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UniProtKB - P42858 (HD_HUMAN)

Entry version 211 (02 Dec 2020)
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.
Promotes the formation of autophagic vesicles.1 Publication

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P42858

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9022692, Regulation of MECP2 expression and activity

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

More...SignaLinki		P42858

SIGNOR Signaling Network Open Resource

More...SIGNORi		P42858

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...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%5Fand%5Ftaxonomy%5Fsection">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
Cleaved into the following chain:
Huntingtin, myristoylated N-terminal fragment
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000197386.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:4851, HTT

Online Mendelian Inheritance in Man (OMIM)

More...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, Cytoplasmic vesicle, Endosome, 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)1 Publication
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.
Related information in OMIM
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.
Related information in OMIM
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%5Fand%5Fbiotech%5Fsection">'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
Mutagenesisi511D → A: Loss of proteolytic cleavage. 1 Publication1
Mutagenesisi528D → A: No effect on proteolytic cleavage. 1 Publication1
Mutagenesisi550D → E: Loss of proteolytic cleavage. Loss of myristoylation. 1 Publication1
Mutagenesisi551G → A: Loss of myristoylation. 2 Publications1
Mutagenesisi551G → S: Loss of myristoylation. 1 Publication1
Mutagenesisi584D → A: Loss of proteolytic cleavage. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		3064

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

More...GeneReviewsi		HTT

MalaCards human disease database

More...MalaCardsi		HTT
MIMi143100, phenotype
617435, phenotype

Open Targets

More...OpenTargetsi		ENSG00000197386

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

More...Orphaneti		399, Huntington disease
248111, Juvenile Huntington disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164741646

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P42858, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5514

Drug and drug target database

More...DrugBanki		DB09130, Copper

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HTT

Domain mapping of disease mutations (DMDM)

More...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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000839421 – 3142HuntingtinAdd BLAST3142
ChainiPRO_0000447477551 – 584Huntingtin, myristoylated N-terminal fragmentAdd BLAST34

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
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi551N-myristoyl glycine2 Publications1
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%5Fprocessing%5Fsection">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 caspases downstream of the polyglutamine stretch (PubMed:8696339, PubMed:9535906, PubMed:10770929, PubMed:29802276). The resulting N-terminal fragments are cytotoxic and provokes apoptosis (PubMed:10770929).4 Publications
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
Myristoylated at Gly-551, following proteolytic cleavage at Asp-550.2 Publications

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 caspase-31 Publication2
Sitei528 – 529Cleavage; by caspase-3Sequence analysis2
Sitei550 – 551Cleavage; by caspase-31 Publication2
Sitei584 – 585Cleavage; by caspase-61 Publication2
Sitei587 – 588Cleavage; by caspase-3Sequence analysis2

Keywords - PTMi

Acetylation, Lipoprotein, Myristate, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P42858

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P42858

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P42858

MaxQB - The MaxQuant DataBase

More...MaxQBi		P42858

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

More...PaxDbi		P42858

PeptideAtlas

More...PeptideAtlasi		P42858

PRoteomics IDEntifications database

More...PRIDEi		P42858

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55561

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P42858

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P42858

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

More...PhosphoSitePlusi		P42858

SwissPalm database of S-palmitoylation events

More...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

More...Bgeei		ENSG00000197386, Expressed in sural nerve and 179 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P42858, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P42858, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000197386, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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, PubMed:16476778).

Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A (PubMed:16476778).

