3064 - Gene ResultHTT Huntingtin [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections HTT huntingtin [ Homo sapiens (human) ] Gene ID: 3064, updated on 25-Nov-2025

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Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help Official Symbol HTTprovided by HGNC Official Full Name huntingtinprovided by HGNC Primary source HGNC:HGNC:4851 See related Ensembl:ENSG00000197386 MIM:613004; AllianceGenome:HGNC:4851 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HD; IT15; LOMARS Summary Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in brain (RPKM 9.1), skin (RPKM 8.2) and 25 other tissues See more Orthologs mouse all NEW Try the new Gene table Try the new Transcript table

Genomic context

Go to the top of the page Help See HTT in Genome Data Viewer Location: 4p16.3 Exon count: 67

Annotation release	Status	Assembly	Chr	Location
RS_2025_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (3074681..3243960)
RS_2025_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (3073408..3242718)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (3076408..3245687)

Chromosome 4 - NC_000004.12

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000004.12 Chromosome 4 Reference GRCh38.p14 Primary Assembly NG_009378.1 RefSeqGene NC_060928.1 Chromosome 4 Alternate T2T-CHM13v2.0 NC_000004.11 Chromosome 4 Reference GRCh37.p13 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues

• Project title: Tissue-specific circular RNA induction during human fetal development
• Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
• BioProject: PRJNA270632
• Publication: PMID 26076956
• Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

1. Structural features and domain organization of huntingtin fibrils. Bugg CW, et al. J Biol Chem, 2012 Sep 14. PMID 22801429, Free PMC Article
2. Intergenerational instability in Huntington disease: extreme repeat changes among 134 transmissions. Ramos EM, et al. Mov Disord, 2012 Apr. PMID 22162197
3. Slow amyloid nucleation via α-helix-rich oligomeric intermediates in short polyglutamine-containing huntingtin fragments. Jayaraman M, et al. J Mol Biol, 2012 Feb 3. PMID 22178474, Free PMC Article
4. Inhibiting the nucleation of amyloid structure in a huntingtin fragment by targeting α-helix-rich oligomeric intermediates. Mishra R, et al. J Mol Biol, 2012 Feb 3. PMID 22178478, Free PMC Article
5. Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin. Waldron-Roby E, et al. J Neurosci, 2012 Jan 4. PMID 22219281, Free PMC Article

See all (793) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. Nucleation of Huntingtin Aggregation Proceeds via Conformational Conversion of Pre-Formed, Sparsely-Populated Tetramers. Title: Nucleation of Huntingtin Aggregation Proceeds via Conformational Conversion of Pre-Formed, Sparsely-Populated Tetramers.
2. Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure. Title: Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure.
3. Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights. Title: Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.
4. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. Title: Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
5. Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases. Title: Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.
6. Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions. Title: Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.
7. Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues. Title: Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
8. Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum. Title: Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum.
9. A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease. Title: A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
10. Interaction between huntingtin exon 1 and HEAT repeat structure probed by chimeric model proteins. Title: Interaction between huntingtin exon 1 and HEAT repeat structure probed by chimeric model proteins.

Submit: New GeneRIF Correction See all GeneRIFs (576)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Huntington disease MedGen: C0020179 OMIM: 143100 GeneReviews: Huntington Disease	Compare labs
Lopes-Maciel-Rodan syndrome MedGen: C4479491 OMIM: 617435 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	The interaction of HIV-1 CA with human cellular huntingtin protein (HTT) is identified by yeast two-hybrid screen	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

