HTT
entrez
3064
canonical
uniprot
P42858
canonical
ensembl
ENSG00000197386
resolver
ensp
ENSP00000347184
resolver
enst
ENST00000355072
resolver
genesymbol
HTT
resolver
genesymbol_syn
HD
resolver
genesymbol_syn
IT15
resolver
hgnc
HGNC:4851
resolver
uniprot
Q9UQB7
resolver
uniprot_entry
HD_HUMAN
resolver
uniprot_sec
Q9UQB7
resolver
amino_acid_sequence
MATLEKLMKAFESLKSFQQQQQQQQQQQQQQQQQQQQQPPPPPPPPPPPQLPQPPPQAQPLLPQPQPPPPPPPPPPGPAVAEEPLHRPKKELSATKKDRVNHCLTICENIVAQSVRNSPEFQKLLGIAMELFLLCSDDAESDVRMVADECLNKVIKALMDSNLPRLQLELYKEIKKNGAPRSLRAALWRFAELAHLVRPQKCRPYLVNLLPCLTRTSKRPEESVQETLAAAVPKIMASFGNFANDNEIKVLLKAFIANLKSSSPTIRRTAAGSAVSICQHSRRTQYFYSWLLNVLLGLLVPVEDEHSTLLILGVLLTLRYLVPLLQQQVKDTSLKGSFGVTRKEMEVSPSAEQLVQVYELTLHHTQHQDHNVVTGALELLQQLFRTPPPELLQTLTAVGGIGQLTAAKEESGGRSRSGSIVELIAGGGSSCSPVLSRKQKGKVLLGEEEALEDDSESRSDVSSSALTASVKDEISGELAASSGVSTPGSAGHDIITEQPRSQHTLQADSVDLASCDLTSSATDGDEEDILSHSSSQVSAVPSDPAMDLNDGTQASSPISDSSQTTTEGPDSAVTPSDSSEIVLDGTDNQYLGLQIGQPQDEDEEATGILPDEASEAFRNSSMALQQAHLLKNMSHCRQPSDSSVDKFVLRDEATEPGDQENKPCRIKGDIGQSTDDDSAPLVHCVRLLSASFLLTGGKNVLVPDRDVRVSVKALALSCVGAAVALHPESFFSKLYKVPLDTTEYPEEQYVSDILNYIDHGDPQVRGATAILCGTLICSILSRSRFHVGDWMGTIRTLTGNTFSLADCIPLLRKTLKDESSVTCKLACTAVRNCVMSLCSSSYSELGLQLIIDVLTLRNSSYWLVRTELLETLAEIDFRLVSFLEAKAENLHRGAHHYTGLLKLQERVLNNVVIHLLGDEDPRVRHVAAASLIRLVPKLFYKCDQGQADPVVAVARDQSSVYLKLLMHETQPPSHFSVSTITRIYRGYNLLPSITDVTMENNLSRVIAAVSHELITSTTRALTFGCCEALCLLSTAFPVCIWSLGWHCGVPPLSASDESRKSCTVGMATMILTLLSSAWFPLDLSAHQDALILAGNLLAASAPKSLRSSWASEEEANPAATKQEEVWPALGDRALVPMVEQLFSHLLKVINICAHVLDDVAPGPAIKAALPSLTNPPSLSPIRRKGKEKEPGEQASVPLSPKKGSEASAASRQSDTSGPVTTSKSSSLGSFYHLPSYLKLHDVLKATHANYKVTLDLQNSTEKFGGFLRSALDVLSQILELATLQDIGKCVEEILGYLKSCFSREPMMATVCVQQLLKTLFGTNLASQFDGLSSNPSKSQGRAQRLGSSSVRPGLYHYCFMAPYTHFTQALADASLRNMVQAEQENDTSGWFDVLQKVSTQLKTNLTSVTKNRADKNAIHNHIRLFEPLVIKALKQYTTTTCVQLQKQVLDLLAQLVQLRVNYCLLDSDQVFIGFVLKQFEYIEVGQFRESEAIIPNIFFFLVLLSYERYHSKQIIGIPKIIQLCDGIMASGRKAVTHAIPALQPIVHDLFVLRGTNKADAGKELETQKEVVVSMLLRLIQYHQVLEMFILVLQQCHKENEDKWKRLSRQIADIILPMLAKQQMHIDSHEALGVLNTLFEILAPSSLRPVDMLLRSMFVTPNTMASVSTVQLWISGILAILRVLISQSTEDIVLSRIQELSFSPYLISCTVINRLRDGDSTSTLEEHSEGKQIKNLPEETFSRFLLQLVGILLEDIVTKQLKVEMSEQQHTFYCQELGTLLMCLIHIFKSGMFRRITAAATRLFRSDGCGGSFYTLDSLNLRARSMITTHPALVLLWCQILLLVNHTDYRWWAEVQQTPKRHSLSSTKLLSPQMSGEEEDSDLAAKLGMCNREIVRRGALILFCDYVCQNLHDSEHLTWLIVNHIQDLISLSHEPPVQDFISAVHRNSAASGLFIQAIQSRCENLSTPTMLKKTLQCLEGIHLSQSGAVLTLYVDRLLCTPFRVLARMVDILACRRVEMLLAANLQSSMAQLPMEELNRIQEYLQSSGLAQRHQRLYSLLDRFRLSTMQDSLSPSPPVSSHPLDGDGHVSLETVSPDKDWYVHLVKSQCWTRSDSALLEGAELVNRIPAEDMNAFMMNSEFNLSLLAPCLSLGMSEISGGQKSALFEAAREVTLARVSGTVQQLPAVHHVFQPELPAEPAAYWSKLNDLFGDAALYQSLPTLARALAQYLVVVSKLPSHLHLPPEKEKDIVKFVVATLEALSWHLIHEQIPLSLDLQAGLDCCCLALQLPGLWSVVSSTEFVTHACSLIYCVHFILEAVAVQPGEQLLSPERRTNTPKAISEEEEEVDPNTQNPKYITAACEMVAEMVESLQSVLALGHKRNSGVPAFLTPLLRNIIISLARLPLVNSYTRVPPLVWKLGWSPKPGGDFGTAFPEIPVEFLQEKEVFKEFIYRINTLGWTSRTQFEETWATLLGVLVTQPLVMEQEESPPEEDTERTQINVLAVQAITSLVLSAMTVPVAGNPAVSCLEQQPRNKPLKALDTRFGRKLSIIRGIVEQEIQAMVSKRENIATHHLYQAWDPVPSLSPATTGALISHEKLLLQINPERELGSMSYKLGQVSIHSVWLGNSITPLREEEWDEEEEEEADAPAPSSPPTSPVNSRKHRAGVDIHSCSQFLLELYSRWILPSSSARRTPAILISEVVRSLLVVSDLFTERNQFELMYVTLTELRRVHPSEDEILAQYLVPATCKAAAVLGMDKAVAEPVSRLLESTLRSSHLPSRVGALHGVLYVLECDLLDDTAKQLIPVISDYLLSNLKGIAHCVNIHSQQHVLVMCATAFYLIENYPLDVGPEFSASIIQMCGVMLSGSEESTPSIIYHCALRGLERLLLSEQLSRLDAESLVKLSVDRVNVHSPHRAMAALGLMLTCMYTGKEKVSPGRTSDPNPAAPDSESVIVAMERVSVLFDRIRKGFPCEARVVARILPQFLDDFFPPQDIMNKVIGEFLSNQQPYPQFMATVVYKVFQTLHSTGQSSMVRDWVMLSLSNFTQRAPVAMATWSLSCFFVSASTSPWVAAILPHVISRMGKLEQVDVNLFCLVATDFYRHQIEEELDRRAFQSVLEVVAAPGSPYHRLLTCLRNVHKVTTC
uniprot
proteins
disease_involvement
DISEASE: Huntington disease (HD) [MIM:143100]: A neurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life. Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen. {ECO:0000269|PubMed:8458085}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Lopes-Maciel-Rodan syndrome (LOMARS) [MIM:617435]: An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures. {ECO:0000269|PubMed:26740508, ECO:0000269|PubMed:27329733}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.; FUNCTION: [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles. {ECO:0000269|PubMed:24459296}.
