MPV17_DANRE
ID MPV17_DANRE Reviewed; 177 AA.
AC Q5TZ51; Q7SY33;
DT 16-MAY-2006, integrated into UniProtKB/Swiss-Prot.
DT 07-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 97.
DE RecName: Full=Protein Mpv17;
GN Name=mpv17; ORFNames=zgc:63573;
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 STRAIN=AB;
RG NIH - Zebrafish Gene Collection (ZGC) project;
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP SUBCELLULAR LOCATION, DISEASE, AND TISSUE SPECIFICITY.
RX PubMed=23862018; DOI=10.1242/bio.20135132;
RA Krauss J., Astrinidis P., Astrinides P., Frohnhoefer H.G., Walderich B.,
RA Nuesslein-Volhard C.;
RT "transparent, a gene affecting stripe formation in Zebrafish, encodes the
RT mitochondrial protein Mpv17 that is required for iridophore survival.";
RL Biol. Open 2:703-710(2013).
RN [4]
RP FUNCTION, AND DISEASE.
RX PubMed=30833296; DOI=10.1242/dmm.037226;
RA Martorano L., Peron M., Laquatra C., Lidron E., Facchinello N.,
RA Meneghetti G., Tiso N., Rasola A., Ghezzi D., Argenton F.;
RT "The zebrafish orthologue of the human hepatocerebral disease gene MPV17
RT plays pleiotropic roles in mitochondria.";
RL Dis. Model. Mech. 12:0-0(2019).
CC -!- FUNCTION: Involved in mitochondrial homeostasis, and control of
CC oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance
CC (PubMed:30833296). Non-selective channel that modulates the membrane
CC potential under normal conditions and oxidative stress (By similarity).
CC {ECO:0000250|UniProtKB:P39210, ECO:0000269|PubMed:30833296}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:23862018}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:23862018}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:23862018}.
CC -!- DISEASE: Note=Genetic defects resulting in MPV17 loss are responsible
CC for the transparent (tra) mutant phenotype. 'tra' fishes display
CC pigmentation abnormalities and lack of cells derived from the neural
CC crest, such as iridophores and, at later stages of development,
CC melanophores (PubMed:23862018). MPV17-null larvae show disruption of
CC mitochondrial ultrastructure in liver cells with mitochondrial
CC ballooning and disappearance of cristae, and impaired oxidative
CC phosphorylation, insufficient pyrimidine synthesis, and mtDNA depletion
CC (PubMed:30833296). {ECO:0000269|PubMed:23862018,
CC ECO:0000269|PubMed:30833296}.
CC -!- SIMILARITY: Belongs to the peroxisomal membrane protein PXMP2/4 family.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH55143.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; BX510372; CAH68940.1; -; Genomic_DNA.
DR EMBL; BC055143; AAH55143.1; ALT_INIT; mRNA.
DR RefSeq; NP_957459.2; NM_201165.2.
DR AlphaFoldDB; Q5TZ51; -.
DR STRING; 7955.ENSDARP00000114374; -.
DR TCDB; 1.A.126.1.4; the mpv17/pmp22 4 tms putative channel (mpv17) family.
DR PaxDb; Q5TZ51; -.
DR Ensembl; ENSDART00000146544; ENSDARP00000114374; ENSDARG00000032431.
DR GeneID; 394140; -.
DR KEGG; dre:394140; -.
DR CTD; 4358; -.
DR ZFIN; ZDB-GENE-040426-1168; mpv17.
DR eggNOG; KOG1944; Eukaryota.
DR GeneTree; ENSGT00940000160891; -.
DR HOGENOM; CLU_049109_8_3_1; -.
DR InParanoid; Q5TZ51; -.
DR OMA; TYLSWKT; -.
DR OrthoDB; 1324608at2759; -.
DR PhylomeDB; Q5TZ51; -.
DR TreeFam; TF324070; -.
DR Reactome; R-DRE-9033241; Peroxisomal protein import.
DR PRO; PR:Q5TZ51; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 20.
DR Bgee; ENSDARG00000032431; Expressed in mature ovarian follicle and 25 other tissues.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0050935; P:iridophore differentiation; IMP:ZFIN.
DR GO; GO:0006225; P:UDP biosynthetic process; IMP:ZFIN.
DR InterPro; IPR007248; Mpv17_PMP22.
DR PANTHER; PTHR11266; PTHR11266; 1.
DR Pfam; PF04117; Mpv17_PMP22; 1.
PE 2: Evidence at transcript level;
KW Membrane; Mitochondrion; Mitochondrion inner membrane; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..177
FT /note="Protein Mpv17"
FT /id="PRO_0000234400"
FT TRANSMEM 19..39
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 55..75
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 95..115
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 132..152
FT /note="Helical"
FT /evidence="ECO:0000255"
FT SITE 93
FT /note="Determines ion selectivity"
FT /evidence="ECO:0000250|UniProtKB:P39210"
FT CONFLICT 22
FT /note="I -> L (in Ref. 2; AAH55143)"
FT /evidence="ECO:0000305"
FT CONFLICT 61
FT /note="F -> L (in Ref. 2; AAH55143)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 177 AA; 19672 MW; 49A003EC53FB7FEB CRC64;
MAGLWRSYQA LMAKHPWKVQ IITAGSLVGV GDVISQQLIE RRGLANHNAR RTAKMMSIGF
FFVGPVVGGW YKVLDKLVTG GTKSAALKKM LVDQVGFAPC FLGAFLGITG TLNGLTVEEN
VAKLQRDYTD ALISNYYLWP PVQIANFYFI PLHHRLAVVQ IVAVVWNSYL SWKANKM
