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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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 related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 menkes disease, and wilson disease, and among its related super-pathways are Electron Transport Chain and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COX17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion intermembrane space (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14061

  • COX17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COX17 Protein Expression
    REFSEQ proteins: NP_005685.1  
    ENSEMBL proteins: 
     ENSP00000420406   ENSP00000417805   ENSP00000261070   ENSP00000417120   ENSP00000417651  
     ENSP00000417923  
    Reactome Protein details: Q14061
    Human Recombinant Protein Products for COX17: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for COX17
    GenScript Custom Purified and Recombinant Proteins Services for COX17
    Novus Biologicals COX17 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COX17 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    COX17 for ontologies           About GeneDecksing



    COX17 Antibody Products: 
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    Novus Biologicals COX17 Antibodies
    Abcam antibodies for COX17
    Cloud-Clone Corp. Antibodies for COX17 
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    LSBio Antibodies in human, mouse, rat for COX17 

    Assay Products for COX17: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for COX17 
    Cloud-Clone Corp. CLIAs for COX17


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    COX17 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005507copper ion binding TAS9050918
    GO:0016531copper chaperone activity IEA--
         
    COX17 for ontologies           About GeneDecksing


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

    COX17 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for COX17 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COX17

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX17 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COX17 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COX17
    1 QIAGEN miScript miRNA Assays for microRNA that regulate COX17:
    hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidCOX17 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of COX17

    Clone
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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
    Sirion Biotech Customized lentivirus for stable overexpression of COX17 
                         Customized lentivirus expression plasmids for stable overexpression of COX17 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX17


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 pathways0.40
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    4Mitochondrial Protein Import
    Mitochondrial Protein Import
    5AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for COX17
        Electron Transport Chain


    2        Reactome Pathways for COX17
        Mitochondrial Protein Import
    Metabolism of proteins


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


    COX17 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COX17

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/29 Interacting proteins for COX17 (Q140612, 3 ENSP000002610704) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    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 (GO ID links to tree view):    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--

    COX17 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COX17 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about COX17

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate COX17:
    hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidCOX17 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COX17
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COX17
    Clone
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    OriGene ORF clones in mouse, rat for COX17
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    GenScript: all cDNA clones in your preferred vector: COX17 (NM_005694)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX17
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX17
    Sirion Biotech Customized lentivirus for stable overexpression of COX17 
                         Customized lentivirus expression plasmids for stable overexpression of COX17 
    Primer
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    OriGene qPCR primer pairs and template standards for COX17
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COX17
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX17
      QIAGEN 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 

    24/267 AceView cDNA sequences (see all 267):

    F26605 F31554 BX094462 AI093009 L77701 BQ267465 NM_005694 W05763 
    AA897414 F30220 AW004609 AI741753 AW470042 N75018 BU783975 NM_022135 
    AI459181 AI567443 AI190976 AI453593 BQ639694 BX113663 BM709809 AI418437 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COX17 expression in normal human tissues (normalized intensities)      COX17 embryonic expression: see
    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 
     5/30 selected tissues (see all 30) fully expand
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See COX17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX17

    SOURCE GeneReport for Unigene cluster: Hs.534383

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

        SABiosciences Custom PCR Arrays for COX17
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX17
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COX17 gene from 7/14 species (see all 14)    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_001233519.2  XP_001233520.1 
    lizard
    (Anolis carolinensis)
    Reptilia COX176
    Uncharacterized protein
    96(a)
    1 ↔ 1
    GL343414.1(204645-204725)
    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 F40G9.26
    Protein F40G9.2
    60(a)
    1 ↔ 1
    III(190984-191981)


    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/234 SNPs in COX17 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604813    OMIM disorders: --

    4 diseases for COX17:    About MalaCards
    menkes disease    wilson disease    cerebritis    lung cancer

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

    COX17 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for COX17 gene, integrated from 9 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. (1997)
    2. Functional role of two interhelical disulfide bonds i n human Cox17 protein from a structural perspective. (PubMed id 21816817)1, 2, 3 Banci L....Gallo A. (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. (2000)
    4. Iterative orthology prediction uncovers new mitochond rial 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. (2012)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2004)
    8. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. (PubMed id 11027508)1, 9 Horvath R.... Jaksch M. (2000)
    9. Identification of COX17 as a therapeutic target for non-small cell lung cancer. (PubMed id 14612491)1, 9 Suzuki C....Nakamura Y. (2003)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 10063 HGNC: 2264 AceView: COX17andPOPDC2 Ensembl:ENSG00000138495 euGenes: HUgn10063
    ECgene: COX17 Kegg: 10063 H-InvDB: COX17

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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