Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



COX10 Gene

protein-coding   GIFtS: 63
GCID: GC17P013972

Cytochrome C Oxidase Assembly Homolog 10 (Yeast)

(Previous names: COX10 (yeast) homolog, cytochrome c oxidase assembly protein...)
Alzheimer's & Parkinson's Diseases Congress
  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

TryGeneCards Plus

Aliases
Cytochrome C Oxidase Assembly Homolog 10 (Yeast)1 2     Protoheme IX Farnesyltransferase1
Heme O Synthase1 2 3     COX10 Homolog, Cytochrome C Oxidase Assembly Protein, Heme A:
Farnesyltransferase2
Heme A: Farnesyltransferase1 2     Cytochrome C Oxidase Assembly Protein2
COX10 (Yeast) Homolog, Cytochrome C Oxidase Assembly Protein (Heme A:
Farnesyltransferase)1
     Cytochrome C Oxidase Subunit X2
COX10 Homolog, Cytochrome C Oxidase Assembly Protein, Heme A:
Farnesyltransferase (Yeast)1
     Protoheme IX Farnesyltransferase, Mitochondrial2
mitochondrial1     EC 2.5.1.-3

External Ids:    HGNC: 22601   Entrez Gene: 13522   Ensembl: ENSG000000066957   OMIM: 6021255   UniProtKB: Q128873   

Export aliases for COX10 gene to outside databases

Previous GC identifers: GC17P014338 GC17P015087 GC17P013915 GC17P014173 GC17P013913


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

TryGeneCards Plus

Entrez Gene summary for COX10 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 heme A:farnesyltransferase, which is not a
structural subunit but required for the expression of functional COX and functions in the maturation of the heme
A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the
mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine
(N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted
in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with
liability to pressure palsies) deletion. (provided by RefSeq, Jul 2008)

GeneCards Summary for COX10 Gene:
COX10 (cytochrome c oxidase assembly homolog 10 (yeast)) is a protein-coding gene. Diseases associated with COX10 include encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency, and hereditary neuropathy with liability to pressure palsy. GO annotations related to this gene include cytochrome-c oxidase activity and protoheme IX farnesyltransferase activity.

UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
Function: Converts protoheme IX and farnesyl diphosphate to heme O (By similarity)

Gene Wiki entry for COX10 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for COX10
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX10 promoter sequence
   Search Chromatin IP Primers for COX10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX10


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

Entrez Gene cytogenetic band: 17p12   Ensembl cytogenetic band:  17p12   HGNC cytogenetic band: 17p12

COX10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX10 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P013972:  view genomic region     (about GC identifiers)

Start:
13,972,719 bp from pter      End:
14,111,996 bp from pter
Size:
139,278 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887 (See protein sequence)
Recommended Name: Protoheme IX farnesyltransferase, mitochondrial precursor  
Size: 443 amino acids; 48910 Da
Secondary accessions: B2R6U5 O15334 Q969F7

Explore the universe of human proteins at neXtProt for COX10: NX_Q12887

Explore proteomics data for COX10 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COX10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001294.2  
    ENSEMBL proteins: 
     ENSP00000397750   ENSP00000261643   ENSP00000462512   ENSP00000462190   ENSP00000439494  
     ENSP00000443354  
    Reactome Protein details: Q12887

    COX10 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for COX10
    OriGene Custom MassSpec
    OriGene Custom Protein Services for COX10
    GenScript Custom Purified and Recombinant Proteins Services for COX10
    Novus Biologicals COX10 Proteins
    Novus Biologicals COX10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for COX10

    COX10 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for COX10
    OriGene Custom Antibody Services for COX10
    Novus Biologicals COX10 Antibodies
    Abcam antibodies for COX10
    Cloud-Clone Corp. Antibodies for COX10
    ThermoFisher Antibody for COX10
    LSBio Antibodies in human, mouse, rat for COX10

    COX10 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COX10
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COX10
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for COX10
    Cloud-Clone Corp. CLIAs for COX10


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

    TryGeneCards Plus
    HGNC Gene Families:
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    3 InterPro protein domains:
     IPR006369 Protohaem_IX_farnesylTrfase
     IPR016315 Protohaem_IX_farnesylTrfase_mt
     IPR000537 UbiA_prenyltransferase

    Graphical View of Domain Structure for InterPro Entry Q12887

    ProtoNet protein and cluster: Q12887

    1 Blocks protein domain: IPB000537 UbiA prenyltransferase

    UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
    Similarity: Belongs to the UbiA prenyltransferase family


    COX10 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COX10_HUMAN, Q12887
    Function: Converts protoheme IX and farnesyl diphosphate to heme O (By similarity)

