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COA6 Gene

protein-coding   GIFtS: 40
GCID: GC01P234510

Cytochrome C Oxidase Assembly Factor 6 Homolog (S. Cerevisiae)

(Previous name: chromosome 1 open reading frame 31)
(Previous symbol: C1orf31)
  Search for COA6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome C Oxidase Assembly Factor 6 Homolog (S. Cerevisiae)1 2
C1orf311 2 3 5
Chromosome 1 Open Reading Frame 311
Cytochrome C Oxidase Assembly Factor 6 Homolog2

External Ids:    HGNC: 180251   Entrez Gene: 3887532   Ensembl: ENSG000001682757   OMIM: 6147725   UniProtKB: Q5JTJ33   

Export aliases for COA6 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for COA6 Gene:
COA6 (cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include cytochrome-c oxidase activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for COA6
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for COA6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COA6


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

Entrez Gene cytogenetic band: 1q42.2   Ensembl cytogenetic band:  1q42.2   HGNC cytogenetic band: 1q42.2

COA6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COA6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P234510:  view genomic region     (about GC identifiers)

Start:
234,509,202 bp from pter      End:
234,519,795 bp from pter
Size:
10,594 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COA6_HUMAN, Q5JTJ3 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly factor 6 homolog  
Size: 125 amino acids; 14116 Da
Subunit: Interacts with COA1
Sequence caution: Sequence=AAH25793.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH25793.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Secondary accessions: Q5JTJ2 Q5JTJ4 Q8TA88
Alternative splicing: 3 isoforms:  Q5JTJ3-1   Q5JTJ3-2   Q5JTJ3-3   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for COA6: NX_Q5JTJ3

Explore proteomics data for COA6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys96, Lys110
  • Modification sites at PhosphoSitePlus

  • See COA6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001013003.1  NP_001193570.1  

    ENSEMBL proteins: 
     ENSP00000355574   ENSP00000355572   ENSP00000355571  

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

    1 InterPro protein domain:
     IPR003213 Cyt_c_oxidase_su6B

    Graphical View of Domain Structure for InterPro Entry Q5JTJ3

    ProtoNet protein and cluster: Q5JTJ3

    1 Blocks protein domain: IPB003213 Cytochrome oxidase c

    UniProtKB/Swiss-Prot: COA6_HUMAN, Q5JTJ3
    Similarity: Belongs to the cytochrome c oxidase subunit 6B family


    Find genes that share domains with COA6           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004129cytochrome-c oxidase activity IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with COA6           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COA6
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    miRTarBase miRNAs that target COA6:
    hsa-mir-16-5p (MIRT031801)

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    SwitchGear 3'UTR luciferase reporter plasmidCOA6 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    COA6_HUMAN, Q5JTJ3: Mitochondrion (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion ISS--

    Find genes that share ontologies with COA6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COA6
    Interactions:

        Search GeneGlobe Interaction Network for COA6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for COA6 (Q5JTJ33 ENSP000003555724) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663I2D: score=1 
    COA1ENSP000002233364STRING: ENSP00000223336
    COX5AENSP000003177804STRING: ENSP00000317780
    COX5BENSP000002584244STRING: ENSP00000258424
    COX7CENSP000002476554STRING: ENSP00000247655
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with COA6           About GenesLikeMe



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

    Browse Tocris compounds for COA6



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COA6 gene (2 alternative transcripts): 
    NM_001012985.2  NM_001206641.1  

    Unigene Cluster for COA6:

    Cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)
    Hs.23198  [show with all ESTs]
    Unigene Representative Sequence: BU595281
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366615(uc001hwb.3) ENST00000366613(uc001hwc.3) ENST00000366612

    miRNA
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat COA6
      QuantiFast Probe-based Assays in human, mouse, rat COA6

    Additional mRNA sequence: 

    BC025793.1 BC035925.1 BC052810.1 BC064905.1 BC116455.1 

    10 DOTS entries:

    DT.315689  DT.97844269  DT.100679744  DT.75180145  DT.40202447  DT.92424074  DT.100000362  DT.121416672 
    DT.87005888  DT.99926591 

    Selected AceView cDNA sequences (see all 135):

    AI284150 AW629290 BI793199 BI792923 AI034381 BQ101129 AI055823 BM684014 
    CR602593 BC064905 BI793117 AI298873 AA723815 AI582752 BM931552 BQ286606 
    AA193619 AI333589 BF732833 AA724892 AI625930 BI792853 AA394064 AW058282 

    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)
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    See probesets specificity/sensitivity at GeneAnnot
    CGAP TAG: --

    COA6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COA6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.23198
        Custom PCR Arrays for COA6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COA6

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

    Orthologs for COA6 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coa65 RIKEN cDNA 1810063B05 gene   --   8 (74.08 cM) 126422501 
    lizard
    (Anolis carolinensis)
    Reptilia COA66
    cytochrome c oxidase assembly factor 6 homolog (S....
    68(a)
    1 ↔ 1
    1(220139311-220140732)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.16512 Transcribed sequence with weak similarity to protein more 76.29(n)    BX732661.1 
    zebrafish
    (Danio rerio)
    Actinopterygii COA66
    cytochrome c oxidase assembly factor 6 homolog (S....
    52(a)
    1 ↔ 1
    4(4705393-4707866) ENSDARG00000092677
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423766
    --
    43(a)
    1 ↔ 1
    X(148909-152446)


    ENSEMBL Gene Tree for COA6 (if available)
    TreeFam Gene Tree for COA6 (if available)

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COA6 (see all 337)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1409474491,2
    --234507256(+) ATTTCC/TATAGT 1 -- us2k10--------
    rs1499470071,2
    C--234507370(+) CCCATC/TGTGGG 1 -- us2k10--------
    rs66983351,2
    C,F,H--234507382(+) GACTTC/TAAGCT 1 -- us2k116Minor allele frequency- T:0.08NS EA NA WA 2060
    rs1846351251,2
    C--234507605(+) AGACTC/TTTCTA 2 -- us2k10--------
    rs1130464421,2
    C--234507693(+) TATGGC/TTCAGT 2 -- us2k10--------
    rs1875371461,2
    --234507806(+) TGACAA/GTTATT 2 -- us2k10--------
    rs3769374871,2
    C--234507845(+) ATAAC-/TTAAGT 2 -- us2k10--------
    rs1929866211,2
    --234507850(+) CTAAGC/TATGTG 2 -- us2k10--------
    rs1848437631,2
    --234507910(+) TGGTCG/TTGTTG 2 -- us2k10--------
    rs781531811,2
    --234507912(+) GTCGTA/GTTGTT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for COA6 (234509202 - 234519795 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for COA6: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COA6
    DNA2.0 Custom Variant and Variant Library Synthesis for COA6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614772    OMIM disorders: --


    Find genes that share disorders with COA6           About GenesLikeMe


    Export disorders for COA6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for COA6 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with COA6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PubMed id 22356826)1, 2 Szklarczyk R.... Huynen M.A. (Genome Biol. 2012)
    2. Intermembrane space proteome of yeast mitochondria. (PubMed id 22984289)1, 3 VAPgtle F.N....Meisinger C. (amp 2012)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. 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)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (Sci. Transl. Med. 2012)
    7. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 388753 HGNC: 18025 AceView: C1orf31 Ensembl:ENSG00000168275 euGenes: HUgn388753
    ECgene: COA6 H-InvDB: COA6

    (According to HUGE)
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      --

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

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    NameDescription
    PharmGKB entry for COA6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COA6 gene:
    Search GeneIP for patents involving COA6

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
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     Search Addgene for plasmids for COA6
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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