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

COX6A1 Gene

protein-coding   GIFtS: 61
GCID: GC12P120875

Cytochrome C Oxidase Subunit VIa Polypeptide 1


(Previous symbol: COX6A)
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

Aliases
Cytochrome C Oxidase Subunit VIa Polypeptide 11 2     COX6AL2 3
COX6A1 2     COX VIa-L2 3
Cytochrome C Oxidase Polypeptide VIa-Liver2 3     Cytochrome C Oxidase Subunit 6A1, Mitochondrial2
Cytochrome C Oxidase Subunit VIA-Liver2 3     Cytochrome C Oxidase Subunit VIa Homolog2

External Ids:    HGNC: 22771   Entrez Gene: 13372   Ensembl: ENSG000001117757   OMIM: 6020725   UniProtKB: P120743   

Export aliases for COX6A1 gene to outside databases

Previous GC identifers: GC12P119748 GC12P120402 GC12P120658 GC12P119287 GC12P119338 GC12P117884


(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 COX6A1 Gene:
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron
transfer from reduced cytochrome c to oxygen. It 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 the electron transfer and the nuclear-encoded subunits may function
in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit
VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is
encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid
sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32
and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. (provided by RefSeq, Jul
2008)

GeneCards Summary for COX6A1 Gene: 
COX6A1 (cytochrome c oxidase subunit VIa polypeptide 1) is a protein-coding gene. Diseases associated with COX6A1 include goldenhar syndrome, and huntington's disease, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6A2.

UniProtKB/Swiss-Prot: CX6A1_HUMAN, P12074
Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal
oxidase in mitochondrial electron transport

Gene Wiki entry for COX6A1 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_000012.11  NC_018923.2  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COX6A1 gene promoter:
         RFX1   Pbx1a   p53   AML1a   Olf-1   MIF-1   Tal-1beta   E47   Max   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOX6A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COX6A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COX6A1


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

Entrez Gene cytogenetic band: 12q24.2|12q24.2   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24

COX6A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COX6A1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P120875:  view genomic region     (about GC identifiers)

Start:
120,875,893 bp from pter      End:
120,878,545 bp from pter
Size:
2,653 bases      Orientation:
plus 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: CX6A1_HUMAN, P12074 (See protein sequence)
Recommended Name: Cytochrome c oxidase subunit 6A1, mitochondrial precursor  
Size: 109 amino acids; 12155 Da
Subcellular location: Mitochondrion inner membrane
Sequence caution: Sequence=CAA33392.1; Type=Frameshift; Positions=17;
Secondary accessions: B2R500 O43714 Q32Q37

Explore the universe of human proteins at neXtProt for COX6A1: NX_P12074

Explore proteomics data for COX6A1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12074

  • COX6A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COX6A1 Protein Expression
    REFSEQ proteins: NP_004364.2  
    ENSEMBL proteins: 
     ENSP00000229379  
    Reactome Protein details: P12074
    Human Recombinant Protein Products for COX6A1: 
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    Novus Biologicals COX6A1 Protein
    Novus Biologicals COX6A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005751mitochondrial respiratory chain complex IV IEA--

    COX6A1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for COX6A1 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comIV: Mitochondrial respiratory chain complex / Complex IV

    2 InterPro protein domains:
     IPR018507 Cyt_c_oxidase_su6a_CS
     IPR001349 Cyt_c_oxidase_su6a

    Graphical View of Domain Structure for InterPro Entry P12074

    ProtoNet protein and cluster: P12074

    1 Blocks protein domain: IPB001349 Cytochrome c oxidase

    UniProtKB/Swiss-Prot: CX6A1_HUMAN, P12074
    Similarity: Belongs to the cytochrome c oxidase subunit 6A family


    COX6A1 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: CX6A1_HUMAN, P12074
    Function: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal
    oxidase in mitochondrial electron transport

         Genatlas biochemistry entry for COX6A1:
    cytochrome c oxidase,subunit VIa,polypeptide 1,liver specific,97.5kDa,component of the complex IV,terminal enzyme
    complex for electron transfert,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004129cytochrome-c oxidase activity IEA--
         
