Full text data of UQCRFS1
UQCRFS1
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Cytochrome b-c1 complex subunit Rieske, mitochondrial; 1.10.2.2 (Complex III subunit 5; Cytochrome b-c1 complex subunit 5; Rieske iron-sulfur protein; RISP; Ubiquinol-cytochrome c reductase iron-sulfur subunit; Cytochrome b-c1 complex subunit 11; Complex III subunit IX; Ubiquinol-cytochrome c reductase 8 kDa protein; Flags: Precursor)
Cytochrome b-c1 complex subunit Rieske, mitochondrial; 1.10.2.2 (Complex III subunit 5; Cytochrome b-c1 complex subunit 5; Rieske iron-sulfur protein; RISP; Ubiquinol-cytochrome c reductase iron-sulfur subunit; Cytochrome b-c1 complex subunit 11; Complex III subunit IX; Ubiquinol-cytochrome c reductase 8 kDa protein; Flags: Precursor)
UniProt
P47985
ID UCRI_HUMAN Reviewed; 274 AA.
AC P47985; A8K519; Q6NVX5; Q9UPH2;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 03-APR-2007, sequence version 2.
DT 22-JAN-2014, entry version 141.
DE RecName: Full=Cytochrome b-c1 complex subunit Rieske, mitochondrial;
DE EC=1.10.2.2;
DE AltName: Full=Complex III subunit 5;
DE AltName: Full=Cytochrome b-c1 complex subunit 5;
DE AltName: Full=Rieske iron-sulfur protein;
DE Short=RISP;
DE AltName: Full=Ubiquinol-cytochrome c reductase iron-sulfur subunit;
DE Contains:
DE RecName: Full=Cytochrome b-c1 complex subunit 11;
DE AltName: Full=Complex III subunit IX;
DE AltName: Full=Ubiquinol-cytochrome c reductase 8 kDa protein;
DE Flags: Precursor;
GN Name=UQCRFS1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ALA-6.
RX PubMed=2158323;
RA Nishikimi M., Hosokawa Y., Toda H., Suzuki H., Ozawa T.;
RT "The primary structure of human Rieske iron-sulfur protein of
RT mitochondrial cytochrome bc1 complex deduced from cDNA analysis.";
RL Biochem. Int. 20:155-160(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-6.
RX PubMed=7721092; DOI=10.1016/0378-1119(94)00683-J;
RA Pennacchio L., Bergmann A., Fukushima A., Salemi A., Okubo K.,
RA Lennon G.;
RT "Structure, sequence and location of the UQCRFS1 gene for the human
RT Rieske Fe-S protein.";
RL Gene 155:207-211(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-6.
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-6.
RC TISSUE=Brain, Lung, and Lymph;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PROTEIN SEQUENCE OF 79-90.
RC TISSUE=Kidney;
RX PubMed=9150947; DOI=10.1002/elps.1150180343;
RA Sarto C., Marocchi A., Sanchez J.-C., Giannone B., Frutiger S.,
RA Golaz O., Wilkins M.R., Doro G., Cappellano F., Hughes G.J.,
RA Hochstrasser D.F., Mocarelli P.;
RT "Renal cell carcinoma and normal kidney protein expression.";
RL Electrophoresis 18:599-604(1997).
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.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Component of the ubiquinol-cytochrome c reductase
CC complex (complex III or cytochrome b-c1 complex), which is a
CC respiratory chain that generates an electrochemical potential
CC coupled to ATP synthesis.
CC -!- FUNCTION: The transit peptide of the Rieske protein seems to form
CC part of the bc1 complex and is considered to be the subunit 11/IX
CC of that complex (By similarity).
CC -!- CATALYTIC ACTIVITY: QH(2) + 2 ferricytochrome c = Q + 2
CC ferrocytochrome c + 2 H(+).
CC -!- COFACTOR: Binds 1 2Fe-2S cluster per subunit (By similarity).
CC -!- SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory
CC subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core
CC proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight
CC proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9,
CC UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass
CC membrane protein.
CC -!- MISCELLANEOUS: The Rieske protein is a high potential 2Fe-2S
CC protein.
CC -!- SIMILARITY: Contains 1 Rieske domain.
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CC Distributed under the Creative Commons Attribution-NoDerivs License
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DR EMBL; L32977; AAC41754.1; -; Genomic_DNA.