• SHGC-59533 (e-PCR)
  • UniSTS:34063

• D4S2663 (e-PCR)
  • UniSTS:31249

• G33683 (e-PCR)
  • UniSTS:8980

• G42605 (e-PCR)
  • UniSTS:94507

• PMC20760P1 (e-PCR)
  • UniSTS:271970

• GDB:363582 (e-PCR)
  • UniSTS:156775

• GDB:363587 (e-PCR)
  • UniSTS:156776

• GDB:197987 (e-PCR)
  • UniSTS:156011

• SHGC-30823 (e-PCR)
  • UniSTS:70263

• GDB:249651 (e-PCR)
  • UniSTS:156286

• SHGC-50176 (e-PCR)
  • UniSTS:37272

• GDB:316174 (e-PCR)
  • UniSTS:156570

• D4S1337 (e-PCR)
  • UniSTS:85926

• SHGC-51023 (e-PCR)
  • UniSTS:22694

• RH66772 (e-PCR)
  • UniSTS:17834

• D4S281 (e-PCR)
  • UniSTS:54734

• SHGC-67369 (e-PCR)
  • UniSTS:39383

• GDB:372940 (e-PCR)
  • UniSTS:156892

• WI-20376 (e-PCR)
  • UniSTS:42205

• SHGC-67859 (e-PCR)
  • UniSTS:43486

• PMC166399P1 (e-PCR)
  • UniSTS:271586

• PMC166399P2 (e-PCR)
  • UniSTS:271587

• D4S3290 (e-PCR)
  • UniSTS:36579

• HD__6704 (e-PCR)
  • UniSTS:468456

Homology

• NCBI Orthologs
Orthologs from OrthoDB

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-tubulin binding	IDA Inferred from Direct Assaymore info	PubMed
enables dynactin binding	IPI Inferred from Physical Interactionmore info	PubMed
enables dynein intermediate chain binding	IDA Inferred from Direct Assaymore info	PubMed
enables heat shock protein binding	IPI Inferred from Physical Interactionmore info	PubMed
enables identical protein binding	IPI Inferred from Physical Interactionmore info	PubMed
enables kinase binding	IPI Inferred from Physical Interactionmore info	PubMed
enables p53 binding	IPI Inferred from Physical Interactionmore info	PubMed
enables phosphoprotein phosphatase activity	IMP Inferred from Mutant Phenotypemore info	PubMed
enables profilin binding	IPI Inferred from Physical Interactionmore info	PubMed
enables protein binding	IPI Inferred from Physical Interactionmore info	PubMed
enables transmembrane transporter binding	IDA Inferred from Direct Assaymore info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi organization	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in apoptotic process	IEA Inferred from Electronic Annotationmore info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestormore info
involved_in establishment of mitotic spindle orientation	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in microtubule-based process	IEA Inferred from Electronic Annotationmore info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotationmore info
involved_in negative regulation of extrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestormore info
involved_in positive regulation of CAMKK-AMPK signaling cascade	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in positive regulation of aggrephagy	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assaymore info	PubMed
involved_in positive regulation of calcium-mediated signaling	IDA Inferred from Direct Assaymore info	PubMed
acts_upstream_of_or_within positive regulation of cilium assembly	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in positive regulation of lipophagy	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in positive regulation of mitophagy	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in protein destabilization	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in regulation of CAMKK-AMPK signaling cascade	IBA Inferred from Biological aspect of Ancestormore info
involved_in regulation of CAMKK-AMPK signaling cascade	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in regulation of signal transduction	IEA Inferred from Electronic Annotationmore info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestormore info
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestormore info
involved_in vesicle transport along microtubule	IMP Inferred from Mutant Phenotypemore info	PubMed
involved_in vocal learning	IMP Inferred from Mutant Phenotypemore info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assaymore info	PubMed
located_in autophagosome	IDA Inferred from Direct Assaymore info	PubMed
located_in autophagosome	IEA Inferred from Electronic Annotationmore info
is_active_in axon	IBA Inferred from Biological aspect of Ancestormore info
located_in axon	IDA Inferred from Direct Assaymore info	PubMed
located_in axon	IEA Inferred from Electronic Annotationmore info
located_in centriole	IDA Inferred from Direct Assaymore info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assaymore info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotationmore info
located_in cytoplasm	IMP Inferred from Mutant Phenotypemore info	PubMed
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestormore info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotationmore info
located_in cytoplasmic vesicle membrane	IDA Inferred from Direct Assaymore info	PubMed
located_in cytosol	IDA Inferred from Direct Assaymore info	PubMed
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestormore info
located_in dendrite	IDA Inferred from Direct Assaymore info	PubMed
located_in early endosome	IDA Inferred from Direct Assaymore info	PubMed
located_in early endosome	IEA Inferred from Electronic Annotationmore info
located_in endoplasmic reticulum	IDA Inferred from Direct Assaymore info	PubMed
located_in inclusion body	IMP Inferred from Mutant Phenotypemore info	PubMed
located_in late endosome	IDA Inferred from Direct Assaymore info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assaymore info
located_in nucleus	IDA Inferred from Direct Assaymore info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotationmore info
located_in nucleus	IMP Inferred from Mutant Phenotypemore info	PubMed
located_in perinuclear region of cytoplasm	IMP Inferred from Mutant Phenotypemore info	PubMed
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similaritymore info
is_active_in postsynaptic cytosol	IDA Inferred from Direct Assaymore info	PubMed
is_active_in presynaptic cytosol	IDA Inferred from Direct Assaymore info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assaymore info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotypemore info	PubMed
located_in synapse	IEA Inferred from Electronic Annotationmore info

