COA3 Gene
protein-coding GIFtS: 35
GCID: GC17M040950
|
|
cytochrome c oxidase assembly factor 3(Previous name: coiled-coil domain containing 56 )
(Previous symbol: CCDC56)
| |
Aliases
for COA3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cytochrome C Oxidase Assembly Factor 31 2 | | Coiled-Coil Domain Containing 561 | | CCDC561 2 3 | | Cytochrome C Oxidase Assembly Factor 3 Homolog, Mitochondrial2 | | MITRAC121 2 3 | | Cytochrome C Oxidase Assembly Protein 3 Homolog, Mitochondrial2 | | Coiled-Coil Domain-Containing Protein 562 3 | | Mitochondrial Translation Regulation Assembly Intermediate Of Cytochrome COxidase Protein Of 12 KDa3 | | HSPC0091 | | |
Export aliases for COA3 gene to outside databases |
Summaries
for COA3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for COA3:
This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggestthat the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. (provided byRefSeq, Nov 2012)
UniProtKB/Swiss-Prot: COA3_HUMAN, Q9Y2R0Function: Component of some MITRAC complex, a cytochrome c oxidase (COX) assembly intermediate complex that regulatesCOX assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly ofnuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrialrespiratory chain complex IV assembly
|
Genomic Views
for COA3 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for COA3
Other transcription factors
Search SABiosciences Chromatin IP Primers for COA3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COA3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q21 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.31COA3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M040950: view genomic region
(about GC identifiers)
Start:
|
40,947,165 bp from pter |
End:
|
40,950,722 bp from pter |
Size:
|
3,558 bases |
Orientation:
|
minus strand |
|
Proteins
for COA3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: COA3_HUMAN, Q9Y2R0 (See
protein sequence)Recommended Name: Cytochrome c oxidase assembly protein 3 homolog, mitochondrial Size: 106 amino acids; 11731 Da
Subunit: Component of some MITRAC complex
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
Secondary accessions: A8K498Explore the universe of human proteins at neXtProt for COA3: NX_Q9Y2R0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y2R0
COA3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001035521.1
ENSEMBL proteins: ENSP00000467546 ENSP00000354762
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
-- | -- | | GO:0016021 | integral to membrane |
-- | -- | | GO:0031305 | integral to mitochondrial inner membrane |
IDA | -- |
COA3 for ontologies About GeneDecksing
COA3 Antibody Products:
Assay Products for COA3: |
Protein
Domains /
Families
for COA3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
COA3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q9Y2R0ProtoNet protein and cluster: Q9Y2R0 UniProtKB/Swiss-Prot: COA3_HUMAN, Q9Y2R0Similarity: Belongs to the COA3 family |
Function
for COA3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: COA3_HUMAN, Q9Y2R0Function: Component of some MITRAC complex, a cytochrome c oxidase (COX) assembly intermediate complex that regulatesCOX assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly ofnuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrialrespiratory chain complex IV assembly
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COA3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COA3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for COA3 | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COA3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COA3 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COA3 |
1 GenomeRNAi human phenotype for COA3:
|
Pathways & Interactions
for COA3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COA3
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0033617 | mitochondrial respiratory chain complex IV assembly |
IMP | -- | | GO:0070131 | positive regulation of mitochondrial translation |
IMP | -- |
COA3 for ontologies About GeneDecksing
|
Drugs & Compounds
for COA3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for COA3
Search CenterWatch for drugs/clinical trials and news about COA3
|
Transcripts
for COA3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for COA3 gene: NM_001040431.2 Unigene Cluster for COA3: Cytochrome c oxidase assembly factor 3 Hs.16059 [show with all ESTs]Unigene Representative Sequence: AK2950232 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000586680 ENST00000328434(uc010wgz.1 uc002ibl.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COA3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COA3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript Custom all cDNA clones Services for COA3 | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for COA3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COA3 |
Additional cDNA sequence: AF070665.1 AK225611.1 AK290863.1 AK295023.1 BC002698.2 L38939.1 8 DOTS entries: DT.100883501 DT.100687790 DT.418667 DT.100883499 DT.100883503 DT.121006654 DT.91746101 DT.95189650 24/307 AceView cDNA sequences (see all 307): BM695454 CR594541 AI261952 W37505 AI660333 BM909554 BM662387 AU122748 AL524532 BI821064 AI560819 BQ787040 BU728876 AI092282 BM852772 AA595485 AW163437 BQ068314 AI185106 BU623975 AI880118 AI274908 AI186897 BU682744
GeneLoc Exon Structure
|
Expression
for COA3 gene
(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 COA3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for COA3
SOURCE GeneReport for Unigene cluster: Hs.16059
SABiosciences Custom PCR Arrays for COA3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COA3
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat COA3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COA3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COA3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COA3 |
Orthologs
for COA3 gene
(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 chordates.
Orthologs for COA3 gene from 4/9 species (see all 9) About this table
ENSEMBL Gene Tree for COA3 (if available)
TreeFam Gene Tree for COA3 (if available) |
Paralogs
for COA3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for COA3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for COA3 (40947165 - 40950722 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for COA3: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COA3 |
|
Disorders
/ Diseases
for COA3 gene
(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.)
About This Section
|
 COA3 for disorders About MalaCards
COA3 for disorders About GeneDecksing
OMIM gene information: 614775
OMIM disorders: --
Export disorders for COA3 gene to outside databases
|
Publications
for COA3 gene (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 COA3 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with COA3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function. (PubMed id 22610097)1, 3 Peralta S....Garesse R. (2012)
- 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, 3 Szklarczyk R....Huynen M.A. (2012)
- 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)
- Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
- MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation. (PubMed id 23260140)2 Mick D.U.... Rehling P. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- 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)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
|
External Searches for COA3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing COA3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing COA3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing COA3 gene(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
|
| Name | Description |
| PharmGKB entry for COA3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for COA3 gene:
Search GeneIP for patents involving COA3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for COA3 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for COA3 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COA3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COA3 | | | OriGene Protein Over-expression Lysate for COA3 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for COA3 | | OriGene 3'-UTR Clone for COA3 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COA3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COA3 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for COA3 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for COA3 | | OriGene Custom Protein Services for COA3 | | | OriGene Custom Immunoassay Development | | |
| |
 |
 |
| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COA3 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COA3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COA3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COA3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COA3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COA3 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for COA3 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | COA3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COA3 |
|  |  |  | | | | Search ThermoFisher Antibodies for COA3 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COA3 |
|
|
|
|
