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Tchem
HTT
Huntingtin

Protein Summary
Description
May play a role in microtubule-mediated transport or vesicle function. 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 of trinucleotide repeats (9-35) 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 expr ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000355072
  • ENSP00000347184
  • ENSG00000197386

Symbol
  • HD
  • IT15
  • HD
  • IT15
  • LOMARS
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
hub protein
0.99
interacting protein
0.96
disease perturbation
0.95
biological term
0.92


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3200.84   (req: < 5)
Gene RIFs: 448   (req: <= 3)
Antibodies: 738   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3200.84   (req: >= 5)
Gene RIFs: 448   (req: > 3)
Antibodies: 738   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 26
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 2
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (18)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
2
1
2
94.6
unipolar depression
1
1
0
1
90.7
mean platelet volume
2
3
4
89
waist-hip ratio
2
2
2
84.8
neutrophil count
2
2
2
78.7
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
self reported educational attainment
2
94.6
unipolar depression
0
1
90.7
mean platelet volume
4
89
waist-hip ratio
2
84.8
neutrophil count
2
78.7
Orthologs (14)
1 – 5 of 14
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
huntingtin
VGNC:48910
461084
Macaque
huntingtin
700306
Mouse
MGI:96067
15194
Rat
RGD:68337
29424
Dog
huntingtin
VGNC:41839
479074
Species
Name
OMA
EggNOG
Inparanoid
Chimp
huntingtin
Macaque
huntingtin
Mouse
Rat
Dog
huntingtin
Protein Structure (17 Structures, 10 AlphaFold Models)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 17
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (16)
Gene expression (Transcription) (R-HSA-74160)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
RNA Polymerase II Transcription
Reactome
Regulation of MECP2 expression and activity
Reactome
Transcriptional Regulation by MECP2
Name
Explore in Pharos
Explore in Source
Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription
Regulation of MECP2 expression and activity
Transcriptional Regulation by MECP2
Gene Ontology Terms (43)
Items per page:
10
1 – 9 of 9
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
CAFA
Inferred from Physical Interaction (IPI)
IntAct
Inferred from Physical Interaction (IPI)
ParkinsonsUK-UCL
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Protein-Protein Interactions (285)
1 – 10 of 285
RAB30
Tbio
Family: Enzyme
Novelty: 0.1262404
p_int: 0.999995817
p_ni: 0.000004183
Score: 0.201
Data Source: BioPlex,STRINGDB
SNX21
Tdark
Novelty: 0.32916633
p_int: 0.999987201
p_ni: 0.000012799
Data Source: BioPlex
SYT12
Tbio
Novelty: 0.03410873
p_int: 0.999970299
p_ni: 0.000029701
Score: 0.249
Data Source: BioPlex,STRINGDB
PRMT2
Tbio
Family: Epigenetic
Novelty: 0.04121581
p_int: 0.99993151
p_ni: 0.00006849
Score: 0.183
Data Source: BioPlex,STRINGDB
MPP1
Tbio
Novelty: 0.08674817
p_int: 0.999537003
p_ni: 0.000462997
Score: 0.206
Data Source: BioPlex,STRINGDB
NPY2R
Tchem
Family: GPCR
Novelty: 0.01177255
p_int: 0.998453296
p_ni: 0.001546704
Data Source: BioPlex
OPRM1
Tclin
Family: GPCR
Novelty: 0.0003701
p_int: 0.996145315
p_ni: 0.003854685
Score: 0.219
Data Source: BioPlex,STRINGDB
CRYL1
Tbio
Family: Enzyme
Novelty: 0.04513297
p_int: 0.99578395
p_ni: 0.00421605
Data Source: BioPlex
FEZ1
Tbio
Novelty: 0.02695814
p_int: 0.974741746
p_ni: 0.025258253
p_wrong: 1e-9
Score: 0.261
Data Source: BioPlex,STRINGDB
OSTM1
Tbio
Novelty: 0.03033192
p_int: 0.92339997
p_ni: 0.076597413
p_wrong: 0.000002617
Data Source: BioPlex
Publication Statistics
PubMed Score  3200.84

PubMed score by year
PubTator Score  1895.6

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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