ID F1QDK4_DANRE Unreviewed; 594 AA.
AC F1QDK4; A0A8M1P935;
DT 03-MAY-2011, integrated into UniProtKB/TrEMBL.
DT 03-MAY-2011, sequence version 1.
DT 27-MAR-2024, entry version 73.
DE SubName: Full=Dystrophin {ECO:0000313|Ensembl:ENSDARP00000003044, ECO:0000313|RefSeq:NP_571860.2};
GN Name=dmd {ECO:0000313|Ensembl:ENSDARP00000003044,
GN ECO:0000313|RefSeq:NP_571860.2, ECO:0000313|ZFIN:ZDB-GENE-010426-1};
GN Synonyms=cb664 {ECO:0000313|RefSeq:NP_571860.2}, Dp71
GN {ECO:0000313|RefSeq:NP_571860.2}, im:6911785
GN {ECO:0000313|RefSeq:NP_571860.2}, zfDYS
GN {ECO:0000313|RefSeq:NP_571860.2}, zgc:110165
GN {ECO:0000313|RefSeq:NP_571860.2};
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:0000313|Ensembl:ENSDARP00000003044};
RN [1] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=9007258;
RA Granato M., van Eeden F.J., Schach U., Trowe T., Brand M.,
RA Furutani-Seiki M., Haffter P., Hammerschmidt M., Heisenberg C.P.,
RA Jiang Y.J., Kane D.A., Kelsh R.N., Mullins M.C., Odenthal J.,
RA Nusslein-Volhard C.;
RT "Genes controlling and mediating locomotion behavior of the zebrafish
RT embryo and larva.";
RL Development 123:399-413(1996).
RN [2] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=12091319;
RA Parsons M.J., Campos I., Hirst E.M., Stemple D.L.;
RT "Removal of dystroglycan causes severe muscular dystrophy in zebrafish
RT embryos.";
RL Development 129:3505-3512(2002).
RN [3] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=12659844;
RA Chambers S.P., Anderson L.V., Maguire G.M., Dodd A., Love D.R.;
RT "Sarcoglycans of the zebrafish: orthology and localization to the
RT sarcolemma and myosepta of muscle.";
RL Biochem. Biophys. Res. Commun. 303:488-495(2003).
RN [4] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=14573513; DOI=10.1242/dev.00799;
RA Bassett D.I., Bryson-Richardson R.J., Daggett D.F., Gautier P.,
RA Keenan D.G., Currie P.D.;
RT "Dystrophin is required for the formation of stable muscle attachments in
RT the zebrafish embryo.";
RL Development 130:5851-5860(2003).
RN [5] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=12620966;
RA Guyon J.R., Mosley A.N., Zhou Y., O'Brien K.F., Sheng X., Chiang K.,
RA Davidson A.J., Volinski J.M., Zon L.I., Kunkel L.M.;
RT "The dystrophin associated protein complex in zebrafish.";
RL Hum. Mol. Genet. 12:601-615(2003).
RN [6] {ECO:0000313|Ensembl:ENSDARP00000003044}
RP IDENTIFICATION.
RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000003044};
RG Ensembl;
RL Submitted (JUL-2011) to UniProtKB.
RN [7] {ECO:0000313|Ensembl:ENSDARP00000003044, ECO:0000313|Proteomes:UP000000437}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen {ECO:0000313|Ensembl:ENSDARP00000003044};
RX PubMed=23594743; DOI=10.1038/nature12111;
RG Genome Reference Consortium Zebrafish;
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., Eliott D.,
RA Threadgold G., Harden G., Ware D., Begum S., Mortimore B., Mortimer B.,
RA Kerry G., Heath P., Phillimore B., Tracey A., Corby N., Dunn M.,
RA Johnson C., Wood J., Clark S., Pelan S., Griffiths G., Smith M.,
RA Glithero R., Howden P., Barker N., Lloyd C., Stevens C., Harley J.,
RA Holt K., Panagiotidis G., Lovell J., Beasley H., Henderson C., Gordon D.,
RA Auger K., Wright D., Collins J., Raisen C., Dyer L., Leung K.,
RA Robertson L., Ambridge K., Leongamornlert D., McGuire S., Gilderthorp R.,
RA Griffiths C., Manthravadi D., Nichol S., Barker G., Whitehead S., Kay M.,
RA Brown J., Murnane C., Gray E., Humphries M., Sycamore N., Barker D.,
RA Saunders D., Wallis J., Babbage A., Hammond S., Mashreghi-Mohammadi M.,
RA Barr L., Martin S., Wray P., Ellington A., Matthews N., Ellwood M.,
