COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008] See more...

Aliases for COX19 Gene

Aliases for COX19 Gene

  • Cytochrome C Oxidase Assembly Factor COX19 2 3 5
  • Cytochrome C Oxidase Assembly Protein COX19 3 4
  • COX19, Cytochrome C Oxidase Assembly Factor 2 3
  • HCOX19 3 4
  • COX19 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae) 2
  • Cytochrome C Oxidase Assembly Homolog 19 (S. Cerevisiae) 2
  • COX19 Cytochrome C Oxidase Assembly Homolog 3
  • Cytochrome C Oxidase Assembly Homolog 19 3

External Ids for COX19 Gene

Previous GeneCards Identifiers for COX19 Gene

  • GC07M000972
  • GC07M000939

Summaries for COX19 Gene

Entrez Gene Summary for COX19 Gene

  • COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

GeneCards Summary for COX19 Gene

COX19 (Cytochrome C Oxidase Assembly Factor COX19) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitochondrial protein import. An important paralog of this gene is CHCHD5.

UniProtKB/Swiss-Prot Summary for COX19 Gene

  • Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis (PubMed:23345593). May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity).

Additional gene information for COX19 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX19 Gene

Genomics for COX19 Gene

GeneHancer (GH) Regulatory Elements for COX19 Gene

Promoters and enhancers for COX19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX19 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX19

Top Transcription factor binding sites by QIAGEN in the COX19 gene promoter:
  • Bach2
  • HEN1
  • MIF-1
  • NF-1
  • NF-1/L
  • NRSF form 1
  • NRSF form 2
  • Roaz
  • SRY
  • Zic1

Genomic Locations for COX19 Gene

Genomic Locations for COX19 Gene
chr7:898,778-975,599
(GRCh38/hg38)
Size:
76,822 bases
Orientation:
Minus strand
chr7:938,415-1,015,235
(GRCh37/hg19)
Size:
76,821 bases
Orientation:
Minus strand

Genomic View for COX19 Gene

Genes around COX19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX19 Gene

Proteins for COX19 Gene

  • Protein details for COX19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q49B96-COX19_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly protein COX19
    Protein Accession:
    Q49B96
    Secondary Accessions:
    • A4FTX0

    Protein attributes for COX19 Gene

    Size:
    90 amino acids
    Molecular mass:
    10394 Da
    Quaternary structure:
    • Interacts with CHCHD4/MIA40 forming transient intermolecular disulfide bridges.

neXtProt entry for COX19 Gene

Post-translational modifications for COX19 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX19 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX19 Gene

Domains & Families for COX19 Gene

Gene Families for COX19 Gene

Protein Domains for COX19 Gene

Blocks:
  • CHCH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COX19 Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase assembly protein COX19 (COX19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q49B96

UniProtKB/Swiss-Prot:

COX19_HUMAN :
  • Belongs to the COX19 family.
Family:
  • Belongs to the COX19 family.
genes like me logo Genes that share domains with COX19: view

Function for COX19 Gene

Molecular function for COX19 Gene

UniProtKB/Swiss-Prot Function:
Required for the transduction of an SCO1-dependent redox signal from the mitochondrion to ATP7A to regulate cellular copper homeostasis (PubMed:23345593). May be required for the assembly of mitochondrial cytochrome c oxidase (By similarity).

Phenotypes From GWAS Catalog for COX19 Gene

Gene Ontology (GO) - Molecular Function for COX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23676665
genes like me logo Genes that share ontologies with COX19: view

Phenotypes for COX19 Gene

genes like me logo Genes that share phenotypes with COX19: view

Animal Models for COX19 Gene

MGI Knock Outs for COX19:
  • Cox19 Cox19<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for COX19 Gene

miRTarBase miRNAs that target COX19

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COX19 Gene

Localization for COX19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX19 Gene

Cytoplasm, cytosol. Mitochondrion intermembrane space. Mitochondrion. Note=Partitions between mitochondria and the cytosol in a copper-dependent manner. Enriched in the cytosol when intracellular copper concentrations are elevated. {ECO:0000269 PubMed:23345593}.

