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COX17 Gene

protein-coding   GIFtS: 60
GCID: GC03M119373

COX17 Cytochrome C Oxidase Copper Chaperone

(Previous names: COX17 (yeast) homolog, cytochrome c oxidase assembly protein,...)
  See COX17-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
COX17 Cytochrome C Oxidase Copper Chaperone1 2     COX17 Cytochrome C Oxidase Assembly Homolog2
COX17 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein1     Cytochrome C Oxidase 17 Copper Chaperone2
COX17 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae)1     Cytochrome C Oxidase Assembly Homolog 172
COX17 Homolog, Cytochrome C Oxidase Assembly Protein (S. Cerevisiae)1     Cytochrome C Oxidase Copper Chaperone2
COX17 Homolog, Cytochrome C Oxidase Assembly Protein (Yeast)1     Human Homolog Of Yeast Mitochondrial Copper Recruitment2
Cytochrome C Oxidase Assembly Homolog 17 (Yeast)1     

External Ids:    HGNC: 22641   Entrez Gene: 100632   Ensembl: ENSG000001384957   OMIM: 6048135   UniProtKB: Q140613   

Export aliases for COX17 gene to outside databases

Previous GC identifers: GC03M116001 GC03M119017 GC03M120642 GC03M120709 GC03M120871 GC03M116764


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COX17 Gene:
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron
transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic
subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The
mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in
the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural
subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX
apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is
no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome
13. (provided by RefSeq, Jul 2008)

GeneCards Summary for COX17 Gene:
COX17 (COX17 cytochrome c oxidase copper chaperone) is a protein-coding gene. Diseases associated with COX17 include leigh disease. GO annotations related to this gene include copper ion binding and copper chaperone activity.

UniProtKB/Swiss-Prot: COX17_HUMAN, Q14061
Function: Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A)
site of COX (By similarity)

Gene Wiki entry for COX17 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the COX17 gene promoter:
         STAT1   Sp1   STAT1beta   c-Ets-1   STAT1alpha   Nkx6-1   POU2F1   POU2F1a   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX17 promoter sequence
   Search Chromatin IP Primers for COX17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX17


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13.33   Ensembl cytogenetic band:  3q13.33   HGNC cytogenetic band: 3q13.33

COX17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX17 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M119373:  view genomic region     (about GC identifiers)

Start:
119,373,360 bp from pter      End:
119,396,301 bp from pter
Size:
22,942 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: COX17_HUMAN, Q14061 (See protein sequence)
Recommended Name: Cytochrome c oxidase copper chaperone  
Size: 63 amino acids; 6915 Da
Subunit: Interacts with COA1. Interacts with the chaperone CHCHD4; this is important for correct folding and the
formation of disulfide bonds that stabilize the structure
4 PDB 3D structures from and Proteopedia for COX17:
2L0Y (3D)        2LGQ (3D)        2RN9 (3D)        2RNB (3D)    
Secondary accessions: B2R5D2 D3DN84 Q3MHD6

Explore the universe of human proteins at neXtProt for COX17: NX_Q14061

Explore proteomics data for COX17 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COX17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005685.1  
    ENSEMBL proteins: 
     ENSP00000420406   ENSP00000417805   ENSP00000261070   ENSP00000417120   ENSP00000417651  
     ENSP00000417923  
    Reactome Protein details: Q14061

    COX17 Human Recombinant Protein Products:

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    Novus Biologicals COX17 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COX17

     
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    antibodies-online proteins for COX17 (8 products) 

     
    Search antibodies-online for peptides for COX17

    COX17 Antibody Products:

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    antibodies-online antibodies for COX17 (33 products) 

    COX17 Assay Products:

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    Cloud-Clone Corp. CLIAs for COX17
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    antibodies-online kits for COX17 (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    2 InterPro protein domains:
     IPR007745 Cyt_c_oxidase_Cu-chaperone
     IPR009069 Cys_alpha_HP_mot_SF

    Graphical View of Domain Structure for InterPro Entry Q14061

    ProtoNet protein and cluster: Q14061

    1 Blocks protein domain: IPB007745 Cytochrome C oxidase copper chaperone

    UniProtKB/Swiss-Prot: COX17_HUMAN, Q14061
    Similarity: Belongs to the COX17 family


    Find genes that share domains with COX17           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COX17_HUMAN, Q14061
    Function: Copper chaperone for cytochrome c oxidase (COX). Binds two copper ions and deliver them to the Cu(A)
    site of COX (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding TAS9050918
    GO:0016531copper chaperone activity IEA--
         
    Find genes that share ontologies with COX17           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cox17):
     cellular  embryogenesis  homeostasis/metabolism  mortality/aging 

