HTT Gene
protein-coding GIFtS: 61
GCID: GC04P003076
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huntingtin(Previous name: huntingtin (Huntington disease) )
(Previous symbol: HD)
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Aliases
for HTT gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Huntingtin1 | | HD1 2 3 5 | | IT151 2 3 5 | | Huntington Disease Protein2 3 | | Huntingtin (Huntington Disease)1 | | HD Protein3 |
Export aliases for HTT gene to outside databasesPrevious GC identifers: GC04P003046 GC04P003014 |
Summaries
for HTT gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HTT:
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss ofstriatal 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 trinucleotiderepeats has been identified in normal controls, and repeat numbers in excess of 40 have been described aspathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widelyexpressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displayingdifferent relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and isexpressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is morewidely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, butmay confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associatedprotein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutaminerepeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtingene product through translational repression. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: HD_HUMAN, P42858Function: May play a role in microtubule-mediated transport or vesicle function
Gene Wiki entry for HTT (Huntingtin)
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Genomic Views
for HTT gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000004.11 NC_018915.1 NT_006051.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HTT gene promoter:
STAT1 Sp1 AP-1 ATF-2 STAT1beta c-Jun STAT1alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for HTT
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HTT |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3HTT Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P003076: view genomic region
(about GC identifiers)
Start:
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3,076,408 bp from pter |
End:
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3,245,687 bp from pter |
Size:
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169,280 bases |
Orientation:
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plus strand |
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Proteins
for HTT gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HD_HUMAN, P42858 (See
protein sequence)Recommended Name: Huntingtin Size: 3142 amino acids; 347603 Da
Subunit: Binds SH3GLB1 (By similarity). Interacts through its N-terminus with PRPF40A. Interacts with PQBP1, SETD2 andSYVN. Interacts with PFN1
Subcellular location: Cytoplasm. Nucleus. Note=The mutant Huntingtin protein colocalizes with AKAP8L in the nuclearmatrix of Huntington disease neurons
6/11 PDB 3D structures from  and Proteopedia  for HTT (see all 11):2D3X (3D)
2LD0 (3D)
2LD2 (3D)
3IO4 (3D)
3IO6 (3D)
3IOR (3D)
Secondary accessions: Q9UQB7Explore the universe of human proteins at neXtProt for HTT: NX_P42858
Post-translational modifications:
Cleaved by apopain downstream of the polyglutamine stretch. The resulting N-terminal fragment is cytotoxic and provokesapoptosis1
Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomaldegradation1
Phosphorylation at Ser-1179 and Ser-1199 by CDK5 in response to DNA damage in nuclei of neurons protects neuronsagainst polyglutamine expansion as well as DNA damage mediated toxicity1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P42858
HTT Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_002102.4
ENSEMBL proteins: ENSP00000347184 ENSP00000425743
Human Recombinant Protein Products:
Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15): About this table
HTT for ontologies About GeneDecksing
HTT Antibody Products:
Assay Products for HTT: |
Protein
Domains /
Families
for HTT gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HTT for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P42858ProtoNet protein and cluster: P42858 1 Blocks protein family: IPB000091 Huntingtin signature
UniProtKB/Swiss-Prot: HD_HUMAN, P42858Domain: The N-terminal Gln-rich and Pro-rich domain has great conformational flexibility and is likely to exist in afluctuating equilibrium of alpha-helical, random coil, and extended conformationsSimilarity: Belongs to the huntingtin familySimilarity: Contains 5 HEAT repeats |
Function
