Full text data of CYC1
CYC1
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Cytochrome c1, heme protein, mitochondrial (Complex III subunit 4; Complex III subunit IV; Cytochrome b-c1 complex subunit 4; Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit; Cytochrome c-1; Flags: Precursor)
Cytochrome c1, heme protein, mitochondrial (Complex III subunit 4; Complex III subunit IV; Cytochrome b-c1 complex subunit 4; Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit; Cytochrome c-1; Flags: Precursor)
UniProt
P08574
ID CY1_HUMAN Reviewed; 325 AA.
AC P08574; Q5U062; Q6FHS7;
DT 01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
read moreDT 02-NOV-2010, sequence version 3.
DT 22-JAN-2014, entry version 139.
DE RecName: Full=Cytochrome c1, heme protein, mitochondrial;
DE AltName: Full=Complex III subunit 4;
DE AltName: Full=Complex III subunit IV;
DE AltName: Full=Cytochrome b-c1 complex subunit 4;
DE AltName: Full=Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit;
DE Short=Cytochrome c-1;
DE Flags: Precursor;
GN Name=CYC1;
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 VARIANTS VAL-76 AND VAL-89.
RX PubMed=2836796; DOI=10.1093/nar/16.8.3577;
RA Nishikimi M., Ohta S., Suzuki H., Tanaka T., Kikkawa F., Tanaka M.,
RA Kagawa Y., Ozawa T.;
RT "Nucleotide sequence of a cDNA encoding the precursor to human
RT cytochrome c1.";
RL Nucleic Acids Res. 16:3577-3577(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-76.
RX PubMed=2536365;
RA Suzuki H., Hosokawa Y., Nishikimi M., Ozawa T.;
RT "Structural organization of the human mitochondrial cytochrome c1
RT gene.";
RL J. Biol. Chem. 264:1368-1374(1989).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-76.
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S.,
RA Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W.,
RA Korn B., Zuo D., Hu Y., LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-76.
RG NIEHS SNPs program;
RL Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-76.
RC TISSUE=Brain, Lung, and Skin;
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 [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 99-325.
RX PubMed=3036122; DOI=10.1016/0006-291X(87)91283-6;
RA Nishikimi M., Suzuki H., Ohta S., Sakurai T., Shimomura Y., Tanaka M.,
RA Kagawa Y., Ozawa T.;
RT "Isolation of a cDNA clone for human cytochrome c1 from a lambda gt11
RT expression library.";
RL Biochem. Biophys. Res. Commun. 145:34-39(1987).
RN [9]
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).
RN [10]
RP VARIANT VAL-89.
RX PubMed=10453733; DOI=10.1007/s004390050988;
RA Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B.,
RA Munnich A., Kachaner J., Rustin P., Roetig A.;
RT "A mitochondrial cytochrome b mutation but no mutations of nuclearly
RT encoded subunits in ubiquinol cytochrome c reductase (complex III)
RT deficiency.";
RL Hum. Genet. 104:460-466(1999).
CC -!- FUNCTION: This is the heme-containing component of the cytochrome
CC b-c1 complex, which accepts electrons from Rieske protein and
CC transfers electrons to cytochrome c in the mitochondrial
CC respiratory chain.
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; Intermembrane side.
CC -!- PTM: Binds 1 heme group per subunit.
CC -!- SIMILARITY: Belongs to the cytochrome c family.
CC -!- SIMILARITY: Contains 1 cytochrome c domain.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/cyc1/";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; M16597; AAA35730.1; -; mRNA.
DR EMBL; J04444; AAA52135.1; -; Genomic_DNA.
DR EMBL; CR541674; CAG46475.1; -; mRNA.
DR EMBL; BT019798; AAV38601.1; -; mRNA.
DR EMBL; DQ300360; ABB96244.1; -; Genomic_DNA.
DR EMBL; AC104592; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001006; AAH01006.1; -; mRNA.
DR EMBL; BC015616; AAH15616.1; -; mRNA.
