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

COA6 Gene

protein-coding   GIFtS: 39
GCID: GC01P234510

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

(Previous name: chromosome 1 open reading frame 31)
(Previous symbol: C1orf31)
  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 Assembly Factor 6 Homolog (S. Cerevisiae)1 2
C1orf311 2 3
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for COA6 Gene: 
COA6 (cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with COA6 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma. GO annotations related to this gene include cytochrome-c oxidase activity and molecular_function.


(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_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for COA6
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Mitochondrion (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5JTJ3

  • COA6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COA6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001013003.1  NP_001193570.1  

    ENSEMBL proteins: 
     ENSP00000355574   ENSP00000355572   ENSP00000355571  

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

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

    COA6 for ontologies           About GeneDecksing



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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: 
    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


    COA6 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004129cytochrome-c oxidase activity IEA--
         
    COA6 for ontologies           About GeneDecksing


    Animal Models:
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COA6

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for COA6 (Q5JTJ33 ENSP000003555724) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663I2D: score=1 
    COA1ENSP000002233364STRING: ENSP00000223336
    About this table

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

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

    COA6 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 COA6

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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 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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    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 

    24/135 AceView cDNA sequences (see all 135):

    AA724892 AA394064 AW769326 BC064905 AI246707 AA772276 BM467872 AI298873 
    AW058282 AA460405 BQ101129 BI793199 BI792853 BF732833 AI284150 BM931552 
    AA282497 BQ286606 AA380206 AA318813 AA694102 AI582752 AA258577 AI288676 

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


    See COA6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COA6

    SOURCE GeneReport for Unigene cluster: Hs.23198
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COA6 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coa61 , 5 RIKEN cDNA 1810063B05 gene5
    cytochrome c oxidase assembly factor 61
    78.06(n)1
    79.75(a)1
      8 (74.08 cM)5
    678921  NM_174987.41  NP_778152.11 
     1264225015 
    chicken
    (Gallus gallus)
    Aves COA61 cytochrome c oxidase assembly factor 6 homolog (S. more 68.35(n)
    65.82(a)
      771652  XM_001233931.1  XP_001233932.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1ORF316
    Uncharacterized protein
    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 si:ch211-258f14.51 si:ch211-258f14.5 58.12(n)
    53.85(a)
      100150991  XM_002661355.1  XP_002661401.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423766
    --
    42(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)
    About This Section
      --

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

    10/337 SNPs in COA6 are shown (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: --
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614772    OMIM disorders: --

    2 diseases for COA6:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    COA6 for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for COA6 gene, integrated from 9 sources (see all 15):
    (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 mitochond rial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PubMed id 22356826)1, 2 Szklarczyk R....Huynen M.A. (2012)
    2. Intermembrane space proteome of yeast mitochondria. (PubMed id 22984289)1, 3 Vogtle F.N....Meisinger C. (2012)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PubMed id 22277967)1 Calvo S.E.... Mootha V.K. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. 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)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)

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

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

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

    (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 COA6 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 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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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 


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