DR EMBL; L32917; AAC41754.1; JOINED; Genomic_DNA.
DR EMBL; AK291134; BAF83823.1; -; mRNA.
DR EMBL; AC007786; AAD38242.1; -; Genomic_DNA.
DR EMBL; BC000649; AAH00649.1; -; mRNA.
DR EMBL; BC010035; AAH10035.1; -; mRNA.
DR EMBL; BC067832; AAH67832.1; -; mRNA.
DR RefSeq; NP_005994.2; NM_006003.2.
DR UniGene; Hs.743307; -.
DR ProteinModelPortal; P47985; -.
DR SMR; P47985; 1-57, 79-274.
DR IntAct; P47985; 6.
DR MINT; MINT-2803370; -.
DR STRING; 9606.ENSP00000306397; -.
DR PhosphoSite; P47985; -.
DR DMDM; 143811471; -.
DR OGP; P47985; -.
DR REPRODUCTION-2DPAGE; IPI00026964; -.
DR SWISS-2DPAGE; P47985; -.
DR UCD-2DPAGE; P47985; -.
DR PRIDE; P47985; -.
DR DNASU; 7386; -.
DR Ensembl; ENST00000304863; ENSP00000306397; ENSG00000169021.
DR GeneID; 7386; -.
DR KEGG; hsa:7386; -.
DR UCSC; uc002nsd.2; human.
DR CTD; 7386; -.
DR GeneCards; GC19M029698; -.
DR H-InvDB; HIX0041192; -.
DR HGNC; HGNC:12587; UQCRFS1.
DR HPA; HPA041863; -.
DR MIM; 191327; gene.
DR neXtProt; NX_P47985; -.
DR PharmGKB; PA37218; -.
DR HOVERGEN; HBG001040; -.
DR InParanoid; P47985; -.
DR KO; K00411; -.
DR OMA; DYRRAEV; -.
DR OrthoDB; EOG7GBFXQ; -.
DR PhylomeDB; P47985; -.
DR Reactome; REACT_111217; Metabolism.
DR ChiTaRS; UQCRFS1; human.
DR GeneWiki; UQCRFS1; -.
DR GenomeRNAi; 7386; -.
DR NextBio; 28920; -.
DR PRO; PR:P47985; -.
DR Bgee; P47985; -.
DR CleanEx; HS_UQCRFS1; -.
DR Genevestigator; P47985; -.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005750; C:mitochondrial respiratory chain complex III; NAS:UniProtKB.
DR GO; GO:0051537; F:2 iron, 2 sulfur cluster binding; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0008121; F:ubiquinol-cytochrome-c reductase activity; NAS:UniProtKB.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0046677; P:response to antibiotic; IEA:Ensembl.
DR GO; GO:0042493; P:response to drug; IEA:Ensembl.
DR GO; GO:0009725; P:response to hormone stimulus; IEA:Ensembl.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR Gene3D; 1.20.5.270; -; 1.
DR Gene3D; 2.102.10.10; -; 1.
DR InterPro; IPR011070; Globular_prot_asu/bsu.
DR InterPro; IPR017941; Rieske_2Fe-2S.
DR InterPro; IPR014349; Rieske_Fe-S_prot.
DR InterPro; IPR005805; Rieske_Fe-S_prot_C.
DR InterPro; IPR015248; Ubiqinol_cyt_c_Rdtase_N.
DR InterPro; IPR006317; Ubiquinol_cyt_c_Rdtase_Fe-S-su.
DR InterPro; IPR004192; Ubiquinol_cyt_Rdtase_TM.
DR PANTHER; PTHR10134; PTHR10134; 1.
DR Pfam; PF00355; Rieske; 1.
DR Pfam; PF09165; Ubiq-Cytc-red_N; 1.
DR Pfam; PF02921; UCR_TM; 1.
DR PRINTS; PR00162; RIESKE.
DR SUPFAM; SSF50022; SSF50022; 1.
DR SUPFAM; SSF56568; SSF56568; 1.
DR TIGRFAMs; TIGR01416; Rieske_proteo; 1.
DR PROSITE; PS51296; RIESKE; 1.
