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Aliases for PET100 Gene

Aliases for PET100 Gene

  • PET100 Cytochrome C Oxidase Chaperone 2 3
  • PET100 Homolog 2 3 5
  • Protein PET100 Homolog, Mitochondrial 3 4
  • 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 Cytochrome C Oxidase Chaperone) is a Protein Coding gene. Diseases associated with PET100 include Mitochondrial Complex Iv Deficiency and Leigh Syndrome With Leukodystrophy.

Additional gene information for PET100 Gene

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

Genomics for PET100 Gene

GeneHancer (GH) Regulatory Elements for PET100 Gene

Promoters and enhancers for PET100 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J007628 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 617.8 +0.1 64 3.2 SP1 ZFX SIX5 NKRF POLR2A CSDE1 FOS AHR BACH1 YY1 XAB2 PET100 ENSG00000268400 HNRNPM ELAVL1 TRIP10 ZNF557 ENSG00000269680 RETN PCP2
GH19J007636 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 14.9 +7.8 7757 2.2 SP1 CC2D1A ZFX ELF3 MNT ZNF148 MLLT1 POLR2A GTF2F1 ZNF687 STXBP2 PCP2 ENSG00000268204 PET100 ENSG00000268400 RPS27AP19
GH19J007605 Enhancer 1.2 Ensembl ENCODE dbSUPER 18.7 -23.5 -23536 3.6 ZBTB33 PKNOX1 ZSCAN4 ZNF341 NRF1 SP2 ZNF766 HDGF ZBTB17 MBD2 XAB2 PET100 HNRNPM ZNF557 ELAVL1 ZNF414 MAP2K7 CD209 RPL21P129 CLEC4G
GH19J007616 Enhancer 1.2 Ensembl ENCODE dbSUPER 16.6 -11.3 -11299 4.9 NFIB NCOA3 SP1 RXRA ZNF300 ZNF776 ZNF341 ZFX SP2 SCRT2 MIR6792 XAB2 ELAVL1 HNRNPM PET100 PCP2 CAMSAP3 ZNF414 CLEC4G MAP2K7
GH19J007643 Enhancer 0.9 Ensembl ENCODE 13.4 +15.5 15452 4 KLF14 PRDM1 ZNF600 KLF9 SP2 HDGF ZBTB11 PTBP1 KLF8 ZNF366 STXBP2 PET100 PCP2 ENSG00000268204 XAB2 RPS27AP19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PET100 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PET100 Gene

Genomic Locations for PET100 Gene
chr19:7,629,737-7,631,956
(GRCh38/hg38)
Size:
2,220 bases
Orientation:
Plus strand
chr19:7,694,623-7,696,842
(GRCh37/hg19)
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

Gene 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 Suggested Antigen Peptide Sequences for PET100 Gene

Function for PET100 Gene

Phenotypes From GWAS Catalog 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 21873635
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PET100

Clone Products

  • Applied Biological Materials (abm): Clones for PET100 - Now 50% OFF >
  • * PET100 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PET100 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PET100 gene
Compartment Confidence
mitochondrion 4
extracellular 2
endoplasmic reticulum 1
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

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 21873635
genes like me logo Genes that share ontologies with PET100: view

Pathways & Interactions for PET100 Gene

PathCards logo

SuperPathways for PET100 Gene

No Data Available

Interacting Proteins for PET100 Gene

Gene Ontology (GO) - Biological Process for PET100 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly IBA,IEA 21873635
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 :
(9) Additional mRNA sequences :
(7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PET100 Gene

PET100 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PET100

Clone Products

  • Applied Biological Materials (abm): Clones for PET100 - Now 50% OFF >
  • * PET100 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PET100 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Phenotype-based relationships between genes and organs from Gene ORGANizer for PET100 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
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 , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 17 35 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PET100: view image

Paralogs for PET100 Gene

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

  • PT100_HUMAN
  • M0QZ55_HUMAN
  • M0R022_HUMAN
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 Variation AA Info Type
rs587777839 pathogenic, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency, not provided 7,629,836(+) G/C initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs587779779 pathogenic, Congenital lactic acidosis, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 7,631,476(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs4134804 likely-benign, not provided 7,630,627(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1001603852 likely-benign, not specified 7,629,831(+) G/A 5_prime_UTR_variant, non_coding_transcript_variant
rs1057522294 likely-benign, not specified 7,631,458(+) C/A/G/T intron_variant

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)

Additional Variant Information for PET100 Gene

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

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

Disorders for PET100 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
gas gangrene
  • gas bacillus infection
leigh syndrome
  • ls
mitochondrial metabolism disease
  • mitochondrial diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 MA (Genome biology 2012) 2 3 4 58
  2. MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. (PMID: 28199844) Vidoni S … Zeviani M (Cell reports 2017) 2 3 58
  3. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. (PMID: 24462369) Lim SC … Thorburn DR (American journal of human genetics 2014) 2 3 58
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 58
  5. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang AG … Kim NS (Biochemical and biophysical research communications 2006) 3 58

Products for PET100 Gene

Sources for PET100 Gene

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