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Protein

Ubiquinone biosynthesis protein COQ9, mitochondrial

Gene

COQ9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

Ubiquinone biosynthesis

Keywords - Ligandi

Lipid-binding

Enzyme and pathway databases

ReactomeiR-HSA-2142789. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

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

HGNCiHGNC:25302. COQ9.

Subcellular locationi

  • Mitochondrion By similarity

GO - Cellular componenti

  • mitochondrial inner membrane Source: GO_Central
  • mitochondrion Source: UniProtKB
Complete GO annotation...

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

Organism-specific databases

DisGeNETi57017.
MalaCardsiCOQ9.
MIMi614654. phenotype.
OpenTargetsiENSG00000088682.
Orphaneti319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
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.
TopDownProteomicsiO75208-1. [O75208-1]

PTM databases

iPTMnetiO75208.
PhosphoSitePlusiO75208.

Expressioni

Gene expression databases

BgeeiENSG00000088682.
CleanExiHS_COQ9.
ExpressionAtlasiO75208. baseline and differential.
GenevisibleiO75208. HS.

Organism-specific databases

HPAiHPA040918.

Interactioni

Subunit structurei

Homodimer. Interacts with COQ7.1 Publication

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi121326. 179 interactors.
IntActiO75208. 3 interactors.
MINTiMINT-1419260.
STRINGi9606.ENSP00000262507.

Structurei

Secondary structure

1318
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi96 – 108Combined sources13
Helixi111 – 114Combined sources4
Helixi118 – 127Combined sources10
Helixi132 – 137Combined sources6
Beta strandi140 – 142Combined sources3
Helixi143 – 169Combined sources27
Helixi178 – 191Combined sources14
Helixi192 – 199Combined sources8
Helixi200 – 207Combined sources8
Turni210 – 212Combined sources3
Helixi213 – 231Combined sources19
Helixi240 – 258Combined sources19
Helixi264 – 266Combined sources3
Helixi267 – 282Combined sources16
Helixi294 – 309Combined sources16

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...

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.
OMAiMFGKDGS.
OrthoDBiEOG091G0M72.
PhylomeDBiO75208.
TreeFamiTF324653.

Family and domain databases

InterProiIPR013718. COQ9.
IPR012762. Ubiq_biosynth_COQ9.
[Graphical view]
PfamiPF08511. COQ9. 1 hit.
[Graphical view]
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

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

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

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. 179 interactors.
IntActiO75208. 3 interactors.
MINTiMINT-1419260.
STRINGi9606.ENSP00000262507.

PTM databases

iPTMnetiO75208.
PhosphoSitePlusiO75208.

Polymorphism and mutation databases

BioMutaiCOQ9.

Proteomic databases

EPDiO75208.
MaxQBiO75208.
PaxDbiO75208.
PeptideAtlasiO75208.
PRIDEiO75208.
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.
GeneCardsiCOQ9.
HGNCiHGNC:25302. COQ9.
HPAiHPA040918.
MalaCardsiCOQ9.
MIMi612837. gene.
614654. phenotype.
neXtProtiNX_O75208.
OpenTargetsiENSG00000088682.
Orphaneti319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
PharmGKBiPA142672085.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2969. Eukaryota.
COG5590. LUCA.
GeneTreeiENSGT00390000009328.
HOVERGENiHBG079760.
InParanoidiO75208.
KOiK18587.
OMAiMFGKDGS.
OrthoDBiEOG091G0M72.
PhylomeDBiO75208.
TreeFamiTF324653.

Enzyme and pathway databases

UniPathwayiUPA00232.
ReactomeiR-HSA-2142789. Ubiquinol biosynthesis.

Miscellaneous databases

ChiTaRSiCOQ9. human.
GeneWikiiCOQ9.
GenomeRNAii57017.
PROiO75208.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000088682.
CleanExiHS_COQ9.
ExpressionAtlasiO75208. baseline and differential.
GenevisibleiO75208. HS.

Family and domain databases

InterProiIPR013718. COQ9.
IPR012762. Ubiq_biosynth_COQ9.
[Graphical view]
PfamiPF08511. COQ9. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: November 1, 1998
Last modified: November 30, 2016
This is version 128 of the entry and version 1 of the sequence. [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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.