DR EMBL; BC020566; AAH20566.1; -; mRNA.
DR EMBL; X06994; CAA30052.1; -; mRNA.
DR PIR; A31481; S00680.
DR RefSeq; NP_001907.2; NM_001916.3.
DR UniGene; Hs.289271; -.
DR ProteinModelPortal; P08574; -.
DR SMR; P08574; 85-325.
DR IntAct; P08574; 5.
DR MINT; MINT-3006365; -.
DR STRING; 9606.ENSP00000317159; -.
DR PhosphoSite; P08574; -.
DR DMDM; 311033458; -.
DR PaxDb; P08574; -.
DR PRIDE; P08574; -.
DR DNASU; 1537; -.
DR Ensembl; ENST00000318911; ENSP00000317159; ENSG00000179091.
DR GeneID; 1537; -.
DR KEGG; hsa:1537; -.
DR UCSC; uc003zay.3; human.
DR CTD; 1537; -.
DR GeneCards; GC08P145149; -.
DR HGNC; HGNC:2579; CYC1.
DR HPA; HPA001247; -.
DR MIM; 123980; gene.
DR neXtProt; NX_P08574; -.
DR PharmGKB; PA27077; -.
DR eggNOG; COG2857; -.
DR HOGENOM; HOG000003867; -.
DR HOVERGEN; HBG001239; -.
DR InParanoid; P08574; -.
DR KO; K00413; -.
DR OMA; MAPPIYT; -.
DR OrthoDB; EOG7GBFX7; -.
DR PhylomeDB; P08574; -.
DR Reactome; REACT_111217; Metabolism.
DR Reactome; REACT_17015; Metabolism of proteins.
DR ChiTaRS; CYC1; human.
DR GeneWiki; CYC1; -.
DR GenomeRNAi; 1537; -.
DR NextBio; 6357; -.
DR PRO; PR:P08574; -.
DR Bgee; P08574; -.
DR CleanEx; HS_CYC1; -.
DR Genevestigator; P08574; -.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0070469; C:respiratory chain; IEA:UniProtKB-KW.
DR GO; GO:0045155; F:electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity; TAS:ProtInc.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR InterPro; IPR009056; Cyt_c-like_dom.
DR InterPro; IPR002326; Cyt_c1.
DR InterPro; IPR021157; Cyt_c1_TM_anchor_C.
DR PANTHER; PTHR10266; PTHR10266; 1.
DR Pfam; PF02167; Cytochrom_C1; 1.
DR PRINTS; PR00603; CYTOCHROMEC1.
DR SUPFAM; SSF46626; SSF46626; 1.
DR SUPFAM; SSF81496; SSF81496; 1.
DR PROSITE; PS51007; CYTC; FALSE_NEG.
PE 1: Evidence at protein level;
KW Complete proteome; Electron transport; Heme; Iron; Membrane;
KW Metal-binding; Mitochondrion; Mitochondrion inner membrane;
KW Polymorphism; Reference proteome; Respiratory chain; Transit peptide;
KW Transmembrane; Transmembrane helix; Transport.
FT TRANSIT 1 84 Mitochondrion.
FT CHAIN 85 325 Cytochrome c1, heme protein,
FT mitochondrial.
FT /FTId=PRO_0000006554.
FT TRANSMEM 292 306 Helical; Note=Anchors to the membrane;
FT (Potential).
FT DOMAIN 108 209 Cytochrome c.
FT METAL 125 125 Iron (heme axial ligand).
FT METAL 244 244 Iron (heme axial ligand) (By similarity).
FT BINDING 121 121 Heme (covalent).
FT BINDING 124 124 Heme (covalent).
FT VARIANT 76 76 M -> V (in dbSNP:rs7820984).
FT /FTId=VAR_025163.
FT VARIANT 89 89 L -> V.
FT /FTId=VAR_013631.
