UniProtKB - O75208 (COQ9_HUMAN)
Protein
Ubiquinone biosynthesis protein COQ9, mitochondrial
Gene
COQ9
Organism
Homo sapiens (Human)
Status
Functioni
Lipid-binding protein involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration. Binds a phospholipid of at least 10 carbons in each acyl group. May be required to present its bound-lipid to COQ7.1 Publication
: ubiquinone biosynthesis Pathwayi
This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.By similarityView all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.
GO - Molecular functioni
- lipid binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- mitochondrial electron transport, NADH to ubiquinone Source: Ensembl
- ubiquinone biosynthetic process Source: UniProtKB
Keywordsi
Biological process | Ubiquinone biosynthesis |
Ligand | Lipid-binding |
Enzyme and pathway databases
PathwayCommonsi | O75208 |
Reactomei | R-HSA-2142789, Ubiquinol biosynthesis |
UniPathwayi | UPA00232 |
Names & Taxonomyi
Protein namesi | Recommended name: Ubiquinone biosynthesis protein COQ9, mitochondrial |
Gene namesi | Name:COQ9 Synonyms:C16orf49 ORF Names:HSPC326, PSEC0129 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000088682.13 |
HGNCi | HGNC:25302, COQ9 |
MIMi | 612837, gene |
neXtProti | NX_O75208 |
Subcellular locationi
Mitochondrion
- Mitochondrion By similarity
Mitochondrion
- mitochondrial inner membrane Source: GO_Central
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Coenzyme Q10 deficiency, primary, 5 (COQ10D5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.
Related information in OMIMMutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 190 | L → E: Impairs interaction with COQ7. 1 Publication | 1 | |
Mutagenesisi | 227 | M → E: Impairs interaction with COQ7. 1 Publication | 1 | |
Mutagenesisi | 237 | D → K: Impairs interaction with COQ7. 1 Publication | 1 | |
Mutagenesisi | 240 | W → D or K: Abolishes interaction with COQ7. 1 Publication | 1 | |
Mutagenesisi | 241 | Y → D or K: Abolishes interaction with COQ7. 1 Publication | 1 | |
Mutagenesisi | 256 | L → K: Impairs interaction with COQ7. 1 Publication | 1 |
Keywords - Diseasei
Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 57017 |
GeneReviewsi | COQ9 |
MalaCardsi | COQ9 |
MIMi | 614654, phenotype |
OpenTargetsi | ENSG00000088682 |
Orphaneti | 319678, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
PharmGKBi | PA142672085 |
Miscellaneous databases
Pharosi | O75208, Tbio |
Polymorphism and mutation databases
BioMutai | COQ9 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 44 | MitochondrionSequence analysisAdd BLAST | 44 | |
ChainiPRO_0000228637 | 45 – 318 | Ubiquinone biosynthesis protein COQ9, mitochondrialAdd BLAST | 274 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 175 | N6-acetyllysineBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
EPDi | O75208 |
jPOSTi | O75208 |
MassIVEi | O75208 |
MaxQBi | O75208 |
PaxDbi | O75208 |
PeptideAtlasi | O75208 |
PRIDEi | O75208 |
ProteomicsDBi | 49869 [O75208-1] 49870 [O75208-2] |
TopDownProteomicsi | O75208-1 [O75208-1] |
PTM databases
iPTMneti | O75208 |
PhosphoSitePlusi | O75208 |
Expressioni
Gene expression databases
Bgeei | ENSG00000088682, Expressed in apex of heart and 183 other tissues |
ExpressionAtlasi | O75208, baseline and differential |
Genevisiblei | O75208, HS |
Organism-specific databases
HPAi | ENSG00000088682, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Homodimer.
Interacts with COQ7.