RA Woodmansey R., Clark G., Cooper J., Cooper J., Tromans A., Grafham D.,
RA Skuce C., Pandian R., Andrews R., Harrison E., Kimberley A., Garnett J.,
RA Fosker N., Hall R., Garner P., Kelly D., Bird C., Palmer S., Gehring I.,
RA Berger A., Dooley C.M., Ersan-Urun Z., Eser C., Geiger H., Geisler M.,
RA Karotki L., Kirn A., Konantz J., Konantz M., Oberlander M.,
RA Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G., Osoegawa K., Zhu B.,
RA Rapp A., Widaa S., Langford C., Yang F., Schuster S.C., Carter N.P.,
RA Harrow J., Ning Z., Herrero J., Searle S.M., Enright A., Geisler R.,
RA Plasterk R.H., Lee C., Westerfield M., de Jong P.J., Zon L.I.,
RA Postlethwait J.H., Nusslein-Volhard C., Hubbard T.J., Roest Crollius H.,
RA 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 [8] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=28658625;
RA Nelson A.C., Cutty S.J., Gasiunas S.N., Deplae I., Stemple D.L.,
RA Wardle F.C.;
RT "In Vivo Regulation of the Zebrafish Endoderm Progenitor Niche by T-Box
RT Transcription Factors.";
RL Cell Rep. 19:2782-2795(2017).
RN [9] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=28252024;
RA Bayes A., Collins M.O., Reig-Viader R., Gou G., Goulding D., Izquierdo A.,
RA Choudhary J.S., Emes R.D., Grant S.G.;
RT "Evolution of complexity in the zebrafish synapse proteome.";
RL Nat. Commun. 8:14613-14613(2017).
RN [10] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=28241031;
RA Smith S.J., Wang J.C., Gupta V.A., Dowling J.J.;
RT "A novel early onset phenotype in a zebrafish model of merosin deficient
RT congenital muscular dystrophy.";
RL PLoS ONE 12:e0172648-e0172648(2017).
RN [11] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=28533404;
RA Vieira N.M., Spinazzola J.M., Alexander M.S., Moreira Y.B., Kawahara G.,
RA Gibbs D.E., Mead L.C., Verjovski-Almeida S., Zatz M., Kunkel L.M.;
RT "Repression of phosphatidylinositol transfer protein alpha ameliorates the
RT pathology of Duchenne muscular dystrophy.";
RL Proc. Natl. Acad. Sci. U.S.A. 114:6080-6085(2017).
RN [12] {ECO:0000313|RefSeq:NP_571860.2}
RP NUCLEOTIDE SEQUENCE.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RX PubMed=30135524;
RA Fauquier L., Azzag K., Parra M.A.M., Quillien A., Boulet M., Diouf S.,
RA Carnac G., Waltzer L., Gronemeyer H., Vandel L.;
RT "CBP and P300 regulate distinct gene networks required for human primary
RT myoblast differentiation and muscle integrity.";
RL Sci. Rep. 8:12629-12629(2018).
RN [13] {ECO:0000313|RefSeq:NP_571860.2}
RP IDENTIFICATION.
RC STRAIN=Tuebingen {ECO:0000313|RefSeq:NP_571860.2};
RG RefSeq;
RL Submitted (NOV-2023) to UniProtKB.
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DR EMBL; BX004756; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX323020; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX323090; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; NP_571860.2; NM_131785.2.
DR STRING; 7955.ENSDARP00000003044; -.
DR Ensembl; ENSDART00000009886; ENSDARP00000003044; ENSDARG00000008487.
DR Ensembl; ENSDART00000009886.9; ENSDARP00000003044.7; ENSDARG00000008487.12.
DR GeneID; 83773; -.
DR AGR; ZFIN:ZDB-GENE-010426-1; -.
DR CTD; 1756; -.
DR ZFIN; ZDB-GENE-010426-1; dmd.
DR OrthoDB; 2880153at2759; -.
DR TreeFam; TF333986; -.
DR Proteomes; UP000000437; Chromosome 1.
DR Bgee; ENSDARG00000008487; Expressed in muscle tissue and 26 other cell types or tissues.
DR GO; GO:0016010; C:dystrophin-associated glycoprotein complex; NAS:ZFIN.
DR GO; GO:0042383; C:sarcolemma; IDA:ZFIN.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0008270; F:zinc ion binding; IEA:InterPro.
DR GO; GO:0016203; P:muscle attachment; IMP:ZFIN.
