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Protein

Ubiquinone biosynthesis protein COQ9, mitochondrial

Gene

COQ9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Pathwayi: ubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.By similarity
View 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

Keywordsi

Biological processUbiquinone biosynthesis
LigandLipid-binding

Enzyme and pathway databases

ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000088682.13
HGNCiHGNC:25302 COQ9
MIMi612837 gene
neXtProtiNX_O75208

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & 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.
See also OMIM:614654

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi190L → E: Impairs interaction with COQ7. 1 Publication1
Mutagenesisi227M → E: Impairs interaction with COQ7. 1 Publication1
Mutagenesisi237D → K: Impairs interaction with COQ7. 1 Publication1
Mutagenesisi240W → D or K: Abolishes interaction with COQ7. 1 Publication1
Mutagenesisi241Y → D or K: Abolishes interaction with COQ7. 1 Publication1
Mutagenesisi256L → K: Impairs interaction with COQ7. 1 Publication1

Keywords - Diseasei

Primary mitochondrial disease

Organism-specific databases

DisGeNETi57017
MalaCardsiCOQ9
MIMi614654 phenotype
OpenTargetsiENSG00000088682
Orphaneti319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
PharmGKBiPA142672085

Polymorphism and mutation databases

BioMutaiCOQ9

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 44MitochondrionSequence analysisAdd BLAST44
ChainiPRO_000022863745 – 318Ubiquinone biosynthesis protein COQ9, mitochondrialAdd BLAST274

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei175N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO75208
MaxQBiO75208
PaxDbiO75208
PeptideAtlasiO75208
PRIDEiO75208
ProteomicsDBi49869
49870 [O75208-2]
TopDownProteomicsiO75208-1 [O75208-1]

PTM databases

iPTMnetiO75208
PhosphoSitePlusiO75208

Expressioni

Gene expression databases

BgeeiENSG00000088682 Expressed in 169 organ(s), highest expression level in apex of heart
CleanExiHS_COQ9
ExpressionAtlasiO75208 baseline and differential
GenevisibleiO75208 HS

Organism-specific databases

HPAiHPA040918

Interactioni

Subunit structurei

Homodimer. Interacts with COQ7.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121326, 180 interactors
ComplexPortaliCPX-3642 CoQ biosynthetic complex
IntActiO75208, 56 interactors
STRINGi9606.ENSP00000262507

Structurei

Secondary structure

1318
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75208
SMRiO75208
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni241 – 244Lipid bindingCombined sources1 Publication4

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 peptide

Phylogenomic databases

eggNOGiKOG2969 Eukaryota
COG5590 LUCA
GeneTreeiENSGT00390000009328
HOVERGENiHBG079760
InParanoidiO75208
KOiK18587
OMAiDPSWYTK
OrthoDBiEOG091G0M72
PhylomeDBiO75208
TreeFamiTF324653

Family and domain databases

InterProiView protein in InterPro
IPR013718 COQ9
IPR012762 Ubiq_biosynth_COQ9
PANTHERiPTHR21427 PTHR21427, 1 hit
PfamiView protein in Pfam
PF08511 COQ9, 1 hit
TIGRFAMsiTIGR02396 diverge_rpsU, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:318
Mass (Da):35,509
Last modified:November 1, 1998 - v1
Checksum:iF648B4B409E749DA
GO
Isoform 2 (identifier: O75208-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-135: SLGLSSAAA → VCIGEGGAT
     136-318: Missing.

Note: No experimental confirmation available.
Show »
Length:135
Mass (Da):14,505
Checksum:i9C945AE4C90B6CC1
GO

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BRC0H3BRC0_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
207Annotation score:
H3BPC6H3BPC6_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
188Annotation score:
H3BVA5H3BVA5_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
172Annotation score:
H3BSJ5H3BSJ5_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
283Annotation score:
H3BNT2H3BNT2_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
303Annotation score:
H3BPY0H3BPY0_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
89Annotation score:
H3BPW3H3BPW3_HUMAN
Ubiquinone biosynthesis protein COQ...
COQ9
102Annotation score:

Sequence cautioni

The sequence AAF29004 differs from that shown. Reason: Frameshift at positions 26, 133, 138 and 141.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017683127 – 135SLGLSSAAA → VCIGEGGAT in isoform 2. 1 Publication9
Alternative sequenceiVSP_017684136 – 318Missing in isoform 2. 1 PublicationAdd BLAST183

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
CCDSiCCDS32459.1 [O75208-1]
PIRiT46490
RefSeqiNP_064708.1, NM_020312.3 [O75208-1]
UniGeneiHs.513632

Genome annotation databases

EnsembliENST00000262507; ENSP00000262507; ENSG00000088682 [O75208-1]
GeneIDi57017
KEGGihsa:57017
UCSCiuc002elq.4 human [O75208-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS32459.1 [O75208-1]
PIRiT46490
RefSeqiNP_064708.1, NM_020312.3 [O75208-1]
UniGeneiHs.513632

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4RHPX-ray2.39A/B84-318[»]
ProteinModelPortaliO75208
SMRiO75208
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121326, 180 interactors
ComplexPortaliCPX-3642 CoQ biosynthetic complex
IntActiO75208, 56 interactors
STRINGi9606.ENSP00000262507

PTM databases

iPTMnetiO75208
PhosphoSitePlusiO75208

Polymorphism and mutation databases

BioMutaiCOQ9

Proteomic databases

EPDiO75208
MaxQBiO75208
PaxDbiO75208
PeptideAtlasiO75208
PRIDEiO75208
ProteomicsDBi49869
49870 [O75208-2]
TopDownProteomicsiO75208-1 [O75208-1]

Protocols and materials databases

DNASUi57017
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262507; ENSP00000262507; ENSG00000088682 [O75208-1]
GeneIDi57017
KEGGihsa:57017
UCSCiuc002elq.4 human [O75208-1]

Organism-specific databases

CTDi57017
DisGeNETi57017
EuPathDBiHostDB:ENSG00000088682.13
GeneCardsiCOQ9
HGNCiHGNC:25302 COQ9
HPAiHPA040918
MalaCardsiCOQ9
MIMi612837 gene
614654 phenotype
neXtProtiNX_O75208
OpenTargetsiENSG00000088682
Orphaneti319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
PharmGKBiPA142672085
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2969 Eukaryota
COG5590 LUCA
GeneTreeiENSGT00390000009328
HOVERGENiHBG079760
InParanoidiO75208
KOiK18587
OMAiDPSWYTK
OrthoDBiEOG091G0M72
PhylomeDBiO75208
TreeFamiTF324653

Enzyme and pathway databases

UniPathwayi
UPA00232

ReactomeiR-HSA-2142789 Ubiquinol biosynthesis

Miscellaneous databases

ChiTaRSiCOQ9 human
GeneWikiiCOQ9
GenomeRNAii57017
PROiPR:O75208
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000088682 Expressed in 169 organ(s), highest expression level in apex of heart
CleanExiHS_COQ9
ExpressionAtlasiO75208 baseline and differential
GenevisibleiO75208 HS

Family and domain databases

InterProiView protein in InterPro
IPR013718 COQ9
IPR012762 Ubiq_biosynth_COQ9
PANTHERiPTHR21427 PTHR21427, 1 hit
PfamiView protein in Pfam
PF08511 COQ9, 1 hit
TIGRFAMsiTIGR02396 diverge_rpsU, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOQ9_HUMAN
AccessioniPrimary (citable) accession number: O75208
Secondary accession number(s): A8K3L2
, Q7L5V7, Q7Z5T6, Q8NBL4, Q9NTJ2, Q9P056
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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