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Q9Y3A0

- COQ4_HUMAN

UniProt

Q9Y3A0 - COQ4_HUMAN

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Protein
Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
Gene
COQ4, CGI-92
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript 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.1 Publication

Pathwayi

GO - Biological processi

  1. 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 COQ4 homolog, mitochondrial
Alternative name(s):
Coenzyme Q biosynthesis protein 4 homolog
Gene namesi
Name:COQ4
ORF Names:CGI-92
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:19693. COQ4.

Subcellular locationi

Isoform 1 : Mitochondrion inner membrane; Peripheral membrane protein; Matrix side 1 Publication

GO - Cellular componenti

  1. mitochondrial inner membrane Source: UniProtKB-SubCell
  2. mitochondrion Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134957951.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3030Mitochondrion Reviewed prediction
Add
BLAST
Chaini31 – 265235Ubiquinone biosynthesis protein COQ4 homolog, mitochondrialUniRule annotation
PRO_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

ArrayExpressiQ9Y3A0.
BgeeiQ9Y3A0.
CleanExiHS_COQ4.
GenevestigatoriQ9Y3A0.

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 By similarity.

Protein-protein interaction databases

BioGridi119305. 1 interaction.
STRINGi9606.ENSP00000300452.

Structurei

3D structure databases

ProteinModelPortaliQ9Y3A0.
SMRiQ9Y3A0. Positions 87-256.

Family & Domainsi

Sequence similaritiesi

Belongs to the COQ4 family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG5031.
HOGENOMiHOG000194110.
HOVERGENiHBG027006.
InParanoidiQ9Y3A0.
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. Align

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

MATLLRPVLR RLCGLPGLQR PAAEMPLRAR SDGAGPLYSH HLPTSPLQKG    50
LLAAGSAAMA LYNPYRHDMV AVLGETTGHR TLKVLRDQMR RDPEGAQILQ 100
ERPRISTSTL DLGKLQSLPE GSLGREYLRF LDVNRVSPDT RAPTRFVDDE 150
ELAYVIQRYR EVHDMLHTLL GMPTNILGEI VVKWFEAVQT GLPMCILGAF 200
FGPIRLGAQS LQVLVSELIP WAVQNGRRAP CVLNLYYERR WEQSLRALRE 250
ELGITAPPMH VQGLA 265
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

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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424Missing in isoform 2.
VSP_036866Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti230 – 2301P → H in AAD34087. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_016035.3.
UniGeneiHs.98541.

Genome annotation databases

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

Polymorphism databases

DMDMi226694194.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6898.1. [Q9Y3A0-1 ]
RefSeqi NP_057119.2. NM_016035.3.
UniGenei Hs.98541.

3D structure databases

ProteinModelPortali Q9Y3A0.
SMRi Q9Y3A0. Positions 87-256.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119305. 1 interaction.
STRINGi 9606.ENSP00000300452.

PTM databases

PhosphoSitei Q9Y3A0.

Polymorphism databases

DMDMi 226694194.

Proteomic databases

MaxQBi Q9Y3A0.
PaxDbi Q9Y3A0.
PRIDEi Q9Y3A0.

Protocols and materials databases

DNASUi 51117.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000300452 ; ENSP00000300452 ; ENSG00000167113 . [Q9Y3A0-1 ]
GeneIDi 51117.
KEGGi hsa:51117.
UCSCi uc004bur.4. human. [Q9Y3A0-1 ]

Organism-specific databases

CTDi 51117.
GeneCardsi GC09P131084.
HGNCi HGNC:19693. COQ4.
HPAi HPA042945.
MIMi 612898. gene.
neXtProti NX_Q9Y3A0.
PharmGKBi PA134957951.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5031.
HOGENOMi HOG000194110.
HOVERGENi HBG027006.
InParanoidi Q9Y3A0.
OMAi YEQRWEQ.
OrthoDBi EOG7S7SGB.
PhylomeDBi Q9Y3A0.
TreeFami TF314625.

Enzyme and pathway databases

UniPathwayi UPA00232 .

Miscellaneous databases

GeneWikii COQ4.
GenomeRNAii 51117.
NextBioi 53889.
PROi Q9Y3A0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y3A0.
Bgeei Q9Y3A0.
CleanExi HS_COQ4.
Genevestigatori Q9Y3A0.

Family and domain databases

HAMAPi MF_03111. Coq4.
InterProi IPR007715. Coq4.
IPR027540. Coq4_euk.
[Graphical view ]
Pfami PF05019. Coq4. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

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 9, 2014
This is version 98 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

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