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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 norma... See more...
Aliases for HTT Gene
Aliases for HTT Gene
External Ids for HTT Gene
- HGNC: 4851
- Entrez Gene: 3064
- Ensembl: ENSG00000197386
- OMIM: 613004
- UniProtKB: P42858
Previous HGNC Symbols for HTT Gene
- HD
Previous GeneCards Identifiers for HTT Gene
- GC04P003046
- GC04P003014
- GC04P003076
Summaries 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 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 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 2016]
GeneCards Summary for HTT Gene
HTT (Huntingtin) is a Protein Coding gene. Diseases associated with HTT include Huntington Disease and Lopes-Maciel-Rodan Syndrome. Among its related pathways are Neuroscience and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and transcription factor binding.
UniProtKB/Swiss-Prot Summary for HTT Gene
-
[Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.
-
[Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles.
Additional gene information for HTT Gene
- HGNC(4851)
- Entrez Gene(3064)
- Ensembl(ENSG00000197386)
- OMIM(613004)
- UniProtKB(P42858)
- Open Targets Platform(ENSG00000197386)
- Monarch Initiative
- Search for HTT at DataMed
- Search for HTT at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HTT Gene
Genomics for HTT Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HTT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HTT on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HTT
- Top Transcription factor binding sites by QIAGEN in the HTT gene promoter:
-
- AP-1
- ATF-2
- c-Jun
- Sp1
- STAT1
- STAT1alpha
- STAT1beta
Genomic Locations for HTT Gene
Genomic Locations for HTT Gene
- chr4:3,041,422-3,243,960
- (GRCh38/hg38)
- Size:
- 202,539 bases
- Orientation:
- Plus strand
- chr4:3,076,408-3,245,687
- (GRCh37/hg19)
- Size:
- 169,280 bases
- Orientation:
- Plus strand
Genomic View for HTT Gene
Genes around HTT on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4p16.3 by HGNC
- 4p16.3 by Entrez Gene
- 4p16.3 by Ensembl
HTT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HTT Gene
Proteins for HTT Gene
-
Protein details for HTT Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P42858-HD_HUMAN
- Recommended name:
- Huntingtin
- Protein Accession:
- P42858
- Q9UQB7
Protein attributes for HTT Gene
- Size:
- 3142 amino acids
- Molecular mass:
- 347603 Da
- Quaternary structure:
-
- Interacts with PFN1 (PubMed:18573880). Interacts through its N-terminus with PRPF40A (PubMed:9700202). Interacts with PQBP1 (PubMed:10332029). Interacts with SETD2 (PubMed:9700202, PubMed:10958656, PubMed:11461154). Interacts with SH3GLB1 (By similarity). Interacts with SYVN (PubMed:17141218). Interacts with TPR; the interaction is inhibited by forms of Huntingtin with expanded polyglutamine stretch (PubMed:15654337). Interacts with ZDHHC13 (via ANK repeats) (PubMed:26198635). Interacts with ZDHHC17 (via ANK repeats) (PubMed:26198635, PubMed:28882895, PubMed:28757145). Interacts with F8A1/F8A2/F8A3 (PubMed:29466333, PubMed:16476778). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A (PubMed:16476778).
Protein Expression for HTT Gene
Post-translational modifications for HTT Gene
- [Huntingtin]: Cleaved by caspases downstream of the polyglutamine stretch (PubMed:8696339, PubMed:9535906, PubMed:10770929, PubMed:29802276). The resulting N-terminal fragments are cytotoxic and provokes apoptosis (PubMed:10770929).
- [Huntingtin]: Forms with expanded polyglutamine expansion are specifically ubiquitinated by SYVN1, which promotes their proteasomal degradation.
- [Huntingtin]: 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.
- [Huntingtin, myristoylated N-terminal fragment]: Myristoylated at Gly-551, following proteolytic cleavage at Asp-550.