SQ SEQUENCE 325 AA; 35422 MW; CC8EA2E60E96BBDC CRC64;
MAAAAASLRG VVLGPRGAGL PGARARGLLC SARPGQLPLR TPQAVALSSK SGLSRGRKVM
LSALGMLAAG GAGLAMALHS AVSASDLELH PPSYPWSHRG LLSSLDHTSI RRGFQVYKQV
CASCHSMDFV AYRHLVGVCY TEDEAKELAA EVEVQDGPNE DGEMFMRPGK LFDYFPKPYP
NSEAARAANN GALPPDLSYI VRARHGGEDY VFSLLTGYCE PPTGVSLREG LYFNPYFPGQ
AIAMAPPIYT DVLEFDDGTP ATMSQIAKDV CTFLRWASEP EHDHRKRMGL KMLMMMALLV
PLVYTIKRHK WSVLKSRKLA YRPPK
//
ID CY1_HUMAN Reviewed; 325 AA.
AC P08574; Q5U062; Q6FHS7;
DT 01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
read moreDT 02-NOV-2010, sequence version 3.
DT 22-JAN-2014, entry version 139.
DE RecName: Full=Cytochrome c1, heme protein, mitochondrial;
DE AltName: Full=Complex III subunit 4;
DE AltName: Full=Complex III subunit IV;
DE AltName: Full=Cytochrome b-c1 complex subunit 4;
DE AltName: Full=Ubiquinol-cytochrome-c reductase complex cytochrome c1 subunit;
DE Short=Cytochrome c-1;
DE Flags: Precursor;
GN Name=CYC1;
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 VARIANTS VAL-76 AND VAL-89.
RX PubMed=2836796; DOI=10.1093/nar/16.8.3577;
RA Nishikimi M., Ohta S., Suzuki H., Tanaka T., Kikkawa F., Tanaka M.,
RA Kagawa Y., Ozawa T.;
RT "Nucleotide sequence of a cDNA encoding the precursor to human
RT cytochrome c1.";
RL Nucleic Acids Res. 16:3577-3577(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-76.
RX PubMed=2536365;
RA Suzuki H., Hosokawa Y., Nishikimi M., Ozawa T.;
RT "Structural organization of the human mitochondrial cytochrome c1
RT gene.";
RL J. Biol. Chem. 264:1368-1374(1989).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-76.
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S.,
RA Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W.,
RA Korn B., Zuo D., Hu Y., LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT VAL-76.
RG NIEHS SNPs program;
RL Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S.,
RA Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A.,
RA Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Allen N.R., Anderson S., Asakawa T., Blechschmidt K., Bloom T.,
RA Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K.,
RA DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G.,
RA Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B.,
RA Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C.,
RA O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K.,
RA Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R.,
RA Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K.,
RA Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q.,
RA Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N.,
RA Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT VAL-76.
RC TISSUE=Brain, Lung, and Skin;
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 [8]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 99-325.
RX PubMed=3036122; DOI=10.1016/0006-291X(87)91283-6;
RA Nishikimi M., Suzuki H., Ohta S., Sakurai T., Shimomura Y., Tanaka M.,
RA Kagawa Y., Ozawa T.;
RT "Isolation of a cDNA clone for human cytochrome c1 from a lambda gt11
RT expression library.";
RL Biochem. Biophys. Res. Commun. 145:34-39(1987).
RN [9]
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).
RN [10]
RP VARIANT VAL-89.
RX PubMed=10453733; DOI=10.1007/s004390050988;
RA Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B.,
RA Munnich A., Kachaner J., Rustin P., Roetig A.;
RT "A mitochondrial cytochrome b mutation but no mutations of nuclearly
RT encoded subunits in ubiquinol cytochrome c reductase (complex III)
RT deficiency.";
RL Hum. Genet. 104:460-466(1999).
CC -!- FUNCTION: This is the heme-containing component of the cytochrome
CC b-c1 complex, which accepts electrons from Rieske protein and
CC transfers electrons to cytochrome c in the mitochondrial
CC respiratory chain.
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; Intermembrane side.
