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HTT Gene

protein-coding GIFtS: 60

GC04P003046

huntingtin
(Previous name: huntingtin (Huntington disease) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: HD)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
HD ^², ³
IT15 ^¹, ², ³
OCD1 ^⁵
SLC6A4 ^⁵
huntingtin ^²

Descriptions
HD protein ^³
Huntington disease protein ^³
huntingtin (Huntington disease) ^¹

External Ids
HGNC: 4851¹
Entrez Gene: 3064²
UniProtKB: P42858³
Ensembl: ENSG00000197386⁷

Search outside databases for aliases for HTT gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for HTT:

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]

UniProtKB/Swiss-Prot: HD_HUMAN, P42858

Function: May play a role in microtubule-mediated transport or vesicle function

Gene Wiki entry for HTT (Huntingtin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3

HTT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P003046: (about GC identifiers)

Start:	3,046,206 bp from pter
End:	3,215,485 bp from pter
Size:	169,280 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000004.10 NT_006081.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: HD_HUMAN, P42858 (See protein sequence)

Recommended Name: Huntingtin

Size: 3144 amino acids; 347860 Da

Subunit: Binds SH3GLB1 (By similarity). Interacts through its N-terminus with PRPF40A. Interacts

with PQBP1, SETD2 and SYVN

Subcellular location: Cytoplasm. Nucleus

PDB structures from and Proteopedia :

2D3X (3D)

Secondary accessions: Q9UQB7

Post-translational modifications:

Cleaved by apopain downstream of the polyglutamine stretch. The resulting amino-terminal fragment

is cytotoxic and provokes apoptosis¹

Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes

their proteasomal degradation¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_002102.4

ENSEMBL proteins:

ENSP00000347184

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Huntingtin)
	Human Recombinant Proteins from Abnova (HD)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/7 Gene Ontology (GO) cellular component terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	TAS	7568002
GO:0005634	nucleus	TAS	9778247
GO:0005737	cytoplasm	TAS	7568002
GO:0005794	Golgi apparatus	IDA	15837803
GO:0016023	cytoplasmic membrane-bounded vesicle	IEA	--

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Antibodies for HTT:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of HTT
	Sigma-Aldrich Antibodies for HTT
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for HTT (Huntingtin)
	Antibodies from Abcam (Huntingtin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HD)
	Novus Biologicals Antibodies for HTT

Assays for HTT:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P42858

ProtoNet protein and cluster: P42858

1 Blocks protein family: IPB000091 Huntingtin signature

UniProtKB/Swiss-Prot: HD_HUMAN, P42858

Similarity: Belongs to the huntingtin family

Similarity: Contains 10 HEAT repeats

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HTT)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HD)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002111

Applied Biosystems Silencer® siRNAs for HTT

Sigma-Aldrich siRNA and siRNA Panels for HTT

Sigma-Aldrich shRNA Panels and shRNA for HTT

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_002111
Myc/DDK tagged cDNA clone in CMV expression vector: NM_002111
untagged cDNA clones in CMV expression vector (see all 2): NM_002111

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_002111

UniProtKB/Swiss-Prot: HD_HUMAN, P42858

Function: May play a role in microtubule-mediated transport or vesicle function

15/19 MGI mutant phenotypes (inferred from 27 alleles) (MGI details for Htt) (see all 19 ):

	behavior/neurological	cellular	craniofacial	embryogenesis
endocrine/exocrine gland	growth/size	hearing/vestibular/ear	homeostasis/metabolism	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system	no phenotypic analysis	normal

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003714	transcription corepressor activity	TAS	10823891
GO:0005215	transporter activity	TAS	7568002
GO:0005246	calcium channel regulator activity	IEA	--
GO:0005515	protein binding	IPI	7477378
GO:0008017	microtubule binding	TAS	7568002

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for HTT (Your Favorite Gene powered by Ingenuity)