-
Ubiquitination at Lys1262, Lys1402, Lys1431, and Lys2417
- NX_P42858 (NX_P42858-1)
- Modification sites at PhosphoSitePlus
Other Protein References for HTT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences HTT / Huntingtin Antibody and HTT / Huntingtin Monoclonal Antibody
- G Biosciences Immunotag™ HTT Antibody
-
Custom Antibody ServicesOriGene Antibodies for HTT
- Novus Biologicals Antibodies for HTT
-
Abcam antibodies for HTT
- Invitrogen Antibodies for HTT (AFLGC-Htt)
- antibodies-online: Show 127 available Huntingtin Antibodies ranked by validation data
- Compare Top Huntingtin Antibodies
-
Recommended
- 120 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 9 IHC Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 74 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 6 IHC Antibodies (anti-mouse)
- 4 IHC (p) Antibodies (anti-mouse)
- 1 IHC (fro) Antibody (anti-mouse)
- 43 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 6 IHC Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
-
Biorbyt antibodies for HTT
-
Boster Bio Antibodies for HTT
-
Santa Cruz Biotechnology (SCBT) Antibodies for HTT
Protein Products
-
OriGene Purified Proteins for HTT
- Search Origene for MassSpec and Protein Over-expression Lysates for HTT
- Origene Custom Protein Services for HTT
- Novus Biologicals proteins for HTT
-
Signalway Proteins for HTT
-
Abcam proteins for HTT
Assay Products
- G Biosciences Immunotag™ Human HTT (Huntingtin) ELISA and Immunotag™ Huntingtin ELISA Kit
- antibodies-online: Show 29 available Huntingtin Elisa Kits ranked by validation data
- Compare Top Huntingtin Elisa Kits
-
Quality Products:
- ABIN816343
- ABIN423526
- ABIN1570431
- ABIN5520831
- ABIN5592192
- ABIN454064
- ABIN5655199
- ABIN2534590
- ABIN6205141
- ABIN4969895
- ABIN430802
- ABIN1570432
- ABIN5520832
- ABIN5592193
- ABIN5655201
- ABIN2534591
- ABIN6205142
- ABIN4969896
- ABIN5073245
- ABIN1137574
- ABIN841368
- ABIN437443
- ABIN1570433
- ABIN5655202
- ABIN2534592
- ABIN6205143
- ABIN4969897
- ABIN1137575
-
Signalway ELISA kits for HTT
No data available for DME Specific Peptides for HTT Gene
Domains & Families for HTT Gene
Gene Families for HTT Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for HTT Gene
- InterPro:
- Blocks:
-
- Huntingtin signature
- ProtoNet:
Suggested Antigen Peptide Sequences for HTT Gene
- GenScript: Design optimal peptide antigens:
-
- Huntingtin (Huntington disease), isoform CRA_a (D3DVR8_HUMAN)
- Huntington disease protein (HD_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P42858UniProtKB/Swiss-Prot:
HD_HUMAN :- 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.
- Belongs to the huntingtin family.
- 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.
- Family:
-
- Belongs to the huntingtin family.
Function for HTT Gene
Molecular function for HTT Gene
- UniProtKB/Swiss-Prot Function:
- [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.
- UniProtKB/Swiss-Prot Function:
- [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles.
Phenotypes From GWAS Catalog for HTT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002039 | p53 binding | IPI | 10823891 |
| GO:0005515 | protein binding | IPI | 7477378 |
| GO:0005522 | profilin binding | IPI | 18573880 |
| GO:0019900 | kinase binding | IPI | 25686248 |
| GO:0031072 | heat shock protein binding | IPI | 21909508 |
Phenotypes for HTT Gene
- MGI mutant phenotypes for HTT:
-
inferred from 35 alleles
- nervous system phenotype
- immune system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- hematopoietic system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for HTT:
-
- no effect
- Decreased vaccinia virus (VACV) infection
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased Nanog expression
- Weakly decreased NFAT1-GFP nuclear translocation
- Increased shRNA abundance (Z-score > 2)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased HPV16-GFP infection
- Decreased Aire reporter expression
Animal Models for HTT Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HTT - Select products 50% OFF >
- * HTT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HTT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HTT
-
Santa Cruz Biotechnology (SCBT) CRISPR for HTT
miRNA for HTT Gene
- miRTarBase miRNAs that target HTT
-
- hsa-miR-26b-5p (MIRT030052)
- hsa-miR-421 (MIRT039425)
- hsa-miR-324-5p (MIRT043119)
- hsa-miR-106b-5p (MIRT044299)
- hsa-miR-17-5p (MIRT050823)
- hsa-miR-16-5p (MIRT051257)
- hsa-let-7b-5p (MIRT052338)
- mmu-miR-466n-5p (MIRT583019)
- mmu-miR-1198-5p (MIRT583020)
- mmu-miR-511-3p (MIRT583021)
