Htt huntingtin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Httprovided by RGD
Official Full Name: huntingtinprovided by RGD
Primary source: RGD:68337
See related: Ensembl:ENSRNOG00000011073 AllianceGenome:RGD:68337
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Hd; Hdh
Summary: Enables signaling receptor binding activity. Involved in several processes, including mRNA transport; negative regulation of cysteine-type endopeptidase activity; and regulation of intracellular mRNA localization. Located in several cellular components, including neuronal cell body; neuronal ribonucleoprotein granule; and postsynaptic density. Used to study Huntington's disease. Biomarker of transient cerebral ischemia. 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: Biased expression in Adrenal (RPKM 103.1), Brain (RPKM 102.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 14q21

Exon count:: 68

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	14	NC_086032.1 (80070456..80219668, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	14	NC_051349.1 (75845836..75996094, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	14	NC_005113.4 (81105139..81254637, complement)

Chromosome 14 - NC_086032.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.
Title: TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.
results provide crucial insights into the role of phosphorylation in regulating Httex1 structure and function, and underscore the critical importance of identifying the enzymes responsible for regulating Htt phosphorylation, and their potential as therapeutic targets for managing Huntington's disease
Title: N-terminal Huntingtin (Htt) phosphorylation is a molecular switch regulating Htt aggregation, helical conformation, internalization, and nuclear targeting.
Heat shock promotes inclusion body formation of mutant Htt and alleviates mutant Htt-induced HSF1 dysfunction.
Title: Heat shock promotes inclusion body formation of mutant huntingtin (mHtt) and alleviates mHtt-induced transcription factor dysfunction.
results indicate deficits in several parameters representative of sociability in rats with huntingtin mutation in a model of Huntington disease
Title: BACHD rats expressing full-length mutant huntingtin exhibit differences in social behavior compared to wild-type littermates.
The N-terminal N17 promotes amyloid fibril formation, while the C-terminal Proline Rich Domain destabilizes fibrils and enhances oligomer formation.
Title: Control of the structural landscape and neuronal proteotoxicity of mutant Huntingtin by domains flanking the polyQ tract.
We found that the protein is secreted via a late endosomal/lysosomal unconventional secretory pathway. Moreover, mHtt secretion can be reduced significantly by phosphatidylinositol 3-kinase and neutral sphingomyelinase inhibitors. Understanding and manipulating the secretion of mHtt is important because of its potentially harmful propagation in the brain.
Title: Mutant Huntingtin Is Secreted via a Late Endosomal/Lysosomal Unconventional Secretory Pathway.
the long HTT 3'UTR suppresses translation.
Title: Distinct cellular toxicity of two mutant huntingtin mRNA variants due to translation regulation.
Compared to other known markers of HTT toxicity, nuclear DNA damage appears to be a relatively early pathological event.
Title: Folding Landscape of Mutant Huntingtin Exon1: Diffusible Multimers, Oligomers and Fibrils, and No Detectable Monomer.
Huntingtin is an E2-inducible protein involved in the first steps of E2-induced signaling pathways committed to neuronal protection against oxidative stress.
Title: 17β-Estradiol modulates huntingtin levels in rat tissues and in human neuroblastoma cell line.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

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

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables diazepam binding	ISO Inferred from Sequence Orthology more info
enables dynactin binding	IEA Inferred from Electronic Annotation more info
enables dynactin binding	ISO Inferred from Sequence Orthology more info
enables dynein intermediate chain binding	IEA Inferred from Electronic Annotation more info
enables dynein intermediate chain binding	ISO Inferred from Sequence Orthology more info
enables heat shock protein binding	IEA Inferred from Electronic Annotation more info
enables heat shock protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables kinase binding	IEA Inferred from Electronic Annotation more info
enables kinase binding	ISO Inferred from Sequence Orthology more info
enables p53 binding	IEA Inferred from Electronic Annotation more info
enables p53 binding	ISO Inferred from Sequence Orthology more info
enables profilin binding	IEA Inferred from Electronic Annotation 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	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IEA Inferred from Electronic Annotation more info
enables transmembrane transporter binding	ISO Inferred from Sequence Orthology more info

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

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in autophagosome	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centriole	ISO Inferred from Sequence Orthology more info
located_in clathrin-coated vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle membrane	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in early endosome	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in inclusion body	IEA Inferred from Electronic Annotation more info
located_in inclusion body	ISO Inferred from Sequence Orthology more info
located_in late endosome	IEA Inferred from Electronic Annotation more info
located_in late endosome	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal ribonucleoprotein granule	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic cytosol	ISO Inferred from Sequence Orthology more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic cytosol	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in synaptic membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: huntingtin

Names: HD protein homolog; Huntington disease gene homolog; huntingtin (Huntington disease); 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_024357.5 → NP_077333.2 huntingtin

See identical proteins and their annotated locations for NP_077333.2

Status: VALIDATED

Source sequence(s)

JAXUCZ010000014

UniProtKB/Swiss-Prot

P51111

UniProtKB/TrEMBL

A6IK16, G3V9P7

Related

ENSRNOP00000054971.2, ENSRNOT00000058166.4

Conserved Domains (2) summary

pfam12372
Location:1506 → 1532

DUF3652; Huntingtin protein region

sd00044
Location:110 → 132

HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086032.1 Reference GRCr8

Range

80070456..80219668 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039091788.2 → XP_038947716.1 huntingtin isoform X3

UniProtKB/Swiss-Prot

P51111

Conserved Domains (2) summary

sd00044
Location:110 → 132

HEAT; HEAT repeat [structural motif]

pfam12372
Location:1454 → 1494

DUF3652; Huntingtin protein region
XM_006251230.5 → XP_006251292.1 huntingtin isoform X1

UniProtKB/Swiss-Prot

P51111

UniProtKB/TrEMBL

A0A8I6AXC3

Related

ENSRNOP00000093649.1

Conserved Domains (2) summary

pfam12372
Location:1490 → 1516

DUF3652; Huntingtin protein region

sd00044
Location:110 → 132

HEAT; HEAT repeat [structural motif]
XM_039091787.2 → XP_038947715.1 huntingtin isoform X2

UniProtKB/Swiss-Prot

P51111

Conserved Domains (2) summary

sd00044
Location:110 → 132

HEAT; HEAT repeat [structural motif]

pfam12372
Location:1470 → 1510

DUF3652; Huntingtin protein region
XM_008770274.4 → XP_008768496.1 huntingtin isoform X4

UniProtKB/TrEMBL

A0A8I5Y907

Conserved Domains (1) summary

pfam12372
Location:1369 → 1395

DUF3652; Huntingtin protein region
XM_006251232.5 → XP_006251294.1 huntingtin isoform X5

UniProtKB/Swiss-Prot

P51111

Conserved Domains (2) summary

pfam12372
Location:1506 → 1532

DUF3652; Huntingtin protein region

sd00044
Location:110 → 132

HEAT; HEAT repeat [structural motif]
XM_039091789.2 → XP_038947717.1 huntingtin isoform X6

Conserved Domains (2) summary

sd00044
Location:110 → 132

HEAT; HEAT repeat [structural motif]

pfam12372
Location:1494 → 1534

DUF3652; Huntingtin protein region