for HTT gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HD_HUMAN, P42858Function: May play a role in microtubule-mediated transport or vesicle function
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HTT (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HTT (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HTT (NM_002111) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HTT | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTT |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTT |
Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table
HTT for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for HTT: Htttm3Detl Htttm1Szi Htttm4Szi Htttm5Szi Htttm1Mem Htttm1Hay
15/17 MGI mutant phenotypes (inferred from 34 alleles ) (MGI details for Htt) (see all 17):
HTT for phenotypes About GeneDecksing
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Pathways & Interactions
for HTT gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
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Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | PI3K / Akt Signaling | | | 3 | EGFR1 Signaling Pathway | | | 4 | Direct p53 effectors | | | 5 | Selected targets of p53 | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 EMD Millipore Pathway for HTT
2 
Cell Signaling Technology (CST) Pathways for HTT
2  BioSystems Pathways for HTT
1 
Kegg Pathway (Kegg details for HTT):
HTT for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HTT
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/176 Interacting proteins for HTT (P428581, 2, 3 ENSP000003471844) via UniProtKB, MINT, STRING, and/or I2D (see all 176)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| PRPF40A | O754001, 2, 3 | EBI-466029,EBI-473291 MINT-3978265 MINT-3978367 MINT-7101607 MINT-3977892 MINT-7101726 MINT-7101739 MINT-7102030 MINT-7101687 MINT-7101642 MINT-7101453 MINT-7101586 MINT-7101713 I2D:
score=5 | | SH3GL3 | Q999631, 2, 3, ENSP000003913724 | EBI-466029,EBI-473910 MINT-7101514 MINT-7101421 MINT-3978011 MINT-7101561 MINT-3978450 MINT-7101535 MINT-7101548 MINT-3978571 I2D:
score=5 STRING: ENSP00000391372 | | GIT1 | Q9Y2X71, 2, 3, ENSP000003783384 | EBI-466029,EBI-466061 MINT-3375386 MINT-3978248 MINT-3978048 MINT-3981338 MINT-3375526 MINT-3375694 MINT-3375713 MINT-3375598 I2D:
score=5 STRING: ENSP00000378338 | | MED31 | Q9Y3C71, 2, 3, ENSP000002257284 | EBI-466029,EBI-394707 MINT-3978467 MINT-3981290 MINT-3978082 MINT-3978588 I2D:
score=4 STRING: ENSP00000225728 | | PFN2 | P350801, 2, 3, ENSP000002399404 | EBI-466029,EBI-473138 MINT-3978429 MINT-3977994 MINT-3981434 MINT-3978554 I2D:
score=4 STRING: ENSP00000239940 |
About this table
Gene Ontology (GO): 5/54 biological process terms (GO ID links to tree view) (see all 54): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000050 | urea cycle |
IEA | -- | | GO:0000052 | citrulline metabolic process |
IEA | -- | | GO:0000132 | establishment of mitotic spindle orientation |
IMP | -- | | GO:0006606 | protein import into nucleus |
IEA | -- | | GO:0006839 | mitochondrial transport |
-- | -- |
HTT for ontologies About GeneDecksing
|
Drugs & Compounds
for HTT gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HTT for compounds About GeneDecksing
 Browse Tocris compounds for HTT
10/53 Novoseek chemical compound relationships for HTT gene (see all 53) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| it 15 |
97.8 |
214 |
7847863 (11), 7820679 (7), 7581375 (7), 9324583 (6) (see all 99) |
| glutamine |
93 |
537 |
10801775 (5), 9660943 (5), 10410676 (5), 20126661 (4) (see all 99) |
| 3-nitropropionic acid |
67.8 |
8 |
17708681 (2), 8858182 (1), 17455294 (1) |
| quinolinic acid |
60.7 |
8 |
12009780 (1), 7662891 (1), 18424161 (1), 16417581 (1) |
| rapamycin |
34.3 |
10 |
18418060 (3), 17986868 (1), 18644437 (1), 16973207 (1) (see all 8) |
| nmda |
31.8 |
48 |
11319238 (5), 12810713 (4), 10217265 (3), 18221365 (3) (see all 15) |
| glutamate |
25.6 |
9 |
11319238 (4), 19686238 (1), 16984809 (1), 17018562 (1) (see all 5) |
| proline |
24.4 |
14 |
17989880 (3), 18768695 (2), 17945257 (1) |
| glyceraldehyde 3-phosphate |
23.3 |
4 |
9202321 (1), 17989880 (1), 9587422 (1), 11466559 (1) |
| cystamine |
22.7 |
1 |
15715085 (1) |
Search CenterWatch for drugs/clinical trials and news about HTT / HD
|
Transcripts
for HTT gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HTT gene: NM_002111.6 Unigene Cluster for HTT: Huntingtin Hs.518450 [show with all ESTs]Unigene Representative Sequence: NM_00211113 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000355072(uc021xkv.1) ENST00000506137 ENST00000512909 ENST00000510626
