Htt huntingtin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Httprovided by MGI
Official Full Name: huntingtinprovided by MGI
Primary source: MGI:MGI:96067
See related: Ensembl:ENSMUSG00000029104 AllianceGenome:MGI:96067
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hd; Hdh; IT15; C430023I11Rik
Summary: Enables diazepam binding activity. Involved in several processes, including postsynapse to nucleus signaling pathway; regulation of cAMP-dependent protein kinase activity; and regulation of protein localization to nucleus. Acts upstream of or within several processes, including carboxylic acid metabolic process; positive regulation of cilium assembly; and transport along microtubule. Located in several cellular components, including centriole; inclusion body; and perinuclear region of cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including central nervous system; olfactory epithelium; peripheral nervous system; retina; and testis. Used to study Huntington's disease. Human ortholog(s) of this gene implicated in Huntington's disease and Parkinson's disease. Orthologous to human HTT (huntingtin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in cerebellum adult (RPKM 10.2), cortex adult (RPKM 9.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B2; 5 17.92 cM

Exon count:: 67

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (34919084..35069878)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (34761721..34912534)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lowering mutant huntingtin by small molecules relieves Huntington's disease symptoms and progression.
Title: Lowering mutant huntingtin by small molecules relieves Huntington's disease symptoms and progression.
Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
Title: Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
Huntingtin recruits KIF1A to transport synaptic vesicle precursors along the mouse axon to support synaptic transmission and motor skill learning.
Title: Huntingtin recruits KIF1A to transport synaptic vesicle precursors along the mouse axon to support synaptic transmission and motor skill learning.
Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice.
Title: Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice.
Elucidation of Site-Specific Ubiquitination on Chaperones in Response to Mutant Huntingtin.
Title: Elucidation of Site-Specific Ubiquitination on Chaperones in Response to Mutant Huntingtin.
A Specific Mini-Intrabody Mediates Lysosome Degradation of Mutant Huntingtin.
Title: A Specific Mini-Intrabody Mediates Lysosome Degradation of Mutant Huntingtin.
Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
Title: Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
Amyloid modifier SERF1a interacts with polyQ-expanded huntingtin-exon 1 via helical interactions and exacerbates polyQ-induced toxicity.
Title: Amyloid modifier SERF1a interacts with polyQ-expanded huntingtin-exon 1 via helical interactions and exacerbates polyQ-induced toxicity.
AAV5-miHTT-mediated huntingtin lowering improves brain health in a Huntington's disease mouse model.
Title: AAV5-miHTT-mediated huntingtin lowering improves brain health in a Huntington's disease mouse model.
Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington's disease.
Title: Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington's disease.

Submit: New GeneRIF Correction See all GeneRIFs (282)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (46) 1 citation
Chemically induced (ENU) (7) 1 citation
Endonuclease-mediated (11) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D5Jcs83 (e-PCR), detects polymorphism
- UniSTS:507905

D5Jcs84 (e-PCR), detects polymorphism
- UniSTS:507906

Hdh (e-PCR), detects polymorphism
- UniSTS:280392

RH136043 (e-PCR)
- UniSTS:210038

Hdh (e-PCR), detects polymorphism
- UniSTS:143334

Hdh (e-PCR), detects polymorphism
- UniSTS:143335

AA819574 (e-PCR)
- UniSTS:243448

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables diazepam binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables dynactin binding	ISO Inferred from Sequence Orthology more info
enables dynein intermediate chain binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables profilin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anatomical structure morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within axo-dendritic transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within citrulline metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within dopamine receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryo development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoplasmic reticulum to Golgi vesicle-mediated transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of mitotic spindle orientation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within grooming behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hormone metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lactate biosynthetic process from pyruvate	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mRNA transport	ISO Inferred from Sequence Orthology more info
involved_in microtubule depolymerization	ISO Inferred from Sequence Orthology more info
involved_in microtubule-based transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mitochondrial transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mitochondrion organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level iron ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural plate formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within olfactory lobe development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within paraxial mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptide hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of aggrephagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of lipophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynapse to nucleus signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynapse to nucleus signaling pathway	IEP Inferred from Expression Pattern more info	PubMed
involved_in postsynapse to nucleus signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein destabilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization to centrosome	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within quinolinate biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of CAMKK-AMPK signaling cascade	ISO Inferred from Sequence Orthology more info
involved_in regulation of cAMP-dependent protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cAMP-dependent protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of intracellular mRNA localization	ISO Inferred from Sequence Orthology more info
involved_in regulation of neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein localization to nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of synaptic plasticity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within social behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within striatum development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within urea cycle	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vesicle transport along microtubule	IDA Inferred from Direct Assay more info	PubMed
involved_in vesicle transport along microtubule	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within visual learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vocal learning	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in autophagosome	ISO Inferred from Sequence Orthology more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle membrane	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in inclusion body	ISO Inferred from Sequence Orthology more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in neuronal ribonucleoprotein granule	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic cytosol	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic cytosol	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: huntingtin

Names: HD protein homolog; Huntington disease gene homolog; huntington disease protein homolog

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_010414.3 → NP_034544.1 huntingtin

See identical proteins and their annotated locations for NP_034544.1

Status: VALIDATED

Source sequence(s)

AC133204, AC151669, BQ175932

Consensus CDS

CCDS19220.1

UniProtKB/Swiss-Prot

P42859

UniProtKB/TrEMBL

G3X9H5

Related

ENSMUSP00000078945.3, ENSMUST00000080036.3

Conserved Domains (2) summary

pfam12372
Location:1506 → 1532

DUF3652; Huntingtin protein region

sd00044
Location:111 → 133

HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

34919084..35069878

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006503744.4 → XP_006503807.1 huntingtin isoform X1

UniProtKB/Swiss-Prot

P42859

Conserved Domains (1) summary

pfam12372
Location:1356 → 1396

DUF3652; Huntingtin protein region
XM_017320683.2 → XP_017176172.1 huntingtin isoform X2

Conserved Domains (2) summary

PRK15127
Location:1122 → 1211

PRK15127; multidrug efflux RND transporter permease subunit AcrB

pfam12372
Location:208 → 248

DUF3652; Huntingtin protein region