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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HTT Gene

protein-coding   GIFtS: 62
GCID: GC04P003076

Huntingtin

(Previous name: huntingtin (Huntington disease))
(Previous symbol: HD)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
huntingtin1 2
HD1 2 3 5
IT152 3 5
Huntington Disease Protein2 3
Huntingtin (Huntington Disease)1
HD Protein3

External Ids:    HGNC: 48511   Entrez Gene: 30642   Ensembl: ENSG000001973867   OMIM: 6130045   UniProtKB: P428583   

Export aliases for HTT gene to outside databases

Previous GC identifers: GC04P003046 GC04P003014


(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 Gene:
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)

GeneCards Summary for HTT Gene: 
HTT (huntingtin) is a protein-coding gene. Diseases associated with HTT include huntington's disease, and slc6a4-related behavior disorders, and among its related super-pathways are Parkinson's disease. GO annotations related to this gene include transcription factor binding and beta-tubulin binding.

UniProtKB/Swiss-Prot: HD_HUMAN, P42858
Function: May play a role in microtubule-mediated transport or vesicle function

Gene Wiki entry for HTT (Huntingtin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006051.18  NC_018915.2  
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

SwitchGear Promoter luciferase reporter plasmids (see all 2): HTT promoter sequence
   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: 4p16.3

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P003076:  view genomic region     (about GC identifiers)

Start:
3,076,408 bp from pter      End:
3,245,687 bp from pter
Size:
169,280 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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
and SYVN. Interacts with PFN1. Interacts with TPR; the interaction is inhibited by forms of Huntingtin with
expanded polyglutamine stretch
Subcellular location: Cytoplasm. Nucleus. Note=The mutant Huntingtin protein colocalizes with AKAP8L in the
nuclear matrix of Huntington disease neurons. Shuttles between cytoplasm and nucleus in a Ran GTPase-independent
manner
6/15 PDB 3D structures from and Proteopedia for HTT (see all 15):
2D3X (3D)        2LD0 (3D)        2LD2 (3D)        3IO4 (3D)        3IO6 (3D)        3IOR (3D)    
Secondary accessions: Q9UQB7

Explore the universe of human proteins at neXtProt for HTT: NX_P42858

Explore proteomics data for HTT at MOPED 

Post-translational modifications:

  • UniProtKB: Cleaved by apopain downstream of the polyglutamine stretch. The resulting N-terminal fragment is cytotoxic and
    provokes apoptosis
  • UniProtKB: Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their
    proteasomal degradation
  • UniProtKB: Phosphorylation at Ser-1179 and Ser-1199 by CDK5 in response to DNA damage in nuclei of neurons protects neurons
    against polyglutamine expansion as well as DNA damage mediated toxicity
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P42858

  • HTT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HTT Protein Expression
    REFSEQ proteins: NP_002102.4  
    ENSEMBL proteins: 
     ENSP00000347184   ENSP00000425743  

    Human Recombinant Protein Products for HTT: 
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    Novus Biologicals HTT Proteins
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HTT 

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005770late endosome IDA17704510
    GO:0005776autophagic vacuole IDA17704510

    HTT for ontologies           About GeneDecksing



    HTT Antibody Products: 
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    Assay Products for HTT: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HTT 
    Cloud-Clone Corp. CLIAs for HTT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR000091 Huntingtin
     IPR016024 ARM-type_fold
     IPR024613 Huntingtin_middle-repeat

    Graphical View of Domain Structure for InterPro Entry P42858

    ProtoNet protein and cluster: P42858

    1 Blocks protein domain: IPB000091 Huntingtin signature

    UniProtKB/Swiss-Prot: HD_HUMAN, P42858
    Domain: The N-terminal Gln-rich and Pro-rich domain has great conformational flexibility and is likely to exist in
    a fluctuating equilibrium of alpha-helical, random coil, and extended conformations
    Similarity: Belongs to the huntingtin family
    Similarity: Contains 5 HEAT repeats


    HTT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HD_HUMAN, P42858
    Function: May play a role in microtubule-mediated transport or vesicle function

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding IPI10823891
    GO:0005488binding ----
    GO:0005515protein binding IPI10823891
    GO:0008134transcription factor binding IBA--
    GO:0034452dynactin binding IPI18922795
         
    HTT for ontologies           About GeneDecksing


    Phenotypes:
         15/17 MGI mutant phenotypes (inferred from 34 alleles(MGI details for Htt) (see all 17):
     behavior/neurological  cardiovascular system  cellular  craniofacial  embryogenesis 
     endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism  integument 
     mortality/aging  nervous system  no phenotypic analysis  normal  reproductive system 