         Genatlas biochemistry entry for COX10:
    heme A

         Enzyme Number (IUBMB): EC 2.5.1.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129contributes to cytochrome-c oxidase activity IMP12928484
    GO:0004311farnesyltranstransferase activity TAS8078902
    GO:0004659prenyltransferase activity ----
    GO:0008495protoheme IX farnesyltransferase activity IEA--
         
    COX10 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cox10):
     behavior/neurological  cellular  growth/size/body  homeostasis/metabolism  mortality/aging 
     muscle  nervous system  skeleton 

    COX10 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COX10
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COX10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COX10

    miRNA
    Products:
        
    miRTarBase miRNAs that target COX10:
    hsa-let-7e-5p (MIRT051700), hsa-mir-19b-3p (MIRT031141), hsa-mir-130b-3p (MIRT020193), hsa-mir-98-5p (MIRT027567)

    Block miRNA regulation of human, mouse, rat COX10 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate COX10:
    hsa-miR-203 hsa-miR-149 hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOX10 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COX10
    Predesigned siRNA for gene silencing in human, mouse, rat COX10

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COX10

    Clone
    Products:
         
    OriGene clones in human, mouse for COX10 (see all 6)
    OriGene ORF clones in mouse, rat for COX10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COX10 (NM_001303)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX10

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for COX10
    Browse ESI BIO Cell Lines and PureStem Progenitors for COX10 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX10


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    COX10_HUMAN, Q12887: Mitochondrion membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    cytosol1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IC14607829
    GO:0005743mitochondrial inner membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane ----

    COX10 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for COX10 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of porphyrins
    Metabolism of porphyrins0.56
    Heme biosynthesis0.00
    Porphyrin and chlorophyll metabolism0.56
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.64
    4AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for COX10
        AMPK Enzyme Complex Pathway

    1 Reactome Pathway for COX10
        Heme biosynthesis


    3 Kegg Pathways  (Kegg details for COX10):
        Oxidative phosphorylation
    Porphyrin and chlorophyll metabolism
    Metabolic pathways


    COX10 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including COX10: 
              Mitochondria in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COX10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for COX10 (Q128873 ENSP000002616434) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COX11Q9Y6N13, ENSP000002993354I2D: score=2 STRING: ENSP00000299335
    COX15Q7KZN93, ENSP000000161714I2D: score=2 STRING: ENSP00000016171
    SURF1Q155263, ENSP000003610424I2D: score=2 STRING: ENSP00000361042
    MT-CO1P003953, ENSP000003544994I2D: score=1 STRING: ENSP00000354499
    HSP90AA1P079003I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000266mitochondrial fission IEA--
    GO:0006123mitochondrial electron transport, cytochrome c to oxygen IC12928484
    GO:0006778porphyrin-containing compound metabolic process TAS--
    GO:0006783heme biosynthetic process TAS--
    GO:0006784heme a biosynthetic process IMP12928484

    COX10 for ontologies           About GeneDecksing



    (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)
    About This Section

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

    Browse Tocris compounds for COX10

    1 HMDB Compound for COX10    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for COX10 gene: 
    NM_001303.3  

    Unigene Cluster for COX10:

    Cytochrome c oxidase assembly homolog 10 (yeast)
    Hs.462278  [show with all ESTs]
    Unigene Representative Sequence: NM_001303
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000429152 ENST00000261643(uc002gof.4 uc010vvs.2 uc010vvt.2)
    ENST00000581931 ENST00000580561 ENST00000536205 ENST00000537334

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COX10 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate COX10:
    hsa-miR-203 hsa-miR-149 hsa-miR-342-5p
    SwitchGear 3'UTR luciferase reporter plasmidCOX10 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COX10
    Predesigned siRNA for gene silencing in human, mouse, rat COX10
    Clone
    Products:
         
    OriGene clones in human, mouse for COX10 (see all 6)
    OriGene ORF clones in mouse, rat for COX10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COX10 (NM_001303)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX10
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for COX10
    OriGene qSTAR qPCR primer pairs in human, mouse for COX10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX10
      QuantiTect SYBR Green Assays in human, mouse, rat COX10
      QuantiFast Probe-based Assays in human, mouse, rat COX10

    Additional mRNA sequence: 

    AK294213.1 AK295925.1 AK312718.1 BC000060.2 BC006394.2 BT006985.1 U09466.1 

    3 DOTS entries:

    DT.115568  DT.40116495  DT.91764152 

    Selected AceView cDNA sequences (see all 157):

