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UniProtKB - P42858 (HD_HUMAN)

Protein

Huntingtin

Gene

HTT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May play a role in microtubule-mediated transport or vesicle function.

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processApoptosis

Enzyme and pathway databases

SignaLinkiP42858
SIGNORiP42858

Protein family/group databases

MoonDBiP42858 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Huntingtin
Alternative name(s):
Huntington disease protein
Short name:
HD protein
Gene namesi
Name:HTT
Synonyms:HD, IT15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000197386.10
HGNCiHGNC:4851 HTT
MIMi613004 gene
neXtProtiNX_P42858

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Huntington disease (HD)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:143100
Lopes-Maciel-Rodan syndrome (LOMARS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617435
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079026703P → L in LOMARS. 1 PublicationCorresponds to variant dbSNP:rs768047421Ensembl.1
Natural variantiVAR_0790272717F → L in LOMARS. 1 PublicationCorresponds to variant dbSNP:rs1085307052Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi495I → A: Inhibits interaction with ZDHHC13 and ZDHHC17. 1 Publication1
Mutagenesisi498 – 499QP → AA: Abolishes interaction with ZDHHC17. 1 Publication2
Mutagenesisi498Q → A: Inhibits interaction with ZDHHC13 and ZDHHC17. 1 Publication1
Mutagenesisi499P → A: Inhibits interaction with ZDHHC13 and ZDHHC17. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi3064
GeneReviewsiHTT
MalaCardsiHTT
MIMi143100 phenotype
617435 phenotype
OpenTargetsiENSG00000197386
Orphaneti399 Huntington disease
248111 Juvenile Huntington disease
PharmGKBiPA164741646

Chemistry databases

ChEMBLiCHEMBL5514

Polymorphism and mutation databases

BioMutaiHTT
DMDMi296434520

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000839421 – 3142HuntingtinAdd BLAST3142

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9N6-acetyllysine1 Publication1
Modified residuei176N6-acetyllysine1 Publication1
Modified residuei234N6-acetyllysine1 Publication1
Modified residuei343N6-acetyllysine1 Publication1
Modified residuei411PhosphoserineCombined sources1
Modified residuei417PhosphoserineBy similarity1
Modified residuei419PhosphoserineBy similarity1
Modified residuei432PhosphoserineCombined sources1
Modified residuei442N6-acetyllysine1 Publication1
Modified residuei640PhosphoserineCombined sources1
Modified residuei643PhosphoserineCombined sources1
Modified residuei1179Phosphoserine; by CDK51 Publication1
Modified residuei1199Phosphoserine; by CDK5Combined sources1 Publication1
Modified residuei1870PhosphoserineCombined sources1
Modified residuei1874PhosphoserineCombined sources1

Post-translational modificationi

Cleaved by apopain downstream of the polyglutamine stretch. The resulting N-terminal fragment is cytotoxic and provokes apoptosis.
Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation.1 Publication
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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei511 – 512Cleavage; by apopainSequence analysis2
Sitei528 – 529Cleavage; by apopainSequence analysis2
Sitei550 – 551Cleavage; by apopainSequence analysis2
Sitei587 – 588Cleavage; by apopainSequence analysis2

Keywords - PTMi

Acetylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP42858
MaxQBiP42858
PaxDbiP42858
PeptideAtlasiP42858
PRIDEiP42858
ProteomicsDBi55561

PTM databases

iPTMnetiP42858
PhosphoSitePlusiP42858
SwissPalmiP42858

Expressioni

Tissue specificityi

Expressed in the brain cortex (at protein level). Widely expressed with the highest level of expression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation.1 Publication

Gene expression databases

BgeeiENSG00000197386 Expressed in 167 organ(s), highest expression level in cerebellum
CleanExiHS_HTT
ExpressionAtlasiP42858 baseline and differential
GenevisibleiP42858 HS

