ID MITOK_HUMAN Reviewed; 411 AA. AC Q96ER9; Q9HA01; DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot. DT 29-MAY-2007, sequence version 2. DT 24-JAN-2024, entry version 140. DE RecName: Full=Mitochondrial potassium channel {ECO:0000303|PubMed:31435016}; DE Short=MITOK {ECO:0000303|PubMed:31435016}; DE AltName: Full=Coiled-coil domain-containing protein 51 {ECO:0000305}; DE Flags: Precursor; GN Name=CCDC51 {ECO:0000312|HGNC:HGNC:25714}; GN Synonyms=MITOK {ECO:0000303|PubMed:31435016}; 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] (ISOFORM 2). 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 MRNA] (ISOFORM 1). RC TISSUE=Ovary; 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 [3] 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 [4] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-70, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). RN [5] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Liver; RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014; RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., RA Ye M., Zou H.; RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver RT phosphoproteome."; RL J. Proteomics 96:253-262(2014). RN [6] 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). RN [7] RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, SUBUNIT, AND ACTIVITY RP REGULATION. RX PubMed=31435016; DOI=10.1038/s41586-019-1498-3; RA Paggio A., Checchetto V., Campo A., Menabo R., Di Marco G., Di Lisa F., RA Szabo I., Rizzuto R., De Stefani D.; RT "Identification of an ATP-sensitive potassium channel in mitochondria."; RL Nature 572:609-613(2019). CC -!- FUNCTION: Mitochondrial potassium channel located in the mitochondrial CC inner membrane (PubMed:31435016). Together with ABCB8/MITOSUR, forms a CC protein complex localized in the mitochondria that mediates ATP- CC dependent potassium currents across the inner membrane (that is, CC mitoK(ATP) channel) (PubMed:31435016). May contribute to the CC homeostatic control of cellular metabolism under stress conditions by CC regulating the mitochondrial matrix volume (PubMed:31435016). CC {ECO:0000269|PubMed:31435016}. CC -!- ACTIVITY REGULATION: Channel activity inhibited by ATP via CC ABCB8/MITOSUR subunit. {ECO:0000269|PubMed:31435016}. CC -!- SUBUNIT: The mitochondrial potassium channel (mitoK(ATP)) is composed CC of 4 subunits of CCDC51/MITOK and 4 subunits of ABCB8/MITOSUR. CC {ECO:0000305|PubMed:31435016}. CC -!- INTERACTION: CC Q96ER9; Q9NUT2: ABCB8; NbExp=2; IntAct=EBI-11926384, EBI-722515; CC Q96ER9; P57086: SCAND1; NbExp=3; IntAct=EBI-11926384, EBI-745846; CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane CC {ECO:0000269|PubMed:31435016}; Multi-pass membrane protein CC {ECO:0000255}. CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion inner membrane CC {ECO:0000269|PubMed:31435016}; Multi-pass membrane protein CC {ECO:0000255}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q96ER9-1; Sequence=Displayed; CC Name=2; CC IsoId=Q96ER9-2; Sequence=VSP_025800; CC -!- TISSUE SPECIFICITY: Isoform 1: Widely expressed (PubMed:31435016). CC Isoform 2: Expression is barely detectable (PubMed:31435016). CC {ECO:0000269|PubMed:31435016}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH11993.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK022498; BAB14060.1; -; mRNA. DR EMBL; BC011993; AAH11993.1; ALT_INIT; mRNA. DR CCDS; CCDS2766.2; -. [Q96ER9-1] DR CCDS; CCDS58830.1; -. [Q96ER9-2] DR RefSeq; NP_001243893.1; NM_001256964.1. [Q96ER9-1] DR RefSeq; NP_001243894.1; NM_001256965.2. [Q96ER9-2] DR RefSeq; NP_001243895.1; NM_001256966.2. [Q96ER9-2] DR RefSeq; NP_001243896.1; NM_001256967.2. [Q96ER9-2] DR RefSeq; NP_001243897.1; NM_001256968.2. [Q96ER9-2] DR RefSeq; NP_001243898.1; NM_001256969.2. [Q96ER9-2] DR RefSeq; NP_078937.3; NM_024661.4. [Q96ER9-1] DR AlphaFoldDB; Q96ER9; -. DR SMR; Q96ER9; -. DR BioGRID; 122831; 80. DR ComplexPortal; CPX-6083; MITOK-MITOSUR mitochondrial potassium channel complex. DR IntAct; Q96ER9; 38. DR STRING; 9606.ENSP00000379047; -. DR DrugBank; DB01236; Sevoflurane. DR GlyGen; Q96ER9; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q96ER9; -. DR PhosphoSitePlus; Q96ER9; -. DR SwissPalm; Q96ER9; -. DR BioMuta; CCDC51; -. DR