ES1_DANRE
ID ES1_DANRE Reviewed; 270 AA.
AC Q90257; Q0D274;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 10-OCT-2018, sequence version 2.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=ES1 protein, mitochondrial {ECO:0000305};
DE Flags: Precursor;
GN Name=es1 {ECO:0000303|PubMed:9266834};
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], PROTEIN SEQUENCE OF 105-137, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Eye;
RX PubMed=9266834; DOI=10.1006/bbrc.1997.7081;
RA Chang H., Gilbert W.;
RT "A novel zebrafish gene expressed specifically in the photoreceptor cells
RT of the retina.";
RL Biochem. Biophys. Res. Commun. 237:84-89(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DISRUPTION
RP PHENOTYPE.
RX PubMed=26926452; DOI=10.1038/srep22360;
RA Masuda T., Wada Y., Kawamura S.;
RT "ES1 is a mitochondrial enlarging factor contributing to form mega-
RT mitochondria in zebrafish cones.";
RL Sci. Rep. 6:22360-22360(2016).
CC -!- FUNCTION: Plays a role in promoting mitochondrial enlargement in cone
CC photoreceptor cells in a fusion-independent and ATP-dependent manner.
CC {ECO:0000269|PubMed:26926452}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:26926452}.
CC Note=Colocalized with tom20 in cone mitochondria. Uniformly distributed
CC throughout all mitochondria in cone ellipsoids including mega-
CC mitochondria. {ECO:0000269|PubMed:26926452}.
CC -!- TISSUE SPECIFICITY: Expressed specifically in the inner segments of
CC cone photoreceptor cells of the retina (at protein level).
CC {ECO:0000269|PubMed:26926452, ECO:0000269|PubMed:9266834}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein display
CC decreased eye size and formation of smaller mitochondria in cone
CC ellipsoid photoreceptor cells. {ECO:0000269|PubMed:26926452}.
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; U10403; AAC60261.1; -; mRNA.
DR EMBL; BX323451; CAQ13297.1; -; Genomic_DNA.
DR EMBL; FP015956; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; FP017299; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC122433; AAI22434.1; -; mRNA.
DR PIR; JC5603; JC5603.
DR RefSeq; NP_571114.1; NM_131039.1.
DR AlphaFoldDB; Q90257; -.
DR SMR; Q90257; -.
DR STRING; 7955.ENSDARP00000112917; -.
DR PaxDb; Q90257; -.
DR Ensembl; ENSDART00000146667; ENSDARP00000112917; ENSDARG00000094516.
DR GeneID; 30237; -.
DR KEGG; dre:30237; -.
DR CTD; 30237; -.
DR ZFIN; ZDB-GENE-980526-188; gatd3l.
DR eggNOG; ENOG502QV3Z; Eukaryota.
DR GeneTree; ENSGT00390000003706; -.
DR HOGENOM; CLU_072952_0_0_1; -.
DR InParanoid; Q90257; -.
DR OMA; HGDYGNW; -.
DR OrthoDB; 1204104at2759; -.
DR PhylomeDB; Q90257; -.
DR TreeFam; TF329408; -.
DR PRO; PR:Q90257; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 8.
DR Bgee; ENSDARG00000094516; Expressed in eye photoreceptor cell and 2 other tissues.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0070584; P:mitochondrion morphogenesis; IMP:ZFIN.
DR Gene3D; 3.40.50.880; -; 1.
DR InterPro; IPR029062; Class_I_gatase-like.
DR SUPFAM; SSF52317; SSF52317; 1.
PE 1: Evidence at protein level;
KW Direct protein sequencing; Mitochondrion; Reference proteome;
KW Transit peptide.
FT TRANSIT 1..?
FT /note="Mitochondrion"
FT /evidence="ECO:0000255"
FT CHAIN ?..270
FT /note="ES1 protein, mitochondrial"
FT /id="PRO_0000008546"
FT CONFLICT 98
FT /note="M -> I (in Ref. 1; AAC60261)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 270 AA; 30703 MW; C99ADCF0612817C4 CRC64;
MLASRALLAK QAAAMLVRQP ACLMHHGGDW GNWGNTNIAV VFSGCGWWDG TDIHEAAYTM
YHLSRNGARF QIFAPNQQQM HVMDHMKMQP SSSDNRNMMM ESARFSHGQG MMQMNDLSKL
DANSFDAVIF PGGHGIVKNM STFSKDGKDC KLNNDVERVL KDFHRARKPI GLSSMAPLLA
CRVLPSLEVT MGYERDESSR WGRWPNTNMV QAVKSMGARH NTREPYEAYV DEKNKVISTP
TFMWETDYHY HYIFDGIGNM VKHVMRMTAK