1 PublicationBinary interactionsi
Hide detailsO75208
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 121326, 209 interactors |
ComplexPortali | CPX-3642, CoQ biosynthetic complex |
IntActi | O75208, 242 interactors |
STRINGi | 9606.ENSP00000262507 |
Miscellaneous databases
RNActi | O75208, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | O75208 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 241 – 244 | Lipid bindingCombined sources1 Publication | 4 |
Domaini
Structurally similar to the bacterial FadR protein (fatty acid metabolism regulator protein).1 Publication
Sequence similaritiesi
Belongs to the COQ9 family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2969, Eukaryota |
GeneTreei | ENSGT00390000009328 |
HOGENOMi | CLU_057411_0_2_1 |
InParanoidi | O75208 |
OMAi | FMTNDRS |
PhylomeDBi | O75208 |
TreeFami | TF324653 |
Family and domain databases
InterProi | View protein in InterPro IPR013718, COQ9 IPR012762, Ubiq_biosynth_COQ9 |
PANTHERi | PTHR21427, PTHR21427, 1 hit |
Pfami | View protein in Pfam PF08511, COQ9, 1 hit |
TIGRFAMsi | TIGR02396, diverge_rpsU, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O75208-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ
60 70 80 90 100
KQQPPNSFSQ QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ
110 120 130 140 150
HRILTAALEF VPAHGWTAEA IAEGAQSLGL SSAAASMFGK DGSELILHFV
160 170 180 190 200
TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ FLRDAVETRL RMLIPYIEHW
210 220 230 240 250
PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW YTRRAMLAAI
260 270 280 290 300
YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG
310
LMGAAVTLKN LTGLNQRR
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BRC0 | H3BRC0_HUMAN | Ubiquinone biosynthesis protein | COQ9 | 207 | Annotation score: | ||
H3BSJ5 | H3BSJ5_HUMAN | Ubiquinone biosynthesis protein | COQ9 | 283 | Annotation score: | ||
H3BNT2 | H3BNT2_HUMAN | Ubiquinone biosynthesis protein | COQ9 | 303 | Annotation score: | ||
H3BVA5 | H3BVA5_HUMAN | Ubiquinone biosynthesis protein | COQ9 | 172 | Annotation score: | ||
H3BPC6 | H3BPC6_HUMAN | Ubiquinone biosynthesis protein | COQ9 | 188 | Annotation score: | ||
H3BPY0 | H3BPY0_HUMAN | Ubiquinone biosynthesis protein | COQ9 | 89 | Annotation score: | ||
H3BPW3 | H3BPW3_HUMAN | Ubiquinone biosynthesis protein COQ... | COQ9 | 102 | Annotation score: |
Sequence cautioni
The sequence AAF29004 differs from that shown. Reason: Frameshift.Curated
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017683 | 127 – 135 | SLGLSSAAA → VCIGEGGAT in isoform 2. 1 Publication | 9 | |
Alternative sequenceiVSP_017684 | 136 – 318 | Missing in isoform 2. 1 PublicationAdd BLAST | 183 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161444 mRNA Translation: AAF29004.1 Frameshift. AK075438 mRNA Translation: BAC11621.1 AK290627 mRNA Translation: BAF83316.1 AC004382 Genomic DNA Translation: AAC24313.1 CH471092 Genomic DNA Translation: EAW82928.1 BC001478 mRNA Translation: AAH01478.2 BC054340 mRNA Translation: AAH54340.2 BC064946 mRNA Translation: AAH64946.1 AL136884 mRNA Translation: CAB66818.2 |
CCDSi | CCDS32459.1 [O75208-1] |
PIRi | T46490 |
RefSeqi | NP_064708.1, NM_020312.3 [O75208-1] |
Genome annotation databases
Ensembli | ENST00000262507; ENSP00000262507; ENSG00000088682 [O75208-1] |
GeneIDi | 57017 |
KEGGi | hsa:57017 |