DR GO; GO:0055001; P:muscle cell development; IBA:GO_Central.
DR GO; GO:0006936; P:muscle contraction; IMP:ZFIN.
DR GO; GO:0007517; P:muscle organ development; IMP:ZFIN.
DR GO; GO:0048666; P:neuron development; IBA:GO_Central.
DR GO; GO:0090257; P:regulation of muscle system process; IBA:GO_Central.
DR GO; GO:0045214; P:sarcomere organization; IMP:ZFIN.
DR GO; GO:0048741; P:skeletal muscle fiber development; IMP:ZFIN.
DR GO; GO:0007519; P:skeletal muscle tissue development; IMP:ZFIN.
DR GO; GO:0007525; P:somatic muscle development; IMP:ZFIN.
DR GO; GO:0061053; P:somite development; IMP:ZFIN.
DR GO; GO:0055002; P:striated muscle cell development; IMP:ZFIN.
DR GO; GO:0099536; P:synaptic signaling; IBA:GO_Central.
DR CDD; cd16246; EFh_DMD; 1.
DR CDD; cd02334; ZZ_dystrophin; 1.
DR Gene3D; 3.30.60.90; -; 1.
DR Gene3D; 1.10.238.10; EF-hand; 2.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR015153; EF-hand_dom_typ1.
DR InterPro; IPR015154; EF-hand_dom_typ2.
DR InterPro; IPR000433; Znf_ZZ.
DR InterPro; IPR043145; Znf_ZZ_sf.
DR PANTHER; PTHR12268:SF25; DYSTROPHIN; 1.
DR PANTHER; PTHR12268; E3 UBIQUITIN-PROTEIN LIGASE KCMF1; 1.
DR Pfam; PF09068; EF-hand_2; 1.
DR Pfam; PF09069; EF-hand_3; 1.
DR Pfam; PF00569; ZZ; 1.
DR SMART; SM00291; ZnF_ZZ; 1.
DR SUPFAM; SSF47473; EF-hand; 2.
DR SUPFAM; SSF57850; RING/U-box; 1.
DR PROSITE; PS01357; ZF_ZZ_1; 1.
DR PROSITE; PS50135; ZF_ZZ_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil {ECO:0000256|SAM:Coils};
KW Metal-binding {ECO:0000256|ARBA:ARBA00022723};
KW Proteomics identification {ECO:0007829|PeptideAtlas:F1QDK4};
KW Reference proteome {ECO:0000313|Proteomes:UP000000437};
KW Zinc {ECO:0000256|ARBA:ARBA00022833};
KW Zinc-finger {ECO:0000256|ARBA:ARBA00022771, ECO:0000256|PROSITE-
KW ProRule:PRU00228}.
FT DOMAIN 240..296
FT /note="ZZ-type"
FT /evidence="ECO:0000259|PROSITE:PS50135"
FT REGION 451..472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 522..594
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 415..449
FT /evidence="ECO:0000256|SAM:Coils"
FT COILED 488..522
FT /evidence="ECO:0000256|SAM:Coils"
SQ SEQUENCE 594 AA; 67479 MW; C76B6332FA9298F0 CRC64;
MRENLRNHQT QTTCWDHPKM AELYQSLADL NNVRFSAYRT AMKLRRMQKA LCLDLLSMPA
ACEAFEQHNL KQNEQFMDIV QVINCLTSIY DRLEQQHSSL VNVPLCVDMC LNWLLNVYDT
GRAGKIRTLS FKTGIISLCK AHLEDKYRFL FREVASATGF CDQRRLGLLL HDAIQIPRQL
GEVASFGGSN IEPSVRSCFQ FANNKPELEA SVFLDWMRLE PQSMVWLPVL HRVAAAETAK
HQAKCNICKE CPIIGFRYRS LKHFNYDICQ SCFFSGRVAK GHKMQYPMVE YCTPTTSGED
VRDFAKVLKN KFRTKRYFAK HPRMGYLPVQ TILEGDNMET PASSPQLSHD DTHSRIEHYA
SRLAEMENRN GSYVNDNVSP NESMDDEHLL IQHYCQSLNQ GSPLSQPQSP AQILISMETE
EKGELERVLN DLEQENRKLQ AEYDRLKKAH DHKGLSPLPS PPQMLPVSPQ SPRDAELIAE
AKLLRQHKGR LEARMQILED HNKQLESQLT RLRQLLEQTE SKVNGTALSS PSTASPRSDT
SLASLRVAAS QTTETMGDDE LSSPTQDAST GLEDVIEQLN NSFPHSQGGG RLNP
//
