GenomeNet

Database: UniProt
Entry: E5KLJ9_HUMAN
LinkDB: E5KLJ9_HUMAN
Original site: E5KLJ9_HUMAN 
ID   E5KLJ9_HUMAN            Unreviewed;       979 AA.
AC   E5KLJ9;
DT   08-FEB-2011, integrated into UniProtKB/TrEMBL.
DT   08-FEB-2011, sequence version 1.
DT   24-JAN-2024, entry version 106.
DE   RecName: Full=Dynamin-like 120 kDa protein, mitochondrial {ECO:0000256|ARBA:ARBA00018307};
DE            EC=3.6.5.5 {ECO:0000256|ARBA:ARBA00011980};
GN   Name=OPA1 {ECO:0000313|EMBL:EAW78072.1,
GN   ECO:0000313|Ensembl:ENSP00000355311.2};
GN   ORFNames=hCG_17270 {ECO:0000313|EMBL:EAW78072.1};
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 {ECO:0000313|EMBL:ADP90058.1};
RN   [1] {ECO:0000313|EMBL:EAW78072.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=11181995; DOI=10.1126/science.1058040;
RA   Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G.,
RA   Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P.,
RA   Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H.,
RA   Chen L., Skupski M., Subramanian G., Thomas P.D., Zhang J.,
RA   Gabor Miklos G.L., Nelson C., Broder S., Clark A.G., Nadeau J.,
RA   McKusick V.A., Zinder N., Levine A.J., Roberts R.J., Simon M., Slayman C.,
RA   Hunkapiller M., Bolanos R., Delcher A., Dew I., Fasulo D., Flanigan M.,
RA   Florea L., Halpern A., Hannenhalli S., Kravitz S., Levy S., Mobarry C.,
RA   Reinert K., Remington K., Abu-Threideh J., Beasley E., Biddick K.,
RA   Bonazzi V., Brandon R., Cargill M., Chandramouliswaran I., Charlab R.,
RA   Chaturvedi K., Deng Z., Di Francesco V., Dunn P., Eilbeck K.,
RA   Evangelista C., Gabrielian A.E., Gan W., Ge W., Gong F., Gu Z., Guan P.,
RA   Heiman T.J., Higgins M.E., Ji R.R., Ke Z., Ketchum K.A., Lai Z., Lei Y.,
RA   Li Z., Li J., Liang Y., Lin X., Lu F., Merkulov G.V., Milshina N.,
RA   Moore H.M., Naik A.K., Narayan V.A., Neelam B., Nusskern D., Rusch D.B.,
RA   Salzberg S., Shao W., Shue B., Sun J., Wang Z., Wang A., Wang X., Wang J.,
RA   Wei M., Wides R., Xiao C., Yan C., Yao A., Ye J., Zhan M., Zhang W.,
RA   Zhang H., Zhao Q., Zheng L., Zhong F., Zhong W., Zhu S., Zhao S.,
RA   Gilbert D., Baumhueter S., Spier G., Carter C., Cravchik A., Woodage T.,
RA   Ali F., An H., Awe A., Baldwin D., Baden H., Barnstead M., Barrow I.,
RA   Beeson K., Busam D., Carver A., Center A., Cheng M.L., Curry L.,
RA   Danaher S., Davenport L., Desilets R., Dietz S., Dodson K., Doup L.,
RA   Ferriera S., Garg N., Gluecksmann A., Hart B., Haynes J., Haynes C.,
RA   Heiner C., Hladun S., Hostin D., Houck J., Howland T., Ibegwam C.,
RA   Johnson J., Kalush F., Kline L., Koduru S., Love A., Mann F., May D.,
RA   McCawley S., McIntosh T., McMullen I., Moy M., Moy L., Murphy B.,
RA   Nelson K., Pfannkoch C., Pratts E., Puri V., Qureshi H., Reardon M.,
RA   Rodriguez R., Rogers Y.H., Romblad D., Ruhfel B., Scott R., Sitter C.,
RA   Smallwood M., Stewart E., Strong R., Suh E., Thomas R., Tint N.N., Tse S.,
RA   Vech C., Wang G., Wetter J., Williams S., Williams M., Windsor S.,
RA   Winn-Deen E., Wolfe K., Zaveri J., Zaveri K., Abril J.F., Guigo R.,
RA   Campbell M.J., Sjolander K.V., Karlak B., Kejariwal A., Mi H., Lazareva B.,
RA   Hatton T., Narechania A., Diemer K., Muruganujan A., Guo N., Sato S.,
RA   Bafna V., Istrail S., Lippert R., Schwartz R., Walenz B., Yooseph S.,
RA   Allen D., Basu A., Baxendale J., Blick L., Caminha M., Carnes-Stine J.,
RA   Caulk P., Chiang Y.H., Coyne M., Dahlke C., Mays A., Dombroski M.,
RA   Donnelly M., Ely D., Esparham S., Fosler C., Gire H., Glanowski S.,
RA   Glasser K., Glodek A., Gorokhov M., Graham K., Gropman B., Harris M.,
RA   Heil J., Henderson S., Hoover J., Jennings D., Jordan C., Jordan J.,
RA   Kasha J., Kagan L., Kraft C., Levitsky A., Lewis M., Liu X., Lopez J.,
RA   Ma D., Majoros W., McDaniel J., Murphy S., Newman M., Nguyen T., Nguyen N.,
RA   Nodell M., Pan S., Peck J., Peterson M., Rowe W., Sanders R., Scott J.,
RA   Simpson M., Smith T., Sprague A., Stockwell T., Turner R., Venter E.,
RA   Wang M., Wen M., Wu D., Wu M., Xia A., Zandieh A., Zhu X.;
RT   "The sequence of the human genome.";
RL   Science 291:1304-1351(2001).
