.75 (n)
PET100 35
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14483 35
  • 32 (a)
OneToOne
Species where no ortholog for PET100 was found in the sources mined by GeneCards:
  • 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

Sequence variations from dbSNP and Humsavar for PET100 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs587777839 Pathogenic 7,629,836(+) GAGAT(C/G)GGGGT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587779779 Pathogenic 7,631,476(+) AGCTT(C/T)AAGAG intron-variant, nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, reference, stop-gained
rs4134804 Likely benign 7,630,627(-) CCACT(C/T)GGCCT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs111230831 -- 7,631,997(+) GCCCT(C/T)GCTGG intron-variant
rs111442368 -- 7,628,529(+) CAAAT(A/C)ATCAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PET100 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV gain 17911159
nsv1060887 CNV gain 25217958
nsv833730 CNV loss 17160897
nsv833731 CNV loss 17160897
nsv953958 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
PET100
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PET100

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PET100 Gene

Disorders for PET100 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PET100 Gene - From: OMIM, ClinVar, GeneTests, 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
gas gangrene
  • gas bacillus infection
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

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. 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 3 4 64
  2. 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 3 64
  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) 3 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 4 64

Products for PET100 Gene

Sources for PET100 Gene

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