PE 1: Evidence at protein level;
KW 2Fe-2S; Complete proteome; Direct protein sequencing; Disulfide bond;
KW Electron transport; Iron; Iron-sulfur; Membrane; Metal-binding;
KW Mitochondrion; Mitochondrion inner membrane; Oxidoreductase;
KW Polymorphism; Reference proteome; Respiratory chain; Transit peptide;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 78 Cytochrome b-c1 complex subunit 11 (By
FT similarity).
FT /FTId=PRO_0000307241.
FT TRANSIT 1 78 Mitochondrion.
FT CHAIN 79 274 Cytochrome b-c1 complex subunit Rieske,
FT mitochondrial.
FT /FTId=PRO_0000030664.
FT TRANSMEM 103 140 Helical; (By similarity).
FT DOMAIN 187 272 Rieske.
FT METAL 217 217 Iron-sulfur (2Fe-2S) (By similarity).
FT METAL 219 219 Iron-sulfur (2Fe-2S); via pros nitrogen
FT (By similarity).
FT METAL 236 236 Iron-sulfur (2Fe-2S) (By similarity).
FT METAL 239 239 Iron-sulfur (2Fe-2S); via pros nitrogen
FT (By similarity).
FT DISULFID 222 238 By similarity.
FT VARIANT 6 6 S -> A (in dbSNP:rs8100724).
FT /FTId=VAR_051863.
FT CONFLICT 73 73 P -> H (in Ref. 5; AAH67832).
SQ SEQUENCE 274 AA; 29668 MW; 8DB51634DEB039B0 CRC64;
MLSVASRSGP FAPVLSATSR GVAGALRPLV QATVPATPEQ PVLDLKRPFL SRESLSGQAV
RRPLVASVGL NVPASVCYSH TDIKVPDFSE YRRLEVLDST KSSRESSEAR KGFSYLVTGV
TTVGVAYAAK NAVTQFVSSM SASADVLALA KIEIKLSDIP EGKNMAFKWR GKPLFVRHRT
QKEIEQEAAV ELSQLRDPQH DLDRVKKPEW VILIGVCTHL GCVPIANAGD FGGYYCPCHG
SHYDASGRIR LGPAPLNLEV PTYEFTSDDM VIVG
//
ID UCRI_HUMAN Reviewed; 274 AA.
AC P47985; A8K519; Q6NVX5; Q9UPH2;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 03-APR-2007, sequence version 2.
DT 22-JAN-2014, entry version 141.
DE RecName: Full=Cytochrome b-c1 complex subunit Rieske, mitochondrial;
DE EC=1.10.2.2;
DE AltName: Full=Complex III subunit 5;
DE AltName: Full=Cytochrome b-c1 complex subunit 5;
DE AltName: Full=Rieske iron-sulfur protein;
DE Short=RISP;
DE AltName: Full=Ubiquinol-cytochrome c reductase iron-sulfur subunit;
DE Contains:
DE RecName: Full=Cytochrome b-c1 complex subunit 11;
DE AltName: Full=Complex III subunit IX;
DE AltName: Full=Ubiquinol-cytochrome c reductase 8 kDa protein;
DE Flags: Precursor;
GN Name=UQCRFS1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT ALA-6.
RX PubMed=2158323;
RA Nishikimi M., Hosokawa Y., Toda H., Suzuki H., Ozawa T.;
RT "The primary structure of human Rieske iron-sulfur protein of
RT mitochondrial cytochrome bc1 complex deduced from cDNA analysis.";
RL Biochem. Int. 20:155-160(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-6.
RX PubMed=7721092; DOI=10.1016/0378-1119(94)00683-J;
RA Pennacchio L., Bergmann A., Fukushima A., Salemi A., Okubo K.,
RA Lennon G.;
RT "Structure, sequence and location of the UQCRFS1 gene for the human
RT Rieske Fe-S protein.";
RL Gene 155:207-211(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-6.
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-6.
RC TISSUE=Brain, Lung, and Lymph;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PROTEIN SEQUENCE OF 79-90.
RC TISSUE=Kidney;
RX PubMed=9150947; DOI=10.1002/elps.1150180343;
RA Sarto C., Marocchi A., Sanchez J.-C., Giannone B., Frutiger S.,
RA Golaz O., Wilkins M.R., Doro G., Cappellano F., Hughes G.J.,
RA Hochstrasser D.F., Mocarelli P.;
RT "Renal cell carcinoma and normal kidney protein expression.";
RL Electrophoresis 18:599-604(1997).