Huntington's Disease Signaling

GeneDecks HTT for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for HTT

5/31 Interacting proteins for HTT (P42858^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 31 )
Interactant Interaction Details
GeneCard External ID(s)
GIT1 Q9Y2X7¹^,² EBI-466029, EBI-466061 MINT-3375386 MINT-3978248 MINT-3978048 MINT-3981338 MINT-3375526 MINT-3375694 MINT-3375713 MINT-3375598 EBI-466029, EBI-466061 MINT-3375386 MINT-3978248 MINT-3978048 MINT-3981338 MINT-3375526 MINT-3375694 MINT-3375713 MINT-3375598
IKBKAP O95163¹^,² EBI-466029, EBI-347559 MINT-3978299 MINT-3977926 MINT-3978214 MINT-3981402 EBI-466029, EBI-347559 MINT-3978299 MINT-3977926 MINT-3978214 MINT-3981402
MED31 Q9Y3C7¹^,² EBI-466029, EBI-394707 MINT-3978467 MINT-3981290 MINT-3978082 MINT-3978588 EBI-466029, EBI-394707 MINT-3978467 MINT-3981290 MINT-3978082 MINT-3978588
PFN2 P35080¹^,² EBI-466029, EBI-473138 MINT-3978429 MINT-3977994 MINT-3981434 MINT-3978554 EBI-466029, EBI-473138 MINT-3978429 MINT-3977994 MINT-3981434 MINT-3978554
CHD3 Q12873¹^,² EBI-466029, EBI-523590 MINT-3977909 MINT-3981354 MINT-3978282 EBI-466029, EBI-523590 MINT-3977909 MINT-3981354 MINT-3978282
About this table
5/42 Gene Ontology (GO) biological process terms (links to tree view) (see all 42 ):
GO ID Qualified GO term Evidence PubMed IDs
GO:0000050 urea cycle IEA --
GO:0000052 citrulline metabolic process IEA --
GO:0006606 protein import into nucleus IEA --
GO:0006888 ER to Golgi vesicle-mediated transport IEA --
GO:0006916 anti-apoptosis IEA --
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HTT
10/27 Novoseek chemical compound relationships for HTT gene (see all 27 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
it 15	97.94	209	7847863 (11), 7820679 (7), 7581375 (7), 9324583 (6) (see all 99)
quinolinic acid	57.41	8	12009780 (1), 7662891 (1), 18424161 (1), 16417581 (1)
glyceraldehyde 3-phosphate	25.70	4	9202321 (1), 17989880 (1), 9587422 (1), 11466559 (1)
cystamine	25.21	1	15715085 (1)
proline	14.63	14	17989880 (3), 18768695 (2), 17945257 (1)
cystathionine	5.87	1	9466992 (1)
lipid	5.08	5	19124532 (1), 16085648 (1), 12873381 (1), 14657499 (1)
glucose	4.66	21	10516137 (6), 12700167 (4), 12589027 (2)
trehalose	4.23	1	17182613 (1)
copper	4.12	3	17396163 (3)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HTT)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HD)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002111

Sigma-Aldrich siRNA and siRNA Panels for HTT

Sigma-Aldrich shRNA Panels and shRNA for HTT

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_002111

REFSEQ mRNAs for HTT gene:

NM_002111.6

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_002111

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002111
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_002111
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_002111

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.209470 DT.448007 DT.121264560 DT.121264575

DT.91968387 DT.95322523 DT.97812982 DT.100777626 DT.121264532 DT.121264608 DT.40132703 DT.40254853

DT.92051710 DT.40206101

24/256 AceView cDNA sequences (see all 256 ):

AA427504 BE378835 AW590526 BE254060 BC014028 AB016794 AA430683 BM713427

BQ897757 AA890643 AL601462 CF141045 BM702908 BE773256 BQ006273 AA454612

BM705565 AK025918 D44898 BM705434 CB216262 BU553023 CO396448 BP364546

Unigene Cluster for HTT:

Huntingtin

Hs.518450 [show with all ESTs]

Unigene Representative Sequence: NM_002111

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000355072

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HTT expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HTT

¹ / ²

5 probe-sets matching HTT gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37767_at²	U95-A	2	1.00	0.97	1.00	1.00	--	--	--	--	--
202389_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
202390_s_at²	U133-A	1	1.00	1.00	--	--	--	--	--	--	--
202389_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
202390_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks HTT for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGCCTGTCAC

SOURCE GeneReport for Unigene cluster: Hs.518450
UniProtKB/Swiss-Prot: HD_HUMAN, P42858
Tissue specificity: Widely expressed with the highest level of expression in the brain (nerve
fibers, varicosities, and nerve endings). In the brain, the regions where it can be mainly found
are the cerebellar cortex, the neocortex, the striatum, and the hippocampal formation

