SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

O75208

- COQ9_HUMAN

UniProt

O75208 - COQ9_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Ubiquinone biosynthesis protein COQ9, mitochondrial
Gene
COQ9, C16orf49, HSPC326, PSEC0129
Organism
Homo sapiens (Human)
Status
Reviewed - 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: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 5 (COQ10D5) [MIM:614654]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

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 – 4444Mitochondrion Reviewed prediction
Add
BLAST
Chaini45 – 318274Ubiquinone biosynthesis protein COQ9, mitochondrial
PRO_0000228637Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO75208.
PaxDbiO75208.
PRIDEiO75208.

PTM databases

PhosphoSiteiO75208.

Expressioni

Gene expression databases

ArrayExpressiO75208.
BgeeiO75208.
CleanExiHS_COQ9.
GenevestigatoriO75208.

Organism-specific databases

HPAiHPA040918.

Interactioni

Protein-protein interaction databases

IntActiO75208. 2 interactions.
MINTiMINT-1419260.
STRINGi9606.ENSP00000262507.

Structurei

3D structure databases

ProteinModelPortaliO75208.

Family & Domainsi

Sequence similaritiesi

Belongs to the COQ9 family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG5590.
HOVERGENiHBG079760.
InParanoidiO75208.
OMAiEIMENGH.
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

MAAAAVSGAL GRAGWRLLQL RCLPVARCRQ ALVPRAFHAS AVGLRSSDEQ    50
KQQPPNSFSQ QHSETQGAEK PDPESSHSPP RYTDQGGEEE EDYESEEQLQ 100
HRILTAALEF VPAHGWTAEA IAEGAQSLGL SSAAASMFGK DGSELILHFV 150
TQCNTRLTRV LEEEQKLVQL GQAEKRKTDQ FLRDAVETRL RMLIPYIEHW 200
PRALSILMLP HNIPSSLSLL TSMVDDMWHY AGDQSTDFNW YTRRAMLAAI 250
YNTTELVMMQ DSSPDFEDTW RFLENRVNDA MNMGHTAKQV KSTGEALVQG 300
LMGAAVTLKN LTGLNQRR 318
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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei127 – 1359SLGLSSAAA → VCIGEGGAT in isoform 2.
VSP_017683
Alternative sequencei136 – 318183Missing in isoform 2.
VSP_017684Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 ]
UniGenei Hs.513632.

3D structure databases

ProteinModelPortali O75208.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

IntActi O75208. 2 interactions.
MINTi MINT-1419260.
STRINGi 9606.ENSP00000262507.

PTM databases

PhosphoSitei O75208.

Proteomic databases

MaxQBi O75208.
PaxDbi O75208.
PRIDEi O75208.

Protocols and materials databases

DNASUi 57017.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262507 ; ENSP00000262507 ; ENSG00000088682 . [O75208-1 ]
GeneIDi 57017.
KEGGi hsa:57017.
UCSCi uc002elp.2. human. [O75208-2 ]
uc002elq.3. human. [O75208-1 ]

Organism-specific databases

CTDi 57017.
GeneCardsi GC16P057481.
HGNCi HGNC:25302. COQ9.
HPAi HPA040918.
MIMi 612837. gene.
614654. phenotype.
neXtProti NX_O75208.
Orphaneti 319678. Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease.
PharmGKBi PA142672085.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5590.
HOVERGENi HBG079760.
InParanoidi O75208.
OMAi EIMENGH.
OrthoDBi EOG75B85W.
PhylomeDBi O75208.
TreeFami TF324653.

Enzyme and pathway databases

UniPathwayi UPA00232 .

Miscellaneous databases

ChiTaRSi COQ9. human.
GeneWikii COQ9.
GenomeRNAii 57017.
NextBioi 62762.
PROi O75208.
SOURCEi Search...

Gene expression databases

ArrayExpressi O75208.
Bgeei O75208.
CleanExi HS_COQ9.
Genevestigatori O75208.

Family and domain databases

InterProi IPR013718. COQ9.
IPR012762. Ubiq_biosynth_COQ9.
[Graphical view ]
Pfami PF08511. COQ9. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR02396. diverge_rpsU. 1 hit.
ProtoNeti Search...

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: July 9, 2014
This is version 105 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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi