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Database: UniProt
Entry: O42269_DANRE
LinkDB: O42269_DANRE
Original site: O42269_DANRE 
ID   O42269_DANRE            Unreviewed;      3121 AA.
AC   O42269;
DT   01-JAN-1998, integrated into UniProtKB/TrEMBL.
DT   01-NOV-1998, sequence version 3.
DT   24-JAN-2024, entry version 127.
DE   SubName: Full=Huntingtin {ECO:0000313|EMBL:AAC63983.1, ECO:0000313|RefSeq:NP_571093.1};
GN   Name=HD {ECO:0000313|EMBL:AAC63983.1};
GN   Synonyms=hd {ECO:0000313|RefSeq:NP_571093.1,
GN   ECO:0000313|ZFIN:ZDB-GENE-990415-131}, ZHD
GN   {ECO:0000313|RefSeq:NP_571093.1};
GN   OrderedLocusNames=htt {ECO:0000313|RefSeq:NP_571093.1,
GN   ECO:0000313|ZFIN:ZDB-GENE-990415-131};
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|EMBL:AAC63983.1};
RN   [1] {ECO:0000313|EMBL:AAC63983.1, ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=9795179; DOI=10.1016/S0378-1119(98)00342-4;
RA   Karlovich C.A., John R.M., Ramirez L., Stainier D.Y., Myers R.M.;
RT   "Characterization of the Huntington's disease (HD) gene homologue in the
RT   zebrafish Danio rerio.";
RL   Gene 217:117-125(1998).
RN   [2] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=11005800;
RA   Dodd A., Curtis P.M., Williams L.C., Love D.R.;
RT   "Zebrafish: bridging the gap between development and disease.";
RL   Hum. Mol. Genet. 9:2443-2449(2000).
RN   [3] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=15520368; DOI=10.1073/pnas.0407241101;
RA   Song H.D., Sun X.J., Deng M., Zhang G.W., Zhou Y., Wu X.Y., Sheng Y.,
RA   Chen Y., Ruan Z., Jiang C.L., Fan H.Y., Zon L.I., Kanki J.P., Liu T.X.,
RA   Look A.T., Chen Z.;
RT   "Hematopoietic gene expression profile in zebrafish kidney marrow.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:16240-16245(2004).
RN   [4] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=16109975;
RA   Woods I.G., Wilson C., Friedlander B., Chang P., Reyes D.K., Nix R.,
RA   Kelly P.D., Chu F., Postlethwait J.H., Talbot W.S.;
RT   "The zebrafish gene map defines ancestral vertebrate chromosomes.";
RL   Genome Res. 15:1307-1314(2005).
RN   [5] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=17567778;
RA   Lumsden A.L., Henshall T.L., Dayan S., Lardelli M.T., Richards R.I.;
RT   "Huntingtin-deficient zebrafish exhibit defects in iron utilization and
RT   development.";
RL   Hum. Mol. Genet. 16:1905-1920(2007).
RN   [6] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=19797250;
RA   Henshall T.L., Tucker B., Lumsden A.L., Nornes S., Lardelli M.T.,
RA   Richards R.I.;
RT   "Selective neuronal requirement for huntingtin in the developing
RT   zebrafish.";
RL   Hum. Mol. Genet. 18:4830-4842(2009).
RN   [7] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=22466506;
RA   Lo Sardo V., Zuccato C., Gaudenzi G., Vitali B., Ramos C., Tartari M.,
RA   Myre M.A., Walker J.A., Pistocchi A., Conti L., Valenza M., Drung B.,
RA   Schmidt B., Gusella J., Zeitlin S., Cotelli F., Cattaneo E.;
RT   "An evolutionary recent neuroepithelial cell adhesion function of
RT   huntingtin implicates ADAM10-Ncadherin.";
RL   Nat. Neurosci. 15:713-721(2012).
RN   [8] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=23800350;
RA   Conforti P., Zuccato C., Gaudenzi G., Ieraci A., Camnasio S., Buckley N.J.,
RA   Mutti C., Cotelli F., Contini A., Cattaneo E.;
RT   "Binding of the repressor complex REST-mSIN3b by small molecules restores
RT   neuronal gene transcription in Huntington's disease models.";
RL   J. Neurochem. 127:22-35(2013).