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HTT gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SLC6A4¹	--	solute carrier family 6 (neurotransmitter transporter, more	87.31(n) 91.99(a)	479074 XM_536221.2 XP_536221.2
chimpanzee (Pan troglodytes)	SLC6A4¹	--	solute carrier family 6 (neurotransmitter transporter, more	98.56(n) 98.63(a)	461084 XM_517080.2 XP_517080.2
cow (Bos taurus)	HTT¹	--	huntingtin	84.31(n) 89.47(a)	615059 XM_866758.2 XP_871851.2
rat (Rattus norvegicus)	Htt¹	--	huntingtin	86.12(n) 91.28(a)	29424 XM_573634.2 XP_573634.1
mouse (Mus musculus)	Htt^{1, 5}	5 (20.00 cM)⁵	huntingtin^{1, 5}	86.37(n)¹ 91.25(a)¹	15194¹ NM_010414.1¹ NP_034544.1¹ AI256365⁵ AK042204⁵ (see all 19)

About this table Species with no ortholog for HTT

ENSEMBL Gene Tree for HTT

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: HD_HUMAN, P42858

Polymorphism: The poly-Gln region of HTT is highly polymorphic (10 to 35 repeats) in the normal

population and is expanded to about 36-120 repeats in Huntington disease patients. The repeat

length usually increases in successive generations, but contracts also on occasion. The adjacent

poly-Pro region is also polymorphic and varies between 7-12 residues. Polyglutamine expansion

leads to elevated susceptibility to apopain cleavage and likely result in accelerated neuronal

apoptosis

10/971 NCBI SNPs in HTT are shown (see all 971 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 465)

AB	SNP ID	Valid	Chr 4 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs362303^1,2	A,C,F,H,O	3212105(-)	`GTGCCG/AGGTGT`	1	--	ut3¹ ese³		5	MN EU EA WA	602
	rs3025837^1,2	A,C,F,H,O	3144643(-)	`GTCGTT/GCTCCT`	1	H/N	mis¹		12	NA EU EA WA	1058
	rs362331^1,2	A,C,F,H,O	3185633(+)	`TCATCC/TACTGT`	1	Y/H	mis¹ ese³		16	MN EU EA WA NA	2856
	rs362302^1,2	C,F,H,O	3212718(-)	`TGACCG/AAGAGA`	1	--	ut3¹ ese³		8	MN NA EU EA WA	738
	rs762855^1,2	A,C,F,H	3044593(-)	`ACAGCT/CGTTAG`	1	--	ng5¹		10	EU EA WA MN NA	901
	rs363125^1,2	C,F,H,O	3159345(-)	`TTGAAG/TTACTG`	1	T/N	mis¹ ese³		17	MN NA EU EA WA	1650
	rs362306^1,2	A,C,F,H	3211898(-)	`AGCTGC/TAACCT`	1	--	ut3¹ ese³		8	EA MN EU WA NA	2234
	rs362304^1,2	A,C,F	3212070(-)	`GCACAG/TGCCAT`	1	--	ut3¹ ese³		1	MN	184
	rs363075^1,2	C,F,H	3107472(-)	`AGCCCC/TTCTGT`	1	G/R	mis¹ ese³		12	EU EA WA	1244
	rs362307^1,2	A,C,F	3211643(-)	`AGGGCG/ACAGAC`	1	--	ut3¹ ese³		1	MN	184

About this table

HapMap Linkage Disequilibrium images for HTT (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 182138 disorders: 607834 164230

UniProtKB/Swiss-Prot: HD_HUMAN, P42858

Defects in HTT are the cause of Huntington disease (HD) [MIM:143100]. HD is an autosomal

dominant neurodegenerative disorder characterized by involuntary movements (chorea), general motor

impairment, psychiatric disorders and dementia. Onset of the disease occurs usually in the third

or fourth decade of life and symptoms progressively worsen leading to death in 10 to 20 years.

Onset and clinical course depend on the degree of poly-Gln repeat expansion, longer expansions

resulting in earlier onset and more severe clinical manifestations. HD affects 1 in 10,000

individuals of European origin. Neuropathology of Huntington disease displays a distinctive

pattern with loss of neurons, especially in the caudate and putamen (striatum)

10/40 Novoseek disease relationships for HTT gene (see all 40 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
huntington disease	98.16	604	15359012 (5), 19203385 (4), 8774958 (4), 16181417 (3) (see all 99)
neurodegenerative diseases	89.29	124	17550941 (2), 16040812 (2), 7618107 (1), 9489526 (1) (see all 89)
neurodegeneration	81.24	80	15359012 (3), 16777606 (3), 9778247 (3), 12223539 (3) (see all 50)
drpla	71.99	9	8612237 (2), 10085113 (1), 18072201 (1), 9587422 (1) (see all 7)
spinobulbar muscular atrophy	69.75	1	10639135 (1)
neuropathology	67.86	15	9700202 (1), 12354780 (1), 15359012 (1), 8275091 (1) (see all 14)
hd adult	64.13	4	11245667 (1), 9536080 (1)
machado-joseph disease	55.72	4	16973207 (1), 11356158 (1), 19412185 (1)
brain diseases	51.32	11	11738471 (2), 10377424 (1), 12354780 (1), 15965106 (1) (see all 9)
neurological disorders	48.08	10	11709539 (2), 10970063 (1), 17712222 (1), 11719264 (1) (see all 8)