By similarity12 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P42858
With#Exp.IntAct
ARHGAP24 [Q8N264]3EBI-466029,EBI-988764
BAZ1A [Q9NRL2]4EBI-466029,EBI-927511
BECN1 [Q14457]2EBI-466029,EBI-949378
CEP126 [Q9P2H0]2EBI-466029,EBI-473176
CHD3 [Q12873]3EBI-466029,EBI-523590
COPB1 [P53618]3EBI-466029,EBI-359063
CREBBP [Q92793]2EBI-466029,EBI-81215
CRMP1 [Q14194]2EBI-466029,EBI-473101
CTNNB1 [P35222]5EBI-466029,EBI-491549
DCTN2 [Q13561]6EBI-466029,EBI-715074
DNAJC11 [Q9NVH1]3EBI-466029,EBI-1055336
DNAJC21 [Q5F1R6]6EBI-466029,EBI-2654581
DNAJC4 [Q9NNZ3]3EBI-466029,EBI-4397791
DNALI1 [O14645]3EBI-466029,EBI-395638
DNM1 [Q05193]3EBI-466029,EBI-713135
DYNC1H1 [Q14204]5EBI-466029,EBI-356015
ECH1 [Q13011]2EBI-466029,EBI-711968
ELP1 [O95163]4EBI-466029,EBI-347559
ERCC6L [Q2NKX8]2EBI-466029,EBI-1042535
EVL - isoform 1 [Q9UI08-2]2EBI-466029,EBI-6448852
FEZ1 [Q99689]6EBI-466029,EBI-396435
FNBP4 [Q8N3X1]6EBI-466029,EBI-310600
FTL [P02792]2EBI-466029,EBI-713279
GIT1 [Q9Y2X7]10EBI-466029,EBI-466061
GOLPH3L [Q9H4A5]2EBI-466029,EBI-4403434
GTF3C3 [Q9Y5Q9]3EBI-466029,EBI-1054873
H3C12 [P68431]2EBI-466029,EBI-79722
HAP1 - isoform 2 [P54257-2]8EBI-466029,EBI-9392340
HEY2 [Q9UBP5]2EBI-466029,EBI-750630
HIP1 [O00291]4EBI-466029,EBI-473886
HMG20A [Q9NP66]2EBI-466029,EBI-740641
HMGB1 [P09429]13EBI-466029,EBI-389432
itself11EBI-466029,EBI-466029
JAKMIP1 [Q96N16]4EBI-466029,EBI-2680803
LDOC1 [O95751]5EBI-466029,EBI-740738
MAGEB6 [Q8N7X4]2EBI-466029,EBI-6447163
MBD1 [Q9UIS9]2EBI-466029,EBI-867196
MED15 [Q96RN5]3EBI-466029,EBI-394506
MED31 [Q9Y3C7]3EBI-466029,EBI-394707
MKRN2 [Q9H000]3EBI-466029,EBI-2341005
MRE11 [P49959]5EBI-466029,EBI-396513
MRFAP1L1 [Q96HT8]3EBI-466029,EBI-748896
MTSS1 [O43312]3EBI-466029,EBI-473954
NBR1 [Q14596]3EBI-466029,EBI-742698
NCOR1 [O75376]3EBI-466029,EBI-347233
NME4 [O00746]2EBI-466029,EBI-744871
NUP58 [Q9BVL2]4EBI-466029,EBI-2811583
OPTN [Q96CV9]7EBI-466029,EBI-748974
OSTF1 [Q92882]5EBI-466029,EBI-1051152
P4HA1 [P13674]5EBI-466029,EBI-1237386
PACSIN1 [Q9BY11]3EBI-466029,EBI-721769
PAK2 [Q13177]2EBI-466029,EBI-1045887
PFN2 [P35080]4EBI-466029,EBI-473138
PIAS4 [Q8N2W9]3EBI-466029,EBI-473160
PIBF1 [Q8WXW3]3EBI-466029,EBI-2558770
PIK3R1 [P27986]7EBI-466029,EBI-79464
PIK3R2 [O00459]6EBI-466029,EBI-346930
PIK3R3 [Q92569]6EBI-466029,EBI-79893
PKM [P14618]3EBI-466029,EBI-353408
PPARG [P37231]4EBI-466029,EBI-781384
PRMT2 [P55345]3EBI-466029,EBI-78458
PRPF40A [O75400]15EBI-466029,EBI-473291
RNF20 [Q5VTR2]3EBI-466029,EBI-2372238
RNF40 [O75150]3EBI-466029,EBI-744408
RPL4 [P36578]2EBI-466029,EBI-348313
SETD2 [Q9BYW2]4EBI-466029,EBI-945869
SH3GL3 [Q99963]9EBI-466029,EBI-473910
SNCA [P37840]4EBI-466029,EBI-985879
SORBS1 [Q9BX66]4EBI-466029,EBI-433642
SQSTM1 [Q13501]8EBI-466029,EBI-307104
SRGAP1 [Q7Z6B7]4EBI-466029,EBI-2481729
SRGAP2 [O75044]3EBI-466029,EBI-1051034
SRGAP3 [O43295]4EBI-466029,EBI-368166
SRRT [Q9BXP5]3EBI-466029,EBI-712721
TACC1 [O75410]4EBI-466029,EBI-624237
TANK [Q92844]3EBI-466029,EBI-356349
TCERG1 [O14776]9EBI-466029,EBI-473271
TP53 [P04637]4EBI-466029,EBI-366083
TRAFD1 [O14545]5EBI-466029,EBI-1396921
UBAC1 [Q9BSL1]5EBI-466029,EBI-749370
UBE2K [P61086]3EBI-466029,EBI-473850
ULK1 [O75385]8EBI-466029,EBI-908831
USP9X [Q93008]8EBI-466029,EBI-302524
WAC [Q9BTA9]5EBI-466029,EBI-749118
WBP4 [O75554]3EBI-466029,EBI-7251981
WDFY3 [Q8IZQ1]10EBI-466029,EBI-1569256
XAGE3 [Q8WTP9]3EBI-466029,EBI-6448284
XRCC6 [P12956]3EBI-466029,EBI-353208
ZDHHC17 [Q8IUH5]12EBI-466029,EBI-524753
ZFC3H1 [G3V1X1]2EBI-466029,EBI-6448783
ZFYVE19 [Q96K21]3EBI-466029,EBI-6448240
ZMAT2 [Q96NC0]2EBI-466029,EBI-2682299
Dync1i1 [O88485] from Mus musculus.2EBI-466029,EBI-492834
Hap1 [P54256] from Rattus norvegicus.3EBI-466029,EBI-994539
Itpr1 [P29994] from Rattus norvegicus.2EBI-466029,EBI-8614640