    Find genes that share phenotypes with COX17           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for COX17

    miRNA
    Products:
        
    miRTarBase miRNAs that target COX17:
    hsa-mir-186-5p (MIRT045209)

    Block miRNA regulation of human, mouse, rat COX17 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COX17:
    hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidCOX17 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COX17
    Predesigned siRNA for gene silencing in human, mouse, rat COX17

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for COX17

    Clone
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    OriGene clones in human, mouse for COX17 (see all 6)
    OriGene ORF clones in mouse, rat for COX17
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    GenScript: all cDNA clones in your preferred vector: COX17 (NM_005694)
    Sino Biological Human cDNA Clone for COX17
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX17

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for COX17
    Browse ESI BIO Cell Lines and PureStem Progenitors for COX17 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX17


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COX17_HUMAN, Q14061: Mitochondrion intermembrane space (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion3
    extracellular2
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9050918
    GO:0005758mitochondrial intermembrane space IEA--

    Find genes that share ontologies with COX17           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COX17 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Electron Transport Chain0.75
    Oxidative phosphorylation0.64
    2Metabolism
    Metabolic pathways0.38
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Mitochondrial Protein Import
    Mitochondrial Protein Import
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway


    Find genes that share SuperPaths with COX17           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for COX17
        AMPK Enzyme Complex Pathway

    1 BioSystems Pathway for COX17
        Electron Transport Chain


    1 Reactome Pathway for COX17
        Mitochondrial protein import


    2 Kegg Pathways  (Kegg details for COX17):
        Oxidative phosphorylation
    Metabolic pathways

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COX17
    Interactions:

        Search GeneGlobe Interaction Network for COX17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for COX17 (Q140612, 3 ENSP000002610704) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-64164 I2D: score=5 STRING: ENSP00000269305
    C14orf1Q9UKR52, 3MINT-64170 I2D: score=5 
    COPS6Q7L5N12, 3MINT-64167 I2D: score=5 
    PPBPP027752, 3MINT-64163 I2D: score=5 
    UNC119Q134322, 3MINT-64165 I2D: score=5 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006091generation of precursor metabolites and energy TAS9050918
    GO:0006825copper ion transport IEA--
    GO:0007420brain development IEA--
    GO:0007507heart development IEA--

    Find genes that share ontologies with COX17           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COX17

    1 HMDB Compound for COX17    About this table
    CompoundSynonyms CAS #PubMed Ids
    CopperCu (see all 2)7440-50-8--

    2 Novoseek inferred chemical compound relationships for COX17 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    copper 65.1 18 9050918 (2), 15955185 (2), 10982038 (2), 14972329 (1) (see all 9)
    superoxide 12.4 3 14729672 (1), 15239669 (1)



    Find genes that share compounds with COX17           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COX17 gene: 
    NM_005694.1  

    Unigene Cluster for COX17:

    Cytochrome c oxidase assembly homolog 17 (yeast)
    Hs.534383  [show with all ESTs]
    Unigene Representative Sequence: AK377184
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000490145 ENST00000468918 ENST00000261070(uc003ecz.1) ENST00000486606
    ENST00000484810 ENST00000497997 ENST00000497116
    miRNA
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    Block miRNA regulation of human, mouse, rat COX17 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COX17:
    hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidCOX17 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COX17
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    Primer
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    OriGene qPCR primer pairs and template standards for COX17
    OriGene qSTAR qPCR primer pairs in human, mouse for COX17
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX17
      QuantiTect SYBR Green Assays in human, mouse, rat COX17
      QuantiFast Probe-based Assays in human, mouse, rat COX17

    Additional mRNA sequence: 

    AK312143.1 AK377173.1 AK377175.1 AK377176.1 AK377177.1 AK377178.1 AK377179.1 AK377180.1 
    AK377181.1 AK377182.1 AK377183.1 AK377184.1 BC010933.1 BC105280.1 BC108317.1 L77701.1 

    18 DOTS entries:

    DT.416327  DT.412864  DT.92425829  DT.95211361  DT.86854326  DT.97820509  DT.40108773  DT.100687642 
    DT.120909408  DT.97785110  DT.120909375  DT.95167023  DT.202921  DT.95211359  DT.100764985  DT.95167022 
    DT.100709387  DT.100764983 

    Selected AceView cDNA sequences (see all 267):

    F30220 BM719827 AW470042 N75018 BU783975 NM_022135 BM709809 BM720367 
    BX113663 AW204888 F26605 AW004609 AI453593 BM510677 AA897414 AI418437 
    AI567443 AI093009 BQ267465 AI361675 BE644634 AI459181 F31554 AA347781 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for COX17    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6
    SP1:                          -     -     -           -     -         
    SP2:                          -     -     -           -               
    SP3:                                      -                           
    SP4:                          -     -     -                           
    SP5:                                                                  