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.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Component of the ubiquinol-cytochrome c reductase
CC complex (complex III or cytochrome b-c1 complex), which is a
CC respiratory chain that generates an electrochemical potential
CC coupled to ATP synthesis.
CC -!- FUNCTION: The transit peptide of the Rieske protein seems to form
CC part of the bc1 complex and is considered to be the subunit 11/IX
CC of that complex (By similarity).
CC -!- CATALYTIC ACTIVITY: QH(2) + 2 ferricytochrome c = Q + 2
CC ferrocytochrome c + 2 H(+).
CC -!- COFACTOR: Binds 1 2Fe-2S cluster per subunit (By similarity).
CC -!- SUBUNIT: The bc1 complex contains 11 subunits: 3 respiratory
CC subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core
CC proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight
CC proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9,
CC UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Single-pass
CC membrane protein.
CC -!- MISCELLANEOUS: The Rieske protein is a high potential 2Fe-2S
CC protein.
CC -!- SIMILARITY: Contains 1 Rieske domain.
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DR EMBL; L32977; AAC41754.1; -; Genomic_DNA.
DR EMBL; L32917; AAC41754.1; JOINED; Genomic_DNA.
DR EMBL; AK291134; BAF83823.1; -; mRNA.
DR EMBL; AC007786; AAD38242.1; -; Genomic_DNA.
DR EMBL; BC000649; AAH00649.1; -; mRNA.
DR EMBL; BC010035; AAH10035.1; -; mRNA.
DR EMBL; BC067832; AAH67832.1; -; mRNA.
DR RefSeq; NP_005994.2; NM_006003.2.
DR UniGene; Hs.743307; -.
DR ProteinModelPortal; P47985; -.
DR SMR; P47985; 1-57, 79-274.
DR IntAct; P47985; 6.
DR MINT; MINT-2803370; -.
DR STRING; 9606.ENSP00000306397; -.
DR PhosphoSite; P47985; -.
DR DMDM; 143811471; -.
DR OGP; P47985; -.
DR REPRODUCTION-2DPAGE; IPI00026964; -.
DR SWISS-2DPAGE; P47985; -.
DR UCD-2DPAGE; P47985; -.
DR PRIDE; P47985; -.
DR DNASU; 7386; -.
DR Ensembl; ENST00000304863; ENSP00000306397; ENSG00000169021.
DR GeneID; 7386; -.
DR KEGG; hsa:7386; -.
DR UCSC; uc002nsd.2; human.
DR CTD; 7386; -.
DR GeneCards; GC19M029698; -.
DR H-InvDB; HIX0041192; -.
DR HGNC; HGNC:12587; UQCRFS1.
DR HPA; HPA041863; -.
DR MIM; 191327; gene.
DR neXtProt; NX_P47985; -.
DR PharmGKB; PA37218; -.
DR HOVERGEN; HBG001040; -.
DR InParanoid; P47985; -.
DR KO; K00411; -.
DR OMA; DYRRAEV; -.
DR OrthoDB; EOG7GBFXQ; -.
DR PhylomeDB; P47985; -.
DR Reactome; REACT_111217; Metabolism.
DR ChiTaRS; UQCRFS1; human.
DR GeneWiki; UQCRFS1; -.
DR GenomeRNAi; 7386; -.
DR NextBio; 28920; -.
DR PRO; PR:P47985; -.
DR Bgee; P47985; -.
DR CleanEx; HS_UQCRFS1; -.
DR Genevestigator; P47985; -.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005750; C:mitochondrial respiratory chain complex III; NAS:UniProtKB.
DR GO; GO:0051537; F:2 iron, 2 sulfur cluster binding; IEA:UniProtKB-KW.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0008121; F:ubiquinol-cytochrome-c reductase activity; NAS:UniProtKB.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0046677; P:response to antibiotic; IEA:Ensembl.
DR GO; GO:0042493; P:response to drug; IEA:Ensembl.
DR GO; GO:0009725; P:response to hormone stimulus; IEA:Ensembl.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR Gene3D; 1.20.5.270; -; 1.
DR Gene3D; 2.102.10.10; -; 1.
DR InterPro; IPR011070; Globular_prot_asu/bsu.
DR InterPro; IPR017941; Rieske_2Fe-2S.