CC -!- PTM: Binds 1 heme group per subunit.
CC -!- SIMILARITY: Belongs to the cytochrome c family.
CC -!- SIMILARITY: Contains 1 cytochrome c domain.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/cyc1/";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; M16597; AAA35730.1; -; mRNA.
DR EMBL; J04444; AAA52135.1; -; Genomic_DNA.
DR EMBL; CR541674; CAG46475.1; -; mRNA.
DR EMBL; BT019798; AAV38601.1; -; mRNA.
DR EMBL; DQ300360; ABB96244.1; -; Genomic_DNA.
DR EMBL; AC104592; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC001006; AAH01006.1; -; mRNA.
DR EMBL; BC015616; AAH15616.1; -; mRNA.
DR EMBL; BC020566; AAH20566.1; -; mRNA.
DR EMBL; X06994; CAA30052.1; -; mRNA.
DR PIR; A31481; S00680.
DR RefSeq; NP_001907.2; NM_001916.3.
DR UniGene; Hs.289271; -.
DR ProteinModelPortal; P08574; -.
DR SMR; P08574; 85-325.
DR IntAct; P08574; 5.
DR MINT; MINT-3006365; -.
DR STRING; 9606.ENSP00000317159; -.
DR PhosphoSite; P08574; -.
DR DMDM; 311033458; -.
DR PaxDb; P08574; -.
DR PRIDE; P08574; -.
DR DNASU; 1537; -.
DR Ensembl; ENST00000318911; ENSP00000317159; ENSG00000179091.
DR GeneID; 1537; -.
DR KEGG; hsa:1537; -.
DR UCSC; uc003zay.3; human.
DR CTD; 1537; -.
DR GeneCards; GC08P145149; -.
DR HGNC; HGNC:2579; CYC1.
DR HPA; HPA001247; -.
DR MIM; 123980; gene.
DR neXtProt; NX_P08574; -.
DR PharmGKB; PA27077; -.
DR eggNOG; COG2857; -.
DR HOGENOM; HOG000003867; -.
DR HOVERGEN; HBG001239; -.
DR InParanoid; P08574; -.
DR KO; K00413; -.
DR OMA; MAPPIYT; -.
DR OrthoDB; EOG7GBFX7; -.
DR PhylomeDB; P08574; -.
DR Reactome; REACT_111217; Metabolism.
DR Reactome; REACT_17015; Metabolism of proteins.
DR ChiTaRS; CYC1; human.
DR GeneWiki; CYC1; -.
DR GenomeRNAi; 1537; -.
DR NextBio; 6357; -.
DR PRO; PR:P08574; -.
DR Bgee; P08574; -.
DR CleanEx; HS_CYC1; -.
DR Genevestigator; P08574; -.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0070469; C:respiratory chain; IEA:UniProtKB-KW.
DR GO; GO:0045155; F:electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity; TAS:ProtInc.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0005506; F:iron ion binding; IEA:InterPro.
DR GO; GO:0022904; P:respiratory electron transport chain; TAS:Reactome.
DR GO; GO:0044281; P:small molecule metabolic process; TAS:Reactome.
DR InterPro; IPR009056; Cyt_c-like_dom.
DR InterPro; IPR002326; Cyt_c1.
DR InterPro; IPR021157; Cyt_c1_TM_anchor_C.
DR PANTHER; PTHR10266; PTHR10266; 1.
DR Pfam; PF02167; Cytochrom_C1; 1.
DR PRINTS; PR00603; CYTOCHROMEC1.
DR SUPFAM; SSF46626; SSF46626; 1.
DR SUPFAM; SSF81496; SSF81496; 1.
DR PROSITE; PS51007; CYTC; FALSE_NEG.
PE 1: Evidence at protein level;
KW Complete proteome; Electron transport; Heme; Iron; Membrane;
KW Metal-binding; Mitochondrion; Mitochondrion inner membrane;
KW Polymorphism; Reference proteome; Respiratory chain; Transit peptide;
KW Transmembrane; Transmembrane helix; Transport.
