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Q99807

- COQ7_HUMAN

UniProt

Q99807 - COQ7_HUMAN

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Protein

Ubiquinone biosynthesis protein COQ7 homolog

Gene

COQ7

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

Functioni

Involved in lifespan determination in ubiquinone-independent manner. Involved in ubiquinone biosynthesis. Potential central metabolic regulator (By similarity).By similarity

Cofactori

Binds 2 iron ions per subunit.By similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi60 – 601Iron 1By similarity
Metal bindingi90 – 901Iron 1By similarity
Metal bindingi90 – 901Iron 2By similarity
Metal bindingi93 – 931Iron 1By similarity
Metal bindingi142 – 1421Iron 2By similarity
Metal bindingi178 – 1781Iron 1By similarity
Metal bindingi178 – 1781Iron 2By similarity
Metal bindingi181 – 1811Iron 2By similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. age-dependent response to oxidative stress Source: Ensembl
  2. cellular response to oxidative stress Source: Ensembl
  3. determination of adult lifespan Source: Ensembl
  4. in utero embryonic development Source: Ensembl
  5. mitochondrial ATP synthesis coupled electron transport Source: Ensembl
  6. mitochondrion morphogenesis Source: Ensembl
  7. neural tube formation Source: Ensembl
  8. neurogenesis Source: Ensembl
  9. small molecule metabolic process Source: Reactome
  10. ubiquinone biosynthetic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Ubiquinone biosynthesis

Keywords - Ligandi

Iron, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000167186-MONOMER.
ReactomeiREACT_160111. Ubiquinol biosynthesis.
UniPathwayiUPA00232.

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquinone biosynthesis protein COQ7 homolog
Alternative name(s):
Coenzyme Q biosynthesis protein 7 homolog
Timing protein clk-1 homolog
Gene namesi
Name:COQ7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:2244. COQ7.

Subcellular locationi

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Note: Synthesized as a preprotein that is imported into the mitochondrial matrix, where the sequence is cleaved off and the mature protein becomes loosely associated with the inner membrane.By similarity

GO - Cellular componenti

  1. mitochondrial inner membrane Source: UniProtKB-KW
  2. nucleus Source: LIFEdb
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA26761.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3636MitochondrionSequence AnalysisAdd
BLAST
Chaini37 – 217181Ubiquinone biosynthesis protein COQ7 homologPRO_0000079251Add
BLAST

Proteomic databases

MaxQBiQ99807.
PaxDbiQ99807.
PRIDEiQ99807.

PTM databases

PhosphoSiteiQ99807.

Expressioni

Tissue specificityi

Expressed dominantly in heart and skeletal muscle.

Gene expression databases

BgeeiQ99807.
CleanExiHS_COQ7.
ExpressionAtlasiQ99807. baseline and differential.
GenevestigatoriQ99807.

Interactioni

Subunit structurei

Interacts with ADCK4 and COQ6.1 Publication

Protein-protein interaction databases

BioGridi115523. 1 interaction.
STRINGi9606.ENSP00000322316.

Structurei

3D structure databases

ProteinModelPortaliQ99807.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati48 – 129821Add
BLAST
Repeati130 – 217882Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni48 – 2171702 X approximate tandem repeatsAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi4 – 96Poly-Ala

Sequence similaritiesi

Belongs to the COQ7 family.Curated

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiCOG2941.
GeneTreeiENSGT00390000014520.
HOGENOMiHOG000184972.
HOVERGENiHBG002214.
InParanoidiQ99807.
KOiK06134.
OMAiVGSMAFD.
OrthoDBiEOG73BVF0.
PhylomeDBiQ99807.
TreeFamiTF314559.

Family and domain databases

Gene3Di1.20.1260.10. 1 hit.
InterProiIPR009078. Ferritin-like_SF.
IPR012347. Ferritin-rel.
IPR011566. Ubq_synth_Coq7.
[Graphical view]
PANTHERiPTHR11237. PTHR11237. 1 hit.
PfamiPF03232. COQ7. 1 hit.
[Graphical view]
SUPFAMiSSF47240. SSF47240. 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: Q99807-1) [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
MSCAGAAAAP RLWRLRPGAR RSLSAYGRRT SVRFRSSGMT LDNISRAAVD
60 70 80 90 100
RIIRVDHAGE YGANRIYAGQ MAVLGRTSVG PVIQKMWDQE KDHLKKFNEL
110 120 130 140 150
MVTFRVRPTV LMPLWNVLGF ALGAGTALLG KEGAMACTVA VEESIAHHYN
160 170 180 190 200
NQIRTLMEED PEKYEELLQL IKKFRDEELE HHDIGLDHDA ELAPAYAVLK
210
SIIQAGCRVA IYLSERL
Length:217
Mass (Da):24,277
Last modified:November 2, 2010 - v3
Checksum:i37BEC3CEA621B77B
GO
Isoform 2 (identifier: Q99807-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: Missing.

Show »
Length:179
Mass (Da):20,158
Checksum:i9F9453EA670261DA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti45 – 451S → N in AAC69451. (PubMed:10501970)Curated
Sequence conflicti69 – 691G → W in CAB66582. (PubMed:11230166)Curated
Sequence conflicti72 – 721A → R in AAC69451. (PubMed:10501970)Curated
Sequence conflicti172 – 1721K → R in AAC69451. (PubMed:10501970)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031T → M.5 Publications
Corresponds to variant rs11074359 [ dbSNP | Ensembl ].
VAR_055148

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3838Missing in isoform 2. 1 PublicationVSP_039068Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF098948 mRNA. Translation: AAD43648.1.
AL136647 mRNA. Translation: CAB66582.1.
AK024291 mRNA. Translation: BAB14876.1.
AK315470 mRNA. Translation: BAG37856.1.
AC099518 Genomic DNA. No translation available.
CH471186 Genomic DNA. Translation: EAW50268.1.
BC003185 mRNA. Translation: AAH03185.1.
AF032900 mRNA. Translation: AAC69451.1.
U81276 mRNA. Translation: AAC51120.1.
CCDSiCCDS10574.1. [Q99807-1]
CCDS53993.1. [Q99807-2]
RefSeqiNP_001177912.1. NM_001190983.1. [Q99807-2]
NP_057222.2. NM_016138.4. [Q99807-1]
UniGeneiHs.157113.