DR InterPro; IPR014349; Rieske_Fe-S_prot.
DR InterPro; IPR005805; Rieske_Fe-S_prot_C.
DR InterPro; IPR015248; Ubiqinol_cyt_c_Rdtase_N.
DR InterPro; IPR006317; Ubiquinol_cyt_c_Rdtase_Fe-S-su.
DR InterPro; IPR004192; Ubiquinol_cyt_Rdtase_TM.
DR PANTHER; PTHR10134; PTHR10134; 1.
DR Pfam; PF00355; Rieske; 1.
DR Pfam; PF09165; Ubiq-Cytc-red_N; 1.
DR Pfam; PF02921; UCR_TM; 1.
DR PRINTS; PR00162; RIESKE.
DR SUPFAM; SSF50022; SSF50022; 1.
DR SUPFAM; SSF56568; SSF56568; 1.
DR TIGRFAMs; TIGR01416; Rieske_proteo; 1.
DR PROSITE; PS51296; RIESKE; 1.
PE 1: Evidence at protein level;
KW 2Fe-2S; Complete proteome; Direct protein sequencing; Disulfide bond;
KW Electron transport; Iron; Iron-sulfur; Membrane; Metal-binding;
KW Mitochondrion; Mitochondrion inner membrane; Oxidoreductase;
KW Polymorphism; Reference proteome; Respiratory chain; Transit peptide;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 78 Cytochrome b-c1 complex subunit 11 (By
FT similarity).
FT /FTId=PRO_0000307241.
FT TRANSIT 1 78 Mitochondrion.
FT CHAIN 79 274 Cytochrome b-c1 complex subunit Rieske,
FT mitochondrial.
FT /FTId=PRO_0000030664.
FT TRANSMEM 103 140 Helical; (By similarity).
FT DOMAIN 187 272 Rieske.
FT METAL 217 217 Iron-sulfur (2Fe-2S) (By similarity).
FT METAL 219 219 Iron-sulfur (2Fe-2S); via pros nitrogen
FT (By similarity).
FT METAL 236 236 Iron-sulfur (2Fe-2S) (By similarity).
FT METAL 239 239 Iron-sulfur (2Fe-2S); via pros nitrogen
FT (By similarity).
FT DISULFID 222 238 By similarity.
FT VARIANT 6 6 S -> A (in dbSNP:rs8100724).
FT /FTId=VAR_051863.
FT CONFLICT 73 73 P -> H (in Ref. 5; AAH67832).
SQ SEQUENCE 274 AA; 29668 MW; 8DB51634DEB039B0 CRC64;
MLSVASRSGP FAPVLSATSR GVAGALRPLV QATVPATPEQ PVLDLKRPFL SRESLSGQAV
RRPLVASVGL NVPASVCYSH TDIKVPDFSE YRRLEVLDST KSSRESSEAR KGFSYLVTGV
TTVGVAYAAK NAVTQFVSSM SASADVLALA KIEIKLSDIP EGKNMAFKWR GKPLFVRHRT
QKEIEQEAAV ELSQLRDPQH DLDRVKKPEW VILIGVCTHL GCVPIANAGD FGGYYCPCHG
SHYDASGRIR LGPAPLNLEV PTYEFTSDDM VIVG
//
MIM
191327
*RECORD*
*FIELD* NO
191327
*FIELD* TI
*191327 UBIQUINOL-CYTOCHROME c REDUCTASE, RIESKE IRON-SULFUR; UQCRFS1
*FIELD* TX
The Rieske iron-sulfur protein is a nuclear-encoded subunit of the
read moremammalian cytochrome bc1 complex (complex III) of the mitochondrial
respiratory chain. This complex, which transfers electrons from
ubiquinol to cytochrome c, has 1 mitochondrial-encoded subunit
(cytochrome b; MTCYB; 516020) and 9 to 10 subunits encoded by the
nuclear genome. Several of the genes encoding these subunits have been
mapped: cytochrome c1 (CYC1; 123980) to 8q24.3; ubiquinone-binding
protein (UQPC; 191330), also to chromosome 8; and ubiquinol-cytochrome c
reductase core protein II (UQCRC2; 191329) to 16p12. Duncan et al.
(1994) used in situ hybridization and somatic cell hybrid mapping to
localize the UQCRFS1 gene to 2 sites. They considered it likely that the
Rieske iron-sulfur protein gene maps to 22q13 since this region
hybridized consistently more strongly than did 19q12-q13.1. One may
represent a pseudogene.
