HTT (huntingtin)

2003-05-01  

Identity

HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
HD,IT15,LOMARS
FUSION GENES

Other Information

Locus ID:

NCBI: 3064
MIM: 613004
HGNC: 4851
Ensembl: ENSG00000197386

Variants:

dbSNP: 3064
ClinVar: 3064
TCGA: ENSG00000197386
COSMIC: HTT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197386ENST00000355072P42858
ENSG00000197386ENST00000502820A0A3B3IU44
ENSG00000197386ENST00000509618H0YA07
ENSG00000197386ENST00000649009A0A3B3ITM9
ENSG00000197386ENST00000649131A0A3B3ISR3
ENSG00000197386ENST00000650588A0A3B3IU25
ENSG00000197386ENST00000650595A0A3B3IU25

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447197Attention Deficit Disorder with HyperactivityDiseaseClinicalAnnotation, VariantAnnotationassociatedPD29382897
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA450464methylphenidateChemicalClinicalAnnotation, VariantAnnotationassociatedPD29382897
PA451257risperidoneChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
162865082005p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death.1175
161922712005HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin.270
167776062006Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin.244
119885362002Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease.204
213362842011Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity.180
153400792004Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro.175
165226392006Regulation of intracellular accumulation of mutant Huntingtin by Beclin 1.173
119066932002Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease.157
192707012009Polyglutamine disruption of the huntingtin exon 1 N terminus triggers a complex aggregation mechanism.157
163651662005Expression of mutant huntingtin in glial cells contributes to neuronal excitotoxicity.154

Citation

Dessen P

HTT (huntingtin)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40801/htt