S2546_DANRE
ID S2546_DANRE Reviewed; 405 AA.
AC Q6DGU5;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 16-AUG-2004, sequence version 1.
DT 03-AUG-2022, entry version 109.
DE RecName: Full=Mitochondrial outer membrane protein SLC25A46 {ECO:0000250|UniProtKB:Q96AG3};
DE AltName: Full=Solute carrier family 25 member 46;
GN Name=slc25a46; ORFNames=si:ch211-220b11.2, zgc:92767;
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 [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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP DISRUPTION PHENOTYPE.
RX PubMed=26168012; DOI=10.1038/ng.3354;
RA Abrams A.J., Hufnagel R.B., Rebelo A., Zanna C., Patel N., Gonzalez M.A.,
RA Campeanu I.J., Griffin L.B., Groenewald S., Strickland A.V., Tao F.,
RA Speziani F., Abreu L., Schuele R., Caporali L., La Morgia C., Maresca A.,
RA Liguori R., Lodi R., Ahmed Z.M., Sund K.L., Wang X., Krueger L.A., Peng Y.,
RA Prada C.E., Prows C.A., Schorry E.K., Antonellis A., Zimmerman H.H.,
RA Abdul-Rahman O.A., Yang Y., Downes S.M., Prince J., Fontanesi F.,
RA Barrientos A., Nemeth A.H., Carelli V., Huang T., Zuchner S., Dallman J.E.;
RT "Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic
RT atrophy spectrum disorder.";
RL Nat. Genet. 47:926-932(2015).
RN [4]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=27543974; DOI=10.1093/brain/aww212;
RA Wan J., Steffen J., Yourshaw M., Mamsa H., Andersen E.,
RA Rudnik-Schoeneborn S., Pope K., Howell K.B., McLean C.A., Kornberg A.J.,
RA Joseph J., Lockhart P.J., Zerres K., Ryan M.M., Nelson S.F., Koehler C.M.,
RA Jen J.C.;
RT "Loss of function of SLC25A46 causes lethal congenital pontocerebellar
RT hypoplasia.";
RL Brain 139:2877-2890(2016).
CC -!- FUNCTION: Transmembrane protein of the mitochondrial outer membrane
CC that controls mitochondrial organization (By similarity)
CC (PubMed:27543974). May regulate the biogenesis and dynamics of
CC mitochondrial cristae, the inwards folds of the inner mitochondrial
CC membrane (By similarity). Could regulate mitochondrial lipid
CC homeostasis and thereby mitochondrial fission (By similarity).
CC {ECO:0000250|UniProtKB:Q96AG3, ECO:0000269|PubMed:27543974}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion outer membrane
CC {ECO:0000250|UniProtKB:Q96AG3}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein produces
CC embryos with a curly tail morphology and impaired swimming, suggesting
CC dysfunction of neural circuits (PubMed:26168012). Spinal motor neurons
CC have shortened axon tracts due to degeneration of neuronal processes
CC (PubMed:27543974). Mitochondria in knockdown embryos show incomplete
CC fission, abnormal aggregation and abnormal cell localization
CC (PubMed:26168012, PubMed:27543974). {ECO:0000269|PubMed:26168012,
CC ECO:0000269|PubMed:27543974}.
CC -!- SIMILARITY: Belongs to the mitochondrial carrier (TC 2.A.29) family.
CC {ECO:0000305}.
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DR EMBL; CT027584; CAM14355.1; -; Genomic_DNA.
DR EMBL; BX294395; CAM14355.1; JOINED; Genomic_DNA.
DR EMBL; BX294395; CAM56400.1; -; Genomic_DNA.
DR EMBL; CT027584; CAM56400.1; JOINED; Genomic_DNA.
DR EMBL; BC076244; AAH76244.1; -; mRNA.
DR RefSeq; NP_001002558.1; NM_001002558.1.
DR AlphaFoldDB; Q6DGU5; -.
DR STRING; 7955.ENSDARP00000050965; -.
DR PaxDb; Q6DGU5; -.
DR Ensembl; ENSDART00000050966; ENSDARP00000050965; ENSDARG00000035181.
DR GeneID; 436831; -.
DR KEGG; dre:436831; -.
DR CTD; 91137; -.
DR ZFIN; ZDB-GENE-040718-296; slc25a46.
DR eggNOG; KOG2954; Eukaryota.
DR GeneTree; ENSGT00390000015874; -.
DR HOGENOM; CLU_047010_0_0_1; -.
DR InParanoid; Q6DGU5; -.
DR OMA; HKWNLKQ; -.
DR OrthoDB; 937901at2759; -.
DR PhylomeDB; Q6DGU5; -.
DR TreeFam; TF313365; -.
DR PRO; PR:Q6DGU5; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 5.
DR Bgee; ENSDARG00000035181; Expressed in brain and 29 other tissues.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005741; C:mitochondrial outer membrane; ISS:UniProtKB.
DR GO; GO:0043005; C:neuron projection; IMP:ZFIN.
DR GO; GO:0061564; P:axon development; IMP:ZFIN.
DR GO; GO:0000266; P:mitochondrial fission; IMP:ZFIN.
DR GO; GO:0090149; P:mitochondrial membrane fission; IEA:InterPro.
DR GO; GO:0031175; P:neuron projection development; IMP:ZFIN.
DR Gene3D; 1.50.40.10; -; 1.
DR InterPro; IPR018108; Mitochondrial_sb/sol_carrier.
DR InterPro; IPR023395; Mt_carrier_dom_sf.
DR InterPro; IPR039158; SLC25A46.
DR PANTHER; PTHR21252; PTHR21252; 1.
DR Pfam; PF00153; Mito_carr; 1.
DR SUPFAM; SSF103506; SSF103506; 1.
DR PROSITE; PS50920; SOLCAR; 1.
PE 2: Evidence at transcript level;
KW Membrane; Mitochondrion; Mitochondrion outer membrane; Reference proteome;
KW Repeat; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..405
FT /note="Mitochondrial outer membrane protein SLC25A46"
FT /id="PRO_0000291832"
FT TRANSMEM 87..107
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 151..171
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 183..203
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 242..262
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 302..322
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 371..391
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT REPEAT 80..171
FT /note="Solcar 1"
FT REPEAT 299..401
FT /note="Solcar 2"
FT REGION 1..77
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 26..48
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 405 AA; 44910 MW; 13F1CC56258A584D CRC64;
MTSRRPDSFE GLGYRGREDP AFSGGYSGRS FNNSSSSDLQ NWVTTPPDIP GSRNLHFDDR
TPQFETAPDE AQSAAPPSEQ LNRFAGFGIG LASLFTENVL AHPCIVFRRQ CQVNYHARCY
HLSPMTAISV MYNVTKTQGP KALWKGMGST FVVQGVTLGT EGIISECTPL PRELSHKWNP
KQVVGHLVLK GLTYVVAMPF YSASLIETVQ SEIIRDNPGI LDCVKEGLGR VMGMGIPHSK
RLLPLWNLVL PTVLHGILHY IISSSIQRLV LYLLRRRNNG SPKHSSPGSG MDTVQSMLDA
YFPELMASFA ASLCADVLLF PLETVLHRLH IQGTRTIIDN TDLGFEVLPI NTQYEGMRDC
INAIRREEGT MGFYKGFGSI VVQYSLHATV LQITKMIYST LLRNA
