Human Gene COA3 (uc002ibl.4)
  Description: Homo sapiens cytochrome c oxidase assembly factor 3 (COA3), mRNA.
RefSeq Summary (NM_001040431): This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012].
Transcript (Including UTRs)
   Position: hg19 chr17:40,949,636-40,950,743 Size: 1,108 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr17:40,950,079-40,950,699 Size: 621 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:40,949,636-40,950,743)mRNA (may differ from genome)Protein (106 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: COA3_HUMAN
DESCRIPTION: RecName: Full=Cytochrome C oxidase assembly factor 3 homolog, mitochondrial; AltName: Full=Coiled-coil domain-containing protein 56;
FUNCTION: Putative COX assembly factor (By similarity).
SUBCELLULAR LOCATION: Mitochondrion membrane; Single-pass membrane protein (By similarity).
SIMILARITY: Belongs to the COA3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: COA3
Diseases sorted by gene-association score: mitochondrial complex iv deficiency* (263)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 107.15 RPKM in Kidney - Cortex
Total median expression: 2418.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -14.9044-0.339 Picture PostScript Text
3' UTR -129.66443-0.293 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018628 - Coiled-coil_56

Pfam Domains:
PF09813 - Coiled-coil domain-containing protein 56

ModBase Predicted Comparative 3D Structure on Q9Y2R0
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0033617 mitochondrial respiratory chain complex IV assembly
GO:0070131 positive regulation of mitochondrial translation

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane


-  Descriptions from all associated GenBank mRNAs
  AK295023 - Homo sapiens cDNA FLJ50764 complete cds.
L38939 - Homo sapiens GT233 mRNA.
BC002698 - Homo sapiens coiled-coil domain containing 56, mRNA (cDNA clone MGC:3372 IMAGE:3609536), complete cds.
AF070665 - Homo sapiens chromosome 17 HSPC009 mRNA, complete cds.
AK225611 - Homo sapiens mRNA for HSPC009 variant, clone: PNC06538.
JD482115 - Sequence 463139 from Patent EP1572962.
JD173738 - Sequence 154762 from Patent EP1572962.
JD507211 - Sequence 488235 from Patent EP1572962.
JD439972 - Sequence 420996 from Patent EP1572962.
JD088037 - Sequence 69061 from Patent EP1572962.
JD276640 - Sequence 257664 from Patent EP1572962.
JD433146 - Sequence 414170 from Patent EP1572962.
AK290863 - Homo sapiens cDNA FLJ76554 complete cds.
JD293112 - Sequence 274136 from Patent EP1572962.
JD565047 - Sequence 546071 from Patent EP1572962.
JD037733 - Sequence 18757 from Patent EP1572962.
JD301996 - Sequence 283020 from Patent EP1572962.
JD168721 - Sequence 149745 from Patent EP1572962.
JD120833 - Sequence 101857 from Patent EP1572962.
JD056471 - Sequence 37495 from Patent EP1572962.
JD172773 - Sequence 153797 from Patent EP1572962.
JD157980 - Sequence 139004 from Patent EP1572962.
JD521153 - Sequence 502177 from Patent EP1572962.
DQ893448 - Synthetic construct clone IMAGE:100006078; FLH191196.01X; RZPDo839A0877D coiled-coil domain containing 56 (CCDC56) gene, encodes complete protein.
KJ893651 - Synthetic construct Homo sapiens clone ccsbBroadEn_03045 CCDC56 gene, encodes complete protein.
EU176748 - Synthetic construct Homo sapiens clone IMAGE:100011528; FLH191195.01L; RZPDo839F11255D coiled-coil domain containing 56 (CCDC56) gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K498, CCDC56, COA3_HUMAN, HSPC009, NM_001040431, NP_001035521, Q9Y2R0, uc002ibl.3
UCSC ID: uc002ibl.4
RefSeq Accession: NM_001040431
Protein: Q9Y2R0 (aka COA3_HUMAN)
CCDS: CCDS32660.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001040431.2
exon count: 2CDS single in 3' UTR: no RNA size: 808
ORF size: 321CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 842.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.