ENST00000509618 ENST00000513639 ENST00000513326 ENST00000509043 ENST00000502820
ENST00000509751 ENST00000512068 ENST00000513806 ENST00000508321
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HTT (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HTT (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HTT (NM_002111) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HTT | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTT |
Additional cDNA sequence: AB016794.1 AK025918.1 AK290544.1 BC014028.2 L12392.1 L20431.1 18 DOTS entries: DT.456183 DT.100777629 DT.70105372 DT.118007 DT.121264560 DT.121264575 DT.91968387 DT.95322523 DT.97812982 DT.100777626 DT.121264532 DT.121264608 DT.209470 DT.448007 DT.92051710 DT.40132703 DT.40206101 DT.40254853 24/256 AceView cDNA sequences (see all 256): BE254060 F10939 AA890643 BU553023 AI673723 AA430683 AL601462 L12392 CA418418 AW207367 BE773256 BP364546 AA324155 CO396448 BE378835 AA962586 AI168473 AA970034 CB216262 BC014028 BM702908 BM713427 D44898 BM705565
GeneLoc Exon Structure
|
Expression
for HTT gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HTT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGCCTGTCAC
About this image
See HTT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HTT
SOURCE GeneReport for Unigene cluster: Hs.518450
UniProtKB/Swiss-Prot: HD_HUMAN, P42858Tissue specificity: Expressed in the brain cortex (at protein level). Widely expressed with the highest level ofexpression in the brain (nerve fibers, varicosities, and nerve endings). In the brain, the regions where it can bemainly found are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation
SABiosciences Expression via Pathway-Focused PCR Arrays including HTT:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HTT
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HTT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HTT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HTT | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTT |
Orthologs
for HTT gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for HTT gene from 5/19 species (see all 19) About this table
ENSEMBL Gene Tree for HTT (if available)
TreeFam Gene Tree for HTT (if available) |
Paralogs
for HTT gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HTT gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: HD_HUMAN, P42858Polymorphism: The poly-Gln region of HTT is highly polymorphic (10 to 35 repeats) in the normal population and isexpanded to about 36-120 repeats in Huntington disease patients. The repeat length usually increases in successivegenerations, but contracts also on occasion. The adjacent poly-Pro region is also polymorphic and varies between 7-12residues. Polyglutamine expansion leads to elevated susceptibility to apopain cleavage and likely result inaccelerated neuronal apoptosis
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HTT
1 Indel: 62156
Human Gene Mutation Database (HGMD): HTT
Locus Specific Mutation Databases (LSDB): HTT
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for HTT gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HTT for disorders About GeneDecksing
OMIM gene information: 613004
OMIM disorders: 143100
UniProtKB/Swiss-Prot: HD_HUMAN, P42858
Defects in HTT are the cause of Huntington disease (HD) [MIM:143100]. HD is an autosomal dominantneurodegenerative disorder characterized by involuntary movements (chorea), general motor impairment, psychiatricdisorders and dementia. Onset of the disease occurs usually in the third or fourth decade of life and symptomsprogressively worsen leading to death in 10 to 20 years. Onset and clinical course depend on the degree of poly-Glnrepeat expansion, longer expansions resulting in earlier onset and more severe clinical manifestations. HD affects 1in 10,000 individuals of European origin. Neuropathology of Huntington disease displays a distinctive pattern withloss of neurons, especially in the caudate and putamen (striatum)
20/57  diseases for HTT (see all 57): About MalaCardshuntington's disease spinal-bulbar muscular atrophy machado-joseph disease open-angle glaucoma
dentatorubral-pallidoluysian atrophy oculomotor apraxia huntington disease-like ataxia with oculomotor apraxia type 1
huntington disease-like 2 primary open angle glaucoma fragile x syndrome amyotrophic lateral sclerosis
benign hereditary chorea dermatofibrosarcoma protuberans spinocerebellar ataxia apraxia
muscular atrophy multiple system atrophy hereditary hemorrhagic telangiectasia striatal degeneration