    BE886560 BQ050769 BM759715 AA181301 AI915304 BM833200 AI332955 AA465683 
    BM839014 BM836347 AU130428 BM793470 AI355181 BG251989 BM721108 AU132781 
    AA573511 NM_001303 AI269656 AI362895 AI278418 BC000060 AA724483 BM931766 

    GeneLoc Exon Structure


    (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)
    About This Section

    TryGeneCards Plus

    COX10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAATGGCT
    COX10 Expression
    About this image


    COX10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    COX10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COX10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.462278
        Pathway & Disease-focused RT2 Profiler PCR Array including COX10: 
              Mitochondria in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for COX10
    OriGene qSTAR qPCR primer pairs in human, mouse for COX10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX10
    QuantiTect SYBR Green Assays in human, mouse, rat COX10
    QuantiFast Probe-based Assays in human, mouse, rat COX10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX10

    (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

    TryGeneCards Plus

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

    Orthologs for COX10 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox101 , 5 COX10 homolog, cytochrome c oxidase assembly protein, more5
    cytochrome c oxidase assembly protein 101
    81.37(n)1
    82.35(a)1
      11 (39.47 cM)5
    703831  NM_178379.31  NP_848466.11 
     639626275 
    chicken
    (Gallus gallus)
    Aves COX101 COX10 homolog, cytochrome c oxidase assembly protein, more 72.79(n)
    72.06(a)
      417329  NM_001030700.1  NP_001025871.1 
    lizard
    (Anolis carolinensis)
    Reptilia COX106
    cytochrome c oxidase assembly homolog 10 (yeast)
    70(a)
    1 ↔ 1
    2(106956463-107110230)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.37272 Xenopus laevis transcribed sequence with moderate similarity more 78.48(n)    BG579071.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb18a032 Transcribed sequence with moderate similarity to protein more 75.87(n)    CK027565.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG50371 , 3 protoheme IX farnesyltransferase3
    CG50371
    58(a)3
    60.43(n)1
    59.92(a)1
      31D93
    343941  NM_135538.31  NP_609382.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y46G5A.23
    CELE_Y46G5A.21
    CELE_Y46G5A.21 52(a)3
    53.53(n)1
    47.02(a)1
      II(12681627-12685676)3
    1748991  NM_064307.51  NP_496708.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COX10(YPL172C)4 Heme A:farnesyltransferase, catalyzes the first step more   --   16(225741-224353) 855931  NP_015153.1 


    ENSEMBL Gene Tree for COX10 (if available)
    TreeFam Gene Tree for COX10 (if available)

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

    TryGeneCards Plus
    Paralogs for COX10 gene

    COX10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COX10
    PGOHUM00000238353


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for COX10 (see all 2801)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945561,2,,4
    CMitochondrial complex IV deficiency (MT-C4D)4 pathogenic113958628(+) CAGACC/TGCTGG 2 P L mis10--------
    VAR_0265624
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0265622 T K mis40--------
    VAR_0265654
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0265652 D G mis40--------
    VAR_0265664
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0265662 D V mis40--------
    VAR_0265634
    Mitochondrial complex IV deficiency (MT-C4D)4--see VAR_0265632 N K mis40--------
    rs1048945551,2
    Cpathogenic113900925(+) TGGGAA/CAGGCC 2 K T mis10--------
    rs1048945601,2
    Cpathogenic113900950(+) GCCAAA/CTCCAT 2 K N mis10--------
    rs1048945571,2
    Cpathogenic114005627(+) TGAAGA/G/TCTACT 3 D G V mis10--------
    rs1174665411,2
    C,F--13866185(+) AGGCTG/ACCAAG 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs754245671,2
    F--13866247(+) CTTAGG/CTGAGT 1 -- us2k11Minor allele frequency- C:0.08NA 120

    HapMap Linkage Disequilibrium report for COX10 (13972719 - 14111996 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for COX10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675659CNV Deletion23128226
    esv2657336CNV Deletion23128226
    nsv436740CNV Insertion17901297
    nsv907693CNV Loss21882294
    nsv9495CNV Loss18304495
    nsv510699CNV Loss20534489
    essv14935CNV CNV17122850
    dgv927e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): COX10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COX10
    DNA2.0 Custom Variant and Variant Library Synthesis for COX10