RN   [9] {ECO:0000313|Proteomes:UP000000437}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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   [10] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
RX   PubMed=26469318;
RA   Elkon R., Milon B., Morrison L., Shah M., Vijayakumar S., Racherla M.,
RA   Leitch C.C., Silipino L., Hadi S., Weiss-Gayet M., Barras E., Schmid C.D.,
RA   Ait-Lounis A., Barnes A., Song Y., Eisenman D.J., Eliyahu E.,
RA   Frolenkov G.I., Strome S.E., Durand B., Zaghloul N.A., Jones S.M.,
RA   Reith W., Hertzano R.;
RT   "RFX transcription factors are essential for hearing in mice.";
RL   Nat. Commun. 6:8549-8549(2015).
RN   [11] {ECO:0000313|RefSeq:NP_571093.1}
RP   NUCLEOTIDE SEQUENCE.
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   [12] {ECO:0000313|RefSeq:NP_571093.1}
RP   IDENTIFICATION.
RG   RefSeq;
RL   Submitted (SEP-2023) to UniProtKB.
CC   -!- FUNCTION: May play a role in microtubule-mediated transport or vesicle
CC       function. {ECO:0000256|ARBA:ARBA00002907}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000256|ARBA:ARBA00004496}.
CC       Nucleus {ECO:0000256|ARBA:ARBA00004123}.
CC   -!- SIMILARITY: Belongs to the huntingtin family.
CC       {ECO:0000256|ARBA:ARBA00007153}.
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DR   EMBL; AF052602; AAC63983.1; -; mRNA.
DR   RefSeq; NP_571093.1; NM_131018.1.
DR   GeneID; 30214; -.
DR   KEGG; dre:30214; -.
DR   CTD; 3064; -.
DR   ZFIN; ZDB-GENE-990415-131; htt.
DR   OrthoDB; 6903at2759; -.
DR   PhylomeDB; O42269; -.
DR   Proteomes; UP000000437; Chromosome 1.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0090017; P:anterior neural plate formation; IMP:ZFIN.
DR   GO; GO:0051216; P:cartilage development; IMP:ZFIN.
DR   GO; GO:0021954; P:central nervous system neuron development; IMP:ZFIN.
DR   GO; GO:0048589; P:developmental growth; IMP:ZFIN.
DR   GO; GO:0048703; P:embryonic viscerocranium morphogenesis; IMP:ZFIN.
DR   GO; GO:0006879; P:intracellular iron ion homeostasis; IMP:ZFIN.
DR   GO; GO:0001841; P:neural tube formation; IMP:ZFIN.
DR   GO; GO:0048884; P:neuromast development; IMP:ZFIN.
DR   GO; GO:0071698; P:olfactory placode development; IMP:ZFIN.
DR   GO; GO:0031550; P:positive regulation of brain-derived neurotrophic factor receptor signaling pathway; IMP:ZFIN.
DR   GO; GO:2000047; P:regulation of cell-cell adhesion mediated by cadherin; IMP:ZFIN.
DR   Gene3D; 1.25.10.10; Leucine-rich Repeat Variant; 2.
DR   InterPro; IPR011989; ARM-like.
DR   InterPro; IPR016024; ARM-type_fold.
DR   InterPro; IPR048412; Htt_bridge.
DR   InterPro; IPR048413; Htt_C-HEAT_rpt.
DR   InterPro; IPR048411; Htt_N_HEAT_rpt-1.
DR   InterPro; IPR000091; Huntingtin.
DR   InterPro; IPR028426; Huntingtin_fam.
DR   InterPro; IPR024613; Huntingtin_N_HEAT_rpt-2.
DR   PANTHER; PTHR10170:SF10; HUNTINGTIN; 1.
DR   PANTHER; PTHR10170; HUNTINGTON DISEASE PROTEIN; 1.
DR   Pfam; PF20925; Htt_bridge; 1.
DR   Pfam; PF20927; Htt_C-HEAT; 1.
DR   Pfam; PF12372; Htt_N-HEAT; 1.
DR   Pfam; PF20926; Htt_N-HEAT_1; 1.
DR   PRINTS; PR00375; HUNTINGTIN.
DR   SUPFAM; SSF48371; ARM repeat; 3.
PE   1: Evidence at protein level;
KW   Cytoplasm {ECO:0000256|ARBA:ARBA00022490};
KW   Nucleus {ECO:0000256|ARBA:ARBA00023242};
KW   Proteomics identification {ECO:0007829|PeptideAtlas:O42269};
KW   Reference proteome {ECO:0000313|Proteomes:UP000000437}.
FT   REGION          408..529
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          549..571
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1139..1188
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2606..2630
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2906..2926
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        408..455
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        481..524
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   3121 AA;  346669 MW;  3CC884E199D324AC CRC64;
     MATMEKLMKA FESLKSFQQQ QGPLSAEELV QKQKKDLATT KKDRVTHCLT ICENIVAQSL
     RTSPEFQKLL GIAMEMFLLC SDDKESDVRM VADECLNKII KALMDSNLPR LQLELYKEIK
     KNAASRSLRA ALWRFAELAH LVRPQKCRPY LVNLLPCLTR ITKRQEETVQ ETLSSSIPKI
     MAALGHFAND GEIKMLLKAF VANLKSSSPT IRRTAASSAV SVCQHSRRTH YFYTWLLNVL
     LGLVVPVDEE HSSHLILGVL LTLRYLMPLI QQQTPSTSLK GSFGLVRKEA DVTPAPEQLI
     QVYELTLHYT QHWDHNVVTA SLELLQQMFR TPPPELLNVL ITRGKITHTS VFREEMESRA
     RSGSILELIA GGSTCSPLLL RKQKGKLLSG EEEGLEDDPE RAEVTTGSFT ASVGGDSSSE
     APSSSGVSSL GTSDIITEQP RSSQHALQPG DSVDLSASEQ GVGPDTPDEE DEEDMLSRSS
     SGGAGLVSTS GDLVTDANQM SAGAVSSSPP SESSQTTTEG PDSAVTPSDC AELVLDGSES
     QYSGMQIGTL QDEEEEGSAP PPDKPPEPFS QSALALSKPH LLEGKGHNRQ SSDSSVDRFI
     PKEEVLEPAE LDNKPSRIKG DIGHYTDPKE EPLMHCVRLL AASFLLTGQR NGLVPDNEVR
     VSVKALAVSC VGAAAALLPE AFFNLLYLQP LDGQQTEEQQ YISDILQYIE HGDHQIRGAT
     AILCGALIQA IQLKTRYNTE TWLSQIQSVT GSSVTLENFV PLLQRSLKDE SSVTCKMACA
     AVRHCIMALC NGSLSELGLQ LLIDLLTLKN CSYWLVRTEL LETLAEIDFR LISFLERKTE
     KLHKGEHHYT GLLRLQDRVL NDVVLYLLGD EDPRVRHVAA NTIGRLVPRL FFDCDQGQTD
     PVVAIARDQS SVHLQLLMHE TQPPSQFTVS TITRTYRGFN LCQSAPDVTV ENNLSRVITA
     ISHALTSSTS RAMTFGCCEA LCLLSSTFPV CNWSTGWHCG FVSSSVFHLN RSSQYRSRGR
     SFSLSQSGSN EEVRRSLTVG VASMVLSLIS SAWFPLDLSA HQAALLLAGN LLAAVAPKCM
     KSPWAGEEES SPASSKVEEP WPALNDRSLV VMVEQLFSHL LKILNICAHV LDDTPPGPAV
     KASLPSLANT PSLSPIRRKG KEKDMMEAGT TPMSPKKGGE TNTGRAADST ATAAVNKSTT
     LGSFYHLPPY LKLYDALRAT HANYKVTLDL HNPNEKFGGF LRSALDVLSQ LLELATLHDI
     GKCVEEILGY LKSCFSREPT MATVCVQQLL KALFGTNLAS QYEGASSNPC RSQGKALRLG
     SSSVRPGLYH YCFMAPYTHF TQALADASLR NMVQAEQEQD ASGWFDVMQK VSNQLRSSIT
     NVTRHRGDKN AIHNHIRLFE PLVIKALKQY TTSTSVALQR QVLDLLAQLV QLRVNYCLLD
     SDQVFIGFVL KQFEYIEVGQ FRDSEEIVPN IFFFLVLLSY ERYHSKQIIS IPKIIQLCDG
     IMASGRKAVT HAIPALQPIV HDLFVLRGSN KADAGKELET QKEVVVSMLL RLIQHHQVLE
     MFILVLQQCH KENEDKWKRL SRQVADIILP MIGKQQMHLD SHEALGVLNT LFESVAPSSL
     RPVDMLLKSM FITPSTLASV GTVQLWVSGI LAILRVLISQ STEDIILSRI QELSLSPYLL
     SCPTIRRLCD DDVPAPPETL PVAMEDANGE TTRFPPEETF ARFLLQLVGV LLDDIANKQV
     KVDMSEQQHT FYCQQLGTLL MCLIHIFKSG MFRRITAAGS KLLKAEGGEG GDFYTLEGLN
     SLVLQLITTH PSLVLLWCQV LLIINYTNYT WWSEVHQTPR RHSLSSTKLL SPHSSGEEER
     PEGKLTMCNR EIVRRGALIL FCDYVCQNLH DSEHLTWLTV NHVSDLISLS HEPPVQDLIS
     AVHRNSAASG LFIQAIQSRC DNLCTPVMLK KTLQCLEGIH LSQSGALLML YVDKLLNTPF
     RVLARMVDTL ACRRVEMLLA ETLQNSIAQL PLEELDRIQQ YLQTSGLAQR HQRFFSLLDR
     FRATVAEDTT SPVAPITTHP LDGDPPPPPE NVEPNKEWYV TLVKSQCCLR GEGALYETTE
     LLTKLPQSDL NAIMTCKDFN LCLLASCLSV GVQRVCKDHG AVLFDTAQQV TFERLAGVIE
     LLPSPHQPLL PSSKVCPDYW QKLNQVYGEP GFYQTVLSLC GVLSQYLLSL SKLPSSMHIP
     KDRETLITTF STLAIEVVVW RLLQDQLPLS VDMQMSLSCL CLALQQPAVW THFTSHSYLT
     HTCSIIHCIQ LLIHAVAVGP GDQFLRPERK ISEQSEDQVD SSDNQREWHC CEIMAELVEG
     LQTVLTLGHH KNKNIPAFLT PTLRNVIISL ARLPLVNSYT RIPPLVWKLG WSPKLSGEFG
     TALPEIPVEF LQEKDVFREF LYRINTLGWS SRTQFEETWA TLLGVLVTQP ITMDQEEETQ
     QEEDLERTQI NVLAVQAITS LVLSAMTLPT AGNPAVSCPE QQPRNKILKA LDTRFGRKLS
     VIRGMVEREI QAMVSKRDNI ATHFPYQAWD PVPSLSSSTA GTLISHEKLL LQINTEREMG
     NMDYKLGQVS IHSVWLGNNI TPLREEEWGE DEEDEADAPA PASPQLSPIN SRKHRAGVDI
     HSCSQFLLEL YSQWILPGSP SSRKTPVVLI SEVVRSLLAV SDLFTERNQF DMMFSTLTEL
     QKVHPPEDEI LNQYLVPAIC KAAAVLGMDK AIAEPVCRLL ESTLRSTHLP SRIGALHGVL
     YVLECDLLDD TARQLIPTVS EYLLSNLRAI AHCVNLHNQQ HVLVMCAVAF YMMENYPLDV
     GSEFNAGIIQ LCCMILSASE EATPSIIYHC VLRGLERLLL SEQLSRMDAE TLVKLSVDRV
     NMPSPHRAMA ALGLMLTCMY TGVAGEEGKE KGSPGRPADA DPTAPDSESV IVAMERVSVL
     FDRIRKGFPS EARVVARILP QFLDDLFPLQ DVMNKVIGEF LSNQQPYPQF MATVVYKVFQ
     TLHATGQSSM VRDWVLLSLS NFTQRTPVAM AMWSLSCFFV SASTSQWISA LLPHVISRMG
     KSDTVDISLF CLVAMDFYRH QIDEELDRRA FQSVFEMVAS PGSPYYQLLC CLQSIHQDTS
     L
//
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