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COA4 Gene

protein-coding   GIFtS: 37
GCID: GC11M073584

Cytochrome C Oxidase Assembly Factor 4 Homolog (S. Cerevisiae)

(Previous name: coiled-coil-helix-coiled-coil-helix domain containing 8)
(Previous symbol: CHCHD8)
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(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 4 Homolog (S. Cerevisiae)1 2     Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 82 3
CHCHD81 2 3 5     E2-Induced Gene 2 Protein2 3
E2IG22 3 5     CMC32
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 81 2     Cytochrome C Oxidase Assembly Factor 4 Homolog, Mitochondrial2

External Ids:    HGNC: 246041   Entrez Gene: 512872   Ensembl: ENSG000001819247   OMIM: 6080165   UniProtKB: Q9NYJ13   

Export aliases for COA4 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 COA4 Gene:
COA4 (cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)) is a protein-coding gene.

UniProtKB/Swiss-Prot: COA4_HUMAN, Q9NYJ1
Function: Putative COX assembly factor (By similarity)




(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_000011.9  NC_018922.2  NT_167190.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for COA4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOA4 promoter sequence
   Search Chromatin IP Primers for COA4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COA4


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

Entrez Gene cytogenetic band: 11q13.4   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

COA4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COA4 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M073584:  view genomic region     (about GC identifiers)

Start:
73,583,712 bp from pter      End:
73,588,033 bp from pter
Size:
4,322 bases      Orientation:
minus 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: COA4_HUMAN, Q9NYJ1 (See protein sequence)
Recommended Name: Cytochrome c oxidase assembly factor 4 homolog, mitochondrial  
Size: 87 amino acids; 10134 Da
Secondary accessions: B2RAA0 Q69YU4
Alternative splicing: 2 isoforms:  Q9NYJ1-1   Q9NYJ1-2   

Explore the universe of human proteins at neXtProt for COA4: NX_Q9NYJ1

Explore proteomics data for COA4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COA4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057649.2  
    ENSEMBL proteins: 
     ENSP00000347919   ENSP00000443795   ENSP00000440756   ENSP00000437772  

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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
    CHCHD: Coiled-coil-helix-coiled-coil-helix domain containing

    1 InterPro protein domain:
     IPR010625 CHCH

    Graphical View of Domain Structure for InterPro Entry Q9NYJ1

    ProtoNet protein and cluster: Q9NYJ1

    UniProtKB/Swiss-Prot: COA4_HUMAN, Q9NYJ1
    Similarity: Belongs to the COA4 family
    Similarity: Contains 1 CHCH domain


    Find genes that share domains with COA4           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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COA4_HUMAN, Q9NYJ1
    Function: Putative COX assembly factor (By similarity)
    Induction: Up-regulated by estrogen

    Phenotypes:
         1 GenomeRNAi human phenotype for COA4:

     Increased gamma-H2AX phosphory 

         1 MGI phenotypic allele for Coa4 (no phenotypes)

    Find genes that share phenotypes with COA4           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COA4
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    miRTarBase miRNAs that target COA4:
    hsa-mir-671-5p (MIRT039267), hsa-mir-26b-5p (MIRT030302)

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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
    COA4_HUMAN, Q9NYJ1: Mitochondrion (By similarity)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with COA4           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 COA4
    Interactions:

        Search GeneGlobe Interaction Network for COA4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for COA4 (ENSP000003479194) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TIMM21ENSP000001695514STRING: ENSP00000169551
    BIN3ENSP000002764164STRING: ENSP00000276416
    SURF1ENSP000003610424STRING: ENSP00000361042
    AMPHENSP000003486024STRING: ENSP00000348602
    BIN1ENSP000003167794STRING: ENSP00000316779
    About this table

    (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 COA4



    (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 COA4 gene: 
    NM_016565.2  

    Unigene Cluster for COA4:

    Cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)
    Hs.475387  [show with all ESTs]
    Unigene Representative Sequence: AK097302
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355693(uc001ouj.3) ENST00000545127 ENST00000541455 ENST00000537289
    ENST00000544575 ENST00000537581
    miRNA
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat COA4
      QuantiFast Probe-based Assays in human, mouse, rat COA4

    Additional mRNA sequence: 

    AF242180.1 AK000434.1 AK097302.1 AK314104.1 AL359618.1 BC106036.1 

    7 DOTS entries:

    DT.100775551  DT.100775562  DT.91684604  DT.97845035  DT.100775549  DT.120754818  DT.95167585 

    Selected AceView cDNA sequences (see all 188):

    CR609617 BQ575157 AW006108 NM_016565 BE279994 BM919164 BQ222007 BX281471 
    BQ233770 BG117823 BU186183 CA446822 BU733124 CA419195 AI536783 H94441 
    AW408192 AA506597 CB158311 AI280539 R48566 AI927555 BE279160 BU193822 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for COA4    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c
    SP1:                    -           -                     
    SP2:                    -     -     -                     
    SP3:                    -                                 
    SP4:                                -                     


    ECgene alternative splicing isoforms for COA4

    (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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    COA4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COA4 Expression
    About this image

    COA4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COA4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475387
        Custom PCR Arrays for COA4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COA4

    (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 chordates.

