| Tag | Content |
|---|---|
| UniProt Accession | HD_HUMAN; P42858; |
| Entrez ID | 3064 |
| GenBank Protein ID | |
| GenBank Nucleotide ID | |
| Protein Name | Huntingtin (Huntington disease protein) (HD protein) |
| Gene Name | HTT; HD; IT15 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | May play a role in microtubule-mediated transport or vesicle function. |
| Sequence (Fasta) | MATLEKLMKA FESLKSFQQQ QQQQQQQQQQ QQQQQQQQPP PPPPPPPPPQ LPQPPPQAQP 60 LLPQPQPPPP PPPPPPGPAV AEEPLHRPKK ELSATKKDRV NHCLTICENI VAQSVRNSPE 120 FQKLLGIAME LFLLCSDDAE SDVRMVADEC LNKVIKALMD SNLPRLQLEL YKEIKKNGAP 180 RSLRAALWRF AELAHLVRPQ KCRPYLVNLL PCLTRTSKRP EESVQETLAA AVPKIMASFG 240 NFANDNEIKV LLKAFIANLK SSSPTIRRTA AGSAVSICQH SRRTQYFYSW LLNVLLGLLV 300 PVEDEHSTLL ILGVLLTLRY LVPLLQQQVK DTSLKGSFGV TRKEMEVSPS AEQLVQVYEL 360 TLHHTQHQDH NVVTGALELL QQLFRTPPPE LLQTLTAVGG IGQLTAAKEE SGGRSRSGSI 420 VELIAGGGSS CSPVLSRKQK GKVLLGEEEA LEDDSESRSD VSSSALTASV KDEISGELAA 480 SSGVSTPGSA GHDIITEQPR SQHTLQADSV DLASCDLTSS ATDGDEEDIL SHSSSQVSAV 540 PSDPAMDLND GTQASSPISD SSQTTTEGPD SAVTPSDSSE IVLDGTDNQY LGLQIGQPQD 600 EDEEATGILP DEASEAFRNS SMALQQAHLL KNMSHCRQPS DSSVDKFVLR DEATEPGDQE 660 NKPCRIKGDI GQSTDDDSAP LVHCVRLLSA SFLLTGGKNV LVPDRDVRVS VKALALSCVG 720 AAVALHPESF FSKLYKVPLD TTEYPEEQYV SDILNYIDHG DPQVRGATAI LCGTLICSIL 780 SRSRFHVGDW MGTIRTLTGN TFSLADCIPL LRKTLKDESS VTCKLACTAV RNCVMSLCSS 840 SYSELGLQLI IDVLTLRNSS YWLVRTELLE TLAEIDFRLV SFLEAKAENL HRGAHHYTGL 900 LKLQERVLNN VVIHLLGDED PRVRHVAAAS LIRLVPKLFY KCDQGQADPV VAVARDQSSV 960 YLKLLMHETQ PPSHFSVSTI TRIYRGYNLL PSITDVTMEN NLSRVIAAVS HELITSTTRA 1020 LTFGCCEALC LLSTAFPVCI WSLGWHCGVP PLSASDESRK SCTVGMATMI LTLLSSAWFP 1080 LDLSAHQDAL ILAGNLLAAS APKSLRSSWA SEEEANPAAT KQEEVWPALG DRALVPMVEQ 1140 LFSHLLKVIN ICAHVLDDVA PGPAIKAALP SLTNPPSLSP IRRKGKEKEP GEQASVPLSP 1200 KKGSEASAAS RQSDTSGPVT TSKSSSLGSF YHLPSYLKLH DVLKATHANY KVTLDLQNST 1260 EKFGGFLRSA LDVLSQILEL ATLQDIGKCV EEILGYLKSC FSREPMMATV CVQQLLKTLF 1320 GTNLASQFDG LSSNPSKSQG RAQRLGSSSV RPGLYHYCFM APYTHFTQAL ADASLRNMVQ 1380 AEQENDTSGW FDVLQKVSTQ LKTNLTSVTK NRADKNAIHN HIRLFEPLVI KALKQYTTTT 1440 CVQLQKQVLD LLAQLVQLRV NYCLLDSDQV FIGFVLKQFE YIEVGQFRES EAIIPNIFFF 1500 LVLLSYERYH SKQIIGIPKI IQLCDGIMAS GRKAVTHAIP ALQPIVHDLF VLRGTNKADA 1560 GKELETQKEV VVSMLLRLIQ YHQVLEMFIL VLQQCHKENE DKWKRLSRQI ADIILPMLAK 1620 QQMHIDSHEA LGVLNTLFEI LAPSSLRPVD MLLRSMFVTP NTMASVSTVQ LWISGILAIL 1680 RVLISQSTED IVLSRIQELS FSPYLISCTV INRLRDGDST STLEEHSEGK QIKNLPEETF 1740 SRFLLQLVGI LLEDIVTKQL KVEMSEQQHT FYCQELGTLL MCLIHIFKSG MFRRITAAAT 1800 RLFRSDGCGG SFYTLDSLNL RARSMITTHP ALVLLWCQIL LLVNHTDYRW WAEVQQTPKR 1860 HSLSSTKLLS PQMSGEEEDS DLAAKLGMCN REIVRRGALI LFCDYVCQNL HDSEHLTWLI 1920 VNHIQDLISL SHEPPVQDFI SAVHRNSAAS GLFIQAIQSR CENLSTPTML KKTLQCLEGI 1980 HLSQSGAVLT LYVDRLLCTP FRVLARMVDI LACRRVEMLL AANLQSSMAQ LPMEELNRIQ 2040 EYLQSSGLAQ RHQRLYSLLD RFRLSTMQDS LSPSPPVSSH PLDGDGHVSL