Name

HTT Gene

huntingtin

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]

HTT-AS Gene

HTT antisense RNA (head to head)

HTT Gene Set

From CHEA Transcription Factor Targets

target genes of the HTT transcription factor in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.

htt Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term htt in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

HTT Gene Set

From Hub Proteins Protein-Protein Interactions

interacting proteins for hub protein HTT from the curated Hub Proteins Protein-Protein Interactions dataset.

HTT Gene Set

From Pathway Commons Protein-Protein Interactions

interacting proteins for HTT from the Pathway Commons Protein-Protein Interactions dataset.

HTT-18923047-STHdh-human Gene Set

From CHEA Transcription Factor Binding Site Profiles

genes with transcription factor binding evidence in the HTT-18923047-STHdh-human transcription factor binding site profile from the CHEA Transcription Factor Binding Site Profiles dataset.

Htt-Dctn1-Hap1 complex Gene Set

From CORUM Protein Complexes

proteins in the Htt-Dctn1-Hap1 complex protein complex from the CORUM Protein Complexes dataset.

InsP3R1-HAP1A-Htt complex Gene Set

From CORUM Protein Complexes

proteins in the InsP3R1-HAP1A-Htt complex protein complex from the CORUM Protein Complexes dataset.

httninduced Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httninduced in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

http Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term http in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httn Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httn in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httexpressing Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httexpressing in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httpinformahealthcarecomdoifull103109156229752010518628 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httpinformahealthcarecomdoifull103109156229752010518628 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httn17 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httn17 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httlpr Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httlpr in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httpinformahealthcarecomdoifull103109156229752010539270 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httpinformahealthcarecomdoifull103109156229752010539270 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

htt43q Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term htt43q in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httex1 Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httex1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

htt588q95mrfp Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term htt588q95mrfp in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

httinteracting Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term httinteracting in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

5-HTT brain serotonin transporter levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the 5-HTT brain serotonin transporter levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

HTTM Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the HTTM protein domain from the InterPro Predicted Protein Domain Annotations dataset.