Organism-specific databases

HPAiCAB002756
HPA026114

Interactioni

Subunit structurei

Interacts with PFN1 (PubMed:18573880). Interacts through its N-terminus with PRPF40A (PubMed:9700202). Interacts with PQBP1 (PubMed:10332029). Interacts with SETD2 (PubMed:9700202, PubMed:10958656, PubMed:11461154). Interacts with SH3GLB1 (By similarity). Interacts with SYVN (PubMed:17141218). Interacts with TPR; the interaction is inhibited by forms of Huntingtin with expanded polyglutamine stretch (PubMed:15654337). Interacts with ZDHHC13 (via ANK repeats) (PubMed:26198635). Interacts with ZDHHC17 (via ANK repeats) (PubMed:26198635, PubMed:28882895, PubMed:28757145). Interacts with F8A1/F8A2/F8A3 (PubMed:29466333).By similarity11 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself9EBI-466029,EBI-466029
ARHGAP24Q8N2643EBI-466029,EBI-988764
BAZ1AQ9NRL24EBI-466029,EBI-927511
BECN1Q144572EBI-466029,EBI-949378
CEP126Q9P2H02EBI-466029,EBI-473176
CHD3Q128733EBI-466029,EBI-523590
COPB1P536183EBI-466029,EBI-359063
CREBBPQ927932EBI-466029,EBI-81215
CRMP1Q141942EBI-466029,EBI-473101
CTNNB1P352225EBI-466029,EBI-491549
DCTN2Q135616EBI-466029,EBI-715074
DNAJC11Q9NVH13EBI-466029,EBI-1055336
DNAJC21Q5F1R66EBI-466029,EBI-2654581
DNAJC4Q9NNZ33EBI-466029,EBI-4397791
DNALI1O146453EBI-466029,EBI-395638
DNM1Q051933EBI-466029,EBI-713135
DYNC1H1Q142045EBI-466029,EBI-356015
Dync1i1O884852EBI-466029,EBI-492834From Mus musculus.
ECH1Q130112EBI-466029,EBI-711968
ELP1O951634EBI-466029,EBI-347559
ERCC6LQ2NKX82EBI-466029,EBI-1042535
EVLQ9UI08-22EBI-466029,EBI-6448852
FEZ1Q996895EBI-466029,EBI-396435
FNBP4Q8N3X16EBI-466029,EBI-310600
FTLP027922EBI-466029,EBI-713279
GIT1Q9Y2X710EBI-466029,EBI-466061
GOLPH3LQ9H4A52EBI-466029,EBI-4403434
GTF3C3Q9Y5Q93EBI-466029,EBI-1054873
HAP1P54257-28EBI-466029,EBI-9392340
Hap1P542563EBI-466029,EBI-994539From Rattus norvegicus.
HEY2Q9UBP52EBI-466029,EBI-750630
HIP1O002914EBI-466029,EBI-473886
HIST1H3DP684312EBI-466029,EBI-79722
HMG20AQ9NP662EBI-466029,EBI-740641
HMGB1P0942913EBI-466029,EBI-389432
Itpr1P299942EBI-466029,EBI-8614640From Rattus norvegicus.
JAKMIP1Q96N164EBI-466029,EBI-2680803
LDOC1O957515EBI-466029,EBI-740738
MAGEB6Q8N7X42EBI-466029,EBI-6447163
MBD1Q9UIS92EBI-466029,EBI-867196
MED15Q96RN53EBI-466029,EBI-394506
MED31Q9Y3C73EBI-466029,EBI-394707
MKRN2Q9H0003EBI-466029,EBI-2341005
MRE11P499595EBI-466029,EBI-396513
MRFAP1L1Q96HT83EBI-466029,EBI-748896
MTSS1O433123EBI-466029,EBI-473954
NBR1Q145963EBI-466029,EBI-742698
NCOR1O753763EBI-466029,EBI-347233
NME4O007462EBI-466029,EBI-744871
NUP58Q9BVL24EBI-466029,EBI-2811583
OPTNQ96CV97EBI-466029,EBI-748974
OSTF1Q928825EBI-466029,EBI-1051152
P4HA1P136745EBI-466029,EBI-1237386
PACSIN1Q9BY113EBI-466029,EBI-721769
PAK2Q131772EBI-466029,EBI-1045887
PFN2P350804EBI-466029,EBI-473138
PIAS4Q8N2W93EBI-466029,EBI-473160
PIBF1Q8WXW33EBI-466029,EBI-2558770
PIK3R1P279867EBI-466029,EBI-79464
PIK3R2O004596EBI-466029,EBI-346930
PIK3R3Q925696EBI-466029,EBI-79893
PKMP146183EBI-466029,EBI-353408
PPARGP372314EBI-466029,EBI-781384
PRPF40AO7540015EBI-466029,EBI-473291
RNF20Q5VTR23EBI-466029,EBI-2372238
RNF40O751503EBI-466029,EBI-744408
RPL4P365782EBI-466029,EBI-348313
SETD2Q9BYW24EBI-466029,EBI-945869
SH3GL3Q999639EBI-466029,EBI-473910
SNCAP378404EBI-466029,EBI-985879
SORBS1Q9BX664EBI-466029,EBI-433642
SQSTM1Q135018EBI-466029,EBI-307104
SRGAP1Q7Z6B74EBI-466029,EBI-2481729
SRGAP2O750443EBI-466029,EBI-1051034
SRGAP3O432954EBI-466029,EBI-368166
SRRTQ9BXP53EBI-466029,EBI-712721
TACC1O754104EBI-466029,EBI-624237
TANKQ928443EBI-466029,EBI-356349
TCERG1O147769EBI-466029,EBI-473271
TP53P046374EBI-466029,EBI-366083
TRAFD1O145455EBI-466029,EBI-1396921
UBAC1Q9BSL15EBI-466029,EBI-749370
UBE2KP610863EBI-466029,EBI-473850
ULK1O753858EBI-466029,EBI-908831
USP9XQ930088EBI-466029,EBI-302524
WACQ9BTA95EBI-466029,EBI-749118
WBP4O755543EBI-466029,EBI-7251981
WDFY3Q8IZQ110EBI-466029,EBI-1569256
XAGE3Q8WTP93EBI-466029,EBI-6448284
XRCC6P129563EBI-466029,EBI-353208
ZDHHC17Q8IUH512EBI-466029,EBI-524753
ZFC3H1G3V1X12EBI-466029,EBI-6448783
ZFYVE19Q96K213EBI-466029,EBI-6448240
ZMAT2Q96NC02EBI-466029,EBI-2682299