FT TRANSIT 1 84 Mitochondrion.
FT CHAIN 85 325 Cytochrome c1, heme protein,
FT mitochondrial.
FT /FTId=PRO_0000006554.
FT TRANSMEM 292 306 Helical; Note=Anchors to the membrane;
FT (Potential).
FT DOMAIN 108 209 Cytochrome c.
FT METAL 125 125 Iron (heme axial ligand).
FT METAL 244 244 Iron (heme axial ligand) (By similarity).
FT BINDING 121 121 Heme (covalent).
FT BINDING 124 124 Heme (covalent).
FT VARIANT 76 76 M -> V (in dbSNP:rs7820984).
FT /FTId=VAR_025163.
FT VARIANT 89 89 L -> V.
FT /FTId=VAR_013631.
SQ SEQUENCE 325 AA; 35422 MW; CC8EA2E60E96BBDC CRC64;
MAAAAASLRG VVLGPRGAGL PGARARGLLC SARPGQLPLR TPQAVALSSK SGLSRGRKVM
LSALGMLAAG GAGLAMALHS AVSASDLELH PPSYPWSHRG LLSSLDHTSI RRGFQVYKQV
CASCHSMDFV AYRHLVGVCY TEDEAKELAA EVEVQDGPNE DGEMFMRPGK LFDYFPKPYP
NSEAARAANN GALPPDLSYI VRARHGGEDY VFSLLTGYCE PPTGVSLREG LYFNPYFPGQ
AIAMAPPIYT DVLEFDDGTP ATMSQIAKDV CTFLRWASEP EHDHRKRMGL KMLMMMALLV
PLVYTIKRHK WSVLKSRKLA YRPPK
//
MIM
123980
*RECORD*
*FIELD* NO
123980
*FIELD* TI
*123980 CYTOCHROME C1; CYC1
*FIELD* TX
CLONING
Cytochrome c1 is one of the subunits of the cytochrome bc1 complex of
read morethe mitochondrial electron-transfer chain. It mediates the transfer of
an electron from Rieske iron-sulfur protein to cytochrome c. Nishikimi
et al. (1987) isolated a cDNA clone for cytochrome c1 from a human liver
cDNA library and determined its nucleotide sequence.
Nishikimi et al. (1988) reported the sequence of a cDNA encoding the
precursor of human cytochrome c1.
MAPPING
Nishikimi et al. (1988) used the cloned cDNA for Southern hybridization
analysis to localize the CYC1 gene to chromosome 8 using a panel of
human-mouse somatic cell hybrids.
Fukuyama et al. (1991) regionalized the assignment to 8q24 by
fluorescence in situ suppression hybridization (FISH). By isotopic in
situ hybridization, Duncan et al. (1994) assigned the CYC1 gene to
8q24.3.
MOLECULAR GENETICS
In 2 unrelated patients with mitochondrial complex III deficiency
nuclear type 6 (MC3DN6; 615453), Gaignard et al. (2013) identified 2
different homozygous missense mutations in the CYC1 gene (123980.0001
and 123980.0002). One of the mutations was found by whole-exome
sequencing and the other by candidate gene sequencing. The patients had
a similar phenotype, characterized by recurrent episodes of severe
lactic acidosis and metabolic decompensation beginning in childhood and
usually in response to infection. Both also had insulin-responsive
hyperglycemia. Psychomotor development was subsequently normal.
Immunoblot analysis of patient fibroblasts and skeletal muscle samples
showed a severe reduction in CYC1 protein levels (less than 10% of
controls), suggesting that the mutant proteins were unstable. There was
also a decrease in assembly-dependent complex III subunits, which
correlated with significantly decreased complex III activity in patient
cells. Expression of a single copy of the orthologous mutations in
Cyc1-null yeast resulted in decreased amounts of mutant protein and
failed to rescue the growth defect, but the growth defect could be
partially rescued in transformants harboring multiple copies of the
mutant genes. Similar effects were observed with patient fibroblasts,
indicating that the mutations cause a deleterious effect on complex III
assembly or stability. Crystal structure analysis indicated that both
mutations occurred in the extramembrane domain, which is thought to play
a role in structural and functional integrity of complex III.