ETVSPDKDWY 2100 VHLVKSQCWT RSDSALLEGA ELVNRIPAED MNAFMMNSEF NLSLLAPCLS LGMSEISGGQ 2160 KSALFEAARE VTLARVSGTV QQLPAVHHVF QPELPAEPAA YWSKLNDLFG DAALYQSLPT 2220 LARALAQYLV VVSKLPSHLH LPPEKEKDIV KFVVATLEAL SWHLIHEQIP LSLDLQAGLD 2280 CCCLALQLPG LWSVVSSTEF VTHACSLIYC VHFILEAVAV QPGEQLLSPE RRTNTPKAIS 2340 EEEEEVDPNT QNPKYITAAC EMVAEMVESL QSVLALGHKR NSGVPAFLTP LLRNIIISLA 2400 RLPLVNSYTR VPPLVWKLGW SPKPGGDFGT AFPEIPVEFL QEKEVFKEFI YRINTLGWTS 2460 RTQFEETWAT LLGVLVTQPL VMEQEESPPE EDTERTQINV LAVQAITSLV LSAMTVPVAG 2520 NPAVSCLEQQ PRNKPLKALD TRFGRKLSII RGIVEQEIQA MVSKRENIAT HHLYQAWDPV 2580 PSLSPATTGA LISHEKLLLQ INPERELGSM SYKLGQVSIH SVWLGNSITP LREEEWDEEE 2640 EEEADAPAPS SPPTSPVNSR KHRAGVDIHS CSQFLLELYS RWILPSSSAR RTPAILISEV 2700 VRSLLVVSDL FTERNQFELM YVTLTELRRV HPSEDEILAQ YLVPATCKAA AVLGMDKAVA 2760 EPVSRLLEST LRSSHLPSRV GALHGVLYVL ECDLLDDTAK QLIPVISDYL LSNLKGIAHC 2820 VNIHSQQHVL VMCATAFYLI ENYPLDVGPE FSASIIQMCG VMLSGSEEST PSIIYHCALR 2880 GLERLLLSEQ LSRLDAESLV KLSVDRVNVH SPHRAMAALG LMLTCMYTGK EKVSPGRTSD 2940 PNPAAPDSES VIVAMERVSV LFDRIRKGFP CEARVVARIL PQFLDDFFPP QDIMNKVIGE 3000 FLSNQQPYPQ FMATVVYKVF QTLHSTGQSS MVRDWVMLSL SNFTQRAPVA MATWSLSCFF 3060 VSASTSPWVA AILPHVISRM GKLEQVDVNL FCLVATDFYR HQIEEELDRR AFQSVLEVVA 3120 APGSPYHRLL TCLRNVHKVT TC 3143 |
|
||||||||||||||||||||||||||||||||||||||||||||||
| Database | Annotation |
|---|---|
| CTD (Curated) (count: 4) | MESH:D002105
; Cadmium Poisoning MESH:D006816 ; Huntington Disease MESH:D020149 ; Manganese Poisoning MESH:D009069 ; Movement Disorders |
| DisGeNet (Curated) (count: 36) (view all) | C0006635; Cadmium poisoning
C0008489; Chorea C0011570; Mental Depression C0011581; Depressive disorder C0014544; Epilepsy C0017639; Gliosis |
| HGMD (count: 2) | CE072810; Huntington disease; Repeat variations
CX931116; Huntington disease; Repeat variations |
| GWASdb (count: 24) (view all) | rs3856973; Huntington's disease; Null
rs2285086; Huntington's disease; Null rs10015979; Huntington's disease; Null rs2071655; Huntington's disease; Null rs363082; Type 2 diabetes; type 2 diabetes mellitus rs363082; Huntington's disease; Null |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 80) (view all) | 105 DRVNHCLTICENIVA dbPAF
1104 LAASAPKSLRSSWAS dbPAF 1111 SLRSSWASEEEANPA dbPAF 1120 EEANPAATKQEEVWP dbPAF 114 CENIVAQSVRNSPEF dbPAF 1173 KAALPSLTNPPSLSP dbPAF |
| Acetylation (count: 7) (view all) | 176 ELYKEIKKNGAPRSL PLMD
234 TLAAAVPKIMASFGN PLMD 253 NEIKVLLKAFIANLK PLMD 2564 EIQAMVSKRENIATH PLMD 343 GSFGVTRKEMEVSPS PLMD 438 CSPVLSRKQKGKVLL PLMD |
| Ubiquitination (count: 29) (view all) | 1121 EANPAATKQEEVWPA PLMD
1188 IRRKGKEKEPGEQAS PLMD 1262 DLQNSTEKFGGFLRS PLMD 1337 GLSSNPSKSQGRAQR PLMD 1402 QKVSTQLKTNLTSVT PLMD 1410 TNLTSVTKNRADKNA PLMD |
| Sumoylation (count: 4) | 15 MKAFESLKSFQQQQQ PLMD
6 **MATLEKLMKAFES PLMD 89 EEPLHRPKKELSATK PLMD 9 ATLEKLMKAFESLKS PLMD |