General protein information

Go to the top of the page Help Preferred Names huntingtin Names huntington disease protein NP_002102.4

Length

• 3144

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

1. NG_009378.1 RefSeqGene

   Range 5001..174286 Download GenBank, FASTA, Sequence Viewer (Graphics), LRG_763

mRNA and Protein(s)

1. NM_001388492.1 → NP_001375421.1  huntingtin isoform 1

   Status: REVIEWED

   Source sequence(s) AL390059 Consensus CDS CCDS43206.1 UniProtKB/Swiss-Prot P42858, Q9UQB7 UniProtKB/TrEMBL A0A7P0TA78 Related ENSP00000347184.5, ENST00000355072.11 Conserved Domains (2) summary sd00044Location:131 → 153 HEAT; HEAT repeat [structural motif] pfam12372Location:1513 → 1553 DUF3652; Huntingtin protein region

2. NM_002111.8 → NP_002102.4  huntingtin isoform 2

   See identical proteins and their annotated locations for NP_002102.4

   Status: REVIEWED

   Source sequence(s) AL390059, BM661887, L12392 UniProtKB/TrEMBL A0A7P0TA78 Conserved Domains (2) summary pfam12372Location:1527 → 1553 DUF3652; Huntingtin protein region sd00044Location:133 → 155 HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both reference and alternate assemblies. Model RNAs and proteins are also reported here.

Reference GRCh38.p14 Primary Assembly

Genomic

1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

   Range 3074681..3243960 Download GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

1. NC_060928.1 Alternate T2T-CHM13v2.0

   Range 3073408..3242718 Download GenBank, FASTA, Sequence Viewer (Graphics)

Related sequences

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Nucleotide		Protein
Heading	Accession and Version

Protein Accession	Links
	GenPept Link	UniProtKB Link
P42858.2	GenPept	UniProtKB/Swiss-Prot:P42858

Additional links

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Locus-specific Databases

• HTT database

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources

• Dryad Digital Repository
• Dryad Digital Repository

Chemical Information

• Interologous Interaction Database
• Interologous Interaction Database
• MilliporeSigma
• Htt products