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi109314, 232 interactors
CORUMiP42858
DIPiDIP-32492N
ELMiP42858
IntActiP42858, 362 interactors
MINTiP42858
STRINGi9606.ENSP00000347184

Chemistry databases

BindingDBiP42858

Structurei

Secondary structure

13142
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP42858
SMRiP42858
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP42858

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati204 – 241HEAT 1Add BLAST38
Repeati246 – 283HEAT 2Add BLAST38
Repeati316 – 360HEAT 3Add BLAST45
Repeati802 – 839HEAT 4Add BLAST38
Repeati902 – 940HEAT 5Add BLAST39

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni3 – 13Sufficient for interaction with TPR1 PublicationAdd BLAST11
Regioni491 – 502Interaction with ZDHHC171 PublicationAdd BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi2395 – 2404Nuclear export signalBy similarity10

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi18 – 38Poly-GlnAdd BLAST21
Compositional biasi39 – 49Poly-ProAdd BLAST11
Compositional biasi63 – 78Poly-ProAdd BLAST16
Compositional biasi1437 – 1440Poly-Thr4
Compositional biasi2341 – 2345Poly-Glu5
Compositional biasi2638 – 2643Poly-Glu6

Domaini

The N-terminal Gln-rich and Pro-rich domain has great conformational flexibility and is likely to exist in a fluctuating equilibrium of alpha-helical, random coil, and extended conformations.1 Publication

Sequence similaritiesi

Belongs to the huntingtin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IDZV Eukaryota
ENOG410XSEC LUCA
GeneTreeiENSGT00390000015863
HOGENOMiHOG000082472
HOVERGENiHBG005953
InParanoidiP42858
KOiK04533
OMAiWLIVNHV
OrthoDBiEOG091G004G
PhylomeDBiP42858
TreeFamiTF323608