    HTT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HTT: Htttm3Detl Htttm1Szi Htttm4Szi Htttm5Szi Htttm1Mem Htttm1Hay

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HTT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HTT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HTT 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HTT 

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    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HTT

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTT


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HTT About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Huntington's disease0.47
    2PI3K / Akt Signaling
    PI3K / Akt Signaling
    3Neuroscience
    Neuroscience
    4EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    5Direct p53 effectors
    Direct p53 effectors

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for HTT
        Selected targets of p53


    2 Cell Signaling Technology (CST) Pathways for HTT
        Neuroscience
    PI3K / Akt Signaling

    2 BioSystems Pathways for HTT
        EGFR1 Signaling Pathway
    Direct p53 effectors


    1         Kegg Pathway  (Kegg details for HTT):
        Huntington's disease


    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)

    5/184 Interacting proteins for HTT (P428581, 2, 3 ENSP000003471844) via UniProtKB, MINT, STRING, and/or I2D (see all 184)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF40AO754001, 2, 3EBI-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 
    SH3GL3Q999631, 2, 3, ENSP000003913724EBI-466029,EBI-473910 MINT-7101514 MINT-7101421 MINT-3978011 MINT-7101561 MINT-3978450 MINT-7101535 MINT-7101548 MINT-3978571 I2D: score=5 STRING: ENSP00000391372
    GIT1Q9Y2X71, 2, 3, ENSP000003783384EBI-466029,EBI-466061 MINT-3375386 MINT-3978248 MINT-3978048 MINT-3981338 MINT-3375526 MINT-3375694 MINT-3375713 MINT-3375598 I2D: score=5 STRING: ENSP00000378338
    MED31Q9Y3C71, 2, 3, ENSP000002257284EBI-466029,EBI-394707 MINT-3978467 MINT-3981290 MINT-3978082 MINT-3978588 I2D: score=4 STRING: ENSP00000225728
    PFN2P350801, 2, 3, ENSP000002399404EBI-466029,EBI-473138 MINT-3978429 MINT-3977994 MINT-3981434 MINT-3978554 I2D: score=4 STRING: ENSP00000239940
    About this table

    Gene Ontology (GO): 5/55 biological process terms (GO ID links to tree view) (see all 55):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle IEA--
    GO:0000052citrulline metabolic process IEA--
    GO:0000132establishment of mitotic spindle orientation IMP--
    GO:0006606protein import into nucleus IEA--
    GO:0006839mitochondrial transport ----

    HTT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HTT (HD)

    10/53 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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_002111
    13 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate HTT (see all 44):
    hsa-miR-1321 hsa-miR-128 hsa-miR-605 hsa-miR-30d hsa-miR-650 hsa-miR-29b-1* hsa-miR-570 hsa-miR-30a
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    Additional mRNA 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):

    AW207367 D44898 AA312139 AA962586 AA804264 BU189472 AA765319 NM_002111 
    BQ897757 BC014028 AA458536 F10939 BE254060 BP364546 BE773256 CD672890 
    AI673723 AA454612 BQ424053 BM702908 AA427504 AW090816 L12392 BQ006273 

    GeneLoc Exon Structure


    (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 <intensity>2/3
    CGAP TAG: TGCCTGTCAC
    HTT Expression
    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, P42858
    Tissue specificity: Expressed in the brain cortex (at protein level). 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

        SABiosciences Expression via Pathway-Focused PCR Arrays including HTT: 
              Polycomb & Trithorax Complexes in human mouse rat
              Autophagy in human mouse rat
              Huntington's Disease in human mouse rat
              Apoptosis 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HTT

    (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 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Htt1 , 5 huntingtin1, 5 86.37(n)1
    91.25(a)1
      5 (17.92 cM)5
    151941  NM_010414.21  NP_034544.11 
     347617405 
    chicken
    (Gallus gallus)
    Aves HTT1 huntingtin 75.52(n)
    84.44(a)
      422878  XM_420822.3  XP_420822.3 
    lizard
    (Anolis carolinensis)
    Reptilia HTT6
    --
    --
    86(a)
    78(a)
    1 ↔ 1
    possible ortholog
    GL343236.1(2328794-2336537)
    5(80089437-80183478)
    zebrafish
    (Danio rerio)
    Actinopterygii hd2 huntingtin 75.33(n)   30214  AF052602.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta htt6
    huntingtin
    17(a)
    1 ↔ 1
    3R(24521964-24560073)


    ENSEMBL Gene Tree for HTT (if available)
    TreeFam Gene Tree for HTT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HTT gene
    1 SIMAP similar gene for HTT using alignment to 2 protein entries:     HD_HUMAN (see all proteins):
    HD

