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Protein

Ubiquinone biosynthesis protein COQ9, mitochondrial

Gene

COQ9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the biosynthesis of coenzyme Q.By similarity

Pathwayi

GO - Biological processi

  1. mitochondrial electron transport, NADH to ubiquinone Source: Ensembl
  2. ubiquinone biosynthetic process Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Biological processi

Ubiquinone biosynthesis

Enzyme and pathway databases

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
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:25302. COQ9.

Subcellular locationi

Mitochondrion By similarity

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 51 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

Organism-specific databases

MIMi614654. phenotype.
Orphaneti319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
PharmGKBiPA142672085.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4444MitochondrionSequence AnalysisAdd
BLAST
Chaini45 – 318274Ubiquinone biosynthesis protein COQ9, mitochondrialPRO_0000228637Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei175 – 1751N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO75208.
PaxDbiO75208.
PRIDEiO75208.

PTM databases

PhosphoSiteiO75208.

Expressioni

Gene expression databases

BgeeiO75208.
CleanExiHS_COQ9.
ExpressionAtlasiO75208. baseline and differential.
GenevestigatoriO75208.

Organism-specific databases

HPAiHPA040918.

Interactioni

Protein-protein interaction databases

BioGridi121326. 1 interaction.
IntActiO75208. 2 interactions.
MINTiMINT-1419260.
STRINGi9606.ENSP00000262507.

Structurei

Secondary structure

1
318
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi96 – 10813Combined sources
Helixi111 – 1144Combined sources
Helixi118 – 12710Combined sources
Helixi132 – 1376Combined sources
Beta strandi140 – 1423Combined sources
Helixi143 – 16927Combined sources
Helixi178 – 19114Combined sources
Helixi192 – 1998Combined sources
Helixi200 – 2078Combined sources
Turni210 – 2123Combined sources
Helixi213 – 23119Combined sources
Helixi240 – 25819Combined sources
Helixi264 – 2663Combined sources
Helixi267 – 28216Combined sources

3D structure databases

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

Family & Domainsi

Sequence similaritiesi

Belongs to the COQ9 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG5590.
GeneTreeiENSGT00390000009328.
HOVERGENiHBG079760.
InParanoidiO75208.
KOiK18587.
OMAiIPYIEKW.
OrthoDBiEOG75B85W.
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. Align

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 AAF29004.1 differs from that shown. Reason: Frameshift at positions 26, 133, 138 and 141. Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei127 – 1359SLGLSSAAA → VCIGEGGAT in isoform 2. 1 PublicationVSP_017683
Alternative sequencei136 – 318183Missing in isoform 2. 1 PublicationVSP_017684Add
BLAST

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.
UCSCiuc002elp.2. human. [O75208-2]
uc002elq.3. 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
EntryMethodResolution (Å)ChainPositionsPDBsum
4RHPX-ray2.39A/B84-318[»]
ProteinModelPortaliO75208.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121326. 1 interaction.
IntActiO75208. 2 interactions.
MINTiMINT-1419260.
STRINGi9606.ENSP00000262507.

PTM databases

PhosphoSiteiO75208.

Proteomic databases

MaxQBiO75208.
PaxDbiO75208.
PRIDEiO75208.

Protocols and materials databases

DNASUi57017.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262507; ENSP00000262507; ENSG00000088682. [O75208-1]
GeneIDi57017.
KEGGihsa:57017.
UCSCiuc002elp.2. human. [O75208-2]
uc002elq.3. human. [O75208-1]

Organism-specific databases

CTDi57017.
GeneCardsiGC16P057481.
HGNCiHGNC:25302. COQ9.
HPAiHPA040918.
MIMi612837. gene.
614654. phenotype.
neXtProtiNX_O75208.
Orphaneti319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
PharmGKBiPA142672085.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5590.
GeneTreeiENSGT00390000009328.
HOVERGENiHBG079760.
InParanoidiO75208.
KOiK18587.
OMAiIPYIEKW.
OrthoDBiEOG75B85W.
PhylomeDBiO75208.
TreeFamiTF324653.

Enzyme and pathway databases

UniPathwayiUPA00232.

Miscellaneous databases

ChiTaRSiCOQ9. human.
GeneWikiiCOQ9.
GenomeRNAii57017.
NextBioi62762.
PROiO75208.
SOURCEiSearch...

Gene expression databases

BgeeiO75208.
CleanExiHS_COQ9.
ExpressionAtlasiO75208. baseline and differential.
GenevestigatoriO75208.

Family and domain databases

InterProiIPR013718. COQ9.
IPR012762. Ubiq_biosynth_COQ9.
[Graphical view]
PfamiPF08511. COQ9. 1 hit.
[Graphical view]
TIGRFAMsiTIGR02396. diverge_rpsU. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells."
    Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X.
    , Gu J., Chen S.-J., Chen Z.
    Genome Res. 10:1546-1560(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Umbilical cord blood.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Heart.
  3. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
    Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
    , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
    DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung, Skin and Uterus.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-318 (ISOFORM 1).
    Tissue: Testis.
  8. "A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease."
    Duncan A.J., Bitner-Glindzicz M., Meunier B., Costello H., Hargreaves I.P., Lopez L.C., Hirano M., Quinzii C.M., Sadowski M.I., Hardy J., Singleton A., Clayton P.T., Rahman S.
    Am. J. Hum. Genet. 84:558-566(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN COQ10D5.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

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: February 4, 2015
This is version 110 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

External Data

Dasty 3

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 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.