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 COX19 gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,IEA 23345593
GO:0005758 mitochondrial intermembrane space IDA,IBA 23345593
GO:0005829 cytosol IDA,IEA 23345593
genes like me logo Genes that share ontologies with COX19: view

Pathways & Interactions for COX19 Gene

genes like me logo Genes that share pathways with COX19: view

Pathways by source for COX19 Gene

2 Reactome pathways for COX19 Gene
1 KEGG pathway for COX19 Gene

Gene Ontology (GO) - Biological Process for COX19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006878 cellular copper ion homeostasis IMP 23345593
GO:0033617 mitochondrial respiratory chain complex IV assembly IBA 21873635
genes like me logo Genes that share ontologies with COX19: view

No data available for SIGNOR curated interactions for COX19 Gene

Drugs & Compounds for COX19 Gene

No Compound Related Data Available

Transcripts for COX19 Gene

mRNA/cDNA for COX19 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX19 Gene

No ASD Table

Relevant External Links for COX19 Gene

GeneLoc Exon Structure for
COX19

Expression for COX19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX19 Gene

Protein differential expression in normal tissues from HIPED for COX19 Gene

This gene is overexpressed in Heart (43.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX19 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX19

SOURCE GeneReport for Unigene cluster for COX19 Gene:

Hs.121593

mRNA Expression by UniProt/SwissProt for COX19 Gene:

Q49B96-COX19_HUMAN
Tissue specificity: Ubiquitously expressed. Highly expressed in skeletal muscle.

Evidence on tissue expression from TISSUES for COX19 Gene

  • Lung(4.1)
  • Nervous system(3.6)
genes like me logo Genes that share expression patterns with COX19: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX19 Gene

Orthologs for COX19 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for COX19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX19 31 30
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COX19 31 30
  • 86.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COX19 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox19 17 31 30
  • 81.27 (n)
rat
(Rattus norvegicus)
Mammalia Cox19 30
  • 80.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COX19 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX19 31 30
  • 66.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COX19 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cox19 30
  • 71.49 (n)
Str.15707 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.34176 30
zebrafish
(Danio rerio)
Actinopterygii COX19 31
  • 70 (a)
OneToOne
zgc:162175 30
  • 68.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG42496 31
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F45H11.5 31
  • 42 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COX19 33 31
  • 34 (a)
Species where no ortholog for COX19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for COX19 Gene

ENSEMBL:
Gene Tree for COX19 (if available)
TreeFam:
Gene Tree for COX19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX19: view image

Paralogs for COX19 Gene

Paralogs for COX19 Gene

Pseudogenes.org Pseudogenes for COX19 Gene

genes like me logo Genes that share paralogs with COX19: view

Variants for COX19 Gene

Additional dbSNP identifiers (rs#s) for COX19 Gene

Structural Variations from Database of Genomic Variants (DGV) for COX19 Gene

Variant ID Type Subtype PubMed ID
dgv11111n54 CNV loss 21841781
esv3571557 CNV loss 25503493
esv3571558 CNV loss 25503493
nsv1024118 CNV gain 25217958
nsv1028282 CNV gain 25217958
nsv1161477 CNV deletion 26073780
nsv464244 CNV loss 19166990
nsv464245 CNV gain 19166990
nsv509182 CNV insertion 20534489
nsv605699 CNV loss 21841781
nsv605700 CNV gain 21841781
nsv605705 CNV loss 21841781
nsv823958 CNV loss 20364138
nsv950784 CNV deletion 24416366

Variation tolerance for COX19 Gene

Residual Variation Intolerance Score: 53.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX19

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX19 Gene

Disorders for COX19 Gene

Additional Disease Information for COX19

No disorders were found for COX19 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COX19 Gene

Publications for COX19 Gene

  1. COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux. (PMID: 23345593) Leary SC … Shoubridge EA (Molecular biology of the cell 2013) 2 3 4 54
  2. hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. (PMID: 16212937) Sacconi S … Salviati L (Biochemical and biophysical research communications 2005) 2 3 4 54
  3. Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells. (PMID: 23676665) Fischer M … Riemer J (Molecular biology of the cell 2013) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. (PMID: 15596615) Tay SK … Dimauro S (Archives of neurology 2004) 2 3 54

Products for COX19 Gene

Sources for COX19 Gene