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109314, 360 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P42858

Database of interacting proteins

More...DIPi		DIP-32492N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P42858

Protein interaction database and analysis system

More...IntActi		P42858, 486 interactors

Molecular INTeraction database

More...MINTi		P42858

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000347184

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P42858

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P42858, protein

<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

Biological Magnetic Resonance Data Bank

More...BMRBi		P42858

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

More...SMRi		P42858

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...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		ENOG502QR1D, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000015863

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000428_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P42858

Identification of Orthologs from Complete Genome Data

More...OMAi		LHPEAFF

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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>
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>
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>
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%5Fin%5Fdisease">'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_081737551G → E Inhibits proteolytic cleavage at D-550; abolishes post-translational myristoylation; results in increased cleavage at D-511. 1 PublicationCorresponds to variant dbSNP:rs118005095Ensembl.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%5Freferences%5Fsection">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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
6RMHelectron microscopy9.60A1-3142[»]
6X9Oelectron microscopy2.60A1-3142[»]
BMRBiP42858
SMRiP42858
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109314, 360 interactors
CORUMiP42858
DIPiDIP-32492N
ELMiP42858
IntActiP42858, 486 interactors
MINTiP42858
STRINGi9606.ENSP00000347184

Chemistry databases

BindingDBiP42858
ChEMBLiCHEMBL5514
DrugBankiDB09130, Copper

Protein family/group databases

MoonDBiP42858, Predicted

PTM databases

iPTMnetiP42858
MetOSiteiP42858
PhosphoSitePlusiP42858
SwissPalmiP42858

Polymorphism and mutation databases

BioMutaiHTT
DMDMi296434520

Proteomic databases

EPDiP42858
jPOSTiP42858
MassIVEiP42858
MaxQBiP42858
PaxDbiP42858
PeptideAtlasiP42858
PRIDEiP42858
ProteomicsDBi55561

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P42858, 2 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3449, 784 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3064
DisGeNETi3064
EuPathDBiHostDB:ENSG00000197386.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		HTT
GeneReviewsiHTT
HGNCiHGNC:4851, HTT
HPAiENSG00000197386, Low tissue specificity
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

eggNOGiENOG502QR1D, Eukaryota
GeneTreeiENSGT00390000015863
HOGENOMiCLU_000428_0_0_1
InParanoidiP42858
OMAiLHPEAFF
OrthoDBi33894at2759
PhylomeDBiP42858
TreeFamiTF323608

Enzyme and pathway databases

PathwayCommonsiP42858
ReactomeiR-HSA-9022692, Regulation of MECP2 expression and activity
SignaLinkiP42858
SIGNORiP42858

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3064, 24 hits in 851 CRISPR screens

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

More...ChiTaRSi		HTT, human
EvolutionaryTraceiP42858

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Huntingtin

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

More...GenomeRNAii		3064
PharosiP42858, Tchem

Protein Ontology

More...PROi		PR:P42858
RNActiP42858, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000197386, Expressed in sural nerve and 179 other tissues
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

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: December 2, 2020
This is version 211 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, Reference proteome

Documents

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