RBCC

Full text data of COX6C

COX6C [Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Cytochrome c oxidase subunit 6C (Cytochrome c oxidase polypeptide VIc)

UniProt P09669
ID COX6C_HUMAN Reviewed; 75 AA.
AC P09669; B2R4D7;
DT 01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-FEB-1996, sequence version 2.
DT 22-JAN-2014, entry version 124.
DE RecName: Full=Cytochrome c oxidase subunit 6C;
DE AltName: Full=Cytochrome c oxidase polypeptide VIc;
GN Name=COX6C;
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].
RX PubMed=2849755; DOI=10.1093/nar/16.22.10916;
RA Otsuka M., Mizuno Y., Yoshida M., Kagawa Y., Ohta S.;
RT "Nucleotide sequence of cDNA encoding human cytochrome c oxidase
RT subunit VIc.";
RL Nucleic Acids Res. 16:10916-10916(1988).
RN [2]
RP SEQUENCE REVISION TO 52.
RA Ohta S.;
RL Submitted (FEB-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10072584;
RA Hofmann S., Lichtner P., Schuffenhauer S., Gerbitz K.D., Meitinger T.;
RT "Assignment of the human genes coding for cytochrome c oxidase
RT subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands
RT 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1,
RT COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid
RT mapping.";
RL Cytogenet. Cell Genet. 83:226-227(1998).
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 (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 PROTEIN SEQUENCE [LARGE SCALE ANALYSIS] OF 2-11.
RC TISSUE=Leukemic T-cell;
RX PubMed=19892738; DOI=10.1073/pnas.0908958106;
RA Xu G., Shin S.B., Jaffrey S.R.;
RT "Global profiling of protease cleavage sites by chemoselective
RT labeling of protein N-termini.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:19310-19315(2009).
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E.,
RA Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K.,
RA Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-
RT terminal acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- FUNCTION: This protein is one of the nuclear-coded polypeptide
CC chains of cytochrome c oxidase, the terminal oxidase in
CC mitochondrial electron transport.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane.
CC -!- SIMILARITY: Belongs to the cytochrome c oxidase subunit 6c family.
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/COX6CID251.html";
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DR EMBL; X13238; CAA31624.1; -; mRNA.
DR EMBL; AF067637; AAC73061.1; -; Genomic_DNA.
DR EMBL; AF067636; AAC73061.1; JOINED; Genomic_DNA.
DR EMBL; BT007007; AAP35653.1; -; mRNA.
DR EMBL; AK311791; BAG34734.1; -; mRNA.
DR EMBL; CH471060; EAW91791.1; -; Genomic_DNA.
DR EMBL; BC000187; AAH00187.1; -; mRNA.
DR PIR; S01960; OGHU6C.
DR RefSeq; NP_004365.1; NM_004374.3.
DR UniGene; Hs.351875; -.
DR ProteinModelPortal; P09669; -.
DR SMR; P09669; 6-75.
DR IntAct; P09669; 15.
DR STRING; 9606.ENSP00000297564; -.
DR PhosphoSite; P09669; -.
DR DMDM; 1352175; -.
DR PaxDb; P09669; -.
DR PeptideAtlas; P09669; -.
DR PRIDE; P09669; -.
DR DNASU; 1345; -.
DR Ensembl; ENST00000297564; ENSP00000297564; ENSG00000164919.
DR Ensembl; ENST00000517682; ENSP00000429714; ENSG00000164919.
DR Ensembl; ENST00000518171; ENSP00000429755; ENSG00000164919.
DR Ensembl; ENST00000520271; ENSP00000428150; ENSG00000164919.
DR Ensembl; ENST00000520468; ENSP00000428895; ENSG00000164919.
DR Ensembl; ENST00000520517; ENSP00000429991; ENSG00000164919.
DR Ensembl; ENST00000522934; ENSP00000428702; ENSG00000164919.
DR Ensembl; ENST00000522940; ENSP00000428965; ENSG00000164919.
DR Ensembl; ENST00000523016; ENSP00000429707; ENSG00000164919.
DR Ensembl; ENST00000524245; ENSP00000429410; ENSG00000164919.
DR GeneID; 1345; -.
DR KEGG; hsa:1345; -.
DR UCSC; uc003yiy.2; human.
DR CTD; 1345; -.
DR GeneCards; GC08M100885; -.
DR HGNC; HGNC:2285; COX6C.
DR HPA; CAB016244; -.
DR MIM; 124090; gene.
DR neXtProt; NX_P09669; -.
DR PharmGKB; PA26802; -.
DR eggNOG; NOG86594; -.
DR HOGENOM; HOG000039249; -.
DR HOVERGEN; HBG051091; -.
DR InParanoid; P09669; -.
DR KO; K02268; -.
DR OMA; VKEFNAM; -.
DR OrthoDB; EOG73807S; -.
DR PhylomeDB; P09669; -.
DR Reactome; REACT_111217; Metabolism.
DR GeneWiki; COX6C; -.
DR GenomeRNAi; 1345; -.
DR NextBio; 5453; -.
DR PRO; PR:P09669; -.
DR Bgee; P09669; -.
DR CleanEx; HS_COX6C; -.
DR Genevestigator; P09669; -.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0004129; F:cytochrome-c oxidase activity; 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 Gene3D; 4.10.93.10; -; 1.
DR InterPro; IPR004204; COX6C.
DR PANTHER; PTHR12916; PTHR12916; 1.
DR Pfam; PF02937; COX6C; 1.
DR ProDom; PD015032; Cyt_c_oxidase_su6c; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Direct protein sequencing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1 75 Cytochrome c oxidase subunit 6C.
FT /FTId=PRO_0000006131.
FT TOPO_DOM 1 13 Mitochondrial matrix (By similarity).
FT TRANSMEM 14 54 Helical; (By similarity).
FT TOPO_DOM 55 75 Mitochondrial intermembrane (By
FT similarity).
SQ SEQUENCE 75 AA; 8781 MW; D09FEE0C0AA7A798 CRC64;
MAPEVLPKPR MRGLLARRLR NHMAVAFVLS LGVAALYKFR VADQRKKAYA DFYRNYDVMK
DFEEMRKAGI FQSVK
//