A different conclusion on the mapping was arrived at by Pennacchio et
al. (1995). In their hands, mapping by hybridization to a panel of
monochromosomal hybrid cell lines indicated that a UQCRFS1 partial cDNA
was derived from either chromosome 19 or chromosome 22. By screening a
human chromosome 19-specific genomic cosmid library with a probe from
this cDNA sequence, they identified a corresponding cosmid. Portions of
this cosmid were sequenced directly. The exon, exon:intron junction, and
flanking sequences verified that this cosmid, indeed, contained the
genomic locus. Fluorescence in situ hybridization localized the cosmid
to 19q12.
*FIELD* RF
1. Duncan, A. M. V.; Anderson, L.; Duff, C.; Ozawa, T.; Suzuki, H.;
Worton, R.; Rozen, R.: Assignment of the gene (UQCRFS1) for the Rieske
iron-sulfur protein subunit of the mitochondrial cytochrome bc-1 complex
to the 22q13 and 19q12-q13.1 regions of the human genome. Genomics 21:
281-283, 1994.
2. Pennacchio, L. A.; Bergmann, A.; Fukushima, A.; Okubo, K.; Salemi,
A.; Lennon, G. G.: Structure, sequence and location of the UQCRFS1
gene for the human Rieske Fe-S protein. Gene 155: 207-211, 1995.
*FIELD* CD
Victor A. McKusick: 6/17/1994
*FIELD* ED
mark: 7/20/1995
jason: 6/17/1994
*RECORD*
*FIELD* NO
191327
*FIELD* TI
*191327 UBIQUINOL-CYTOCHROME c REDUCTASE, RIESKE IRON-SULFUR; UQCRFS1
*FIELD* TX
The Rieske iron-sulfur protein is a nuclear-encoded subunit of the
read moremammalian cytochrome bc1 complex (complex III) of the mitochondrial
respiratory chain. This complex, which transfers electrons from
ubiquinol to cytochrome c, has 1 mitochondrial-encoded subunit
(cytochrome b; MTCYB; 516020) and 9 to 10 subunits encoded by the
nuclear genome. Several of the genes encoding these subunits have been
mapped: cytochrome c1 (CYC1; 123980) to 8q24.3; ubiquinone-binding
protein (UQPC; 191330), also to chromosome 8; and ubiquinol-cytochrome c
reductase core protein II (UQCRC2; 191329) to 16p12. Duncan et al.
(1994) used in situ hybridization and somatic cell hybrid mapping to
localize the UQCRFS1 gene to 2 sites. They considered it likely that the
Rieske iron-sulfur protein gene maps to 22q13 since this region
hybridized consistently more strongly than did 19q12-q13.1. One may
represent a pseudogene.
A different conclusion on the mapping was arrived at by Pennacchio et
al. (1995). In their hands, mapping by hybridization to a panel of
monochromosomal hybrid cell lines indicated that a UQCRFS1 partial cDNA
was derived from either chromosome 19 or chromosome 22. By screening a
human chromosome 19-specific genomic cosmid library with a probe from
this cDNA sequence, they identified a corresponding cosmid. Portions of
this cosmid were sequenced directly. The exon, exon:intron junction, and
flanking sequences verified that this cosmid, indeed, contained the
genomic locus. Fluorescence in situ hybridization localized the cosmid
to 19q12.
*FIELD* RF
1. Duncan, A. M. V.; Anderson, L.; Duff, C.; Ozawa, T.; Suzuki, H.;
Worton, R.; Rozen, R.: Assignment of the gene (UQCRFS1) for the Rieske
iron-sulfur protein subunit of the mitochondrial cytochrome bc-1 complex
to the 22q13 and 19q12-q13.1 regions of the human genome. Genomics 21:
281-283, 1994.
2. Pennacchio, L. A.; Bergmann, A.; Fukushima, A.; Okubo, K.; Salemi,
A.; Lennon, G. G.: Structure, sequence and location of the UQCRFS1
gene for the human Rieske Fe-S protein. Gene 155: 207-211, 1995.
*FIELD* CD
Victor A. McKusick: 6/17/1994
*FIELD* ED
mark: 7/20/1995
jason: 6/17/1994