ID H0V9L0_CAVPO Unreviewed; 3109 AA.
AC H0V9L0;
DT 22-FEB-2012, integrated into UniProtKB/TrEMBL.
DT 22-NOV-2017, sequence version 2.
DT 27-MAR-2024, entry version 72.
DE SubName: Full=Huntingtin {ECO:0000313|Ensembl:ENSCPOP00000006507.3};
GN Name=HTT {ECO:0000313|Ensembl:ENSCPOP00000006507.3};
OS Cavia porcellus (Guinea pig).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Hystricomorpha; Caviidae;
OC Cavia.
OX NCBI_TaxID=10141 {ECO:0000313|Ensembl:ENSCPOP00000006507.3, ECO:0000313|Proteomes:UP000005447};
RN [1] {ECO:0000313|Proteomes:UP000005447}
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=2N {ECO:0000313|Proteomes:UP000005447};
RX PubMed=21993624; DOI=10.1038/nature10530;
RA Lindblad-Toh K., Garber M., Zuk O., Lin M.F., Parker B.J., Washietl S.,
RA Kheradpour P., Ernst J., Jordan G., Mauceli E., Ward L.D., Lowe C.B.,
RA Holloway A.K., Clamp M., Gnerre S., Alfoldi J., Beal K., Chang J.,
RA Clawson H., Cuff J., Di Palma F., Fitzgerald S., Flicek P., Guttman M.,
RA Hubisz M.J., Jaffe D.B., Jungreis I., Kent W.J., Kostka D., Lara M.,
RA Martins A.L., Massingham T., Moltke I., Raney B.J., Rasmussen M.D.,
RA Robinson J., Stark A., Vilella A.J., Wen J., Xie X., Zody M.C., Baldwin J.,
RA Bloom T., Chin C.W., Heiman D., Nicol R., Nusbaum C., Young S.,
RA Wilkinson J., Worley K.C., Kovar C.L., Muzny D.M., Gibbs R.A., Cree A.,
RA Dihn H.H., Fowler G., Jhangiani S., Joshi V., Lee S., Lewis L.R.,
RA Nazareth L.V., Okwuonu G., Santibanez J., Warren W.C., Mardis E.R.,
RA Weinstock G.M., Wilson R.K., Delehaunty K., Dooling D., Fronik C.,
RA Fulton L., Fulton B., Graves T., Minx P., Sodergren E., Birney E.,
RA Margulies E.H., Herrero J., Green E.D., Haussler D., Siepel A., Goldman N.,
RA Pollard K.S., Pedersen J.S., Lander E.S., Kellis M.;
RT "A high-resolution map of human evolutionary constraint using 29 mammals.";
RL Nature 478:476-482(2011).
RN [2] {ECO:0000313|Ensembl:ENSCPOP00000006507.3}
RP IDENTIFICATION.
RC STRAIN=2N {ECO:0000313|Ensembl:ENSCPOP00000006507.3};
RG Ensembl;
RL Submitted (NOV-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; AAKN02055220; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR Ensembl; ENSCPOT00000007290.3; ENSCPOP00000006507.3; ENSCPOG00000007218.4.
DR VEuPathDB; HostDB:ENSCPOG00000007218; -.
DR GeneTree; ENSGT00390000015863; -.
DR HOGENOM; CLU_000428_0_0_1; -.
DR TreeFam; TF323608; -.
DR Proteomes; UP000005447; Unassembled WGS sequence.
DR Bgee; ENSCPOG00000007218; Expressed in cerebellum and 12 other cell types or tissues.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
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; 1.
PE 3: Inferred from homology;
KW Cytoplasm {ECO:0000256|ARBA:ARBA00022490};
KW Nucleus {ECO:0000256|ARBA:ARBA00023242};
KW Reference proteome {ECO:0000313|Proteomes:UP000005447}.
