Human Gene COX17 (ENST00000261070.7_7) from GENCODE V47lift37
  Description: cytochrome c oxidase copper chaperone COX17, transcript variant 2 (from RefSeq NM_005694.2)
Gencode Transcript: ENST00000261070.7_7
Gencode Gene: ENSG00000138495.7_13
Transcript (Including UTRs)
   Position: hg19 chr3:119,388,379-119,396,253 Size: 7,875 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr3:119,393,996-119,396,157 Size: 2,162 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:119,388,379-119,396,253)mRNA (may differ from genome)Protein (63 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COX17_HUMAN
DESCRIPTION: RecName: Full=Cytochrome c oxidase copper chaperone;
FUNCTION: Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A) site of COX (By similarity).
SUBUNIT: Interacts with COA1.
SUBCELLULAR LOCATION: Mitochondrion intermembrane space (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the COX17 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


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 47.44 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 857.85 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.4096-0.327 Picture PostScript Text
3' UTR -17.30138-0.125 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
IPR007745 - Cyt_c_oxidase_Cu-chaperone
IPR009069 - MTCP1

Pfam Domains:
PF05051 - Cytochrome C oxidase copper chaperone (COX17)

SCOP Domains:
47072 - Cysteine alpha-hairpin motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2L0Y - NMR MuPIT 2LGQ - NMR MuPIT 2RN9 - NMR MuPIT 2RNB - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q14061
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 orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005507 copper ion binding
GO:0005515 protein binding
GO:0016531 copper chaperone activity
GO:0046872 metal ion binding
GO:1903136 cuprous ion binding

Biological Process:
GO:0006091 generation of precursor metabolites and energy
GO:0006825 copper ion transport
GO:0007420 brain development
GO:0007507 heart development
GO:0008284 positive regulation of cell proliferation
GO:0033617 mitochondrial respiratory chain complex IV assembly
GO:1904960 positive regulation of cytochrome-c oxidase activity

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space


-  Descriptions from all associated GenBank mRNAs
  LF210610 - JP 2014500723-A/18113: Polycomb-Associated Non-Coding RNAs.
AK377173 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F1, expressed in lung tumor tissue.
AK377174 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F2, expressed in stomach tumor tissue.
AK377175 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F3, expressed in kidney tumor tissue.
AK377176 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F4, expressed in kidney tumor tissue.
AK377177 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F5, expressed in bladder tumor tissue.
AK377178 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F6, expressed in kidney normal tissue.
AK377179 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F7, expressed in colon tumor tissue.
AK377180 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F8, expressed in uterus normal tissue.
AK377181 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F9, expressed in breast tumor tissue.
AK377182 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F10, expressed in ovary tumor tissue.
AK377183 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F11, expressed in breast tumor tissue.
AK377184 - Homo sapiens mRNA, clone: COX17-POPCD2-Hu-F12, expressed in breast tumor tissue.
L77701 - Homo sapiens COX17 mRNA, complete cds.
BC108317 - Homo sapiens COX17 cytochrome c oxidase assembly homolog (S. cerevisiae), mRNA (cDNA clone MGC:117386 IMAGE:6059346), complete cds.
BC010933 - Homo sapiens COX17 cytochrome c oxidase assembly homolog (S. cerevisiae), mRNA (cDNA clone MGC:13542 IMAGE:4296970), complete cds.
AK054900 - Homo sapiens cDNA FLJ30338 fis, clone BRACE2007398.
AK095366 - Homo sapiens cDNA FLJ38047 fis, clone CTONG2014234.
BC105280 - Homo sapiens COX17 cytochrome c oxidase assembly homolog (S. cerevisiae), mRNA (cDNA clone MGC:104397 IMAGE:6739165), complete cds.
LF339277 - JP 2014500723-A/146780: Polycomb-Associated Non-Coding RNAs.
LF339276 - JP 2014500723-A/146779: Polycomb-Associated Non-Coding RNAs.
JD526378 - Sequence 507402 from Patent EP1572962.
AK312143 - Homo sapiens cDNA, FLJ92426, Homo sapiens COX17 homolog, cytochrome c oxidase assembly protein(yeast) (COX17), nuclear gene encoding mitochondrial protein, mRNA.
KJ892907 - Synthetic construct Homo sapiens clone ccsbBroadEn_02301 COX17 gene, encodes complete protein.
HQ448327 - Synthetic construct Homo sapiens clone IMAGE:100071745; CCSB006393_03 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX17) gene, encodes complete protein.
LF339272 - JP 2014500723-A/146775: Polycomb-Associated Non-Coding RNAs.
LF339269 - JP 2014500723-A/146772: Polycomb-Associated Non-Coding RNAs.
LF339268 - JP 2014500723-A/146771: Polycomb-Associated Non-Coding RNAs.
MA446187 - JP 2018138019-A/18113: Polycomb-Associated Non-Coding RNAs.
MA574854 - JP 2018138019-A/146780: Polycomb-Associated Non-Coding RNAs.
MA574853 - JP 2018138019-A/146779: Polycomb-Associated Non-Coding RNAs.
MA574849 - JP 2018138019-A/146775: Polycomb-Associated Non-Coding RNAs.
MA574846 - JP 2018138019-A/146772: Polycomb-Associated Non-Coding RNAs.
MA574845 - JP 2018138019-A/146771: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14061 (Reactome details) participates in the following event(s):

R-HSA-1307802 MIA40:ERV1 (CHCHD4:GFER) oxidizes cysteine residues to cystine disulfide bonds
R-HSA-1268020 Mitochondrial protein import
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2R5D2, COX17_HUMAN, D3DN84, ENST00000261070.1, ENST00000261070.2, ENST00000261070.3, ENST00000261070.4, ENST00000261070.5, ENST00000261070.6, NM_005694, Q14061, Q3MHD6, uc317gmy.1, uc317gmy.2
UCSC ID: ENST00000261070.7_7
RefSeq Accession: NM_005694.2
Protein: Q14061 (aka COX17_HUMAN or COXS_HUMAN)

-  Gene Model Information
  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.