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

    TryGeneCards Plus
    OMIM gene information: 602125   
    OMIM disorders: 220110  256000  
    UniProtKB/Swiss-Prot: COX10_HUMAN, Q12887
  • Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory
    chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease
    affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver
    dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and
    mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal
    death. A subset of patients manifest Leigh syndrome. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • Selected diseases for COX10 (see all 27):    
    About MalaCards
    encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome c oxidase deficiency    hereditary neuropathy with liability to pressure palsy    hereditary neuropathies    hereditary neuropathy with liability to pressure palsies
    cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1    leigh syndrome with cardiomyopathy    leigh syndrome with leukodystrophy    neuropathy
    tooth disease    charcot-marie-tooth disease    mitochondrial disorders    hypotonia
    myopathy    hypertrophic cardiomyopathy    mental retardation    tonsillitis
    hypoxia    alzheimer's disease    tuberculosis    hepatitis

    1 disease from the University of Copenhagen DISEASES database for COX10:
    Leigh disease

    COX10 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for COX10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cytochrome c oxidase deficiency 93.3 2 10767350 (1), 16103131 (1)
    charcot-marie-tooth disease 75.3 1 9403059 (1)
    mitochondrial diseases 73.8 1 16103131 (1)
    myopathy 55.1 1 16103131 (1)

    Genetic Association Database (GAD): COX10
    Human Genome Epidemiology (HuGE) Navigator: COX10 (2 documents)

    Export disorders for COX10 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

    TryGeneCards Plus

    PubMed articles for COX10 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with COX10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure and expression of the human heme A:farnesyltransferase (COX10) gene. (PubMed id 9177788)1, 2, 3, 9 Murakami T.... Lupski J.R. (Genomics 1997)
    2. Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency. (PubMed id 12928484)1, 2, 3 Antonicka H.... Shoubridge E.A. (Hum. Mol. Genet. 2003)
    3. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency. (PubMed id 10767350)1, 2, 9 Valnot I....Rotig A. (Hum. Mol. Genet. 2000)
    4. Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant. (PubMed id 8078902)1, 2, 9 Glerum M.D. and Tzagoloff A. (Proc. Natl. Acad. Sci. U.S.A. 1994)
    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. Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease. (PubMed id 19826901)1, 4 Vitali M....Finazzi D. (J Neural Transm 2009)
    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. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. (PubMed id 9285799)1, 9 Reiter L.T....Lupski J.R. (Hum. Mol. Genet. 1997)
    9. The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene. (PubMed id 9403059)1, 9 Kennerson M.L....Nicholson G.A. (Genomics 1997)
    10. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. (PubMed id 15455402)1, 9 Coenen M.J....Smeitink J.A. (Ann. Neurol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    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

    TryGeneCards Plus
    Entrez Gene: 1352 HGNC: 2260 AceView: COX10 Ensembl:ENSG00000006695 euGenes: HUgn1352
    ECgene: COX10 Kegg: 1352 H-InvDB: COX10

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for COX10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COX10[genesymbol]

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

    TryGeneCards Plus
    Patent Information for COX10 gene:
    Search GeneIP for patents involving COX10

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for COX10   OriGene RNAi products in human, mouse, rat for COX10  
     OriGene qPCR primer pairs and template standards for COX10   OriGene Protein Over-expression Lysate for COX10  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for COX10  
     OriGene qSTAR qPCR primer pairs in human, mouse for COX10   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for COX10   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for COX10   OriGene Custom Protein Services for COX10  

     
     
     Block miRNA regulation of human, mouse, rat COX10 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing COX10
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COX10 Predesigned siRNA for gene silencing in human, mouse, rat COX10
     QuantiFast Probe-based Assays in human, mouse, rat COX10 QuantiTect SYBR Green Assays in human, mouse, rat COX10
     PCR Arrays including human, mouse, rat COX10 Search Chromatin IP Primers for COX10
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COX10  Search GeneGlobe Interaction Network for COX10
     Search Regulatory tfbs for COX10
     GenScript Custom Purified and Recombinant Proteins Services for COX10 GenScript cDNA clones with any tag delivered in your preferred vector for COX10
     GenScript Custom Assay Services for COX10 GenScript Custom overexpressing Cell Line Services for COX10
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for COX10
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     COX10 antibodies
     COX10 proteins
     COX10 lysates
     Antibodies for COX10
     See all of Abcam's Antibodies, Kits and Proteins for COX10
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for COX10
     Antibodies for COX10
     ELISAs for COX10
     CLIAs for COX10



     Browse ESI BIO Cell Lines and PureStem Progenitors for COX10
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX10
     SwitchGear 3'UTR luciferase reporter plasmids for COX10
     SwitchGear Promoter luciferase reporter plasmids for COX10
     ThermoFisher Antibody for COX10
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX10
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COX10
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COX10
     LSBio Antibodies in human, mouse, rat for COX10
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      COX10 gene at Home site.
    Version: 3.12.142 28 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4