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Protein

Ubiquinol-cytochrome-c reductase complex assembly factor 2

Gene

UQCC2

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

Functioni

Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). 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. Involved in cytochrome b translation and/or stability.2 Publications

GO - Biological processi

  • mitochondrial respiratory chain complex III assembly Source: UniProtKB
  • positive regulation of cellular protein catabolic process Source: UniProtKB
  • positive regulation of mitochondrial translation Source: UniProtKB
  • regulation of insulin secretion Source: UniProtKB
  • regulation of oxidative phosphorylation Source: UniProtKB
  • 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 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21237. UQCC2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrial intermembrane space Source: UniProtKB
  • mitochondrial matrix Source: UniProtKB
  • mitochondrial nucleoid Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoid

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex III deficiency, nuclear 7 (MC3DN7)1 Publication

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

Disease descriptionA form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss.

See also OMIM:615824

Organism-specific databases

MIMi615824. phenotype.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA134970806.

Polymorphism and mutation databases

DMDMi73917719.

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

BgeeiQ9BRT2.
CleanExiHS_C6orf125.
ExpressionAtlasiQ9BRT2. baseline and differential.
GenevisibleiQ9BRT2. HS.

Organism-specific databases

HPAiHPA039111.

Interactioni

Subunit structurei

Interacts with UQCC1.1 Publication

Protein-protein interaction databases

BioGridi124026. 12 interactions.
IntActiQ9BRT2. 4 interactions.
STRINGi9606.ENSP00000363348.

Structurei

3D structure databases

ProteinModelPortaliQ9BRT2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG45012.
GeneTreeiENSGT00510000048041.
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

        10         20         30         40         50
MAASRYRRFL KLCEEWPVDE TKRGRDLGAY LRQRVAQAFR EGENTQVAEP
60 70 80 90 100
EACDQMYESL ARLHSNYYKH KYPRPRDTSF SGLSLEEYKL ILSTDTLEEL
110 120
KEIDKGMWKK LQEKFAPKGP EEDHKA
Length:126
Mass (Da):14,875
Last modified:June 1, 2001 - v1
Checksum:i7B840C1AAC74D797
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9BRT2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124026. 12 interactions.
IntActiQ9BRT2. 4 interactions.
STRINGi9606.ENSP00000363348.

PTM databases

PhosphoSiteiQ9BRT2.

Polymorphism and mutation databases

DMDMi73917719.

Proteomic databases

MaxQBiQ9BRT2.
PaxDbiQ9BRT2.
PRIDEiQ9BRT2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi84300.
GeneCardsiGC06M033669.
H-InvDBHIX0005782.
HGNCiHGNC:21237. UQCC2.
HPAiHPA039111.
MIMi614461. gene.
615824. phenotype.
neXtProtiNX_Q9BRT2.
Orphaneti1460. Isolated CoQ-cytochrome C reductase deficiency.
PharmGKBiPA134970806.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG45012.
GeneTreeiENSGT00510000048041.
HOGENOMiHOG000007950.
HOVERGENiHBG058554.
InParanoidiQ9BRT2.
KOiK17682.
OMAiMSATRYR.
OrthoDBiEOG76X62P.
PhylomeDBiQ9BRT2.
TreeFamiTF333267.

Miscellaneous databases

GenomeRNAii84300.
NextBioi73964.
PROiQ9BRT2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BRT2.
CleanExiHS_C6orf125.
ExpressionAtlasiQ9BRT2. baseline and differential.
GenevisibleiQ9BRT2. HS.

Family and domain databases

ProtoNetiSearch...

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.
  9. Cited for: FUNCTION, INTERACTION WITH UQCC1, INVOLVEMENT IN MC3DN7.

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: June 24, 2015
This is version 95 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

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.