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HTT huntingtin [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu23699 NM_002111 Homo sapiens huntingtin (HTT), mRNA. pcDNA3.1+-DYK On-demand TBD TBD
OHu23699C NM_002111 Homo sapiens huntingtin (HTT), mRNA. Customized vector On-demand TBD TBD

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Gene Symbol HTT
Entrez Gene ID 3064
Full Name huntingtin
Synonyms HD, IT15
General protein information
Preferred Names
huntingtin
Names
huntingtin
huntington disease protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p16.3

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 in the number of trinucleotide repeats 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 2008].
Disorder

MIM: 613004

Huntington disease, 143100 (3)

mRNA Protein Product Sequence Price Select
NM_002111, 588282786 NP_002102, 90903231 huntingtin ORF Sequence $4500.00
KEGG
hsa05016Huntington's disease
WikiPathways
WP437EGFR1 Signaling Pathway
Pathway Interaction Database
p53downstreampathwayDirect p53 effectors
Homo sapiens (human)HTTNP_002102.4
Pan troglodytes (chimpanzee)HTTXP_517080.4
Canis lupus familiaris (dog)HTTXP_536221.2
Bos taurus (cattle)HTTXP_002688476.1
Mus musculus (house mouse)HttNP_034544.1
Rattus norvegicus (Norway rat)HttNP_077333.2
Gallus gallus (chicken)HTTXP_420822.3
Danio rerio (zebrafish)httNP_571093.1
Xenopus (Silurana) tropicalis (western clawed frog)httNP_001007904.1
Process
IDNameEvidence
GO:0000050urea cycleIEA
GO:0000052citrulline metabolic processIEA
GO:0000132establishment of mitotic spindle orientationIMP
GO:0006606protein import into nucleusIEA
GO:0006888ER to Golgi vesicle-mediated transportIEA
GO:0006890retrograde vesicle-mediated transport, Golgi to ERIMP
GO:0007029endoplasmic reticulum organizationIEA
GO:0007030Golgi organizationIMP
GO:0007212dopamine receptor signaling pathwayIEA
GO:0007283spermatogenesisIEA
GO:0007569cell agingIEA
GO:0007625grooming behaviorIEA
GO:0007626locomotory behaviorIEA
GO:0008088axon cargo transportIEA
GO:0008340determination of adult lifespanIEA
GO:0008542visual learningIEA
GO:0009952anterior/posterior pattern specificationIEA
GO:0016197endosomal transportIEA
GO:0019244lactate biosynthetic process from pyruvateIEA
GO:0019805quinolinate biosynthetic processIEA
GO:0021756striatum developmentIEA
GO:0021988olfactory lobe developmentIEA
GO:0021990neural plate formationIEA
GO:0030073insulin secretionIEA
GO:0034047regulation of protein phosphatase type 2A activityIMP
GO:0035176social behaviorIEA
GO:0042445hormone metabolic processIEA
GO:0043524negative regulation of neuron apoptotic processIEA
GO:0046902regulation of mitochondrial membrane permeabilityIEA
GO:0047496vesicle transport along microtubuleIMP
GO:0048167regulation of synaptic plasticityIEA
GO:0048341paraxial mesoderm formationIEA
GO:0048513organ developmentIBA
GO:0048666neuron developmentIEA
GO:0051402neuron apoptotic processIEA
GO:0051592response to calcium ionIEA
GO:0051881regulation of mitochondrial membrane potentialIEA
GO:0051938L-glutamate importIEA
GO:0055072iron ion homeostasisIEA
GO:2001237negative regulation of extrinsic apoptotic signaling pathwayIMP
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIEA
GO:0005770late endosomeIDA
GO:0005776autophagic vacuoleIDA
GO:0005783endoplasmic reticulumIDA
GO:0005794Golgi apparatusIDA
GO:0005829cytosolIDA
GO:0016234inclusion bodyIEA
GO:0030424axonIDA
GO:0030425dendriteIDA
GO:0030659cytoplasmic vesicle membraneIDA
GO:0043234protein complexIDA
Function
IDNameEvidence
GO:0002039p53 bindingIPI
GO:0005515protein bindingIPI
GO:0008134transcription factor bindingIBA
GO:0034452dynactin bindingIPI
GO:0042802identical protein bindingIPI
GO:0045505dynein intermediate chain bindingIDA
GO:0048487beta-tubulin bindingIDA
GO:0050809diazepam bindingIEA
GeneCards HTT
PDB 4FED, 3IO4, 2D3X, 3IOU, 3IOV, 2LD2, 3IOW, 4FEB, 3IOT, 3IOR, 4FE8, 3LRH, 4FEC, 2LD0, 3IO6
UniProt P42858
Vega OTTHUMG00000159916
MIM 613004
Ensembl ENSG00000197386
HGNC 4851
HPRD 00883

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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