*FIELD* AV
.0001
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
CYC1, TRP96CYS
In a Lebanese boy, born of consanguineous parents, with mitochondrial
complex III deficiency nuclear type 6 (MC3DN6; 615453), Gaignard et al.
(2013) identified a homozygous c.288G-T transversion in the CYC1 gene,
resulting in a trp96-to-cys (W96C) substitution at a highly conserved
residue. The mutation, which was found by whole-exome sequencing and
confirmed by Sanger sequencing, segregated with the disorder in the
family. The mutation was not present in the 1000 Genomes or dbSNP
databases, or in 81 Lebanese controls. The child first presented at age
5 months with severe metabolic ketoacidosis, increased serum lactate,
and hyperammonemia associated with a febrile illness. He had recurrent
similar episodes characterized by metabolic abnormalities and
insulin-responsive hyperglycemia and usually associated with illness.
Biochemical studies of patient fibroblasts, skeletal muscle samples, and
liver biopsy showed isolated decreases in mitochondrial complex III
activity. He had normal psychomotor development at age 34 months.
.0002
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
CYC1, LEU215PHE
In an 18-year-old girl, born of consanguineous Sri Lankan parents, with
MC3DN6 (615453), Gaignard et al. (2013) identified a homozygous c.643C-T
transition in the CYC1 gene, resulting in a leu215-to-phe (L215F)
substitution at a highly conserved residue. The mutation was found by
candidate gene sequencing of complex III subunits. It segregated with
the disorder in the family and was not found in the 1000 Genomes or
dbSNP databases, or in 100 control alleles. The child first presented at
age 2.5 years with neurologic deterioration resulting in coma. She had
insulin-responsive hyperglycemia, ketoacidosis with increased serum
lactate, liver failure, and hyperammonemia. She subsequently had
numerous similar episodes, but showed normal psychomotor development at
age 18 years. Biochemical studies showed decreased mitochondrial complex
III activity in patient fibroblasts and skeletal muscle samples.
*FIELD* SA
Nishikimi et al. (1988)
*FIELD* RF
1. Duncan, A. M. V.; Ozawa, T.; Suzuki, H.; Rozen, R.: Assignment
of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome
bc-1 complex (CYC1) to human chromosome 8q24.3. Genomics 19: 400-401,
1994.
2. Fukuyama, R.; Minoshima, S.; Nishikimi, M.; Ozawa, T.; Suzuki,
H.; Shimizu, N.: Assignment of cytochrome c1 gene to chromosome 8q24
distal to MYC. (Abstract) Cytogenet. Cell Genet. 58: 1929 only,
1991.
3. Gaignard, P.; Menezes, M.; Schiff, M.; Bayot, A.; Rak, M.; Ogier
de Baulny, H.; Su, C.-H.; Gilleron, M.; Lombes, A.; Abida, H.; Tzagoloff,
A.; Riley, L.; and 11 others: Mutations in CYC1, encoding cytochrome
c1 subunit of respiratory chain complex III, cause insulin-responsive
hyperglycemia. Am. J. Hum. Genet. 93: 384-389, 2013.
4. Nishikimi, M.; Ohta, S.; Suzuki, H.; Tanaka, T.; Kikkawa, F.; Tanaka,
M.; Kagawa, Y.; Ozawa, T.: Nucleotide sequence of a cDNA encoding
the precursor to human cytochrome c1. Nucleic Acids Res. 16: 3577
only, 1988.
5. Nishikimi, M.; Suzuki, H.; Ohta, S.; Sakurai, T.; Shimomura, Y.;
Tanaka, M.; Kagawa, Y.; Ozawa, T.: Isolation of a cDNA clone for
human cytochrome c1 from a lambda gt11 expression library. Biochem.