RN   [2] {ECO:0000313|EMBL:EAW78072.1}
RP   NUCLEOTIDE SEQUENCE.
RA   Mural R.J., Istrail S., Sutton 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3] {ECO:0000313|Ensembl:ENSP00000355311.2, ECO:0000313|Proteomes:UP000005640}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16641997; DOI=10.1038/nature04728;
RA   Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA   Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA   Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA   Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA   Sodergren E., Song X.Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA   Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA   Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA   Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA   Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA   Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA   Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA   Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.V., Okwuonu G.O.,
RA   Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA   Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA   Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA   Wang J., Wang Q., Williams G.A., Wong G.K., Yao Z., Zhang J., Zhang X.,
RA   Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA   Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT   "The DNA sequence, annotation and analysis of human chromosome 3.";
RL   Nature 440:1194-1198(2006).
RN   [4] {ECO:0007829|PubMed:19608861}
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=19608861; DOI=10.1126/science.1175371;
RA   Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA   Olsen J.V., Mann M.;
RT   "Lysine acetylation targets protein complexes and co-regulates major
RT   cellular functions.";
RL   Science 325:834-840(2009).
RN   [5] {ECO:0007829|PubMed:21269460}
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., Burckstummer 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] {ECO:0000313|EMBL:ADP90058.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=20843780; DOI=10.1093/nar/gkq750;
RA   Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R.,
RA   Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M.,
RA   Speed T.P., Scharfe C.;
RT   "Identification of rare DNA variants in mitochondrial disorders with
RT   improved array-based sequencing.";
RL   Nucleic Acids Res. 39:44-58(2011).
RN   [7] {ECO:0007829|PubMed:24275569}
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
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   [8] {ECO:0007829|PubMed:25944712}
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=25944712;
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   [9] {ECO:0000313|Ensembl:ENSP00000355311.2}
RP   IDENTIFICATION.
RG   Ensembl;
RL   Submitted (SEP-2023) to UniProtKB.
CC   -!- CATALYTIC ACTIVITY:
CC       Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669,
CC         ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565,
CC         ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.5;
CC         Evidence={ECO:0000256|ARBA:ARBA00001837};
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000256|ARBA:ARBA00004167}; Single-
CC       pass membrane protein {ECO:0000256|ARBA:ARBA00004167}. Mitochondrion
CC       inner membrane {ECO:0000256|ARBA:ARBA00004434}; Single-pass membrane
CC       protein {ECO:0000256|ARBA:ARBA00004434}. Mitochondrion membrane
CC       {ECO:0000256|ARBA:ARBA00004325}.
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DR   EMBL; AC048351; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC106710; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; HQ204906; ADP90058.1; -; Genomic_DNA.
DR   EMBL; HQ204907; ADP90066.1; -; Genomic_DNA.
DR   EMBL; HQ204908; ADP90074.1; -; Genomic_DNA.
DR   EMBL; HQ204909; ADP90082.1; -; Genomic_DNA.
DR   EMBL; HQ204910; ADP90090.1; -; Genomic_DNA.
DR   EMBL; HQ204911; ADP90098.1; -; Genomic_DNA.
DR   EMBL; HQ204912; ADP90106.1; -; Genomic_DNA.
DR   EMBL; HQ204913; ADP90114.1; -; Genomic_DNA.