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000091 Huntingtin
IPR028426 Huntingtin_fam
IPR024613 Huntingtin_middle-repeat
PANTHERiPTHR10170 PTHR10170, 1 hit
PfamiView protein in Pfam
PF12372 DUF3652, 1 hit
PRINTSiPR00375 HUNTINGTIN
SUPFAMiSSF48371 SSF48371, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P42858-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATLEKLMKA FESLKSFQQQ QQQQQQQQQQ QQQQQQQQPP PPPPPPPPPQ 
        60         70         80         90        100
LPQPPPQAQP LLPQPQPPPP PPPPPPGPAV AEEPLHRPKK ELSATKKDRV 
       110        120        130        140        150
NHCLTICENI VAQSVRNSPE FQKLLGIAME LFLLCSDDAE SDVRMVADEC 
       160        170        180        190        200
LNKVIKALMD SNLPRLQLEL YKEIKKNGAP RSLRAALWRF AELAHLVRPQ 
       210        220        230        240        250
KCRPYLVNLL PCLTRTSKRP EESVQETLAA AVPKIMASFG NFANDNEIKV 
       260        270        280        290        300
LLKAFIANLK SSSPTIRRTA AGSAVSICQH SRRTQYFYSW LLNVLLGLLV 
       310        320        330        340        350
PVEDEHSTLL ILGVLLTLRY LVPLLQQQVK DTSLKGSFGV TRKEMEVSPS 
       360        370        380        390        400
AEQLVQVYEL TLHHTQHQDH NVVTGALELL QQLFRTPPPE LLQTLTAVGG 
       410        420        430        440        450
IGQLTAAKEE SGGRSRSGSI VELIAGGGSS CSPVLSRKQK GKVLLGEEEA 
       460        470        480        490        500
LEDDSESRSD VSSSALTASV KDEISGELAA SSGVSTPGSA GHDIITEQPR 
       510        520        530        540        550
SQHTLQADSV DLASCDLTSS ATDGDEEDIL SHSSSQVSAV PSDPAMDLND 
       560        570        580        590        600
GTQASSPISD SSQTTTEGPD SAVTPSDSSE IVLDGTDNQY LGLQIGQPQD 
       610        620        630        640        650
EDEEATGILP DEASEAFRNS SMALQQAHLL KNMSHCRQPS DSSVDKFVLR 
       660        670        680        690        700
DEATEPGDQE NKPCRIKGDI GQSTDDDSAP LVHCVRLLSA SFLLTGGKNV 
       710        720        730        740        750
LVPDRDVRVS VKALALSCVG AAVALHPESF FSKLYKVPLD TTEYPEEQYV 
       760        770        780        790        800
SDILNYIDHG DPQVRGATAI LCGTLICSIL SRSRFHVGDW MGTIRTLTGN 
       810        820        830        840        850
TFSLADCIPL LRKTLKDESS VTCKLACTAV RNCVMSLCSS SYSELGLQLI 
       860        870        880        890        900
IDVLTLRNSS YWLVRTELLE TLAEIDFRLV SFLEAKAENL HRGAHHYTGL 
       910        920        930        940        950
LKLQERVLNN VVIHLLGDED PRVRHVAAAS LIRLVPKLFY KCDQGQADPV 
       960        970        980        990       1000
VAVARDQSSV YLKLLMHETQ PPSHFSVSTI TRIYRGYNLL PSITDVTMEN 
      1010       1020       1030       1040       1050
NLSRVIAAVS HELITSTTRA LTFGCCEALC LLSTAFPVCI WSLGWHCGVP 
      1060       1070       1080       1090       1100
PLSASDESRK SCTVGMATMI LTLLSSAWFP LDLSAHQDAL ILAGNLLAAS 
      1110       1120       1130       1140       1150
APKSLRSSWA SEEEANPAAT KQEEVWPALG DRALVPMVEQ LFSHLLKVIN 
      1160       1170       1180       1190       1200
ICAHVLDDVA PGPAIKAALP SLTNPPSLSP IRRKGKEKEP GEQASVPLSP 
      1210       1220       1230       1240       1250
KKGSEASAAS RQSDTSGPVT TSKSSSLGSF YHLPSYLKLH DVLKATHANY 
      1260       1270       1280       1290       1300
KVTLDLQNST EKFGGFLRSA LDVLSQILEL ATLQDIGKCV EEILGYLKSC 
      1310       1320       1330       1340       1350
FSREPMMATV CVQQLLKTLF GTNLASQFDG LSSNPSKSQG RAQRLGSSSV 
      1360       1370       1380       1390       1400
RPGLYHYCFM APYTHFTQAL ADASLRNMVQ AEQENDTSGW FDVLQKVSTQ 
      1410       1420       1430       1440       1450
LKTNLTSVTK NRADKNAIHN HIRLFEPLVI KALKQYTTTT CVQLQKQVLD 
      1460       1470       1480       1490       1500
LLAQLVQLRV NYCLLDSDQV FIGFVLKQFE YIEVGQFRES EAIIPNIFFF 
      1510       1520       1530       1540       1550
LVLLSYERYH SKQIIGIPKI IQLCDGIMAS GRKAVTHAIP ALQPIVHDLF 
