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Q9BRT2

- UQCC2_HUMAN

UniProt

Q9BRT2 - UQCC2_HUMAN

Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 2

Gene

UQCC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells.1 Publication

    GO - Biological processi

    1. regulation of insulin secretion Source: UniProtKB
    2. regulation of oxidative phosphorylation Source: UniProtKB
    3. regulation of skeletal muscle cell differentiation Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ubiquinol-cytochrome-c reductase complex assembly factor 2
    Alternative name(s):
    Breast cancer-associated protein SGA-81M
    Mitochondrial nucleoid factor 1
    Mitochondrial protein M19
    Gene namesi
    Name:UQCC2
    Synonyms:C6orf125, MNF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21237. UQCC2.

    Subcellular locationi

    Mitochondrion matrixmitochondrion nucleoid. Mitochondrion. Mitochondrion intermembrane space By similarity. Mitochondrion matrix By similarity. Mitochondrion inner membrane By similarity
    Note: Predominantly expressed in the mitochondrial inner membrane.By similarity

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: UniProtKB
    2. mitochondrial intermembrane space Source: UniProtKB
    3. mitochondrial matrix Source: UniProtKB
    4. mitochondrial nucleoid Source: UniProtKB
    5. mitochondrion Source: UniProtKB
    6. nucleus Source: HPA

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoid

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
    PharmGKBiPA134970806.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 1313MitochondrionBy similarityAdd
    BLAST
    Chaini14 – 126113Ubiquinol-cytochrome-c reductase complex assembly factor 2PRO_0000089526Add
    BLAST

    Proteomic databases

    MaxQBiQ9BRT2.
    PaxDbiQ9BRT2.
    PRIDEiQ9BRT2.

    PTM databases

    PhosphoSiteiQ9BRT2.

    Expressioni

    Tissue specificityi

    Pancreas, skeletal muscle, kidney, liver and heart.1 Publication

    Gene expression databases

    ArrayExpressiQ9BRT2.
    BgeeiQ9BRT2.
    CleanExiHS_C6orf125.
    GenevestigatoriQ9BRT2.

    Organism-specific databases

    HPAiHPA039111.

    Interactioni

    Protein-protein interaction databases

    BioGridi124026. 3 interactions.
    IntActiQ9BRT2. 1 interaction.
    STRINGi9606.ENSP00000363348.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BRT2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiNOG45012.
    HOGENOMiHOG000007950.
    HOVERGENiHBG058554.
    InParanoidiQ9BRT2.
    KOiK17682.
    OMAiMSATRYR.
    OrthoDBiEOG76X62P.
    PhylomeDBiQ9BRT2.
    TreeFamiTF333267.

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9BRT2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAASRYRRFL KLCEEWPVDE TKRGRDLGAY LRQRVAQAFR EGENTQVAEP    50
    EACDQMYESL ARLHSNYYKH KYPRPRDTSF SGLSLEEYKL ILSTDTLEEL 100
    KEIDKGMWKK LQEKFAPKGP EEDHKA 126
    Length:126
    Mass (Da):14,875
    Last modified:June 1, 2001 - v1
    Checksum:i7B840C1AAC74D797
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY568085 mRNA. Translation: AAS68365.1.
    AK311835 mRNA. Translation: BAG34777.1.
    AL139044 Genomic DNA. Translation: CAI16458.1.
    CH471081 Genomic DNA. Translation: EAX03745.1.
    BC006007 mRNA. Translation: AAH06007.1.
    CCDSiCCDS4784.1.
    RefSeqiNP_115716.1. NM_032340.3.
    UniGeneiHs.745020.

    Genome annotation databases

    EnsembliENST00000607484; ENSP00000476140; ENSG00000137288.
    GeneIDi84300.
    KEGGihsa:84300.
    UCSCiuc003ofa.2. human.

    Polymorphism databases

    DMDMi73917719.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY568085 mRNA. Translation: AAS68365.1 .
    AK311835 mRNA. Translation: BAG34777.1 .
    AL139044 Genomic DNA. Translation: CAI16458.1 .
    CH471081 Genomic DNA. Translation: EAX03745.1 .
    BC006007 mRNA. Translation: AAH06007.1 .
    CCDSi CCDS4784.1.
    RefSeqi NP_115716.1. NM_032340.3.
    UniGenei Hs.745020.

    3D structure databases

    ProteinModelPortali Q9BRT2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124026. 3 interactions.
    IntActi Q9BRT2. 1 interaction.
    STRINGi 9606.ENSP00000363348.

    PTM databases

    PhosphoSitei Q9BRT2.

    Polymorphism databases

    DMDMi 73917719.

    Proteomic databases

    MaxQBi Q9BRT2.
    PaxDbi Q9BRT2.
    PRIDEi Q9BRT2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000607484 ; ENSP00000476140 ; ENSG00000137288 .
    GeneIDi 84300.
    KEGGi hsa:84300.
    UCSCi uc003ofa.2. human.

    Organism-specific databases

    CTDi 84300.
    GeneCardsi GC06M033669.
    H-InvDB HIX0005782.
    HGNCi HGNC:21237. UQCC2.
    HPAi HPA039111.
    MIMi 614461. gene.
    neXtProti NX_Q9BRT2.
    Orphaneti 1460. Isolated CoQ-cytochrome C reductase deficiency.
    PharmGKBi PA134970806.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45012.
    HOGENOMi HOG000007950.
    HOVERGENi HBG058554.
    InParanoidi Q9BRT2.
    KOi K17682.
    OMAi MSATRYR.
    OrthoDBi EOG76X62P.
    PhylomeDBi Q9BRT2.
    TreeFami TF333267.

    Miscellaneous databases

    GenomeRNAii 84300.
    NextBioi 73964.
    PROi Q9BRT2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BRT2.
    Bgeei Q9BRT2.
    CleanExi HS_C6orf125.
    Genevestigatori Q9BRT2.

    Family and domain databases

    ProtoNeti Search...

    Publicationsi

    1. "Breast cancer associated protein."
      Petroziello J.M.
      Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    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].
      Tissue: Cerebellum.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
      Tissue: Brain.
    6. "Association of a novel mitochondrial protein M19 with mitochondrial nucleoids."
      Sumitani M., Kasashima K., Ohta E., Kang D., Endo H.
      J. Biochem. 146:725-732(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic beta-cells through modulation of respiratory chain activity."
      Cambier L., Rassam P., Chabi B., Mezghenna K., Gross R., Eveno E., Auffray C., Wrutniak-Cabello C., Lajoix A.D., Pomies P.
      PLoS ONE 7:E31815-E31815(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiUQCC2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BRT2
    Secondary accession number(s): B2R4I0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 30, 2005
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 89 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 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3