Human Gene COA3 (ENST00000328434.8_7) from GENCODE V47lift37

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Description: cytochrome c oxidase assembly factor 3 (from RefSeq NM_001040431.3)
Gencode Transcript: ENST00000328434.8_7
Gencode Gene: ENSG00000183978.8_11
Transcript (Including UTRs)
Position: hg19 chr17:40,949,643-40,950,722 Size: 1,080 Total Exon Count: 2 Strand: -
Coding Region
Position: hg19 chr17:40,950,079-40,950,699 Size: 621 Coding Exon Count: 2

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species
GO Annotations	mRNA Descriptions	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr17:40,949,643-40,950,722)			mRNA (may differ from genome)		Protein (106 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid 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 D000082 Acetaminophen D002994 Clofibrate D003300 Copper D019327 Copper Sulfate D016572 Cyclosporine D003993 Dibutyl Phthalate D006830 Hydralazine D013749 Tetrachlorodibenzodioxin D014635 Valproic Acid C018021 cobaltous chloride more ... click here to view the complete list

Common Gene Haplotype Alleles


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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


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-4.10	23	-0.178	Picture	PostScript	Text
3' UTR	-121.50	436	-0.279	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


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details		Gene Details
Gene Sorter	Gene Sorter		Gene Sorter
	RGD	Ensembl

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, ENST00000328434.1, ENST00000328434.2, ENST00000328434.3, ENST00000328434.4, ENST00000328434.5, ENST00000328434.6, ENST00000328434.7, HSPC009, MITRAC12, NM_001040431, Q9Y2R0, uc317smp.1, uc317smp.2 UCSC ID: ENST00000328434.8_7 RefSeq Accession: NM_001040431.3 Protein: Q9Y2R0 (aka COA3_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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