    Orthologs for COA4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coa41 , 5 coiled-coil-helix-coiled-coil-helix domain containing more5
    cytochrome c oxidase assembly factor 41
    86.97(n)1
    87.36(a)1
      7 (54.36 cM)5
    681851  NM_183270.21  NP_899093.11 
     1005371005 
    lizard
    (Anolis carolinensis)
    Reptilia COA46
    cytochrome c oxidase assembly factor 4 homolog (S....
    52(a)
    1 ↔ 1
    GL344128.1(5133-5405)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.328792 Xenopus laevis transcribed sequence with weak similarity more 74.19(n)    BJ062499.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BX088524.26
    coiled-coil-helix-coiled-coil-helix domain-contain...
    42(a)
    1 ↔ 1
    10(37379720-37379974) ENSDARG00000078974


    ENSEMBL Gene Tree for COA4 (if available)
    TreeFam Gene Tree for COA4 (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 COA4 (see all 62)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1999318721,2
    --73583233(+) AAAAA-/AAAG  
            
    AATAG
    1 -- int10--------
    rs1812287511,2
    --73583481(+) AGTTAA/GAGCCA 1 -- int10--------
    rs743516951,2
    F--73583598(+) AGAGGC/TTGAGG 1 -- int11Minor allele frequency- T:0.33NA 6
    rs1426252451,2
    C--73583758(+) ACTGAC/TTGAAA 1 -- ut310--------
    rs1853315711,2
    --73583843(+) AAAATA/CAAATG 1 -- ut310--------
    rs1905828191,2
    --73583933(+) TCCTGA/GTAAAT 1 -- ut310--------
    rs122783431,2
    C,H--73583961(+) GCTGAG/AAATGT 1 -- ut31 ese37Minor allele frequency- A:0.00NS EA NA 604
    rs2012729351,2
    C--73584125(+) CTTGGA/CAGGGC 1 -- ut310--------
    rs1999679201,2
    C--73584154(+) GGTTTC/GGGGTC 1 -- ut310--------
    rs2018116021,2
    --73584157(+) TTGGGG/TTCTCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for COA4 (73583712 - 73588033 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for COA4: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COA4
    DNA2.0 Custom Variant and Variant Library Synthesis for COA4

    (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: 608016    OMIM disorders: --


    Find genes that share disorders with COA4           About GenesLikeMe


    Export disorders for COA4 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 COA4 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with COA4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Effects of estrogen on global gene expression: identification of novel targets of estrogen action. (PubMed id 11085516)1, 2, 3 Charpentier A.H.... Aldaz C.M. (Cancer Res. 2000)
    2. Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family. (PubMed id 20624914)1, 3 Bestwick M....Winge D.R. (Mol. Cell. Biol. 2010)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    6. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 51287 HGNC: 24604 AceView: E2IG2 Ensembl:ENSG00000181924 euGenes: HUgn51287
    ECgene: COA4 H-InvDB: COA4

    (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 COA4 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 COA4 gene:
    Search GeneIP for patents involving COA4

    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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     Block miRNA regulation of human, mouse, rat COA4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing COA4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COA4 Predesigned siRNA for gene silencing in human, mouse, rat COA4
     QuantiFast Probe-based Assays in human, mouse, rat COA4 QuantiTect SYBR Green Assays in human, mouse, rat COA4
     Custom PCR Arrays for COA4 Search Chromatin IP Primers for COA4
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     GenScript Custom Purified and Recombinant Proteins Services for COA4 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for COA4
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     Browse ESI BIO Cell Lines and PureStem Progenitors for COA4
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     SwitchGear 3'UTR luciferase reporter plasmids for COA4
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     Search ThermoFisher Antibodies for COA4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COA4
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COA4
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COA4
     LSBio Antibodies in human, mouse, rat for COA4
    Customized transgenic rodents for:
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     Search Addgene for plasmids for COA4
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      eBioscience FlowRNA Probe Sets
           
    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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