6 diseases from the University of Copenhagen DISEASES database for HTT:Huntington's disease dentatorubral-pallidoluysian atrophy Kennedy's disease Toxic encephalopathy
Spinocerebellar ataxia Parkinson's disease 10/40 Novoseek disease relationships for HTT gene (see all 40) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| huntington disease |
98.2 |
702 |
15359012 (5), 19642201 (5), 19203385 (4), 8774958 (4) (see all 99) |
| neurodegenerative diseases |
89.5 |
147 |
17550941 (2), 16040812 (2), 7618107 (1), 9489526 (1) (see all 99) |
| neurodegeneration |
81.7 |
83 |
15359012 (3), 16777606 (3), 9778247 (3), 12223539 (3) (see all 52) |
| drpla |
72 |
9 |
8612237 (2), 10085113 (1), 18072201 (1), 9587422 (1) (see all 7) |
| spinobulbar muscular atrophy |
71.1 |
1 |
10639135 (1) |
| neuropathology |
68.8 |
15 |
9700202 (1), 12354780 (1), 15359012 (1), 8275091 (1) (see all 14) |
| hd adult |
62 |
4 |
11245667 (1), 9536080 (1) |
| machado-joseph disease |
59.2 |
5 |
16973207 (1), 19492089 (1), 11356158 (1), 19412185 (1) |
| brain diseases |
50.5 |
11 |
11738471 (2), 10377424 (1), 12354780 (1), 15965106 (1) (see all 9) |
| spinocerebellar ataxias |
47.2 |
1 |
7774118 (1) |
GeneTests: HTT
Huntington Disease
Human Genome Epidemiology (HuGE) Navigator: HTT (1197 documents)
Export disorders for HTT gene to outside databases
|
Publications
for HTT gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HTT gene, integrated from 9 sources (see all 893):
(articles sorted by number of sources associating them with HTT) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (PubMed id 8458085)1, 2, 3, 9 Macdonald M.... Harper P.S. (1993)
- Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons. (PubMed id 17611284)1, 2, 9 Anne S.L....Humbert S. (2007)
- Huntingtin contains a highly conserved nuclear export signal. (PubMed id 12783847)1, 2, 9 Xia J.... Truant R. (2003)
- Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat. (PubMed id 8197474)1, 2, 9 Ambrose C.M.... Macdonald M.E. (1994)
- Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin. (PubMed id 17141218)1, 2, 9 Yang H.... Fang S. (2007)
- Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis. (PubMed id 16391387)1, 2, 9 Sayer J.A....Coghlan V.M. (2005)
- Secondary structure of Huntingtin amino-terminal regi on. (PubMed id 19748341)1, 2, 9 Kim M.W....Bezprozvanny I. (2009)
- Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)1, 2, 9 Faber P.W....MacDonald M.E. (1998)
- Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. (PubMed id 8696339)1, 2, 9 Goldberg Y.P.... Hayden M.R. (1996)
- Mass spectrometric identification of novel lysine acetylation sites in huntingtin. (PubMed id 21685499)1, 2 Cong X.... Ellerby L.M. (2011)
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External Searches for HTT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing HTT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing HTT gene
(According to HUGE)
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Specialized Databases showing HTT gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HTT | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HTT | | Wikipedia | http://en.wikipedia.org/wiki/Huntingtin |
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About This Section
| Patent Information for HTT gene:
Search GeneIP for patents involving HTT
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for HTT gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for HTT | | OriGene shRNA RFP for HTT | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HTT | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HTT | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HTT | | OriGene 3'-UTR Clone for HTT | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HTT | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HTT | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HTT | | OriGene Custom Protein Services for HTT | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HTT | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HTT | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HTT | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HTT | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HTT | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HTT |
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| | Antibodies & Assays for HTT (Huntingtin) |
| | | | Search Tocris compounds for HTT |
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 | | | HTT Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTT |
|  |  |  | | | | ThermoFisher Antibody for HTT |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTT |
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