Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

HTT (huntingtin)

Identity

Other namesHD
IT15
HGNC (Hugo) HTT
LocusID (NCBI) 3064
Location 4p16.3
Location_base_pair Starts at 3076408 and ends at 3245687 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)HTT   4851
Cards
Entrez_Gene (NCBI)HTT  3064  huntingtin
GeneCards (Weizmann)HTT
Ensembl (Hinxton)ENSG00000197386 [Gene_View]  chr4:3076408-3245687 [Contig_View]  HTT [Vega]
ICGC DataPortalENSG00000197386
cBioPortalHTT
AceView (NCBI)HTT
Genatlas (Paris)HTT
WikiGenes3064
SOURCE (Princeton)NM_002111
Genomic and cartography
GoldenPath (UCSC)HTT  -  4p16.3   chr4:3076408-3245687 +  4p16.3   [Description]    (hg19-Feb_2009)
EnsemblHTT - 4p16.3 [CytoView]
Mapping of homologs : NCBIHTT [Mapview]
OMIM143100   613004   
Gene and transcription
Genbank (Entrez)AB016794 AB209506 AK025918 AK290544 BC014028
RefSeq transcript (Entrez)NM_002111
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NG_009378 NT_006051 NW_001838896 NW_004929314
Consensus coding sequences : CCDS (NCBI)HTT
Cluster EST : UnigeneHs.518450 [ NCBI ]
CGAP (NCI)Hs.518450
Alternative Splicing : Fast-db (Paris)GSHG0022419
Alternative Splicing GalleryENSG00000197386
Gene ExpressionHTT [ NCBI-GEO ]     HTT [ SEEK ]   HTT [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP42858 (Uniprot)
NextProtP42858  [Medical]
With graphics : InterProP42858
Splice isoforms : SwissVarP42858 (Swissvar)
Domaine pattern : Prosite (Expaxy)HEAT_REPEAT (PS50077)   
Domains : Interpro (EBI)ARM-like [organisation]   ARM-type_fold [organisation]   Huntingtin [organisation]   Huntingtin_middle-repeat [organisation]  
Related proteins : CluSTrP42858
Domain families : Pfam (Sanger)DUF3652 (PF12372)   
Domain families : Pfam (NCBI)pfam12372   
DMDM Disease mutations3064
Blocks (Seattle)P42858
PDB (SRS)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED   
PDB (PDBSum)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED   
PDB (IMB)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED   
PDB (RSDB)2D3X    2LD0    2LD2    3IO4    3IO6    3IOR    3IOT    3IOU    3IOV    3IOW    3LRH    4FE8    4FEB    4FEC    4FED   
Human Protein AtlasENSG00000197386 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP42858
HPRD00883
IPIIPI00002335   IPI00967382   
Protein Interaction databases
DIP (DOE-UCLA)P42858
IntAct (EBI)P42858
FunCoupENSG00000197386
BioGRIDHTT
InParanoidP42858
Interologous Interaction database P42858
IntegromeDBHTT
STRING (EMBL)HTT
Ontologies - Pathways
Ontology : AmiGOurea cycle  citrulline metabolic process  establishment of mitotic spindle orientation  p53 binding  protein binding  nucleus  nucleolus  cytoplasm  late endosome  autophagic vacuole  endoplasmic reticulum  Golgi apparatus  cytosol  protein import into nucleus  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  endoplasmic reticulum organization  Golgi organization  dopamine receptor signaling pathway  spermatogenesis  cell aging  locomotory behavior  axon cargo transport  transcription factor binding  determination of adult lifespan  visual learning  anterior/posterior pattern specification  endosomal transport  inclusion body  lactate biosynthetic process from pyruvate  quinolinate biosynthetic process  striatum development  olfactory lobe development  neural plate formation  insulin secretion  axon  dendrite  cytoplasmic vesicle membrane  regulation of protein phosphatase type 2A activity  dynactin binding  social behavior  hormone metabolic process  identical protein binding  protein complex  negative regulation of neuron apoptotic process  dynein intermediate chain binding  regulation of protein export from nucleus  regulation of mitochondrial membrane permeability  vesicle transport along microtubule  regulation of synaptic plasticity  paraxial mesoderm formation  beta-tubulin binding  organ development  neuron development  diazepam binding  neuron apoptotic process  response to calcium ion  regulation of mitochondrial membrane potential  L-glutamate import  iron ion homeostasis  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBIurea cycle  citrulline metabolic process  establishment of mitotic spindle orientation  p53 binding  protein binding  nucleus  nucleolus  cytoplasm  late endosome  autophagic vacuole  endoplasmic reticulum  Golgi apparatus  cytosol  protein import into nucleus  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  endoplasmic reticulum organization  Golgi organization  dopamine receptor signaling pathway  spermatogenesis  cell aging  locomotory behavior  axon cargo transport  transcription factor binding  determination of adult lifespan  visual learning  anterior/posterior pattern specification  endosomal transport  inclusion body  lactate biosynthetic process from pyruvate  quinolinate biosynthetic process  striatum development  olfactory lobe development  neural plate formation  insulin secretion  axon  dendrite  cytoplasmic vesicle membrane  regulation of protein phosphatase type 2A activity  dynactin binding  social behavior  hormone metabolic process  identical protein binding  protein complex  negative regulation of neuron apoptotic process  dynein intermediate chain binding  regulation of protein export from nucleus  regulation of mitochondrial membrane permeability  vesicle transport along microtubule  regulation of synaptic plasticity  paraxial mesoderm formation  beta-tubulin binding  organ development  neuron development  diazepam binding  neuron apoptotic process  response to calcium ion  regulation of mitochondrial membrane potential  L-glutamate import  iron ion homeostasis  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : BIOCARTAInhibition of Huntington's disease neurodegeneration by histone deacetylase inhibitors [Genes]   
Pathways : KEGGHuntington's disease   
Protein Interaction DatabaseHTT
Wikipedia pathwaysHTT
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HTT
snp3D : Map Gene to Disease3064
SNP (GeneSNP Utah)HTT
SNP : HGBaseHTT
Genetic variants : HAPMAPHTT
Exome VariantHTT
1000_GenomesHTT 
ICGC programENSG00000197386 
Somatic Mutations in Cancer : COSMICHTT 
CONAN: Copy Number AnalysisHTT 
Mutations and Diseases : HGMDHTT
Genomic VariantsHTT  HTT [DGVbeta]
dbVarHTT
ClinVarHTT
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM143100    613004   
MedgenHTT
GENETestsHTT
Disease Genetic AssociationHTT
Huge Navigator HTT [HugePedia]  HTT [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHTT
Homology/Alignments : Family Browser (UCSC)HTT
Phylogenetic Trees/Animal Genes : TreeFamHTT
Chemical/Protein Interactions : CTD3064
Chemical/Pharm GKB GenePA164741646
Clinical trialHTT
Cancer Resource (Charite)ENSG00000197386
Other databases
Probes
Litterature
PubMed418 Pubmed reference(s) in Entrez
CoreMineHTT
iHOPHTT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:59:35 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.