      1560       1570       1580       1590       1600
VLRGTNKADA GKELETQKEV VVSMLLRLIQ YHQVLEMFIL VLQQCHKENE 
      1610       1620       1630       1640       1650
DKWKRLSRQI ADIILPMLAK QQMHIDSHEA LGVLNTLFEI LAPSSLRPVD 
      1660       1670       1680       1690       1700
MLLRSMFVTP NTMASVSTVQ LWISGILAIL RVLISQSTED IVLSRIQELS 
      1710       1720       1730       1740       1750
FSPYLISCTV INRLRDGDST STLEEHSEGK QIKNLPEETF SRFLLQLVGI 
      1760       1770       1780       1790       1800
LLEDIVTKQL KVEMSEQQHT FYCQELGTLL MCLIHIFKSG MFRRITAAAT 
      1810       1820       1830       1840       1850
RLFRSDGCGG SFYTLDSLNL RARSMITTHP ALVLLWCQIL LLVNHTDYRW 
      1860       1870       1880       1890       1900
WAEVQQTPKR HSLSSTKLLS PQMSGEEEDS DLAAKLGMCN REIVRRGALI 
      1910       1920       1930       1940       1950
LFCDYVCQNL HDSEHLTWLI VNHIQDLISL SHEPPVQDFI SAVHRNSAAS 
      1960       1970       1980       1990       2000
GLFIQAIQSR CENLSTPTML KKTLQCLEGI HLSQSGAVLT LYVDRLLCTP 
      2010       2020       2030       2040       2050
FRVLARMVDI LACRRVEMLL AANLQSSMAQ LPMEELNRIQ EYLQSSGLAQ 
      2060       2070       2080       2090       2100
RHQRLYSLLD RFRLSTMQDS LSPSPPVSSH PLDGDGHVSL ETVSPDKDWY 
      2110       2120       2130       2140       2150
VHLVKSQCWT RSDSALLEGA ELVNRIPAED MNAFMMNSEF NLSLLAPCLS 
      2160       2170       2180       2190       2200
LGMSEISGGQ KSALFEAARE VTLARVSGTV QQLPAVHHVF QPELPAEPAA 
      2210       2220       2230       2240       2250
YWSKLNDLFG DAALYQSLPT LARALAQYLV VVSKLPSHLH LPPEKEKDIV 
      2260       2270       2280       2290       2300
KFVVATLEAL SWHLIHEQIP LSLDLQAGLD CCCLALQLPG LWSVVSSTEF 
      2310       2320       2330       2340       2350
VTHACSLIYC VHFILEAVAV QPGEQLLSPE RRTNTPKAIS EEEEEVDPNT 
      2360       2370       2380       2390       2400
QNPKYITAAC EMVAEMVESL QSVLALGHKR NSGVPAFLTP LLRNIIISLA 
      2410       2420       2430       2440       2450
RLPLVNSYTR VPPLVWKLGW SPKPGGDFGT AFPEIPVEFL QEKEVFKEFI 
      2460       2470       2480       2490       2500
YRINTLGWTS RTQFEETWAT LLGVLVTQPL VMEQEESPPE EDTERTQINV 
      2510       2520       2530       2540       2550
LAVQAITSLV LSAMTVPVAG NPAVSCLEQQ PRNKPLKALD TRFGRKLSII 
      2560       2570       2580       2590       2600
RGIVEQEIQA MVSKRENIAT HHLYQAWDPV PSLSPATTGA LISHEKLLLQ 
      2610       2620       2630       2640       2650
INPERELGSM SYKLGQVSIH SVWLGNSITP LREEEWDEEE EEEADAPAPS 
      2660       2670       2680       2690       2700
SPPTSPVNSR KHRAGVDIHS CSQFLLELYS RWILPSSSAR RTPAILISEV 
      2710       2720       2730       2740       2750
VRSLLVVSDL FTERNQFELM YVTLTELRRV HPSEDEILAQ YLVPATCKAA 
      2760       2770       2780       2790       2800
AVLGMDKAVA EPVSRLLEST LRSSHLPSRV GALHGVLYVL ECDLLDDTAK 
      2810       2820       2830       2840       2850
QLIPVISDYL LSNLKGIAHC VNIHSQQHVL VMCATAFYLI ENYPLDVGPE 
      2860       2870       2880       2890       2900
FSASIIQMCG VMLSGSEEST PSIIYHCALR GLERLLLSEQ LSRLDAESLV 
      2910       2920       2930       2940       2950
KLSVDRVNVH SPHRAMAALG LMLTCMYTGK EKVSPGRTSD PNPAAPDSES 
      2960       2970       2980       2990       3000
VIVAMERVSV LFDRIRKGFP CEARVVARIL PQFLDDFFPP QDIMNKVIGE 
      3010       3020       3030       3040       3050
FLSNQQPYPQ FMATVVYKVF QTLHSTGQSS MVRDWVMLSL SNFTQRAPVA 
      3060       3070       3080       3090       3100
MATWSLSCFF VSASTSPWVA AILPHVISRM GKLEQVDVNL FCLVATDFYR 
      3110       3120       3130       3140 
HQIEEELDRR AFQSVLEVVA APGSPYHRLL TCLRNVHKVT TC
Length:3,142
Mass (Da):347,603
Last modified:May 18, 2010 - v2
Checksum:iA267509E84D52F0D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YA07H0YA07_HUMAN
Huntingtin
HTT
112Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti823C → S in BAA36753 (PubMed:11013077).Curated1