Medical

• MedlinePlus Health Information
• HTT gene

Molecular Biology Databases

• Bgee database
• HTT gene expression
• BioGPS
• BioGPS
• BioGRID Open Repository of CRISPR Screens (ORCS)
• BioGRID CRISPR Screen Phenotypes (41 hits/1369 screens)
• Domain Mapping of Disease Mutations
• HTT
• Eukaryotic Promoter Database
• HTT_1
• GenAge Database of Aging Related Genes
• GenAge Database of Aging Related Genes
• GlyGen glycoinformatics resource
• GlyGen glycoinformatics resource
• Human Gene Mutation Database
• Human Gene Mutation Database
• Human eFP Browser
• Human eFP Browser
• Human eFP Browser
• Human eFP Browser
• Ingenuity Pathways Analysis
• Ingenuity Pathways Analysis
• InnateDB
• InnateDB
• InterMine
• InterMine
• Kyoto Encyclopedia of Genes and Genomes
• Kyoto Encyclopedia of Genes and Genomes
• OMA Browser: Orthologous MAtrix
• OMA Browser: Orthologous MAtrix
• OrthoDB catalog of orthologs
• Orthologs
• Pharmacogenomics Knowledge Base
• Annotated Pharmacogenomic Information for HTT [ClinPGx]
• PhosphoSitePlus
• PhosphoSitePlus® - comprehensive post-translational modification resource
• The Gene Wiki
• The Gene Wiki
• The Weizmann Institute of Science GeneCards and MalaCards databases
• GeneCard for HTT

Research Materials

• Addgene Non-profit plasmid repository
• Get Plasmids - Addgene
• Bio-Techne
• Huntingtin Proteins
• Huntingtin Antibodies
• Creative Biogene
• huntingtin
• huntingtin
• ExactAntigen/Labome
• reagents
• reagent review
• GenScript latest version of gene cDNA ORF Clone
• GenScript latest version of gene cDNA ORF Clone
• GeneCopoeia Inc.
• Order miRNA target clones
• Order shRNA clones
• Order promoter clone
• Kazusa DNA Research Institute
• Kazusa DNA Research Institute
• OriGene Technologies
• Order GeneID 3064 cDNA Clone|Lysate|Protein|Antibody|RNAi

Tools

• GeneMANIA
• GeneMANIA

Miscellaneous

• Reactome
• Reactome Event:Gene expression (Transcription)
• Reactome Entity:P42858

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Supplemental Content

Table of contents

• Summary
• Genomic context
• Genomic regions, transcripts, and products
• Expression
• Bibliography
• Phenotypes
• Variation
• HIV-1 interactions
• Pathways from PubChem
• Interactions
• General gene information Markers, Homology, Gene Ontology
• General protein information
• NCBI Reference Sequences (RefSeq)
• Related sequences
• Additional links Locus-specific Databases

Genome Browsers

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Related information

• 3D structures 3D structure of a gene
• BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
• BioAssay by Target (Summary) Summarized PubChem Data on the gene, showing the active data by default
• BioAssay, by Gene target PubChem BioAssays done on the Gene target
• BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
• BioProjects BioProjects related to a gene
• Books Books
• CCDS Link to CCDS
• ClinVar Related medical variations
• Conserved Domains Related CDD
• dbVar Link from Gene to dbVar
• Full text in PMC PMC links
• Full text in PMC_nucleotide Full text in PubMedCentral identified from shared sequence links
• Functional Class Functional class of the sequence domain architecture
• Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
• Genes with a similar H3K4me3 profile Genes with a similar profile of promoter-activating H3K4me3 modifications across several tissue types
• Genome Related Genome
• GEO Profiles Related GEO
• GTR Tests for this gene in the NIH Genetic Testing Registry
• HomoloGene Related HomoloGene
• MedGen Related information in MedGen
• Nucleotide Link to related Nucleotide entry
• OMIM Link to related OMIM entry
• Protein Link to related protein entry
• PubChem Compound PubChem Compounds
• PubChem Substance PubChem Substances
• PubMed Link to related PubMed entry
• PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
• PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
• PubMed(nucleotide/PMC) Citations in PubMed identified from shared sequence and PMC links.
• RefSeq Proteins Link to Protein RefSeqs
• RefSeq RNAs Link to Nucleotide RefSeq RNAs
• RefSeqGene Link to Nucleotide RefSeqGenes
• Related gene-specific medical variations Related medical variations
• SNP Related SNP records
• Taxonomy Link to related taxonomy entry
• Variation Viewer Related Variants

Links to other resources

• HGNC
• Ensembl
• AllianceGenome
• AceView
• HTT database
• UCSC
• MGC
• HuGE Navigator
• KEGG
• Reactome

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