FT REGION 9..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 488..589
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 623..645
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1139..1191
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2600..2629
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 23..54
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 502..566
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1173..1191
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 3109 AA; 343527 MW; F7EB36EA166C0FAC CRC64;
MATLEKLMKA FESLKSFQQQ QAPPPQPSQP SPQAPPPQAH PPPPPPPAGL SGPEEPLPRP
KKELSATKKD RVNHCLTICE NIVAQSLRNS PEFQKLLGIA MELFLLCGDD AESDVRMVAD
ECLNKVIKAL MDSNLPRLQL ELYKEIKKNG APRSLRAALW RFAELAHLVR PQKCRPYLVN
LLPCLTRTSK RPEESVQETL AAAVPKIMAS FGNFANDNEI KVLLKAFIAN LKSSSPTVRR
TAAGSAVSIC QHSRRTQYFY SWLLNVLLGL LVPVEEEHPT LLILGVLLTL RYLVPLLQQQ
VKDTSLKGSF GVTQKEMEVS PSAEQLVQVY ELTLHHTQHQ DHNVVTGALE LLQQLFRTPP
PVLLQALTTP GGLAQLSAAQ DEARGRGRSE SIVELLAGGG SCSPGLSRKQ KGKVLLGEEE
ALEDDSESRS DTSSSAFAAS VKGEISGELA AASGVSTPGS VGHDIITEQP RSQHTLQADS
VDLSSCDLTS AATDGDEEDI LSHSSSQISA VPSDAAIDLN DGTQASSPIS DSSQTTTEGP
DSAITPSDSS EIVLDGADSQ YSGLQTGLPE DEDENEAEAD GLPAGTSDAF RNSSLSLQQA
HLLESVGHSQ QPSESSIDKF VSREEAAEPG DQENKPCRVK GDIGQSADDD SAPLIYCVRL
LSASFLLTGE KNVLVPDRDV RVSVKALALS CVGAAVALHP ESFFSKLYKH PLDTTEYPEE
QYVSDVLNYI DHGDPQVRGA TAILCGTLIS SVLSRSRFHV GDWLGTIRML TGNRFSLADC
IPLLRKTLKD ESSVTCKLAC AAVRHCVMSL CSSSYSDLGL QLLVDLLALR DSSYWLVRTE
LLETLAEMDF RLVSFLEAKS ENLHRGAHHY TGLLKLQERV LSNVVISLLG DEDPRVRHVA
AASLVRLVPK LFYKCDQGQA DPVVAVARDQ SSVHLKLLMH ETRPPSHFSV STITRIYRGY
SLLPSITDVT MENNLSRVIA AVSHELITAT TRALTFGCCE ALCLLSAAFP VCVWSLGWHC
GAPPLNISDE SRKSCTVGMA TVILTLLSSA WFPLDISAHQ DALILAGNLL AASAPKSLRS
SWASEEEANP TATRQEEVWP ALGDRTLVPM VEQLFSHLLK VINICAHVLD DVAPGPAIKA
ALPSLTNPPS LSPIRRKGKE KEPGEQASAP LSPKKGSEAS TVSRQSDTSG PVTASKLLSL
GSFYHLPSYL KLHDVLKATH ANYKVTLDLQ NSTEKFGGFL RSALDVLSQI LELATLQDIG
KCVEEILGYL KSCFSREPMM ATLCVQQLLK TLFGTNLASQ FDGLSSNSCK SQGRAQRLGS
