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Entry version 200 (08 May 2019)
Sequence version 2 (18 May 2010)
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Protein

Huntingtin

Gene

HTT

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processApoptosis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-9022692 Regulation of MECP2 expression and activity

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P42858

SIGNOR Signaling Network Open Resource

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SIGNORi
P42858

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

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MoonDBi
P42858 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Huntingtin
Alternative name(s):
Huntington disease protein
Short name:
HD protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HTT
Synonyms:HD, IT15
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4851 HTT

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613004 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P42858

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

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DisGeNETi
3064

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HTT

MalaCards human disease database

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MalaCardsi
HTT
MIMi143100 phenotype
617435 phenotype

Open Targets

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OpenTargetsi
ENSG00000197386

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
399 Huntington disease
248111 Juvenile Huntington disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA164741646

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5514

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HTT

Domain mapping of disease mutations (DMDM)

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DMDMi
296434520

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000839421 – 3142HuntingtinAdd BLAST3142

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P42858

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P42858

MaxQB - The MaxQuant DataBase

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MaxQBi
P42858

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P42858

PeptideAtlas

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PeptideAtlasi
P42858

PRoteomics IDEntifications database

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PRIDEi
P42858

ProteomicsDB human proteome resource

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ProteomicsDBi
55561

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P42858

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P42858

SwissPalm database of S-palmitoylation events

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SwissPalmi
P42858

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000197386 Expressed in 167 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P42858 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P42858 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB002756
HPA026114

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109314, 237 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P42858

Database of interacting proteins

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DIPi
DIP-32492N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P42858

Protein interaction database and analysis system

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IntActi
P42858, 363 interactors

Molecular INTeraction database

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MINTi
P42858

STRING: functional protein association networks

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STRINGi
9606.ENSP00000347184

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P42858

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]
6N8CNMR-A/B/C/D2-24[»]

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P42858

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P42858

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni3 – 13Sufficient for interaction with TPR1 PublicationAdd BLAST11
Regioni491 – 502Interaction with ZDHHC171 PublicationAdd BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi2395 – 2404Nuclear export signalBy similarity10

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the huntingtin family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IDZV Eukaryota
ENOG410XSEC LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015863

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000082472

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P42858

KEGG Orthology (KO)

More...
KOi
K04533

Identification of Orthologs from Complete Genome Data

More...
OMAi
WLIVNHV

Database of Orthologous Groups

More...
OrthoDBi
33894at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P42858

TreeFam database of animal gene trees

More...
TreeFami
TF323608

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000091 Huntingtin
IPR028426 Huntingtin_fam
IPR024613 Huntingtin_middle-repeat

The PANTHER Classification System

More...
PANTHERi
PTHR10170 PTHR10170, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12372 DUF3652, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00375 HUNTINGTIN

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA267509E84D52F0D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YA07H0YA07_HUMAN
Huntingtin
HTT
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ISR3A0A3B3ISR3_HUMAN
Huntingtin
HTT
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3ITM9A0A3B3ITM9_HUMAN
Huntingtin
HTT
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU44A0A3B3IU44_HUMAN
Huntingtin
HTT
175Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3B3IU25A0A3B3IU25_HUMAN
Huntingtin
HTT
75Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti823C → S in BAA36753 (PubMed:11013077).Curated1

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

Protein sequence database of the Protein Information Resource

More...
PIRi
A46068

NCBI Reference Sequences

More...
RefSeqi
NP_002102.4, NM_002111.8

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355072; ENSP00000347184; ENSG00000197386

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3064

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3064

UCSC genome browser

More...
UCSCi
uc062uto.1 human

Keywords - Coding sequence diversityi

Polymorphism, Triplet repeat expansion

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

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[»]
6N8CNMR-A/B/C/D2-24[»]
SMRiP42858
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109314, 237 interactors
CORUMiP42858
DIPiDIP-32492N
ELMiP42858
IntActiP42858, 363 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
jPOSTiP42858
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

Comparative Toxicogenomics Database

More...
CTDi
3064
DisGeNETi3064

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HTT
GeneReviewsiHTT
HGNCiHGNC:4851 HTT
HPAiCAB002756
HPA026114
MalaCardsiHTT
MIMi143100 phenotype
613004 gene
617435 phenotype
neXtProtiNX_P42858
OpenTargetsiENSG00000197386
Orphaneti399 Huntington disease
248111 Juvenile Huntington disease
PharmGKBiPA164741646

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IDZV Eukaryota
ENOG410XSEC LUCA
GeneTreeiENSGT00390000015863
HOGENOMiHOG000082472
InParanoidiP42858
KOiK04533
OMAiWLIVNHV
OrthoDBi33894at2759
PhylomeDBiP42858
TreeFamiTF323608

Enzyme and pathway databases

ReactomeiR-HSA-9022692 Regulation of MECP2 expression and activity
SignaLinkiP42858
SIGNORiP42858

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HTT human
EvolutionaryTraceiP42858

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Huntingtin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3064

Protein Ontology

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PROi
PR:P42858

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000197386 Expressed in 167 organ(s), highest expression level in cerebellum
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P42858
Secondary accession number(s): Q9UQB7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: May 18, 2010
Last modified: May 8, 2019
This is version 200 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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