ID   CB069_HUMAN             Reviewed;         385 AA.
AC   Q8N8R5; Q8NE30;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   03-AUG-2022, entry version 114.
DE   RecName: Full=Mitochondrial protein C2orf69;
DE   Flags: Precursor;
GN   Name=C2orf69;
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 [LARGE SCALE MRNA].
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [3]
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Testis;
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   [5]
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   [6]
RP   FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN COXPD53, AND MUTAGENESIS OF
RP   1-MET--ALA-24.
RX   PubMed=33945503; DOI=10.1172/jci143078;
RA   Lausberg E., Giesselmann S., Dewulf J.P., Wiame E., Holz A.,
RA   Salvarinova R., van Karnebeek C.D., Klemm P., Ohl K., Mull M.,
RA   Braunschweig T., Weis J., Sommer C.J., Demuth S., Haase C.,
RA   Stollbrink-Peschgens C., Debray F.G., Libioulle C., Choukair D.,
RA   Oommen P.T., Borkhardt A., Surowy H., Wieczorek D., Wagner N., Meyer R.,
RA   Eggermann T., Begemann M., Van Schaftingen E., Haeusler M., Tenbrock K.,
RA   van den Heuvel L., Elbracht M., Kurth I., Kraft F.;
RT   "C2orf69 mutations disrupt mitochondrial function and cause a multisystem
RT   human disorder with recurring autoinflammation.";
RL   J. Clin. Invest. 131:143078-143078(2021).
CC   -!- FUNCTION: May play a role in the respiratory chain.
CC       {ECO:0000269|PubMed:33945503}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion matrix
CC       {ECO:0000269|PubMed:33945503}.
CC   -!- DISEASE: Combined oxidative phosphorylation deficiency 53 (COXPD53)
CC       [MIM:619423]: An autosomal recessive mitochondrial disorder
CC       characterized by global developmental delay, hypomyelination, cerebral
CC       atrophy, microcephaly, liver dysfunction, and recurrent
CC       autoinflammation. {ECO:0000269|PubMed:33945503}. Note=The disease is
CC       caused by variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the C2orf69 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=EAW70190.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR   EMBL; AK096292; BAC04749.1; -; mRNA.
DR   EMBL; AC097717; AAY24161.1; -; Genomic_DNA.
DR   EMBL; CH471063; EAW70190.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC036456; AAH36456.1; -; mRNA.
DR   CCDS; CCDS46482.1; -.
DR   RefSeq; NP_710156.3; NM_153689.5.
DR   AlphaFoldDB; Q8N8R5; -.
DR   BioGRID; 128495; 7.
DR   IntAct; Q8N8R5; 8.
DR   STRING; 9606.ENSP00000312770; -.
DR   GlyGen; Q8N8R5; 2 sites.
DR   iPTMnet; Q8N8R5; -.
DR   PhosphoSitePlus; Q8N8R5; -.
DR   BioMuta; C2orf69; -.
DR   DMDM; 74729509; -.
DR   EPD; Q8N8R5; -.
DR   jPOST; Q8N8R5; -.
DR   MassIVE; Q8N8R5; -.
DR   MaxQB; Q8N8R5; -.
DR   PaxDb; Q8N8R5; -.
DR   PeptideAtlas; Q8N8R5; -.
DR   PRIDE; Q8N8R5; -.
DR   ProteomicsDB; 72455; -.
DR   Antibodypedia; 50407; 42 antibodies from 11 providers.
DR   DNASU; 205327; -.
DR   Ensembl; ENST00000319974.6; ENSP00000312770.5; ENSG00000178074.6.
DR   GeneID; 205327; -.
DR   KEGG; hsa:205327; -.
DR   MANE-Select; ENST00000319974.6; ENSP00000312770.5; NM_153689.6; NP_710156.3.
DR   UCSC; uc010zhb.2; human.
DR   CTD; 205327; -.
DR   DisGeNET; 205327; -.
DR   GeneCards; C2orf69; -.
DR   HGNC; HGNC:26799; C2orf69.
DR   HPA; ENSG00000178074; Low tissue specificity.
DR   MIM; 619219; gene.
DR   MIM; 619423; phenotype.
DR   neXtProt; NX_Q8N8R5; -.
DR   OpenTargets; ENSG00000178074; -.
DR   PharmGKB; PA162379487; -.
DR   VEuPathDB; HostDB:ENSG00000178074; -.
DR   eggNOG; KOG2800; Eukaryota.
DR   GeneTree; ENSGT00390000005550; -.
DR   HOGENOM; CLU_028841_1_0_1; -.
DR   InParanoid; Q8N8R5; -.
DR   OMA; YQVFDTM; -.
DR   OrthoDB; 1550048at2759; -.
DR   PhylomeDB; Q8N8R5; -.
DR   TreeFam; TF343859; -.
DR   PathwayCommons; Q8N8R5; -.
DR   SignaLink; Q8N8R5; -.
DR   BioGRID-ORCS; 205327; 21 hits in 1074 CRISPR screens.
DR   ChiTaRS; C2orf69; human.
DR   GenomeRNAi; 205327; -.
DR   Pharos; Q8N8R5; Tdark.
DR   PRO; PR:Q8N8R5; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q8N8R5; protein.
DR   Bgee; ENSG00000178074; Expressed in sperm and 193 other tissues.
DR   Genevisible; Q8N8R5; HS.
DR   GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   GO; GO:0070469; C:respirasome; IEA:UniProtKB-KW.
DR   GO; GO:0006119; P:oxidative phosphorylation; IMP:UniProtKB.
DR   InterPro; IPR018881; C2orf69_mit.
DR   PANTHER; PTHR31296; PTHR31296; 1.
DR   Pfam; PF10561; UPF0565; 1.
PE   1: Evidence at protein level;
KW   Electron transport; Mitochondrion; Primary mitochondrial disease;
KW   Reference proteome; Respiratory chain; Transit peptide; Transport.
FT   TRANSIT         1..24
FT                   /note="Mitochondrion"
FT                   /evidence="ECO:0000255"
FT   CHAIN           25..385
FT                   /note="Mitochondrial protein C2orf69"
FT                   /id="PRO_0000329088"
FT   MUTAGEN         1..24
FT                   /note="Missing: Abolishes mitochondrial localization."
FT                   /evidence="ECO:0000269|PubMed:33945503"
SQ   SEQUENCE   385 AA;  43448 MW;  0C6E9542FC6BEDA5 CRC64;
     MWGFRLLRSP PLLLLLPQLG IGNASSCSQA RTMNPGGSGG ARCSLSAEVR RRQCLQLSTV
     PGADPQRSNE LLLLAAAGEG LERQDLPGDP AKEEPQPPPQ HHVLYFPGDV QNYHEIMTRH
     PENYQWENWS LENVATILAH RFPNSYIWVI KCSRMHLHKF SCYDNFVKSN MFGAPEHNTD
     FGAFKHLYML LVNAFNLSQN SLSKKSLNVW NKDSIASNCR SSPSHTTNGC QGEKVRTCEK
     SDESAMSFYP PSLNDASFTL IGFSKGCVVL NQLLFELKEA KKDKNIDAFI KSIRTMYWLD
     GGHSGGSNTW VTYPEVLKEF AQTGIIVHTH VTPYQVRDPM RSWIGKEHKK FVQILGDLGM
     QVTSQIHFTK EAPSIENHFR VHEVF