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Protein

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial

Gene

COQ4

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

Functioni

Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.UniRule annotation1 Publication

Pathway:iubiquinone biosynthesis

This protein is involved in the pathway ubiquinone biosynthesis, which is part of Cofactor biosynthesis.UniRule annotation
View all proteins of this organism that are known to be involved in the pathway ubiquinone biosynthesis and in Cofactor biosynthesis.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Ubiquinone biosynthesis

Enzyme and pathway databases

UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialUniRule annotation
Alternative name(s):
Coenzyme Q biosynthesis protein 4 homologUniRule annotation
Gene namesi
Name:COQ4UniRule annotation
ORF Names:CGI-92
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:19693. COQ4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Coenzyme Q10 deficiency, primary, 7 (COQ10D7)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.

See also OMIM:616276
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521L → S in COQ10D7. 1 Publication
VAR_073356
Natural varianti64 – 641P → S in COQ10D7. 1 Publication
VAR_073357
Natural varianti145 – 1451R → G in COQ10D7. 1 Publication
VAR_073358
Natural varianti174 – 1741Missing in COQ10D7. 1 Publication
VAR_073359
Natural varianti240 – 2401R → C in COQ10D7. 1 Publication
VAR_073360

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi616276. phenotype.
PharmGKBiPA134957951.

Polymorphism and mutation databases

BioMutaiCOQ4.
DMDMi226694194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3030MitochondrionUniRule annotationAdd
BLAST
Chaini31 – 265235Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialPRO_0000115240Add
BLAST

Proteomic databases

MaxQBiQ9Y3A0.
PaxDbiQ9Y3A0.
PRIDEiQ9Y3A0.

PTM databases

PhosphoSiteiQ9Y3A0.

Expressioni

Tissue specificityi

Expressed ubiquitously, but at high levels in liver, lung and pancreas.1 Publication

Gene expression databases

BgeeiQ9Y3A0.
CleanExiHS_COQ4.
ExpressionAtlasiQ9Y3A0. baseline and differential.
GenevisibleiQ9Y3A0. HS.

Organism-specific databases

HPAiHPA042945.

Interactioni

Subunit structurei

Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.UniRule annotation

Protein-protein interaction databases

BioGridi119305. 1 interaction.
STRINGi9606.ENSP00000300452.

Structurei

3D structure databases

ProteinModelPortaliQ9Y3A0.
SMRiQ9Y3A0. Positions 87-256.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COQ4 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG5031.
GeneTreeiENSGT00390000003828.
HOGENOMiHOG000194110.
HOVERGENiHBG027006.
InParanoidiQ9Y3A0.
KOiK18586.
OMAiYEQRWEQ.
OrthoDBiEOG7S7SGB.
PhylomeDBiQ9Y3A0.
TreeFamiTF314625.

Family and domain databases

HAMAPiMF_03111. Coq4.
InterProiIPR007715. Coq4.
IPR027540. Coq4_euk.
[Graphical view]
PfamiPF05019. Coq4. 1 hit.
[Graphical view]

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: Q9Y3A0-1) [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
MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG
60 70 80 90 100
LLAAGSAAMA LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ
110 120 130 140 150
ERPRISTSTL DLGKLQSLPE GSLGREYLRF LDVNRVSPDT RAPTRFVDDE
160 170 180 190 200
ELAYVIQRYR EVHDMLHTLL GMPTNILGEI VVKWFEAVQT GLPMCILGAF
210 220 230 240 250
FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR WEQSLRALRE
260
ELGITAPPMH VQGLA
Length:265
Mass (Da):29,657
Last modified:April 14, 2009 - v3
Checksum:iBFD161918B2924E2
GO
Isoform 2 (identifier: Q9Y3A0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:241
Mass (Da):27,043
Checksum:i43BFF1418627F86A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti230 – 2301P → H in AAD34087 (PubMed:10810093).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti20 – 201R → Q.
Corresponds to variant rs9697215 [ dbSNP | Ensembl ].
VAR_048829
Natural varianti50 – 501G → A.4 Publications
Corresponds to variant rs3003601 [ dbSNP | Ensembl ].
VAR_054861
Natural varianti52 – 521L → S in COQ10D7. 1 Publication
VAR_073356
Natural varianti64 – 641P → S in COQ10D7. 1 Publication
VAR_073357
Natural varianti145 – 1451R → G in COQ10D7. 1 Publication
VAR_073358
Natural varianti174 – 1741Missing in COQ10D7. 1 Publication
VAR_073359
Natural varianti240 – 2401R → C in COQ10D7. 1 Publication
VAR_073360