- mmu-miR-466e-5p (MIRT583022)
- mmu-miR-1187 (MIRT583023)
- mmu-miR-466p-5p (MIRT583024)
- mmu-miR-466a-5p (MIRT583025)
- mmu-miR-466l-5p (MIRT583026)
- mmu-miR-466a-3p (MIRT583027)
- mmu-miR-297b-3p (MIRT583028)
- mmu-miR-466e-3p (MIRT583029)
- mmu-miR-466d-3p (MIRT583030)
- mmu-miR-467g (MIRT583031)
- mmu-miR-1b-5p (MIRT583032)
- mmu-miR-466o-3p (MIRT583033)
- mmu-miR-466m-3p (MIRT583034)
- mmu-miR-466c-3p (MIRT583035)
- mmu-miR-466p-3p (MIRT583036)
- mmu-miR-466b-3p (MIRT583037)
- mmu-miR-5125 (MIRT583038)
- mmu-miR-466k (MIRT583039)
- mmu-miR-466i-5p (MIRT583040)
- mmu-miR-466d-5p (MIRT583041)
- mmu-miR-883a-5p (MIRT600778)
- mmu-miR-184-3p (MIRT600779)
- mmu-miR-1943-5p (MIRT600780)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HTT
- Browse OriGene Inhibitory RNA Products For HTT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HTT
Clone Products
- Applied Biological Materials (abm): Clones for HTT - Select products 50% OFF >
- * HTT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for HTT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HTT
Cell Line Products
-
Horizon Cell Lines for HTT
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HTT Gene
Localization for HTT Gene
Subcellular locations from UniProtKB/Swiss-Prot for HTT Gene
- [Huntingtin]: Cytoplasm. Nucleus. Early endosome. 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 (PubMed:15654337). Recruits onto early endosomes in a Rab5- and HAP40-dependent fashion (PubMed:16476778). {ECO:0000269 PubMed:15654337, ECO:0000269 PubMed:16476778}.
- [Huntingtin, myristoylated N-terminal fragment]: Cytoplasmic vesicle, autophagosome.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| endosome | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| plasma membrane | 4 |
| mitochondrion | 3 |
| lysosome | 3 |
| extracellular | 2 |
| peroxisome | 2 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005634 | nucleus | IMP | 17947297 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IMP | 17947297 |
| GO:0005768 | endosome | IEA | -- |
Pathways & Interactions for HTT Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neuroscience | ||
| 2 | PI3K / Akt Signaling | ||
| 3 | Parkinson disease | ||
| 4 | Akt Signaling |
Akt Signaling
.60
|
|
| 5 | fMLP Pathway |
Huntington's Disease Pathway
.31
|
|
Pathways by source for HTT Gene
2 BioSystems pathways for HTT Gene
1 KEGG pathway for HTT Gene
2 Qiagen pathways for HTT Gene
- Akt Signaling
- Huntington's Disease Pathway
2 Cell Signaling Technology pathways for HTT Gene
Interacting Proteins for HTT Gene
Selected Interacting proteins:
P42858-HD_HUMAN
ENSP00000347184
for HTT Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for HTT
SIGNOR curated interactions for HTT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000132 | establishment of mitotic spindle orientation | IMP | 20696378 |
| GO:0006890 | retrograde vesicle-mediated transport, Golgi to ER | IMP | 20515468 |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0007030 | Golgi organization | IMP | 20515468 |
| GO:0031587 | positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | IDA | 12873381 |
Drugs & Compounds for HTT Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for HTT Gene
mRNA/cDNA for HTT Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000355072 13475 nts (view in UCSC)
- ENST00000502820 524 nts (view in UCSC)
- ENST00000506137 781 nts (view in UCSC)
- ENST00000508321 386 nts (view in UCSC)
- ENST00000509043 380 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for HTT - Select products 50% OFF >
- * HTT CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for HTT
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HTT
-
Santa Cruz Biotechnology (SCBT) CRISPR for HTT
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HTT
- Browse OriGene Inhibitory RNA Products For HTT
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HTT
Clone Products
- Applied Biological Materials (abm): Clones for HTT - Select products 50% OFF >
- * HTT as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Addgene plasmids for HTT
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HTT
Relevant External Links for HTT Gene
- GeneLoc Exon Structure for
- HTT
Expression for HTT Gene
This gene is overexpressed in Peripheral blood mononuclear cells (18.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HTT Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HTT
SOURCE GeneReport for Unigene cluster for HTT Gene:
Hs.518450mRNA Expression by UniProt/SwissProt for HTT Gene:
P42858-HD_HUMAN
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.