Polymorphismi

The poly-Gln region of HTT is highly polymorphic (10 to 35 repeats) in the normal population and is expanded to about 36-120 repeats in Huntington disease patients. The repeat length usually increases in successive generations, but contracts also on occasion. The adjacent poly-Pro region is also polymorphic and varies between 7-12 residues. Polyglutamine expansion leads to elevated susceptibility to apopain cleavage and likely result in accelerated neuronal apoptosis (PubMed:8696339).1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00526818Q → QQQ. 1
Natural variantiVAR_079026703P → L in LOMARS. 1 PublicationCorresponds to variant dbSNP:rs768047421Ensembl.1
Natural variantiVAR_060170893G → R. Corresponds to variant dbSNP:rs363075Ensembl.1
Natural variantiVAR_0601711064V → I. Corresponds to variant dbSNP:rs35892913Ensembl.1
Natural variantiVAR_0601721091I → M. Corresponds to variant dbSNP:rs1143646Ensembl.1
Natural variantiVAR_0601731173T → A. Corresponds to variant dbSNP:rs3025843Ensembl.1
Natural variantiVAR_0601741260T → M Found in a patient with Rett syndrome-like phenotype; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34315806Ensembl.1
Natural variantiVAR_0540171382E → A. Corresponds to variant dbSNP:rs3025837Ensembl.1
Natural variantiVAR_0601751385N → H. Corresponds to variant dbSNP:rs3025837Ensembl.1
Natural variantiVAR_0601761720T → N. Corresponds to variant dbSNP:rs363125Ensembl.1
Natural variantiVAR_0601772113D → Y. Corresponds to variant dbSNP:rs1143648Ensembl.1
Natural variantiVAR_0601782309Y → H. Corresponds to variant dbSNP:rs362331Ensembl.1
Natural variantiVAR_0790272717F → L in LOMARS. 1 PublicationCorresponds to variant dbSNP:rs1085307052Ensembl.1
Natural variantiVAR_0601792786V → I1 PublicationCorresponds to variant dbSNP:rs362272Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L12392 mRNA Translation: AAB38240.1
AB016794 mRNA Translation: BAA36753.1
Z49154 Genomic DNA Translation: CAA89024.1
Z49155 Genomic DNA Translation: CAA89025.1
Z49208 Genomic DNA No translation available.
Z49769 Genomic DNA Translation: CAA89839.1
Z68756 Genomic DNA No translation available.
Z69649 Genomic DNA No translation available.
L27350 Genomic DNA No translation available.
L27351 Genomic DNA No translation available.
L27352 Genomic DNA No translation available.
L27353 Genomic DNA No translation available.
L27354 Genomic DNA No translation available.
L34020 Genomic DNA No translation available.
L20431 mRNA Translation: AAA52702.1
PIRiA46068
RefSeqiNP_002102.4, NM_002111.8
UniGeneiHs.518450

Genome annotation databases

EnsembliENST00000355072; ENSP00000347184; ENSG00000197386
GeneIDi3064
KEGGihsa:3064
UCSCiuc062uto.1 human