    HTT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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, 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


    10/3883 SNPs in HTT are shown (see all 3883)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3868681,2
    C,H--3014269(-) gagggG/Ttgggg 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs119333871,2
    H--3014339(+) CCTGCA/CTAATG 1 -- us2k10--------
    rs1496245231,2
    --3014439(+) GCCCCC/TACCTC 1 -- us2k10--------
    rs1926412801,2
    --3014487(+) ACGCCC/TCCCTT 1 -- us2k10--------
    rs131291121,2
    C--3015269(+) CCAGGA/CTACGG 1 -- int10--------
    rs2008735281,2
    C--3021686(+) CATTTC/TTTTTT 1 -- int10--------
    rs1124188371,2
    F--3023693(+) ACACAC/TACACA 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs3750652591,2
    C--3049195(+) AAAAA-/TATATATA 1 -- int10--------
    rs611017851,2
    C,F--3054282(+) ATTCCA/CTCACC 1 -- us2k12Minor allele frequency- C:0.08WA 120
    rs578123851,2
    C,F--3054564(+) GCAACC/TTCCAC 1 -- us2k11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for HTT (3076408 - 3245687 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/12 variations for HTT (see all 12):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2726870CNV Deletion23290073
    esv2667257CNV Deletion23128226
    esv2726869CNV Deletion23290073
    nsv878456CNV Loss21882294
    nsv524211CNV Loss19592680
    nsv878457CNV Loss21882294
    nsv470003CNV Loss18288195
    nsv878455CNV Loss21882294
    nsv461164CNV Loss19166990
    esv8475CNV Loss19470904


    Human Gene Mutation Database (HGMD): HTT

    Locus Specific Mutation Databases (LSDB): HTT
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HTT
    DNA2.0 Custom Variant and Variant Library Synthesis for HTT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613004   
    OMIM disorders: 143100  
    UniProtKB/Swiss-Prot: HD_HUMAN, P42858
  • Huntington disease (HD) [MIM:143100]: A 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. Onset and clinical course depend on the degree of poly-Gln repeat expansion,
    longer expansions resulting in earlier onset and more severe clinical manifestations. Neuropathology of
    Huntington disease displays a distinctive pattern with loss of neurons, especially in the caudate and putamen.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/53 diseases for HTT (see all 53):    About MalaCards
    huntington's disease    slc6a4-related behavior disorders    huntington disease-like 2    huntington disease-like syndrome
    ataxia with oculomotor apraxia type 1    apraxia    benign hereditary chorea    alexander disease
    fragile x syndrome    kennedy's disease    chorea    spinal-bulbar muscular atrophy
    tauopathy    dentatorubral-pallidoluysian atrophy    machado-joseph disease    dermatofibrosarcoma protuberans
    multiple system atrophy    hereditary hemorrhagic telangiectasia    dermatofibrosarcoma    chronic myelomonocytic leukemia

    5 diseases from the University of Copenhagen DISEASES database for HTT:
    Huntington's disease     dentatorubral-pallidoluysian atrophy     Toxic encephalopathy     Spinocerebellar ataxia
    Motor neuron disease

    HTT for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/40 Novoseek inferred 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
    GeneReviews: HTT
    Genetic Association Database (GAD): HTT
    Human Genome Epidemiology (HuGE) Navigator: HTT (1197 documents)

    Export disorders for HTT gene to outside databases

    (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 914):
    (articles sorted by number of sources associating them with HTT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Huntingtin contains a highly conserved nuclear export signal. (PubMed id 12783847)1, 2, 9 Xia J.... Truant R. (2003)
    4. 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)
    5. 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)
    6. 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)
    7. Normal and mutant HTT interact to affect clinical sev erity and progression in Huntington disease. (PubMed id 19776381)1, 4, 9 Aziz N.A....Landwehrmeyer G.B. (2009)
    8. Secondary structure of Huntingtin amino-terminal regi on. (PubMed id 19748341)1, 2, 9 Kim M.W....Bezprozvanny I. (2009)
    9. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. (PubMed id 18649400)1, 4, 9 McNicoll C.F....Myers R.H. (2008)
    10. Huntingtin interacts with a family of WW domain proteins. (PubMed id 9700202)1, 2, 9 Faber P.W....MacDonald M.E. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3064 HGNC: 4851 AceView: HD Ensembl:ENSG00000197386 euGenes: HUgn3064
    ECgene: HTT Kegg: 3064 H-InvDB: HTT

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for HTT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HTT
    Wikipedia http://en.wikipedia.org/wiki/Huntingtin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    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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