Evidence on tissue expression from TISSUES for HTT Gene
- Nervous system(4.9)
- Eye(4.6)
- Blood(4.6)
- Muscle(4.6)
- Liver(4.5)
- Lung(3.6)
- Skin(3.1)
- Adrenal gland(2.8)
- Kidney(2.8)
- Heart(2.6)
- Pancreas(2.4)
- Intestine(2.4)
- Spleen(2.2)
- Thyroid gland(2.1)
- Bone marrow(2.1)
- Lymph node(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HTT Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- eye
- head
- larynx
- neck
- vocal cord
General:
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for HTT
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HTT Gene
Orthologs for HTT Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HTT 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HD 31 |
|
OneToOne | |
| HTT 30 |
|
||||
| Mouse (Mus musculus) |
Mammalia | Htt 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Htt 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | HTT 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | HTT 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HTT 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HTT 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | htt 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | htt 30 31 |
|
OneToOne | |
| hd 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | htt 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for HTT was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for HTT Gene
- ENSEMBL:
- Gene Tree for HTT (if available)
- TreeFam:
- Gene Tree for HTT (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HTT: view image
Paralogs for HTT Gene
(1) SIMAP similar genes for HTT Gene using alignment to 2 proteins:
- HD_HUMAN
- H0YA07_HUMAN
No data available for Paralogs for HTT Gene
Variants for HTT Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for HTT Gene
- HD_HUMAN-P42858
- 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 (PubMed:8696339).
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HTT Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638462 | Uncertain Significance: not specified | 3,235,680(+) | C/T | MISSENSE_VARIANT | |
| 809611 | Likely Benign: not provided | 3,208,869(+) | C/T | SYNONYMOUS_VARIANT | |
| 871380 | Uncertain Significance: not provided | 3,142,801(+) | C/G | MISSENSE_VARIANT | |
| 871381 | Uncertain Significance: not provided | 3,186,690(+) | C/T | MISSENSE_VARIANT | |
| 916193 | Likely Benign: not provided | 3,208,881(+) | C/T | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2667257 | CNV | deletion | 23128226 |
| esv2726869 | CNV | deletion | 23290073 |
| esv2726870 | CNV | deletion | 23290073 |
| esv3376417 | CNV | duplication | 20981092 |
| esv3387920 | CNV | insertion | 20981092 |
| esv3599421 | CNV | loss | 21293372 |
| esv3599422 | CNV | loss | 21293372 |
| esv8475 | CNV | loss | 19470904 |
| nsv1123741 | CNV | deletion | 24896259 |
| nsv461163 | CNV | gain | 19166990 |
| nsv461164 | CNV | loss | 19166990 |
| nsv470003 | CNV | loss | 18288195 |
| nsv524211 | CNV | loss | 19592680 |
| nsv593437 | CNV | gain | 21841781 |
| nsv593439 | CNV | loss | 21841781 |
| nsv949760 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
0.145% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
22.05;
99.38% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HTT Gene
SNP Genotyping and Copy Number Assay Products
Disorders for HTT Gene
(43) MalaCards diseases for HTT Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| huntington disease |
|
|
| lopes-maciel-rodan syndrome |
|
|
| spinal and bulbar muscular atrophy, x-linked 1 |
|
|
| dentatorubral-pallidoluysian atrophy |
|
|
| spinocerebellar ataxia 1 |
|
Search HTT in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HD_HUMAN- 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. {ECO:0000269 PubMed:8458085}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Lopes-Maciel-Rodan syndrome (LOMARS) [MIM:617435]: An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures. {ECO:0000269 PubMed:26740508, ECO:0000269 PubMed:27329733}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for HTT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for HTT Gene
Publications for HTT Gene
- A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group. (PMID: 8458085) (Cell 1993) 2 3 4 23
- Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. (PMID: 19776381) Aziz NA … Roos RA (Neurology 2009) 3 23 41
- Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. (PMID: 18573880) Shao J … Diamond MI (Molecular and cellular biology 2008) 3 4 23
- Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study. (PMID: 18649400) McNicoll CF … Myers RH (Movement disorders : official journal of the Movement Disorder Society 2008) 3 23 41
- Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons. (PMID: 17611284) Anne SL … Humbert S (The Journal of neuroscience : the official journal of the Society for Neuroscience 2007) 3 4 23
ExternalLinks
Products for HTT Gene
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- antibodies-online: Show 127 available Huntingtin Antibodies ranked by validation data
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- antibodies-online: Show 5 available Huntingtin Proteins ranked by validation data
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Sources for HTT Gene
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