Biophys. Res. Commun. 145: 34-39, 1987.
6. Nishikimi, M.; Suzuki, H.; Yamaguchi, M.; Matsukage, A.; Yoshida,
M. C.; Ozawa, T.: Assignment of the human cytochrome c1 gene to chromosome
8. Biochem. Int. 16: 655-660, 1988.
*FIELD* CN
Cassandra L. Kniffin - updated: 10/2/2013
*FIELD* CD
Victor A. McKusick: 6/28/1988
*FIELD* ED
carol: 10/02/2013
ckniffin: 10/2/2013
alopez: 9/20/2012
carol: 2/15/1994
carol: 11/10/1993
supermim: 3/16/1992
carol: 2/21/1992
carol: 8/8/1991
supermim: 3/20/1990
*RECORD*
*FIELD* NO
123980
*FIELD* TI
*123980 CYTOCHROME C1; CYC1
*FIELD* TX
CLONING
Cytochrome c1 is one of the subunits of the cytochrome bc1 complex of
read morethe mitochondrial electron-transfer chain. It mediates the transfer of
an electron from Rieske iron-sulfur protein to cytochrome c. Nishikimi
et al. (1987) isolated a cDNA clone for cytochrome c1 from a human liver
cDNA library and determined its nucleotide sequence.
Nishikimi et al. (1988) reported the sequence of a cDNA encoding the
precursor of human cytochrome c1.
MAPPING
Nishikimi et al. (1988) used the cloned cDNA for Southern hybridization
analysis to localize the CYC1 gene to chromosome 8 using a panel of
human-mouse somatic cell hybrids.
Fukuyama et al. (1991) regionalized the assignment to 8q24 by
fluorescence in situ suppression hybridization (FISH). By isotopic in
situ hybridization, Duncan et al. (1994) assigned the CYC1 gene to
8q24.3.
MOLECULAR GENETICS
In 2 unrelated patients with mitochondrial complex III deficiency
nuclear type 6 (MC3DN6; 615453), Gaignard et al. (2013) identified 2
different homozygous missense mutations in the CYC1 gene (123980.0001
and 123980.0002). One of the mutations was found by whole-exome
sequencing and the other by candidate gene sequencing. The patients had
a similar phenotype, characterized by recurrent episodes of severe
lactic acidosis and metabolic decompensation beginning in childhood and
usually in response to infection. Both also had insulin-responsive
hyperglycemia. Psychomotor development was subsequently normal.
Immunoblot analysis of patient fibroblasts and skeletal muscle samples
showed a severe reduction in CYC1 protein levels (less than 10% of
controls), suggesting that the mutant proteins were unstable. There was
also a decrease in assembly-dependent complex III subunits, which
correlated with significantly decreased complex III activity in patient
cells. Expression of a single copy of the orthologous mutations in
Cyc1-null yeast resulted in decreased amounts of mutant protein and
failed to rescue the growth defect, but the growth defect could be
partially rescued in transformants harboring multiple copies of the
mutant genes. Similar effects were observed with patient fibroblasts,
indicating that the mutations cause a deleterious effect on complex III
assembly or stability. Crystal structure analysis indicated that both
mutations occurred in the extramembrane domain, which is thought to play
a role in structural and functional integrity of complex III.
*FIELD* AV
.0001
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
CYC1, TRP96CYS
In a Lebanese boy, born of consanguineous parents, with mitochondrial
complex III deficiency nuclear type 6 (MC3DN6; 615453), Gaignard et al.
(2013) identified a homozygous c.288G-T transversion in the CYC1 gene,
resulting in a trp96-to-cys (W96C) substitution at a highly conserved
residue. The mutation, which was found by whole-exome sequencing and
confirmed by Sanger sequencing, segregated with the disorder in the
family. The mutation was not present in the 1000 Genomes or dbSNP
databases, or in 81 Lebanese controls. The child first presented at age
5 months with severe metabolic ketoacidosis, increased serum lactate,
and hyperammonemia associated with a febrile illness. He had recurrent
similar episodes characterized by metabolic abnormalities and
insulin-responsive hyperglycemia and usually associated with illness.