Genome annotation databases

EnsembliENST00000321998; ENSP00000322316; ENSG00000167186. [Q99807-1]
ENST00000544894; ENSP00000442923; ENSG00000167186. [Q99807-2]
ENST00000568985; ENSP00000456734; ENSG00000167186. [Q99807-1]
GeneIDi10229.
KEGGihsa:10229.
UCSCiuc002dfr.3. human. [Q99807-1]

Polymorphism databases

DMDMi311033465.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF098948 mRNA. Translation: AAD43648.1 .
AL136647 mRNA. Translation: CAB66582.1 .
AK024291 mRNA. Translation: BAB14876.1 .
AK315470 mRNA. Translation: BAG37856.1 .
AC099518 Genomic DNA. No translation available.
CH471186 Genomic DNA. Translation: EAW50268.1 .
BC003185 mRNA. Translation: AAH03185.1 .
AF032900 mRNA. Translation: AAC69451.1 .
U81276 mRNA. Translation: AAC51120.1 .
CCDSi CCDS10574.1. [Q99807-1 ]
CCDS53993.1. [Q99807-2 ]
RefSeqi NP_001177912.1. NM_001190983.1. [Q99807-2 ]
NP_057222.2. NM_016138.4. [Q99807-1 ]
UniGenei Hs.157113.

3D structure databases

ProteinModelPortali Q99807.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115523. 1 interaction.
STRINGi 9606.ENSP00000322316.

PTM databases

PhosphoSitei Q99807.

Polymorphism databases

DMDMi 311033465.

Proteomic databases

MaxQBi Q99807.
PaxDbi Q99807.
PRIDEi Q99807.

Protocols and materials databases

DNASUi 10229.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000321998 ; ENSP00000322316 ; ENSG00000167186 . [Q99807-1 ]
ENST00000544894 ; ENSP00000442923 ; ENSG00000167186 . [Q99807-2 ]
ENST00000568985 ; ENSP00000456734 ; ENSG00000167186 . [Q99807-1 ]
GeneIDi 10229.
KEGGi hsa:10229.
UCSCi uc002dfr.3. human. [Q99807-1 ]

Organism-specific databases

CTDi 10229.
GeneCardsi GC16P019078.
H-InvDB HIX0202253.
HGNCi HGNC:2244. COQ7.
MIMi 601683. gene.
neXtProti NX_Q99807.
PharmGKBi PA26761.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2941.
GeneTreei ENSGT00390000014520.
HOGENOMi HOG000184972.
HOVERGENi HBG002214.
InParanoidi Q99807.
KOi K06134.
OMAi VGSMAFD.
OrthoDBi EOG73BVF0.
PhylomeDBi Q99807.
TreeFami TF314559.

Enzyme and pathway databases

UniPathwayi UPA00232 .
BioCyci MetaCyc:ENSG00000167186-MONOMER.
Reactomei REACT_160111. Ubiquinol biosynthesis.

Miscellaneous databases

GeneWikii COQ7.
GenomeRNAii 10229.
NextBioi 38733.
PROi Q99807.
SOURCEi Search...

Gene expression databases

Bgeei Q99807.
CleanExi HS_COQ7.
ExpressionAtlasi Q99807. baseline and differential.
Genevestigatori Q99807.

Family and domain databases

Gene3Di 1.20.1260.10. 1 hit.
InterProi IPR009078. Ferritin-like_SF.
IPR012347. Ferritin-rel.
IPR011566. Ubq_synth_Coq7.
[Graphical view ]
PANTHERi PTHR11237. PTHR11237. 1 hit.
Pfami PF03232. COQ7. 1 hit.
[Graphical view ]
SUPFAMi SSF47240. SSF47240. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Orthologues of the Caenorhabditis elegans longevity gene clk-1 in mouse and human."
    Asaumi S., Kuroyanagi H., Seki N., Shirasawa T.
    Genomics 58:293-301(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-103.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-103.
    Tissue: Brain.
  3. "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 MET-103.
  4. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    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: Brain.
  7. "Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging."
    Vajo Z., King L.M., Jonassen T., Wilkin D.J., Ho N., Munnich A., Clarke C.F., Francomano C.A.
    Mamm. Genome 10:1000-1004(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-217 (ISOFORMS 1/2), VARIANT MET-103.
  8. "Structural and functional conservation of the Caenorhabditis elegans timing gene clk-1."
    Ewbank J.J., Barnes T.M., Lakowski B., Lussier M., Bussey H., Hekimi S.
    Science 275:980-983(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-130 (ISOFORMS 1/2), VARIANT MET-103.
    Tissue: Placenta.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: INTERACTION WITH ADCK4 AND COQ6.

Entry informationi

Entry nameiCOQ7_HUMAN
AccessioniPrimary (citable) accession number: Q99807
Secondary accession number(s): B2RDA9
, Q9BTT7, Q9H0T5, Q9UEW5, Q9UNR5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: October 29, 2014
This is version 135 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 16
    Human chromosome 16: 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