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424Missing in isoform 2. 1 PublicationVSP_036866Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU216419 mRNA. Translation: ABW91141.1.
EU216420 mRNA. Translation: ABW91142.1.
EU216421 mRNA. Translation: ABW91143.1.
EU216422 mRNA. Translation: ABW91144.1.
EU216423 mRNA. Translation: ABW91145.1.
AF151850 mRNA. Translation: AAD34087.1.
AK313650 mRNA. Translation: BAG36405.1.
AL359091 Genomic DNA. Translation: CAI13487.1.
CH471090 Genomic DNA. Translation: EAW87776.1.
BC011895 mRNA. Translation: AAH11895.1.
CCDSiCCDS6898.1. [Q9Y3A0-1]
RefSeqiNP_057119.2. NM_016035.4.
UniGeneiHs.98541.

Genome annotation databases

EnsembliENST00000300452; ENSP00000300452; ENSG00000167113.
GeneIDi51117.
KEGGihsa:51117.
UCSCiuc004bur.4. human. [Q9Y3A0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU216419 mRNA. Translation: ABW91141.1.
EU216420 mRNA. Translation: ABW91142.1.
EU216421 mRNA. Translation: ABW91143.1.
EU216422 mRNA. Translation: ABW91144.1.
EU216423 mRNA. Translation: ABW91145.1.
AF151850 mRNA. Translation: AAD34087.1.
AK313650 mRNA. Translation: BAG36405.1.
AL359091 Genomic DNA. Translation: CAI13487.1.
CH471090 Genomic DNA. Translation: EAW87776.1.
BC011895 mRNA. Translation: AAH11895.1.
CCDSiCCDS6898.1. [Q9Y3A0-1]
RefSeqiNP_057119.2. NM_016035.4.
UniGeneiHs.98541.

3D structure databases

ProteinModelPortaliQ9Y3A0.
SMRiQ9Y3A0. Positions 87-256.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119305. 1 interaction.
STRINGi9606.ENSP00000300452.

PTM databases

PhosphoSiteiQ9Y3A0.

Polymorphism and mutation databases

BioMutaiCOQ4.
DMDMi226694194.

Proteomic databases

MaxQBiQ9Y3A0.
PaxDbiQ9Y3A0.
PRIDEiQ9Y3A0.

Protocols and materials databases

DNASUi51117.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000300452; ENSP00000300452; ENSG00000167113.
GeneIDi51117.
KEGGihsa:51117.
UCSCiuc004bur.4. human. [Q9Y3A0-1]

Organism-specific databases

CTDi51117.
GeneCardsiGC09P131084.
HGNCiHGNC:19693. COQ4.
HPAiHPA042945.
MIMi612898. gene.
616276. phenotype.
neXtProtiNX_Q9Y3A0.
PharmGKBiPA134957951.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5031.
GeneTreeiENSGT00390000003828.
HOGENOMiHOG000194110.
HOVERGENiHBG027006.
InParanoidiQ9Y3A0.
KOiK18586.
OMAiYEQRWEQ.
OrthoDBiEOG7S7SGB.
PhylomeDBiQ9Y3A0.
TreeFamiTF314625.

Enzyme and pathway databases

UniPathwayiUPA00232.

Miscellaneous databases

ChiTaRSiCOQ4. human.
GeneWikiiCOQ4.
GenomeRNAii51117.
NextBioi53889.
PROiQ9Y3A0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y3A0.
CleanExiHS_COQ4.
ExpressionAtlasiQ9Y3A0. baseline and differential.
GenevisibleiQ9Y3A0. HS.

Family and domain databases

HAMAPiMF_03111. Coq4.
InterProiIPR007715. Coq4.
IPR027540. Coq4_euk.
[Graphical view]
PfamiPF05019. Coq4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
  2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
    Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
    Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-50.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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), VARIANT ALA-50.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-50.
  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), VARIANT ALA-50.
    Tissue: Lung.
  7. Cited for: INVOLVEMENT IN COQ10D7, VARIANTS COQ10D7 SER-52; SER-64; GLY-145; THR-174 DEL AND CYS-240.

Entry informationi

Entry nameiCOQ4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y3A0
Secondary accession number(s): A8WBK8
, B2R958, Q5T4B8, Q96EW4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: April 14, 2009
Last modified: July 22, 2015
This is version 107 of the entry and version 3 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.