DR   EMBL; HQ204914; ADP90122.1; -; Genomic_DNA.
DR   EMBL; HQ204915; ADP90130.1; -; Genomic_DNA.
DR   EMBL; HQ204916; ADP90138.1; -; Genomic_DNA.
DR   EMBL; HQ204917; ADP90146.1; -; Genomic_DNA.
DR   EMBL; HQ204918; ADP90154.1; -; Genomic_DNA.
DR   EMBL; HQ204919; ADP90162.1; -; Genomic_DNA.
DR   EMBL; HQ204920; ADP90170.1; -; Genomic_DNA.
DR   EMBL; HQ204921; ADP90178.1; -; Genomic_DNA.
DR   EMBL; HQ204922; ADP90186.1; -; Genomic_DNA.
DR   EMBL; HQ204923; ADP90194.1; -; Genomic_DNA.
DR   EMBL; HQ204924; ADP90202.1; -; Genomic_DNA.
DR   EMBL; HQ204925; ADP90210.1; -; Genomic_DNA.
DR   EMBL; HQ204926; ADP90218.1; -; Genomic_DNA.
DR   EMBL; HQ204927; ADP90226.1; -; Genomic_DNA.
DR   EMBL; HQ204928; ADP90234.1; -; Genomic_DNA.
DR   EMBL; HQ204929; ADP90242.1; -; Genomic_DNA.
DR   EMBL; HQ204930; ADP90250.1; -; Genomic_DNA.
DR   EMBL; HQ204931; ADP90258.1; -; Genomic_DNA.
DR   EMBL; HQ204932; ADP90266.1; -; Genomic_DNA.
DR   EMBL; HQ204933; ADP90274.1; -; Genomic_DNA.
DR   EMBL; HQ204934; ADP90282.1; -; Genomic_DNA.
DR   EMBL; HQ204935; ADP90290.1; -; Genomic_DNA.
DR   EMBL; HQ204936; ADP90298.1; -; Genomic_DNA.
DR   EMBL; HQ204937; ADP90306.1; -; Genomic_DNA.
DR   EMBL; HQ204938; ADP90314.1; -; Genomic_DNA.
DR   EMBL; HQ204939; ADP90322.1; -; Genomic_DNA.
DR   EMBL; HQ204940; ADP90330.1; -; Genomic_DNA.
DR   EMBL; HQ204941; ADP90338.1; -; Genomic_DNA.
DR   EMBL; HQ204942; ADP90346.1; -; Genomic_DNA.
DR   EMBL; HQ204943; ADP90354.1; -; Genomic_DNA.
DR   EMBL; HQ204944; ADP90362.1; -; Genomic_DNA.
DR   EMBL; HQ204945; ADP90370.1; -; Genomic_DNA.
DR   EMBL; CH471052; EAW78072.1; -; Genomic_DNA.
DR   RefSeq; NP_570848.1; NM_130835.2.
DR   MassIVE; E5KLJ9; -.
DR   ProteomicsDB; 15299; -.
DR   Antibodypedia; 33885; 353 antibodies from 32 providers.
DR   DNASU; 4976; -.
DR   Ensembl; ENST00000361715.6; ENSP00000355311.2; ENSG00000198836.11.
DR   GeneID; 4976; -.
DR   UCSC; uc003fth.4; human.
DR   CTD; 4976; -.
DR   HGNC; HGNC:8140; OPA1.
DR   VEuPathDB; HostDB:ENSG00000198836; -.
DR   GeneTree; ENSGT00550000074851; -.
DR   OrthoDB; 48011at2759; -.
DR   BioGRID-ORCS; 4976; 470 hits in 1165 CRISPR screens.
DR   ChiTaRS; OPA1; human.
DR   GenomeRNAi; 4976; -.
DR   Proteomes; UP000005640; Chromosome 3.
DR   Bgee; ENSG00000198836; Expressed in adrenal tissue and 205 other cell types or tissues.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0005525; F:GTP binding; IEA:InterPro.
DR   GO; GO:0003924; F:GTPase activity; IEA:InterPro.
DR   GO; GO:0008289; F:lipid binding; IEA:UniProtKB-KW.
DR   GO; GO:0006915; P:apoptotic process; IEA:UniProtKB-KW.
DR   CDD; cd08771; DLP_1; 1.
DR   Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 1.
DR   InterPro; IPR022812; Dynamin.
DR   InterPro; IPR001401; Dynamin_GTPase.
DR   InterPro; IPR045063; Dynamin_N.