    COX6A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COX6A1:
     Decreased nuclei size in G2M 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cox6a1):
     behavior/neurological  craniofacial  growth/size  mortality/aging 

    COX6A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cox6a1tm1(KOMP)Wtsi for COX6A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COX6A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COX6A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COX6A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COX6A1 

    miRNA
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    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COX6A1
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    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX6A1


    (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 COX6A1 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Cardiac muscle contraction
    Cardiac muscle contraction
    4AMPK 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 COX6A1
        AMPK Enzyme Complex Pathway

    1 BioSystems Pathway for COX6A1
        Electron Transport Chain

    4        Reactome Pathways for COX6A1
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/7         Kegg Pathways  (Kegg details for COX6A1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease


    COX6A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COX6A1

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

    5/17 Interacting proteins for COX6A1 (P120743 ENSP000002293794) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    COX4I2ENSP000003652434STRING: ENSP00000365243
    COX6A2ENSP000002874904STRING: ENSP00000287490
    MT-CO1ENSP000003544994STRING: ENSP00000354499
    COX5BENSP000002584244STRING: ENSP00000258424
    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 TAS2549515
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    COX6A1 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COX6A1 (CX6A1)

    2 HMDB Compounds for COX6A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    OxygenOxygen (see all 5)7782-44-7--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about COX6A1 / CX6A1

    (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 COX6A1 gene: 
    NM_004373.3  

    Unigene Cluster for COX6A1:

    Cytochrome c oxidase subunit VIa polypeptide 1
    Hs.369624  [show with all ESTs]
    Unigene Representative Sequence: BQ433343
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000550009 ENST00000229379(uc001tyf.1) ENST00000549525

    miRNA
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    GenScript: all cDNA clones in your preferred vector: COX6A1 (NM_004373)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COX6A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COX6A1
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COX6A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX6A1

    Additional mRNA sequence: 

    AF020589.1 AK312009.1 BC007723.2 BC070186.1 BC107861.1 HE647860.1 X15341.1 

    18 DOTS entries:

    DT.450466  DT.100883248  DT.95138953  DT.92071038  DT.101955242  DT.95224370  DT.101986528  DT.95340079 
    DT.429821  DT.99980900  DT.121322895  DT.91758766  DT.121180144  DT.95138866  DT.121180237  DT.95137229 
    DT.121180194  DT.95269819 

    24/841 AceView cDNA sequences (see all 841):

    BC007723 BU730298 N90603 BM715552 BE646035 BU616130 AJ713916 AA688246 
    BM850318 BU173682 BM832749 NM_176818 BM855200 BM764738 BU957766 H65626 
    AI816091 AI749961 BF344824 BM832771 BM773513 AA385001 BM821913 BQ639853 

    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™, 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

    COX6A1 expression in normal human tissues (normalized intensities)      COX6A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGAAAA
    COX6A1 Expression
    About this image


    COX6A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
             brain/midbrain   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             hIPS1
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/ventricle   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    See COX6A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COX6A1

    SOURCE GeneReport for Unigene cluster: Hs.369624
        SABiosciences Expression via Pathway-Focused PCR Array including COX6A1: 
              Mitochondrial Energy Metabolism in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COX6A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COX6A1

    (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 and fungi.

    Orthologs for COX6A1 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cox6a11 , 5 cytochrome c oxidase, subunit VI a, polypeptide 15
    cytochrome c oxidase subunit VIa polypeptide 11
    82.41(n)1
    84.26(a)1
      5 (56.06 cM)5
    128611  NM_007748.31  NP_031774.11 
     1153456425 
    chicken
    (Gallus gallus)
    Aves COX6A11 cytochrome c oxidase subunit VIa polypeptide 1 69.5(n)
    65.09(a)
      416978  XM_415270.3  XP_415270.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Cytochrome c oxidase subunit 6A, mitochondrial
    61(a)
    1 → many
    GL343338.1(67098-69371)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia CF343832.12   -- 71.53(n)    CF343832.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cox6a11 cytochrome c oxidase subunit VIa polypeptide 1 61.22(n)
    63.46(a)
      335774  NM_001005592.1  NP_001005592.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta levy1 CG17280-PA 56.73(n)
    50.96(a)
      37728  NM_137961.2  NP_611805.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1746
    Probable cytochrome c oxidase subunit 6A, mitochon...
    24(a)
    1 → many
    III(5081724-5083007)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes COX13(YGL191W)4 Subunit VIa of cytochrome c oxidase, which is the terminal more   --   7(144808-145197) 852684  NP_011324.1 


