UQCC2_HUMAN
ID UQCC2_HUMAN Reviewed; 126 AA.
AC Q9BRT2; B2R4I0;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Ubiquinol-cytochrome-c reductase complex assembly factor 2;
DE AltName: Full=Breast cancer-associated protein SGA-81M;
DE AltName: Full=Mitochondrial nucleoid factor 1;
DE AltName: Full=Mitochondrial protein M19;
DE Flags: Precursor;
GN Name=UQCC2; Synonyms=C6orf125, MNF1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Petroziello J.M.;
RT "Breast cancer associated protein.";
RL Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=19643811; DOI=10.1093/jb/mvp118;
RA Sumitani M., Kasashima K., Ohta E., Kang D., Endo H.;
RT "Association of a novel mitochondrial protein M19 with mitochondrial
RT nucleoids.";
RL J. Biochem. 146:725-732(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [8]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=22363741; DOI=10.1371/journal.pone.0031815;
RA Cambier L., Rassam P., Chabi B., Mezghenna K., Gross R., Eveno E.,
RA Auffray C., Wrutniak-Cabello C., Lajoix A.D., Pomies P.;
RT "M19 modulates skeletal muscle differentiation and insulin secretion in
RT pancreatic beta-cells through modulation of respiratory chain activity.";
RL PLoS ONE 7:E31815-E31815(2012).
RN [9]
RP FUNCTION, INTERACTION WITH UQCC1, AND INVOLVEMENT IN MC3DN7.
RX PubMed=24385928; DOI=10.1371/journal.pgen.1004034;
RA Tucker E.J., Wanschers B.F., Szklarczyk R., Mountford H.S.,
RA Wijeyeratne X.W., van den Brand M.A., Leenders A.M., Rodenburg R.J.,
RA Reljic B., Compton A.G., Frazier A.E., Bruno D.L., Christodoulou J.,
RA Endo H., Ryan M.T., Nijtmans L.G., Huynen M.A., Thorburn D.R.;
RT "Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III
RT deficiency associated with perturbed cytochrome b protein expression.";
RL PLoS Genet. 9:E1004034-E1004034(2013).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Required for the assembly of the ubiquinol-cytochrome c
CC reductase complex (mitochondrial respiratory chain complex III or
CC cytochrome b-c1 complex). Plays a role in the modulation of respiratory
CC chain activities such as oxygen consumption and ATP production and via
CC its modulation of the respiratory chain activity can regulate skeletal
CC muscle differentiation and insulin secretion by pancreatic beta-cells.
CC Involved in cytochrome b translation and/or stability.
CC {ECO:0000269|PubMed:22363741, ECO:0000269|PubMed:24385928}.
CC -!- SUBUNIT: Interacts with UQCC1. {ECO:0000269|PubMed:24385928}.
CC -!- INTERACTION:
CC Q9BRT2; P55273: CDKN2D; NbExp=3; IntAct=EBI-1054584, EBI-745859;
CC Q9BRT2; Q8IYI6: EXOC8; NbExp=3; IntAct=EBI-1054584, EBI-742102;
CC Q9BRT2; Q9P2W3: GNG13; NbExp=3; IntAct=EBI-1054584, EBI-11427343;
CC Q9BRT2; Q13064: MKRN3; NbExp=3; IntAct=EBI-1054584, EBI-2340269;
CC Q9BRT2; Q9Y605: MRFAP1; NbExp=3; IntAct=EBI-1054584, EBI-995714;
CC Q9BRT2; Q9H7Z3: NRDE2; NbExp=3; IntAct=EBI-1054584, EBI-1042642;
CC Q9BRT2; P60880-2: SNAP25; NbExp=3; IntAct=EBI-1054584, EBI-12177361;
CC Q9BRT2; P0DI81-3: TRAPPC2; NbExp=3; IntAct=EBI-1054584, EBI-11961968;
CC Q9BRT2; Q99757: TXN2; NbExp=3; IntAct=EBI-1054584, EBI-2932492;
CC Q9BRT2; Q7L2R6-2: ZNF765; NbExp=3; IntAct=EBI-1054584, EBI-12834294;
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid.
CC Mitochondrion. Mitochondrion intermembrane space {ECO:0000250}.
CC Mitochondrion matrix {ECO:0000250}. Mitochondrion inner membrane
CC {ECO:0000250}. Note=Predominantly expressed in the mitochondrial inner
CC membrane. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Pancreas, skeletal muscle, kidney, liver and heart.
CC {ECO:0000269|PubMed:22363741}.
CC -!- DISEASE: Mitochondrial complex III deficiency, nuclear 7 (MC3DN7)
CC [MIM:615824]: A form of mitochondrial complex III deficiency, a
CC disorder of the mitochondrial respiratory chain resulting in a highly
CC variable phenotype depending on which tissues are affected. MC3DN7 is
CC characterized by severe intrauterine growth retardation, neonatal
CC lactic acidosis and renal tubular dysfunction. Additional clinical
CC features include a dysmorphic facial appearance, delayed psychomotor
CC development, autistic features, aggressive behavior, and mild
CC sensorineural hearing loss. {ECO:0000269|PubMed:24385928}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
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DR EMBL; AY568085; AAS68365.1; -; mRNA.