DMDM; 152032342; -. DR EPD; Q96ER9; -. DR jPOST; Q96ER9; -. DR MassIVE; Q96ER9; -. DR MaxQB; Q96ER9; -. DR PaxDb; 9606-ENSP00000379047; -. DR PeptideAtlas; Q96ER9; -. DR ProteomicsDB; 76443; -. [Q96ER9-1] DR ProteomicsDB; 76444; -. [Q96ER9-2] DR Pumba; Q96ER9; -. DR Antibodypedia; 2566; 146 antibodies from 20 providers. DR DNASU; 79714; -. DR Ensembl; ENST00000395694.7; ENSP00000379047.2; ENSG00000164051.14. [Q96ER9-1] DR Ensembl; ENST00000412398.6; ENSP00000401194.2; ENSG00000164051.14. [Q96ER9-2] DR Ensembl; ENST00000442740.1; ENSP00000392898.1; ENSG00000164051.14. [Q96ER9-2] DR Ensembl; ENST00000447018.5; ENSP00000412300.1; ENSG00000164051.14. [Q96ER9-2] DR GeneID; 79714; -. DR KEGG; hsa:79714; -. DR MANE-Select; ENST00000395694.7; ENSP00000379047.2; NM_001256964.2; NP_001243893.1. DR UCSC; uc003ctd.3; human. [Q96ER9-1] DR AGR; HGNC:25714; -. DR CTD; 79714; -. DR DisGeNET; 79714; -. DR GeneCards; CCDC51; -. DR HGNC; HGNC:25714; CCDC51. DR HPA; ENSG00000164051; Tissue enriched (choroid). DR MIM; 618585; gene. DR neXtProt; NX_Q96ER9; -. DR OpenTargets; ENSG00000164051; -. DR PharmGKB; PA142672167; -. DR VEuPathDB; HostDB:ENSG00000164051; -. DR eggNOG; ENOG502QWCS; Eukaryota. DR GeneTree; ENSGT00390000001709; -. DR HOGENOM; CLU_060968_0_0_1; -. DR InParanoid; Q96ER9; -. DR OMA; STATTWW; -. DR OrthoDB; 3428954at2759; -. DR PhylomeDB; Q96ER9; -. DR TreeFam; TF318449; -. DR PathwayCommons; Q96ER9; -. DR SignaLink; Q96ER9; -. DR BioGRID-ORCS; 79714; 87 hits in 1161 CRISPR screens. DR ChiTaRS; CCDC51; human. DR GenomeRNAi; 79714; -. DR Pharos; Q96ER9; Tdark. DR PRO; PR:Q96ER9; -. DR Proteomes; UP000005640; Chromosome 3. DR RNAct; Q96ER9; Protein. DR Bgee; ENSG00000164051; Expressed in pigmented layer of retina and 170 other cell types or tissues. DR ExpressionAtlas; Q96ER9; baseline and differential. DR GO; GO:0062157; C:mitochondrial ATP-gated potassium channel complex; IDA:UniProtKB. DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB. DR GO; GO:0062156; F:mitochondrial ATP-gated potassium channel activity; IDA:UniProtKB. DR GO; GO:0006884; P:cell volume homeostasis; IDA:ComplexPortal. DR GO; GO:0140141; P:mitochondrial potassium ion transmembrane transport; IDA:ComplexPortal. DR GO; GO:0071805; P:potassium ion transmembrane transport; IDA:UniProtKB. DR InterPro; IPR037660; CCDC51. DR PANTHER; PTHR28624; COILED-COIL DOMAIN-CONTAINING PROTEIN 51; 1. DR PANTHER; PTHR28624:SF1; MITOCHONDRIAL POTASSIUM CHANNEL; 1. DR Genevisible; Q96ER9; HS. PE 1: Evidence at protein level; KW Alternative splicing; Coiled coil; Ion channel; Ion transport; Membrane; KW Mitochondrion; Mitochondrion inner membrane; Phosphoprotein; Potassium; KW Potassium channel; Potassium transport; Reference proteome; KW Transit peptide; Transmembrane; Transmembrane helix; Transport. FT TRANSIT 1..35 FT /note="Mitochondrion" FT /evidence="ECO:0000255" FT CHAIN 36..411 FT /note="Mitochondrial potassium channel" FT /evidence="ECO:0000255" FT /id="PRO_0000288868" FT TOPO_DOM 36..201 FT /note="Mitochondrial matrix" FT /evidence="ECO:0000250|UniProtKB:Q3URS9" FT TRANSMEM 202..222 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 223..386 FT /note="Mitochondrial intermembrane" FT /evidence="ECO:0000250|UniProtKB:Q3URS9" FT TRANSMEM 387..407 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 408..411 FT /note="Mitochondrial matrix" FT /evidence="ECO:0000250|UniProtKB:Q3URS9" FT REGION 274..294 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COILED 111..173 FT /evidence="ECO:0000255" FT MOD_RES 70 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT VAR_SEQ 1..109 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_025800" FT VARIANT 360 FT /note="F -> S (in dbSNP:rs7618609)" FT /id="VAR_032515" SQ SEQUENCE 411 AA; 45811 MW; D99F1D8AF9EB8C04 CRC64; MMGRSPGFAM QHIVGVPHVL VRRGLLGRDL FMTRTLCSPG PSQPGEKRPE EVALGLHHRL PALGRALGHS IQQRATSTAK TWWDRYEEFV GLNEVREAQG KVTEAEKVFM VARGLVREAR EDLEVHQAKL KEVRDRLDRV SREDSQYLEL ATLEHRMLQE EKRLRTAYLR AEDSEREKFS LFSAAVRESH EKERTRAERT KNWSLIGSVL GALIGVAGST YVNRVRLQEL KALLLEAQKG PVSLQEAIRE QASSYSRQQR DLHNLMVDLR GLVHAAGPGQ DSGSQAGSPP TRDRDVDVLS AALKEQLSHS RQVHSCLEGL REQLDGLEKT CSQMAGVVQL VKSAAHPGLV EPADGAMPSF LLEQGSMILA LSDTEQRLEA QVNRNTIYST LVTCVTFVAT LPVLYMLFKA S //