Biochemical studies of patient fibroblasts, skeletal muscle samples, and
liver biopsy showed isolated decreases in mitochondrial complex III
activity. He had normal psychomotor development at age 34 months.
.0002
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
CYC1, LEU215PHE
In an 18-year-old girl, born of consanguineous Sri Lankan parents, with
MC3DN6 (615453), Gaignard et al. (2013) identified a homozygous c.643C-T
transition in the CYC1 gene, resulting in a leu215-to-phe (L215F)
substitution at a highly conserved residue. The mutation was found by
candidate gene sequencing of complex III subunits. It segregated with
the disorder in the family and was not found in the 1000 Genomes or
dbSNP databases, or in 100 control alleles. The child first presented at
age 2.5 years with neurologic deterioration resulting in coma. She had
insulin-responsive hyperglycemia, ketoacidosis with increased serum
lactate, liver failure, and hyperammonemia. She subsequently had
numerous similar episodes, but showed normal psychomotor development at
age 18 years. Biochemical studies showed decreased mitochondrial complex
III activity in patient fibroblasts and skeletal muscle samples.
*FIELD* SA
Nishikimi et al. (1988)
*FIELD* RF
1. Duncan, A. M. V.; Ozawa, T.; Suzuki, H.; Rozen, R.: Assignment
of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome
bc-1 complex (CYC1) to human chromosome 8q24.3. Genomics 19: 400-401,
1994.
2. Fukuyama, R.; Minoshima, S.; Nishikimi, M.; Ozawa, T.; Suzuki,
H.; Shimizu, N.: Assignment of cytochrome c1 gene to chromosome 8q24
distal to MYC. (Abstract) Cytogenet. Cell Genet. 58: 1929 only,
1991.
3. Gaignard, P.; Menezes, M.; Schiff, M.; Bayot, A.; Rak, M.; Ogier
de Baulny, H.; Su, C.-H.; Gilleron, M.; Lombes, A.; Abida, H.; Tzagoloff,
A.; Riley, L.; and 11 others: Mutations in CYC1, encoding cytochrome
c1 subunit of respiratory chain complex III, cause insulin-responsive
hyperglycemia. Am. J. Hum. Genet. 93: 384-389, 2013.
4. Nishikimi, M.; Ohta, S.; Suzuki, H.; Tanaka, T.; Kikkawa, F.; Tanaka,
M.; Kagawa, Y.; Ozawa, T.: Nucleotide sequence of a cDNA encoding
the precursor to human cytochrome c1. Nucleic Acids Res. 16: 3577
only, 1988.
5. Nishikimi, M.; Suzuki, H.; Ohta, S.; Sakurai, T.; Shimomura, Y.;
Tanaka, M.; Kagawa, Y.; Ozawa, T.: Isolation of a cDNA clone for
human cytochrome c1 from a lambda gt11 expression library. Biochem.
Biophys. Res. Commun. 145: 34-39, 1987.
6. Nishikimi, M.; Suzuki, H.; Yamaguchi, M.; Matsukage, A.; Yoshida,
M. C.; Ozawa, T.: Assignment of the human cytochrome c1 gene to chromosome
8. Biochem. Int. 16: 655-660, 1988.
*FIELD* CN
Cassandra L. Kniffin - updated: 10/2/2013
*FIELD* CD
Victor A. McKusick: 6/28/1988
*FIELD* ED
carol: 10/02/2013
ckniffin: 10/2/2013
alopez: 9/20/2012
carol: 2/15/1994
carol: 11/10/1993
supermim: 3/16/1992
carol: 2/21/1992
carol: 8/8/1991
supermim: 3/20/1990