uniprot
proteins
mass_dalton
347603
uniprot
proteins
mutagenesis
MUTAGEN 495; /note="I->A: Inhibits interaction with ZDHHC13 and ZDHHC17."; /evidence="ECO:0000269|PubMed:26198635"; MUTAGEN 498..499; /note="QP->AA: Abolishes interaction with ZDHHC17."; /evidence="ECO:0000269|PubMed:28757145"; MUTAGEN 498; /note="Q->A: Inhibits interaction with ZDHHC13 and ZDHHC17."; /evidence="ECO:0000269|PubMed:26198635"; MUTAGEN 499; /note="P->A: Inhibits interaction with ZDHHC13 and ZDHHC17."; /evidence="ECO:0000269|PubMed:26198635"; MUTAGEN 511; /note="D->A: Loss of proteolytic cleavage."; /evidence="ECO:0000269|PubMed:9535906"; MUTAGEN 528; /note="D->A: No effect on proteolytic cleavage."; /evidence="ECO:0000269|PubMed:9535906"; MUTAGEN 550; /note="D->E: Loss of proteolytic cleavage. Loss of myristoylation."; /evidence="ECO:0000269|PubMed:29802276"; MUTAGEN 551; /note="G->A: Loss of myristoylation."; /evidence="ECO:0000269|PubMed:24459296, ECO:0000269|PubMed:29802276"; MUTAGEN 551; /note="G->S: Loss of myristoylation."; /evidence="ECO:0000269|PubMed:29802276"; MUTAGEN 584; /note="D->A: Loss of proteolytic cleavage."; /evidence="ECO:0000269|PubMed:10770929
uniprot
proteins
post_translational_modification
PTM: [Huntingtin]: Cleaved by caspases downstream of the polyglutamine stretch (PubMed:10770929, PubMed:29802276, PubMed:8696339, PubMed:9535906). The resulting N-terminal fragments are cytotoxic and provokes apoptosis (PubMed:10770929). {ECO:0000269|PubMed:10770929, ECO:0000269|PubMed:29802276, ECO:0000269|PubMed:8696339, ECO:0000269|PubMed:9535906}.; PTM: [Huntingtin]: Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation. {ECO:0000269|PubMed:17141218}.; PTM: [Huntingtin]: Phosphorylation at Ser-1179 and Ser-1199 by CDK5 in response to DNA damage in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity. {ECO:0000269|PubMed:17611284}.; PTM: [Huntingtin, myristoylated N-terminal fragment]: Myristoylated at Gly-551, following proteolytic cleavage at Asp-550. {ECO:0000269|PubMed:24459296, ECO:0000269|PubMed:29802276}.
uniprot
proteins
protein_family
Huntingtin family
uniprot
proteins
pubmed
10332029
uniprot
proteins
pubmed
10770929
uniprot
proteins
pubmed
10958656
uniprot
proteins
pubmed
11013077
uniprot
proteins
pubmed
11461154
uniprot
proteins
pubmed
12783847
uniprot
proteins
pubmed
15654337
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16391387
uniprot
proteins
pubmed
16476778
uniprot
proteins
pubmed
17141218
uniprot
proteins
pubmed
17611284
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18573880
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19748341
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21685499
uniprot
proteins
pubmed
21968397
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23370273
uniprot
proteins
pubmed
23931318
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24459296
uniprot
proteins
pubmed
25861763
uniprot
proteins
pubmed
26198635
uniprot
proteins
pubmed
26740508
uniprot
proteins
pubmed
27329733
uniprot
proteins
pubmed
28757145
uniprot
proteins
pubmed
28882895
uniprot
proteins
pubmed
29466333
uniprot
proteins
pubmed
29802276
uniprot
proteins
pubmed
7647777
uniprot
proteins
pubmed
7759106
uniprot
proteins
pubmed
7903579
uniprot
proteins
pubmed
8197474
uniprot
proteins
pubmed
8458085
uniprot
proteins
pubmed
8696339
uniprot
proteins
pubmed
9535906
uniprot
proteins
pubmed
9700202
uniprot
proteins
sequence_length
3142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Huntingtin]: Cytoplasm {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16476778, ECO:0000269|PubMed:7647777}. Nucleus {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16391387}. Early endosome {ECO:0000269|PubMed:16476778}. Note=The mutant Huntingtin protein colocalizes with AKAP8L in the nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent manner (PubMed:15654337). Recruits onto early endosomes in a Rab5- and HAP40-dependent fashion (PubMed:16476778). {ECO:0000269|PubMed:15654337, ECO:0000269|PubMed:16476778}.; SUBCELLULAR LOCATION: [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:24459296}.
uniprot
proteins