Keywords - Coding sequence diversityi

Polymorphism, Triplet repeat expansion

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Huntingtin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L12392 mRNA Translation: AAB38240.1
AB016794 mRNA Translation: BAA36753.1
Z49154 Genomic DNA Translation: CAA89024.1
Z49155 Genomic DNA Translation: CAA89025.1
Z49208 Genomic DNA No translation available.
Z49769 Genomic DNA Translation: CAA89839.1
Z68756 Genomic DNA No translation available.
Z69649 Genomic DNA No translation available.
L27350 Genomic DNA No translation available.
L27351 Genomic DNA No translation available.
L27352 Genomic DNA No translation available.
L27353 Genomic DNA No translation available.
L27354 Genomic DNA No translation available.
L34020 Genomic DNA No translation available.
L20431 mRNA Translation: AAA52702.1
PIRiA46068
RefSeqiNP_002102.4, NM_002111.8
UniGeneiHs.518450

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D3Xmodel-A199-325[»]
2LD0NMR-A1-17[»]
2LD2NMR-A1-17[»]
3IO4X-ray3.63A/B/C1-64[»]
3IO6X-ray3.70A/B/C1-64[»]
3IORX-ray3.60A/B/C1-64[»]
3IOTX-ray3.50A/B/C1-64[»]
3IOUX-ray3.70A/B/C1-64[»]
3IOVX-ray3.70A/B/C1-64[»]
3IOWX-ray3.50A/B/C1-64[»]
3LRHX-ray2.60B/D/F/H/J/L/N/P5-18[»]
4FE8X-ray3.00A/B/C1-64[»]
4FEBX-ray2.80A/B/C1-64[»]
4FECX-ray3.00A/B/C1-64[»]
4FEDX-ray2.81A/B/C1-64[»]
4RAVX-ray2.50E/F1-17[»]
6EZ8electron microscopy4.00A1-3142[»]
ProteinModelPortaliP42858
SMRiP42858
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109314, 232 interactors
CORUMiP42858
DIPiDIP-32492N
ELMiP42858
IntActiP42858, 362 interactors
MINTiP42858
STRINGi9606.ENSP00000347184

Chemistry databases

BindingDBiP42858
ChEMBLiCHEMBL5514

Protein family/group databases

MoonDBiP42858 Predicted

PTM databases

iPTMnetiP42858
PhosphoSitePlusiP42858
SwissPalmiP42858

Polymorphism and mutation databases

BioMutaiHTT
DMDMi296434520

Proteomic databases

EPDiP42858
MaxQBiP42858
PaxDbiP42858
PeptideAtlasiP42858
PRIDEiP42858
ProteomicsDBi55561

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355072; ENSP00000347184; ENSG00000197386
GeneIDi3064
KEGGihsa:3064
UCSCiuc062uto.1 human

Organism-specific databases

CTDi3064
DisGeNETi3064
EuPathDBiHostDB:ENSG00000197386.10
GeneCardsiHTT
GeneReviewsiHTT
HGNCiHGNC:4851 HTT
HPAiCAB002756
HPA026114
MalaCardsiHTT
MIMi143100 phenotype
613004 gene
617435 phenotype
neXtProtiNX_P42858
OpenTargetsiENSG00000197386
Orphaneti399 Huntington disease
248111 Juvenile Huntington disease
PharmGKBiPA164741646
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDZV Eukaryota
ENOG410XSEC LUCA
GeneTreeiENSGT00390000015863
HOGENOMiHOG000082472
HOVERGENiHBG005953
InParanoidiP42858
KOiK04533
OMAiWLIVNHV
OrthoDBiEOG091G004G
PhylomeDBiP42858
TreeFamiTF323608

Enzyme and pathway databases

SignaLinkiP42858
SIGNORiP42858

Miscellaneous databases

ChiTaRSiHTT human
EvolutionaryTraceiP42858
GeneWikiiHuntingtin
GenomeRNAii3064
PROiPR:P42858
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197386 Expressed in 167 organ(s), highest expression level in cerebellum
CleanExiHS_HTT
ExpressionAtlasiP42858 baseline and differential
GenevisibleiP42858 HS

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000091 Huntingtin
IPR028426 Huntingtin_fam
IPR024613 Huntingtin_middle-repeat
PANTHERiPTHR10170 PTHR10170, 1 hit
PfamiView protein in Pfam
PF12372 DUF3652, 1 hit
PRINTSiPR00375 HUNTINGTIN
SUPFAMiSSF48371 SSF48371, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiHD_HUMAN
AccessioniPrimary (citable) accession number: P42858
Secondary accession number(s): Q9UQB7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 196 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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