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COX17 Gene

protein-coding   GIFtS: 59

GC03M120871
COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)
(Previous names: COX17 (yeast) homolog, cytochrome c oxidase assembly protein, COX17 homolog, cytochrome c oxidase assembly protein (yeast), COX17 homolog, cytochrome c oxidase assembly protein (S. cerevisiae) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases &
Descriptions
for COX17

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases
MGC104397 2
MGC117386 2
Descriptions
COX17 (yeast) homolog, cytochrome c oxidase assembly
protein 1
COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) 2
COX17 homolog, cytochrome c oxidase assembly protein 2
COX17 homolog, cytochrome c oxidase assembly protein (S.
cerevisiae) 1
COX17 homolog, cytochrome c oxidase assembly protein
(yeast) 1
human homolog of yeast mitochondrial copper recruitment 2
External Ids
HGNC: 22641
Entrez Gene: 100632
UniProtKB: Q140613
Ensembl: ENSG000001384957
Search outside databases for aliases for COX17 gene

Previous GC identifers: GC03M116001 GC03M119017 GC03M120642 GC03M120709

Summaries
for COX17

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

 EntrezGene summary for COX17:
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]

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

Genomic Location
for COX17

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

 Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the COX17 gene  

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)

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M120871:     (about GC identifiers)

Start:
 120,871,062 bp from pter
End:
 120,878,933 bp from pter
Size:
 7,872 bases
Orientation:
 minus strand
RefSeq DNA sequence:
NC_000003.10  NT_005612.15  

Proteins
for COX17

(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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
Subcellular location: Mitochondrion intermembrane space (By similarity)
PDB structure from and Proteopedia :
2RN9 (3D)    2RNB (3D)    
Secondary accessions: Q3MHD6

REFSEQ proteins: NP_005685.1  

ENSEMBL proteins: 
ENSP00000261070 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (COX17)
Human Recombinant Proteins from Abnova (COX17)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm TAS9050918
GO:0005739 mitochondrion IEA--
GO:0005758 mitochondrial intermembrane space IEA--
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Antibodies for COX17: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for COX17
Browse R&D Systems for Antibodies
Antibodies from Abcam (COX17), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (COX17)
Novus Biologicals Antibodies for COX17

Assays for COX17: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

Protein Domains/
Families
for COX17

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro domain/family:
 IPR007745 Cyt_c_oxidase_Cu-chaperone


   GeneDecks  COX17 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q14061

ProtoNet protein and cluster: Q14061

1 Blocks protein family: IPB007745 Cytochrome C oxidase copper chaperone

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

Gene Function
for COX17

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section
Inhib.
RNA:		Browse Invitrogen for RNAi
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (COX17)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005694

              Applied Biosystems Silencer® siRNAs for COX17

              Sigma-Aldrich siRNA for COX17  
                     Sigma-Aldrich shRNA for COX17  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for COX17
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005694
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005694
                                 untagged cDNA clone in CMV expression vector: NM_005694 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_005694

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)

4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cox17):

cellularembryogenesishomeostasis/metabolismlethality-prenatal/perinatal

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016531 copper chaperone activity IEA--
GO:0046872 metal ion binding IEA--
About this table

Pathways & Interactions
for COX17

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


2 Sigma-Aldrich "Your Favorite Gene" Pathways for  COX17  (Your Favorite Gene powered by Ingenuity) 
 Mitochondrial Dysfunction
 Oxidative Phosphorylation

   GeneDecks  COX17 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for COX17):
 hsa00190 Oxidative phosphorylation

   GeneDecks  COX17 for the pathways selected above  
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5/19 Interacting proteins for COX17 (ENSP000002610703 Q140612) via UniProtKB, MINT, and/or STRING (see all 19 )
InteractantInteraction Details
GeneCardExternal ID(s)
C14orf1Q9UKR52MINT-64170
COPS6Q7L5N12MINT-64167
KATNAL1Q9BW622MINT-66362
PPBPP027752MINT-64163
TP53P046372MINT-64164
About this table

2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS9050918
GO:0006825 copper ion transport TAS9050918
About this table

Drugs & Compounds
for COX17

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for COX17
2 Novoseek chemical compound relationships for COX17 gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
copper 65.96 18 9050918 (2), 15955185 (2), 10982038 (2), 14972329 (1) (see all 9)
superoxide 13.51 3 14729672 (1), 15239669 (1)
About this table


Transcripts
for COX17

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section
Inhib.
RNA:		Browse Invitrogen for RNAi
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (COX17)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005694

              Sigma-Aldrich siRNA for COX17  
                     Sigma-Aldrich shRNA for COX17  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_005694  

REFSEQ mRNAs for COX17 gene: 

NM_005694.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_005694  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005694
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005694
                                 untagged cDNA clone in CMV expression vector: NM_005694 

Additional cDNA sequence: 

AK312143.1 BC010933.1 BC105280.1 BC108317.1 L77701.1 

15 DOTS entries:

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

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

AI459181 BM719827 AI140668 NM_022135 AI741753 BU783975 BE644634 BQ639694 
AW470042 N75018 BM828806 BM510677 AI361675 W05763 AI093009 AA897414 
F26605 BX094462 BM720367 AI418437 F31554 AW028042 AI190976 AI567443 

highest scoring ESTs for COX17:

