ID   RPZ_DANRE               Reviewed;         227 AA.
AC   F1QUP1; B9VEN0;
DT   12-SEP-2018, integrated into UniProtKB/Swiss-Prot.
DT   03-MAY-2011, sequence version 1.
DT   03-AUG-2022, entry version 56.
DE   RecName: Full=Protein rapunzel {ECO:0000303|PubMed:19632218};
GN   Name=rpz {ECO:0000312|ZFIN:ZDB-GENE-070117-651};
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 {ECO:0000312|Proteomes:UP000000437};
RN   [1] {ECO:0000312|EMBL:ACM17386.1}
RP   NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE, AND
RP   MUTAGENESIS OF VAL-90.
RX   PubMed=19632218; DOI=10.1016/j.ydbio.2009.07.025;
RA   Green J., Taylor J.J., Hindes A., Johnson S.L., Goldsmith M.I.;
RT   "A gain of function mutation causing skeletal overgrowth in the rapunzel
RT   mutant.";
RL   Dev. Biol. 334:224-234(2009).
RN   [2] {ECO:0000312|Proteomes:UP000000437}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=Tuebingen {ECO:0000312|Proteomes:UP000000437};
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   MUTAGENESIS OF VAL-90.
RX   PubMed=12871703; DOI=10.1016/s0012-1606(03)00186-6;
RA   Goldsmith M.I., Fisher S., Waterman R., Johnson S.L.;
RT   "Saltatory control of isometric growth in the zebrafish caudal fin is
RT   disrupted in long fin and rapunzel mutants.";
RL   Dev. Biol. 259:303-317(2003).
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC       protein {ECO:0000255}.
CC   -!- DEVELOPMENTAL STAGE: At 24 hours post-fertilization (hpf), detected in
CC       the somites, tail bud region adjacent to the fin fold, pectoral fin
CC       buds and the head. A similar expression pattern is observed at 48 hpf,
CC       although levels are reduced. By 120 hpf, expression is almost
CC       completely undetectable. {ECO:0000269|PubMed:19632218}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein has no
CC       visible phenotype. Morpholino knockdown in animals homozygous for the
CC       c14 allele suppresses the c14 phenotype. {ECO:0000269|PubMed:19632218}.
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DR   EMBL; FJ539169; ACM17386.1; -; mRNA.
DR   EMBL; CU861453; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; NP_001138710.1; NM_001145238.1.
DR   RefSeq; XP_017206792.1; XM_017351303.1.
DR   AlphaFoldDB; F1QUP1; -.
DR   STRING; 7955.ENSDARP00000110329; -.
DR   PaxDb; F1QUP1; -.
DR   Ensembl; ENSDART00000130264; ENSDARP00000110329; ENSDARG00000091161.
DR   GeneID; 100002737; -.
DR   KEGG; dre:100002737; -.
DR   CTD; 100002737; -.
DR   ZFIN; ZDB-GENE-070117-651; rpz.
DR   eggNOG; ENOG502QUS6; Eukaryota.
DR   GeneTree; ENSGT00940000165143; -.
DR   HOGENOM; CLU_106343_0_0_1; -.
DR   InParanoid; F1QUP1; -.
DR   OMA; RVMERLC; -.
DR   OrthoDB; 754838at2759; -.
DR   PhylomeDB; F1QUP1; -.
DR   PRO; PR:F1QUP1; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 16.
DR   Bgee; ENSDARG00000091161; Expressed in muscle tissue and 26 other tissues.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0033333; P:fin development; IMP:ZFIN.
DR   InterPro; IPR039051; SE-CTX-like.
DR   PANTHER; PTHR40472; PTHR40472; 1.
PE   1: Evidence at protein level;
KW   Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..227
FT                   /note="Protein rapunzel"
FT                   /id="PRO_0000444989"
FT   TRANSMEM        179..196
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   MUTAGEN         90
FT                   /note="V->E: In c14; gain-of-function mutation. Homozygous
FT                   lethal, with no survival beyond 5 days post-fertilization
FT                   (dpf). At 3 dpf, embryos show a range of developmental
FT                   defects including a shortened and curved body axis,
FT                   pericardial edema, malformed fin folds and a poorly
FT                   developed jaw. Heterozygous adults have a fin overgrowth
FT                   phenotype characterized by increased segment number. In
FT                   addition, animals develop marked hyperossification of the
FT                   axial skeleton. At two weeks of age, there is increased
FT                   expression of genes involved in skeletal development
FT                   including col2a1, col10a1 and osx."
FT                   /evidence="ECO:0000269|PubMed:12871703,
FT                   ECO:0000269|PubMed:19632218"
FT   CONFLICT        169
FT                   /note="H -> Q (in Ref. 1; ACM17386)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   227 AA;  26604 MW;  7F6C9F6FDF91AC4D CRC64;
     MADNELFDDP EKLKRGLVKV LECVATISSA AAVVNPIFGV AGSLIRVVLH HVDDEDLQKL
     KREFGSVNRA LDEISQQNRQ ALLQIRKETV DRQYHEVEEN IRHQFRKFME IMEAKPEHLQ
     RKKEDFVESF INDKDDQNMY TLYDGVMGKR KLFSQPILDV YMKHSQGDHR VMENLCTRLA
     YLFCIGFIAL MGYYGILGDD LESRNEEWEE NMRNVQEKMQ EVLRSCK