MIM 124090
*RECORD*
*FIELD* NO
124090
*FIELD* TI
*124090 CYTOCHROME c OXIDASE, SUBUNIT VIc; COX6C
COX6C/HMGIC FUSION GENE, INCLUDED
read more*FIELD* TX

CLONING

Cytochrome c oxidase (COX) is the terminal oxidase in the respiratory
chain in human and other mammalian cells. The enzyme is composed of 13
different subunits. See 123870. Otsuka et al. (1988) cloned the cDNA for
the subunit 6c from a human fibroblast cDNA library by using a synthetic
oligonucleotide as a hybridization probe. They found that this
mitochondrial protein does not have a presequence that targets
mitochondria and that the mature form itself has the property of a
presequence.

In a review article, Lenka et al. (1998) noted that the COX VIc subunit
is found in all mammalian tissues. The 76-amino acid human COX VIc
protein is 69% identical to rat COX VIc.

MAPPING

By fluorescence in situ hybridization and by radiation hybrid mapping,
Hofmann et al. (1998) mapped the COX6C gene to 8q22-q23, and a COX6C
pseudogene, COX6CP1, to 16p12.

CYTOGENETICS

Band 12q15 is often rearranged in benign mesenchymal tumor such as
uterine leiomyomas (150699), and the HMGIC gene (608249), which encodes
a protein of the high mobility group (HMG), is often found to be fused
with another gene. Kurose et al. (2000) demonstrated a novel gene fusion
of COX6C at 8q22-q23 to HMGIC at 12q15 in the uterine leiomyoma.

*FIELD* RF
1. Hofmann, S.; Lichtner, P.; Schuffenhauer, S.; Gerbitz, K.-D.; Meitinger,
T.: Assignment of the human genes coding for cytochrome c oxidase
subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands
15q25, 8q22-q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1,
COX7CP1) to 14q22, 16p12 and 13q14-q21 by FISH and radiation hybrid
mapping. Cytogenet. Cell Genet. 83: 226-227, 1998.

2. Kurose, K.; Mine, N.; Doi, D.; Ota, Y.; Yoneyama, K.; Konishi,
H.; Araki, T.; Emi, M.: Novel gene fusion of COX6C at 8q22-23 to
HMGIC at 12q15 in a uterine leiomyoma. Genes Chromosomes Cancer 27:
303-307, 2000.

3. Lenka, N.; Vijayasarathy, C.; Mullick, J.; Avadhani, N. G.: Structural
organization and transcription regulation of nuclear genes encoding
the mammalian cytochrome c oxidase complex. Prog. Nucleic Acid Res.
Molec. Biol. 61: 309-344, 1998.

4. Otsuka, M.; Mizuno, Y.; Yoshida, M.; Kagawa, Y.; Ohta, S.: Nucleotide
sequence of cDNA encoding human cytochrome c oxidase subunit VIc. Nucleic
Acids Res. 16: 10916 only, 1988.

*FIELD* CN
Victor A. McKusick - updated: 1/16/2004
Rebekah S. Rasooly - updated: 4/26/1999

*FIELD* CD
Victor A. McKusick: 7/12/1989

*FIELD* ED
alopez: 09/20/2012
cwells: 1/20/2004
terry: 1/16/2004
alopez: 4/26/1999
supermim: 3/16/1992
carol: 2/28/1992
carol: 1/10/1992
supermim: 3/20/1990
ddp: 10/26/1989
root: 7/12/1989

RBCC Red Blood Cell Collection

Full text data of COX6C