AA099855 AA148679 AA307930 AA468732 AA483726 AA532663 AA535615 AA564076 AA569132 AA614859 

Unigene Cluster for COX17:

COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)
Hs.534383  [show with all ESTs]
Unigene Representative Sequence: BU506590


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for COX17

1 Ensembl transcript including schematic representation:
ENST00000261070  

Expression
for COX17

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

COX17 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for COX17

1 / 2 / 3

4 probe-sets matching COX17 gene


Affymetrix
probe-set		 Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

40427_at2, 3 U95-A 2 1.00 0.50 1.00 1.00 AA149486 0.60 0.67 0.63 1

203880_at2, 3 U133-A 2 1.00 0.64 -- -- NM_005694 0.60 0.83 0.73 1

1558346_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

203880_at2 U133Plus2 2 1.00 0.64 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: AGAGCCCTAG

SOURCE GeneReport for Unigene cluster: Hs.534383

Expression variation in blood from EXPOLDB for COX17

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

Orthologs
for COX17

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section
Orthologs for COX17 gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity		 NCBI accessions
dog
(Canis familiaris)		 COX171   -- COX17 homolog, cytochrome c oxidase assembly protein more 90.48(n)
90.48(a)		 503668  NM_001012736.1  NP_001012754.1 
chimpanzee
(Pan troglodytes)		 LOC7406061   -- similar to COX17 98.41(n)
95.24(a)		 740606  XM_001149835.1  XP_001149835.1 
cow
(Bos taurus)		 MGC1280361   -- similar to COX17 homolog, cytochrome c oxidase assembly more 88.89(n)
90.48(a)		 613710  XM_872678.2  XP_877771.2 
rat
(Rattus norvegicus)		 Cox171   -- cytochrome c oxidase, subunit XVII assembly protein more 89.42(n)
92.06(a)		 89786  NM_053540.1  NP_445992.1 
mouse
(Mus musculus)		 Cox171, 5 165
 cytochrome c oxidase, subunit XVII assembly protein more1, 5 87.83(n)1
92.06(a)1		 128561  NM_001017429.21  NP_001017429.11 
 AA1680355  AB0473235  (see all 15)
About this table        Species with no ortholog for COX17

ENSEMBL Gene Tree for COX17

Paralogs
for COX17

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for COX17 gene
ENSG000002051052  

SNPs/Variants
for COX17

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/68 NCBI SNPs in COX17 are shown (see all 68 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 38)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 3 posSequenceRecsAA
Chg		TypeMoreRecsAllele
freq		PopTotal
sample		More
------------
--
rs46880261,2
A120879886(+) gcccgA/Ggtaat 1 -- ng310--------
rs5490011,2
A,C,F,H120877901(+) TTATAG/CCACTA 1 -- int18Minor allele frequency- C:0.07MN EU EA WA NA 734
rs5234761,2
C,F,H,O120878352(+) TACATC/GTTCGG 1 -- int110Minor allele frequency- G:0.49EA NA EU WA 614
rs67944841,2
A,C,F,H120872909(+) TTGAGG/ATACAA 1 -- int18Minor allele frequency- A:0.35EA NA EU WA 636
rs37721341,2
A,C,F,H120871356(-) AAATGC/TTGATT 1 -- int15Minor allele frequency- T:0.41EA EU WA 1904
rs68038141,2
A,C,F,H120874113(+) GTTGCA/GTCTTT 1 -- int16Minor allele frequency- G:0.26EU EA WA NA 584
--
rs119232231,2
A,C,F,H120873280(+) AAGGCG/ATGAAG 1 -- int14Minor allele frequency- A:0.29EU EA WA 418
rs22932351,2
A,C,F,H120876858(-) TACCCG/ATGTTT 1 -- int111Minor allele frequency- A:0.08EU EA WA NA 974
rs67945791,2
A,C,F,H120872952(+) ACAAAG/CGTTTT 1 -- int17Minor allele frequency- C:0.48NA EU EA WA 524
rs64385391,2
A,C,F,H120874002(+) TTTTTT/ATTTAA 1 -- int16Minor allele frequency- A:0.02EU EA NA 442
About this table

HapMap Linkage Disequilibrium images for COX17 (up to first 250kb)

Disorders & Mutations
for COX17

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

 OMIM: 604813

Medical News
for COX17

(Possibly Related Articles in Doctor's Guide)
About This Section

   --

Publications
for COX17

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/31 PubMed articles for COX17 gene (see all 31 ):

Search for COX17

(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)

Genome Databases showing COX17

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

Other Databases showing COX17

(According to HUGE)
About This Section

   --

Specialized Databases showing COX17

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
ATLAS Chromosomes in Cancer entry for COX17 Genetics and Cytogenetics in Oncology and Haematology

Licensable Technologies
for COX17

(Available from WIS Yeda, Salk, Tufts)
About This Section

  --

Services
for COX17

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for COX17:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for COX17-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
 Millipore Immunoassay Services
 Millipore Target Screening & Profiling Services


 Predesigned and custom siRNAs for COX17 Antibodies for COX17
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for COX17 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Recombinant & Natural Proteins  

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 Recombinant Proteins
(COX17)
 Antibodies (COX17)
 Search OriGene for COX17
 Search Tocris compounds for COX17




 Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
 Antibodies for COX17

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