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GeneTests: HTT

Huntington Disease

Human Gene Mutation Database: HTT
Human Genome Epidemiology Navigator: HTT (827 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/679 PubMed articles for HTT gene (see all 679 ):

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. (PubMed id 8458085)^{1, 2, 3, 4} Macdonald M.... Harper P.S. (1993)
Huntingtin contains a highly conserved nuclear export signal. (PubMed id 12783847)^{1, 3, 4} 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, 3, 4} Ambrose C.M.... Macdonald M.E. (1994)
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. (PubMed id 8696339)^{1, 3, 4} Goldberg Y.P.... Hayden M.R. (1996)
Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)^{1, 3, 4} Faber P.W....MacDonald M.E. (1998)
Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin. (PubMed id 17141218)^{3, 4} Yang H.... Fang S. (2007)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{3, 4} Hillier L.W....Wilson R.K. (2005)
Identification of the full-length huntingtin- interacting protein p231HBP/HYPB as a DNA-binding factor. (PubMed id 11461154)^{3, 4} Rega S....Putzer B.M. (2001)
Identification and characterization of the miniature pig Huntington's disease gene homolog: evidence for conservation and polymorphism in the CAG triplet repeat. (PubMed id 11013077)^{3, 4} Matsuyama N.... Ikeda J.-E. (2000)
Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis. (PubMed id 10958656)^{3, 4} Passani L.A.... MacDonald M.E. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 3064	HGNC: 4851	AceView: HD	Ensembl:ENSG00000197386	euGenes: HUgn3064
ECgene: HTT	H-InvDB: HTT

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=HTT
Wikipedia	http://en.wikipedia.org/wiki/Huntingtin

Licensable Technologies for HTT
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for HTT:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HTT-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for HTT		Antibodies for HTT
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for HTT		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (HD)
	Antibodies (HD)
	Chimera RNAi (HD)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for HTT (Huntingtin)

	Recombinant Proteins (Huntingtin)
	Antibodies (Huntingtin)

Search OriGene for HTT

Search Tocris compounds for HTT

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for HTT

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
HTT Gene at Home site.
Version 2.41.1
server5.xennexinc.com

HTT Gene

protein-coding GIFtS: 60

Aliases &
Descriptions
for HTT

Summaries
for HTT

Genomic Location
for HTT

Proteins
for HTT

Protein Domains/
Families
for HTT

Gene Function
for HTT

Pathways & Interactions
for HTT

Drugs & Compounds
for HTT

Transcripts
for HTT

Expression
for HTT

Orthologs
for HTT

Paralogs
for HTT

SNPs/Variants
for HTT

Disorders & Mutations
for HTT

Medical News
for HTT

Publications
for HTT

Search for HTT

Genome Databases showing HTT

Other Databases showing HTT

Specialized Databases showing HTT

Licensable Technologies
for HTT

Services
for HTT

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HTT Gene

protein-coding GIFtS: 60

Aliases & Descriptionsfor HTT

Summariesfor HTT

Genomic Locationfor HTT

Proteinsfor HTT

Protein Domains/Familiesfor HTT

Gene Functionfor HTT

Pathways & Interactionsfor HTT

Drugs & Compoundsfor HTT

Transcriptsfor HTT

Expression for HTT

Orthologsfor HTT

Paralogsfor HTT

SNPs/Variantsfor HTT

Disorders & Mutationsfor HTT

Medical Newsfor HTT

Publicationsfor HTT

Search for HTT

Genome Databases showing HTT

Other Databases showing HTT

Specialized Databases showing HTT

Licensable Technologiesfor HTT

Servicesfor HTT

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HTT

Summaries
for HTT

Genomic Location
for HTT

Proteins
for HTT

Protein Domains/
Families
for HTT

Gene Function
for HTT

Pathways & Interactions
for HTT

Drugs & Compounds
for HTT

Transcripts
for HTT

Expression
for HTT

Orthologs
for HTT

Paralogs
for HTT

SNPs/Variants
for HTT

Disorders & Mutations
for HTT

Medical News
for HTT

Publications
for HTT

Licensable Technologies
for HTT

Services
for HTT