SSVRPGLYHY CFMAPYTHFT QALADASLRN MVQTEQEHDN SGWFDVLQKV SSQLKTNLTG
ATKNRTDKNA IHNHIRLFEP LVIKALKQYT TTTSVQLQKQ VLDLLAQLVQ LRVNYCLLDS
DQVFIGFVLK QFEYIEVGQF RESEAIIPNI FFFLVLLSYE RYHSKQIIGI PKIIQLCDGI
MASGRKAVTH AIPALQPIVH DLFVLRGANK ADAGKELETQ KEVVVSMLLR LIQYHQVLEM
FILVLQQCHK ESEDKWKRLS RQVADIILPM LAKQQMHIDS HEALGVLNTL FEILAPSSLR
PVDMLLRSMF VTPDTLASVS TVQLWISGIL AILRVLISQS TEDIVLSRIQ ELSFSPYLIS
CSVINRLRDG DSTSTAEEHN EGKQLKNSPE ETFSRFLLQL VGILLEDIVT KQLKVEMSEQ
QHTFYCQELG TLLMCLIHIF KSGMFRRITA AATRLFTSDA CEGGFYTLES LNARVRSMVP
THPALVLLWC QILLLVNHTD HRWWAEVQQT PKRHSLSCTK SLSPQLSSEK EDSDSTAELG
MCNREIVRRG ALILFCDYVC QNLHDSEHLT WLIINHIQDL ISLSHEPPVQ DFISAVHRNS
AASGLFIQAI QSRCENLSTP TTLKKTLQCL EGIHLSQSGA VLTLYVDRLL GTPFRALSHR
VDTLACRRVE MLLAANLQSS TAQLPVEELN RIQEHLQSSG LAQRHQRLYS LLDRFRLSTV
QDSLSPLPLI TSHPLDGDGH VALETVSPDK DWYIRLVKSQ CWTRSDSALL EGAELVNCLP
AEDMRVFMMS TEFNLSLLAP CLSLSLNEIA AGQKSPLFEV ARGVTLDRMT SIVQQLPAVH
QVFQPFLPTK LTAYWSKLND LFGDATLYQS LTTLARALAQ YLVVVSKVPA YLHLPPEKEK
DMVKFVVMTL EALSWHLIHE QIPLSLDLQA GLDCCCLALQ QPSLWNVVSS PEFVTHACSL
IHCLRFILEA IAVQPGDQLL SPESRMSMQE DEVDADTRNP KYITTACEMV AEMVESLQSV
LALGHKRNSS VPAFLTAVLK NIVVSLARLP LVNSYTRVPP LVWKLGWSPK PGGDFSTVFP
EIPVEFLQEK EVFKEFIYRI NTLGWTSRTQ FEETWATLLG VLVTQPLVME QEESPPEEDT
ERTQIHVLAV QAITSLVLSA MTVPVAGNPA VSCLEQQPRN KPLKALDTRF GRKLSIIRGI
VEQEIQAMVS NRENIATHHS YQAWDPVPSL SPATTGTLIS HDRLLLQINP ERELGNMSYK
LGQVSIHSVW LGNSITPLRE EEWDEEEEEE ADAPVPASPP TSPVSSRKHR AGVDIHSCSQ
FLLELYSRWL LPSSSARRTP VILISEVVRS LLVVSDLFTE RNQFEMMYST LTELRRVHPS
EDEILIQYLV PATCKAAAVL GMDKAVAEPV SRLLESTLRS SHLPSQIGAL HGTLYVLECD
LLDDTAKQLI PVVSDYLLSS LKGAAHCVNV HSQQHVLVMC ATAFYLIENY PLDVGPEFSA
SIIQMCGVML SGSEESTPSI IYHCALRGLE RLLLSEQLSR LDAESLVKLS VDRVNVHSPH
RAMAALGLML TCMYTGKEKA SPGRTSDPNP AAPDSESVIV AMERVSVLFD RIRKGFPCEA
RVVARILPQF LDDFFPPQDV MNKVIGEFLS NQQPYPQFMA TVVYKVFQTL HSAGQSPMVR
DWVMLSLSNF TQRTPVAMAM WSLSCFFVSA STSPWVSAIL PHVISRMGKL EQVDVNLFCL
VATDFYRHQI EEELDRRAFQ SVFEVVAAPG SPYHRLLTCL RNVHKVTTC
//
