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Q9BRT2

- UQCC2_HUMAN

UniProt

Q9BRT2 - UQCC2_HUMAN

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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 2

Gene
UQCC2, C6orf125, MNF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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.2 Publications

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
Complete GO annotation...

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 – 1313Mitochondrion By 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.

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

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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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 88 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

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