UCSCi | uc002elq.4, human [O75208-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF161444 mRNA Translation: AAF29004.1 Frameshift. AK075438 mRNA Translation: BAC11621.1 AK290627 mRNA Translation: BAF83316.1 AC004382 Genomic DNA Translation: AAC24313.1 CH471092 Genomic DNA Translation: EAW82928.1 BC001478 mRNA Translation: AAH01478.2 BC054340 mRNA Translation: AAH54340.2 BC064946 mRNA Translation: AAH64946.1 AL136884 mRNA Translation: CAB66818.2 |
CCDSi | CCDS32459.1 [O75208-1] |
PIRi | T46490 |
RefSeqi | NP_064708.1, NM_020312.3 [O75208-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4RHP | X-ray | 2.39 | A/B | 84-318 | [»] | |
6AWL | X-ray | 2.00 | A/B | 1-318 | [»] | |
6DEW | X-ray | 2.00 | A/B/C/D/E/F | 79-287 | [»] | |
SMRi | O75208 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 121326, 209 interactors |
ComplexPortali | CPX-3642, CoQ biosynthetic complex |
IntActi | O75208, 242 interactors |
STRINGi | 9606.ENSP00000262507 |
PTM databases
iPTMneti | O75208 |
PhosphoSitePlusi | O75208 |
Polymorphism and mutation databases
BioMutai | COQ9 |
Proteomic databases
EPDi | O75208 |
jPOSTi | O75208 |
MassIVEi | O75208 |
MaxQBi | O75208 |
PaxDbi | O75208 |
PeptideAtlasi | O75208 |
PRIDEi | O75208 |
ProteomicsDBi | 49869 [O75208-1] 49870 [O75208-2] |
TopDownProteomicsi | O75208-1 [O75208-1] |
Protocols and materials databases
Antibodypediai | 44070, 110 antibodies |
DNASUi | 57017 |
Genome annotation databases
Ensembli | ENST00000262507; ENSP00000262507; ENSG00000088682 [O75208-1] |
GeneIDi | 57017 |
KEGGi | hsa:57017 |
UCSCi | uc002elq.4, human [O75208-1] |
Organism-specific databases
CTDi | 57017 |
DisGeNETi | 57017 |
EuPathDBi | HostDB:ENSG00000088682.13 |
GeneCardsi | COQ9 |
GeneReviewsi | COQ9 |
HGNCi | HGNC:25302, COQ9 |
HPAi | ENSG00000088682, Tissue enhanced (skeletal) |
MalaCardsi | COQ9 |
MIMi | 612837, gene 614654, phenotype |
neXtProti | NX_O75208 |
OpenTargetsi | ENSG00000088682 |
Orphaneti | 319678, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome |
PharmGKBi | PA142672085 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2969, Eukaryota |
GeneTreei | ENSGT00390000009328 |
HOGENOMi | CLU_057411_0_2_1 |
InParanoidi | O75208 |
OMAi | FMTNDRS |
PhylomeDBi | O75208 |
TreeFami | TF324653 |
Enzyme and pathway databases
UniPathwayi | UPA00232 |
PathwayCommonsi | O75208 |
Reactomei | R-HSA-2142789, Ubiquinol biosynthesis |
Miscellaneous databases
BioGRID-ORCSi | 57017, 13 hits in 847 CRISPR screens |
ChiTaRSi | COQ9, human |
GeneWikii | COQ9 |
GenomeRNAii | 57017 |
Pharosi | O75208, Tbio |
PROi | PR:O75208 |
RNActi | O75208, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000088682, Expressed in apex of heart and 183 other tissues |
ExpressionAtlasi | O75208, baseline and differential |
Genevisiblei | O75208, HS |
Family and domain databases
InterProi | View protein in InterPro IPR013718, COQ9 IPR012762, Ubiq_biosynth_COQ9 |
PANTHERi | PTHR21427, PTHR21427, 1 hit |
Pfami | View protein in Pfam PF08511, COQ9, 1 hit |
TIGRFAMsi | TIGR02396, diverge_rpsU, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | COQ9_HUMAN | |
Accessioni | O75208Primary (citable) accession number: O75208 Secondary accession number(s): A8K3L2 Q9P056 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 21, 2006 |
Last sequence update: | November 1, 1998 | |
Last modified: | December 2, 2020 | |
This is version 156 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM