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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