ID   OPA3_MOUSE              Reviewed;         179 AA.
AC   Q505D7; Q8C6Z9;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   07-JUN-2005, sequence version 1.
DT   27-MAR-2024, entry version 117.
DE   RecName: Full=Optic atrophy 3 protein homolog;
GN   Name=Opa3;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=C57BL/6J, and NOD; TISSUE=Kidney, and Mammary gland;
RX   PubMed=16141072; DOI=10.1126/science.1112014;
RA   Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA   Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA   Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA   Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA   Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA   Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA   Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA   Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA   Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA   Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA   Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA   Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA   Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA   Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA   Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA   Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA   Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA   Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA   Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA   Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA   Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA   Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA   Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA   Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA   Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA   van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA   Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA   Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA   Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA   Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA   Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA   Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA   Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA   Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT   "The transcriptional landscape of the mammalian genome.";
RL   Science 309:1559-1563(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   STRAIN=C57BL/6J; TISSUE=Brain;
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   MUTAGENESIS OF LEU-122.
RX   PubMed=18222992; DOI=10.1093/brain/awm333;
RA   Davies V.J., Powell K.A., White K.E., Yip W., Hogan V., Hollins A.J.,
RA   Davies J.R., Piechota M., Brownstein D.G., Moat S.J., Nichols P.P.,
RA   Wride M.A., Boulton M.E., Votruba M.;
RT   "A missense mutation in the murine Opa3 gene models human Costeff
RT   syndrome.";
RL   Brain 131:368-380(2008).
RN   [4]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Brain, Brown adipose tissue, Heart, Liver, and Testis;
RX   PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA   Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA   Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT   "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL   Cell 143:1174-1189(2010).
CC   -!- FUNCTION: May play some role in mitochondrial processes. {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}.
CC   -!- SIMILARITY: Belongs to the OPA3 family. {ECO:0000305}.
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DR   EMBL; AK052774; BAC35141.1; -; mRNA.
DR   EMBL; AK133480; BAE21678.1; -; mRNA.
DR   EMBL; AK154960; BAE32955.1; -; mRNA.
DR   EMBL; AK164755; BAE37900.1; -; mRNA.
DR   EMBL; AK170977; BAE42155.1; -; mRNA.
DR   EMBL; BC094601; AAH94601.1; -; mRNA.
DR   EMBL; BC132309; AAI32310.1; -; mRNA.
DR   EMBL; BC132311; AAI32312.1; -; mRNA.
DR   CCDS; CCDS20894.1; -.
DR   RefSeq; NP_997408.2; NM_207525.3.
DR   AlphaFoldDB; Q505D7; -.
DR   SMR; Q505D7; -.
DR   BioGRID; 240079; 2.
DR   STRING; 10090.ENSMUSP00000069965; -.
DR   iPTMnet; Q505D7; -.
DR   PhosphoSitePlus; Q505D7; -.
DR   SwissPalm; Q505D7; -.
DR   EPD; Q505D7; -.
DR   jPOST; Q505D7; -.
DR   MaxQB; Q505D7; -.
DR   PaxDb; 10090-ENSMUSP00000069965; -.
DR   PeptideAtlas; Q505D7; -.
DR   ProteomicsDB; 295474; -.
DR   Pumba; Q505D7; -.
DR   Antibodypedia; 31359; 241 antibodies from 25 providers.
DR   Ensembl; ENSMUST00000063976.9; ENSMUSP00000069965.9; ENSMUSG00000052214.10.
DR   GeneID; 403187; -.
DR   KEGG; mmu:403187; -.
DR   UCSC; uc009flc.1; mouse.
DR   AGR; MGI:2686271; -.
DR   CTD; 80207; -.
DR   MGI; MGI:2686271; Opa3.
DR   VEuPathDB; HostDB:ENSMUSG00000052214; -.
DR   eggNOG; KOG3335; Eukaryota.
DR   GeneTree; ENSGT00390000009795; -.
DR   HOGENOM; CLU_074707_5_1_1; -.
DR   InParanoid; Q505D7; -.
DR   OMA; WAEFEGT; -.
DR   OrthoDB; 5316632at2759; -.
DR   PhylomeDB; Q505D7; -.
DR   TreeFam; TF314653; -.
DR   BioGRID-ORCS; 403187; 4 hits in 75 CRISPR screens.
DR   ChiTaRS; Opa3; mouse.
DR   PRO; PR:Q505D7; -.
DR   Proteomes; UP000000589; Chromosome 7.
DR   RNAct; Q505D7; Protein.
DR   Bgee; ENSMUSG00000052214; Expressed in interventricular septum and 258 other cell types or tissues.
DR   ExpressionAtlas; Q505D7; baseline and differential.
DR   GO; GO:0005739; C:mitochondrion; IDA:MGI.
DR   GO; GO:0060348; P:bone development; IMP:MGI.
DR   GO; GO:0045444; P:fat cell differentiation; IMP:MGI.
DR   GO; GO:0007005; P:mitochondrion organization; IMP:MGI.
DR   GO; GO:0050905; P:neuromuscular process; IMP:MGI.
DR   GO; GO:0040008; P:regulation of growth; IMP:MGI.
DR   GO; GO:0019216; P:regulation of lipid metabolic process; IMP:MGI.
DR   GO; GO:0007601; P:visual perception; ISO:MGI.
DR   InterPro; IPR010754; OPA3-like.
DR   PANTHER; PTHR12499:SF0; OPTIC ATROPHY 3 PROTEIN; 1.
DR   PANTHER; PTHR12499; OPTIC ATROPHY 3 PROTEIN OPA3; 1.
DR   Pfam; PF07047; OPA3; 1.
DR   Genevisible; Q505D7; MM.
PE   1: Evidence at protein level;
KW   Coiled coil; Mitochondrion; Reference proteome.
FT   CHAIN           1..179
FT                   /note="Optic atrophy 3 protein homolog"
FT                   /id="PRO_0000326547"
FT   COILED          120..143
FT                   /evidence="ECO:0000255"
FT   MUTAGEN         122
FT                   /note="L->P: Homozygous mice have their visual function
FT                   which is severely reduced, consistent with significant loss
FT                   of retinal ganglion cells and degeneration of axons in the
FT                   optic nerve. They also display a severe multi-systemic
FT                   disease characterized by reduced lifespan (<4 months),
FT                   decreased weight, dilated cardiomyopathy, extrapyramidal
FT                   dysfunction and gross neuro-muscular defects."
FT                   /evidence="ECO:0000269|PubMed:18222992"
FT   CONFLICT        56
FT                   /note="T -> A (in Ref. 1; BAC35141)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   179 AA;  20110 MW;  FF948407D52F742E CRC64;
     MVVGAFPMAK LFYLGIRQVS KPLANRIKDA ARRSEFFKTY ICLPPAQLYH WVEMRTKMRI
     MGFRGTTIKP LNEEAAAELG AELLGEATIF IVGGGCLVLE YWRHQTQQRN KEEEQRAAWN
     ALQDEVGRLA LALEALQAQA QAMPSLSALE ELREELQEVR GQVCNAHCTS KCQAASSKK
//