DR   InterPro; IPR030381; G_DYNAMIN_dom.
DR   InterPro; IPR045817; OPA1_C.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   PANTHER; PTHR11566; DYNAMIN; 1.
DR   PANTHER; PTHR11566:SF67; DYNAMIN-LIKE 120 KDA PROTEIN, MITOCHONDRIAL; 1.
DR   Pfam; PF00350; Dynamin_N; 1.
DR   Pfam; PF19434; OPA1_C; 1.
DR   PRINTS; PR00195; DYNAMIN.
DR   SMART; SM00053; DYNc; 1.
DR   SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 1.
DR   PROSITE; PS51718; G_DYNAMIN_2; 1.
PE   1: Evidence at protein level;
KW   Apoptosis {ECO:0000256|ARBA:ARBA00022703};
KW   Coiled coil {ECO:0000256|ARBA:ARBA00023054, ECO:0000256|SAM:Coils};
KW   Lipid-binding {ECO:0000256|ARBA:ARBA00023121};
KW   Membrane {ECO:0000256|ARBA:ARBA00023136};
KW   Mitochondrion {ECO:0000256|ARBA:ARBA00023128};
KW   Mitochondrion inner membrane {ECO:0000256|ARBA:ARBA00022792};
KW   Proteomics identification {ECO:0007829|EPD:E5KLJ9,
KW   ECO:0007829|MaxQB:E5KLJ9};
KW   Reference proteome {ECO:0000313|Proteomes:UP000005640};
KW   Transit peptide {ECO:0000256|ARBA:ARBA00022946};
KW   Transmembrane {ECO:0000256|ARBA:ARBA00022692};
KW   Transmembrane helix {ECO:0000256|ARBA:ARBA00022989}.
FT   DOMAIN          304..580
FT                   /note="Dynamin-type G"
FT                   /evidence="ECO:0000259|PROSITE:PS51718"
FT   COILED          189..272
FT                   /evidence="ECO:0000256|SAM:Coils"
SQ   SEQUENCE   979 AA;  113681 MW;  45BB53BF00D02989 CRC64;
     MWRLRRAAVA CEVCQSLVKH SSGIKGSLPL QKLHLVSRSI YHSHHPTLKL QRPQLRTSFQ
     QFSSLTNLPL RKLKFSPIKY GYQPRRNFWP ARLATRLLKL RYLILGSAVG GGYTAKKTFD
     QWKDMIPDLS EYKWIVPDIV WEIDEYIDFG HKLVSEVIGA SDLLLLLGSP EETAFRATDR
     GSESDKHFRK GLLGELILLQ QQIQEHEEEA RRAAGQYSTS YAQQKRKVSD KEKIDQLQEE
     LLHTQLKYQR ILERLEKENK ELRKLVLQKD DKGIHHRKLK KSLIDMYSEV LDVLSDYDAS
     YNTQDHLPRV VVVGDQSAGK TSVLEMIAQA RIFPRGSGEM MTRSPVKVTL SEGPHHVALF
     KDSSREFDLT KEEDLAALRH EIELRMRKNV KEGCTVSPET ISLNVKGPGL QRMVLVDLPG
     VINTVTSGMA PDTKETIFSI SKAYMQNPNA IILCIQDGSV DAERSIVTDL VSQMDPHGRR
     TIFVLTKVDL AEKNVASPSR IQQIIEGKLF PMKALGYFAV VTGKGNSSES IEAIREYEEE
     FFQNSKLLKT SMLKAHQVTT RNLSLAVSDC FWKMVRESVE QQADSFKATR FNLETEWKNN
     YPRLRELDRN ELFEKAKNEI LDEVISLSQV TPKHWEEILQ QSLWERVSTH VIENIYLPAA
     QTMNSGTFNT TVDIKLKQWT DKQLPNKAVE VAWETLQEEF SRFMTEPKGK EHDDIFDKLK
     EAVKEESIKR HKWNDFAEDS LRVIQHNALE DRSISDKQQW DAAIYFMEEA LQARLKDTEN
     AIENMVGPDW KKRWLYWKNR TQEQCVHNET KNELEKMLKC NEEHPAYLAS DEITTVRKNL
     ESRGVEVDPS LIKDTWHQVY RRHFLKTALN HCNLCRRGFY YYQRHFVDSE LECNDVVLFW
     RIQRMLAITA NTLRQQLTNT EVRRLEKNVK EVLEDFAEDG EKKIKLLTGK RVQLAEDLKK
     VREIQEKLDA FIEALHQEK
//
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