DR EMBL; AK311835; BAG34777.1; -; mRNA.
DR EMBL; AL139044; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03745.1; -; Genomic_DNA.
DR EMBL; BC006007; AAH06007.1; -; mRNA.
DR CCDS; CCDS4784.1; -.
DR RefSeq; NP_115716.1; NM_032340.3.
DR AlphaFoldDB; Q9BRT2; -.
DR SMR; Q9BRT2; -.
DR BioGRID; 124026; 52.
DR IntAct; Q9BRT2; 33.
DR STRING; 9606.ENSP00000476140; -.
DR GlyGen; Q9BRT2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9BRT2; -.
DR PhosphoSitePlus; Q9BRT2; -.
DR SwissPalm; Q9BRT2; -.
DR BioMuta; UQCC2; -.
DR DMDM; 73917719; -.
DR EPD; Q9BRT2; -.
DR jPOST; Q9BRT2; -.
DR MassIVE; Q9BRT2; -.
DR MaxQB; Q9BRT2; -.
DR PaxDb; Q9BRT2; -.
DR PeptideAtlas; Q9BRT2; -.
DR PRIDE; Q9BRT2; -.
DR ProteomicsDB; 78827; -.
DR TopDownProteomics; Q9BRT2; -.
DR Antibodypedia; 64241; 58 antibodies from 17 providers.
DR DNASU; 84300; -.
DR Ensembl; ENST00000607484.6; ENSP00000476140.1; ENSG00000137288.10.
DR GeneID; 84300; -.
DR KEGG; hsa:84300; -.
DR MANE-Select; ENST00000607484.6; ENSP00000476140.1; NM_032340.4; NP_115716.1.
DR UCSC; uc003ofa.3; human.
DR CTD; 84300; -.
DR DisGeNET; 84300; -.
DR GeneCards; UQCC2; -.
DR HGNC; HGNC:21237; UQCC2.
DR HPA; ENSG00000137288; Low tissue specificity.
DR MalaCards; UQCC2; -.
DR MIM; 614461; gene.
DR MIM; 615824; phenotype.
DR neXtProt; NX_Q9BRT2; -.
DR OpenTargets; ENSG00000137288; -.
DR Orphanet; 1460; Isolated complex III deficiency.
DR PharmGKB; PA134970806; -.
DR VEuPathDB; HostDB:ENSG00000137288; -.
DR eggNOG; ENOG502S2M4; Eukaryota.
DR GeneTree; ENSGT00510000048041; -.
DR HOGENOM; CLU_162766_0_0_1; -.
DR InParanoid; Q9BRT2; -.
DR OMA; YKEKFPR; -.
DR OrthoDB; 1508191at2759; -.
DR PhylomeDB; Q9BRT2; -.
DR TreeFam; TF333267; -.
DR PathwayCommons; Q9BRT2; -.
DR SignaLink; Q9BRT2; -.
DR BioGRID-ORCS; 84300; 108 hits in 1069 CRISPR screens.
DR ChiTaRS; UQCC2; human.
DR GenomeRNAi; 84300; -.
DR Pharos; Q9BRT2; Tbio.
DR PRO; PR:Q9BRT2; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9BRT2; protein.
DR Bgee; ENSG00000137288; Expressed in apex of heart and 177 other tissues.
DR ExpressionAtlas; Q9BRT2; baseline and differential.
DR Genevisible; Q9BRT2; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; ISS:UniProtKB.
DR GO; GO:0005758; C:mitochondrial intermembrane space; ISS:UniProtKB.
DR GO; GO:0005759; C:mitochondrial matrix; ISS:UniProtKB.
DR GO; GO:0042645; C:mitochondrial nucleoid; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0016604; C:nuclear body; IDA:HPA.
DR GO; GO:0034551; P:mitochondrial respiratory chain complex III assembly; IDA:UniProtKB.
DR GO; GO:0070131; P:positive regulation of mitochondrial translation; IDA:UniProtKB.
DR GO; GO:0050796; P:regulation of insulin secretion; ISS:UniProtKB.
DR GO; GO:0002082; P:regulation of oxidative phosphorylation; IMP:UniProtKB.
DR GO; GO:2001014; P:regulation of skeletal muscle cell differentiation; ISS:UniProtKB.
DR InterPro; IPR037698; UQCC2.
DR PANTHER; PTHR34260; PTHR34260; 1.
PE 1: Evidence at protein level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane;
KW Mitochondrion nucleoid; Primary mitochondrial disease; Reference proteome;
KW Transit peptide.
FT TRANSIT 1..13
FT /note="Mitochondrion"
FT /evidence="ECO:0000250"
FT CHAIN 14..126
FT /note="Ubiquinol-cytochrome-c reductase complex assembly
FT factor 2"
FT /id="PRO_0000089526"
SQ SEQUENCE 126 AA; 14875 MW; 7B840C1AAC74D797 CRC64;
MAASRYRRFL KLCEEWPVDE TKRGRDLGAY LRQRVAQAFR EGENTQVAEP EACDQMYESL
ARLHSNYYKH KYPRPRDTSF SGLSLEEYKL ILSTDTLEEL KEIDKGMWKK LQEKFAPKGP
EEDHKA