    ECgene alternative splicing isoforms for COX17

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COX17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGCCCTAG
    COX17 Expression
    About this image


    COX17 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    COX17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COX17 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534383

    UniProtKB/Swiss-Prot: COX17_HUMAN, Q14061
    Tissue specificity: Ubiquitous

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    QuantiFast Probe-based Assays in human, mouse, rat COX17
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX17

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for COX17 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox171 , 5 cytochrome c oxidase, subunit XVII assembly protein more5
    cytochrome c oxidase assembly protein 171
    87.83(n)1
    92.06(a)1
      16 (26.77 cM)5
    128561  NM_001017429.21  NP_001017429.11 
     383469915 
    chicken
    (Gallus gallus)
    Aves COX171 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) 76.44(n)
    86.21(a)
      770190  XM_001233519.3  XP_001233520.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia CD100339.12   -- 79.78(n)    CD100339.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cox171 COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) 72.32(n)
    79.66(a)
      447914  NM_001004652.2  NP_001004652.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90656
    --
    41(a)
    1 ↔ 1
    X(14978054-14978688)
    worm
    (Caenorhabditis elegans)
    Secernentea cox-176
    Protein F40G9.2 (F40G9.2) mRNA, complete cds
    60(a)
    1 ↔ 1
    III(190984-191981) WBGene00018240


    ENSEMBL Gene Tree for COX17 (if available)
    TreeFam Gene Tree for COX17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COX17 (see all 234)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1144645341,2
    C,F--119387896(+) AGGCAC/TGAAAC 1 -- ds50012Minor allele frequency- T:0.02WA NA 238
    rs1876561821,2
    --119387990(+) ACCCTA/CATCTG 1 -- ds50010--------
    rs1921484001,2
    --119388063(+) ATAATA/GAGACT 1 -- ds50010--------
    rs582417921,2
    C--119388114(+) AAAAA-/A/A   
       A
    /AAA
    GAGTG
    2 -- ds5001 cds11NA 2
    rs1491657551,2
    --119388234(+) CTCCTG/TACAAC 1 -- ds50010--------
    rs1849295471,2
    C--119388240(+) ACAACA/GGATAT 1 -- ds50010--------
    rs1149329031,2
    F--119388283(+) CATAAG/CAACCT 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1432683331,2
    --119388336(+) GCCACA/GTGAGC 1 -- ds50010--------
    rs1391334801,2
    --119388651(+) AGTCAC/TAAAAT 1 -- int10--------
    rs37721341,2
    C,F,A,H--119388666(-) AAATGT/CTGATT 1 -- int119Minor allele frequency- C:0.49EA NS NA CSA WA 3828

    HapMap Linkage Disequilibrium report for COX17 (119373360 - 119396301 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for COX17:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv460834CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COX17
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604813    OMIM disorders: --

    1 disease for COX17:    
    About MalaCards
    leigh disease

    2 diseases from the University of Copenhagen DISEASES database for COX17:
    Leigh disease     Menkes disease

    Find genes that share disorders with COX17           About GenesLikeMe

    Genetic Association Database (GAD): COX17
    Human Genome Epidemiology (HuGE) Navigator: COX17 (1 document)

    Export disorders for COX17 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for COX17 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with COX17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. (PubMed id 9050918)1, 2, 3, 9 Amaravadi R.... Tzagoloff A. (Hum. Genet. 1997)
    2. Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective. (PubMed id 21816817)1, 2, 3 Banci L.... Gallo A. (J. Biol. Chem. 2011)
    3. Characterization and localization of human COX17, a gene involved in mitochondrial copper transport. (PubMed id 10982038)1, 2, 9 Punter F.A.... Glerum D.M. (Hum. Genet. 2000)
    4. 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. (PubMed id 22356826)1, 2 Szklarczyk R.... Huynen M.A. (Genome Biol. 2012)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. (PubMed id 11027508)1, 9 Horvath R.... Jaksch M. (Biochem. Biophys. Res. Commun. 2000)
    9. Identification of COX17 as a therapeutic target for non-small cell lung cancer. (PubMed id 14612491)1, 9 Suzuki C....Nakamura Y. (Cancer Res. 2003)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10063 HGNC: 2264 AceView: COX17andPOPDC2 Ensembl:ENSG00000138495 euGenes: HUgn10063
    ECgene: COX17 Kegg: 10063 H-InvDB: COX17

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COX17 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COX17 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for COX17 gene:
    Search GeneIP for patents involving COX17

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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