    ENSEMBL Gene Tree for COX6A1 (if available)
    TreeFam Gene Tree for COX6A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COX6A1 gene
    COX6A22  COX6A1P22  
    2 SIMAP similar genes for COX6A1 using alignment to 2 protein entries:     CX6A1_HUMAN (see all proteins):
    COX6A1P2    COX6A2

    COX6A1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for COX6A1
    PGOHUM00000244070 PGOHUM00000235541


    (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

    10/159 SNPs in COX6A1 are shown (see all 159)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162793101,2
    C,F--117887370(+) TCAAGA/GGGAAG 1 -- ds50011Minor allele frequency- G:0.02WA 118
    rs1853287231,2
    --117887398(+) ATCTTC/TTTCCT 1 -- ds50010--------
    rs2002927841,2
    C--120873999(+) GTTTTG/TAGACC 1 -- us2k10--------
    rs1850966141,2
    --120874012(+) AGTCTC/TGCTGT 1 -- us2k10--------
    rs1897787181,2
    C--120874013(+) GTCTCA/GCTGTG 1 -- us2k10--------
    rs1812864961,2
    --120874021(+) GTGTCA/GCCCAG 1 -- us2k10--------
    rs1483678951,2
    --120874172(+) GACGGC/TGTTTC 1 -- us2k10--------
    rs116128251,2
    C,F,H--120874200(+) ggtctC/Tgaact 1 -- us2k12Minor allele frequency- T:0.33NA WA 6
    rs1852015131,2
    --120874234(+) TCTCCA/GCCTCC 1 -- us2k10--------
    rs714546421,2
    C,F--120874315(+) CAACTG/CTTGTT 1 -- us2k12Minor allele frequency- C:0.50NA 4

    HapMap Linkage Disequilibrium report for COX6A1 (120875893 - 120878545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for COX6A1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509482CNV Insertion20534489

    SABiosciences Cancer Mutation PCR Assays
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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: 602072    OMIM disorders: --

    4 diseases for COX6A1:    About MalaCards
    goldenhar syndrome    huntington's disease    parkinson's disease    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for COX6A1:
    Goldenhar syndrome

    COX6A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): COX6A1
    Human Genome Epidemiology (HuGE) Navigator: COX6A1 (1 document)

    Export disorders for COX6A1 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 COX6A1 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with COX6A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (2006)
    3. 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)
    4. Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids. (PubMed id 9284905)1, 3 Hey Y....Varley J.M. (1997)
    5. Human liver protein map: a reference database established by microsequencing and gel comparison. (PubMed id 1286669)1, 2 Hochstrasser D.F.... Hughes G.J. (1992)
    6. Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase. (PubMed id 2549515)1, 2 Fabrizi G.M....Schon E.A. (1989)
    7. Molecular evolution of cytochrome c oxidase: rate variation among subunit VIa isoforms. (PubMed id 9190060)1, 9 Schmidt T.R....Grossman L.I. (1997)
    8. Identification of cytochrome c oxidase subunit 6A1 as a suppressor of Bax-induced cell death by yeast-based functional screening. (PubMed id 18549809)1, 9 Eun S.Y....Seo H.G. (2008)
    9. HIV-1 Tat protein directly induces mitochondrial membr ane permeabilization and inactivates cytochrome c oxidase. (PubMed id 22419111)1 Lecoeur H....Jacotot E. (2012)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1337 HGNC: 2277 AceView: COX6A1and15E1.2 Ensembl:ENSG00000111775 euGenes: HUgn1337
    ECgene: COX6A1 Kegg: 1337 H-InvDB: COX6A1

    (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 COX6A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COX6A1 gene:
    Search GeneIP for patents involving COX6A1

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



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