Homo sapiens Gene: HTT
Summary
InnateDB Gene IDBG-7852.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HTT
Gene Name huntingtin
Synonyms HD; IT15;
Species Homo sapiens
Ensembl Gene ENSG00000197386
Encoded Proteins
huntingtin
huntingtin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:3074681-3243959
Strand Forward strand
Band p16.3
Transcripts
ENST00000355072 ENSP00000347184
ENST00000506137
ENST00000512909
ENST00000510626
ENST00000509618 ENSP00000425743
ENST00000513639
ENST00000513326
ENST00000509043
ENST00000502820
ENST00000509751
ENST00000512068
ENST00000513806
ENST00000508321
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 313 experimentally validated interaction(s) in this database.
They are also associated with 92 interaction(s) predicted by orthology.
Experimentally validated
Total 313 [view]
Protein-Protein 309 [view]
Protein-DNA 2 [view]
Protein-RNA 1 [view]
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 92 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002039 p53 binding
GO:0005488 binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0034452 dynactin binding
GO:0042802 identical protein binding
GO:0045505 dynein intermediate chain binding
GO:0048487 beta-tubulin binding
GO:0050809 diazepam binding
Biological Process
GO:0000050 urea cycle
GO:0000052 citrulline metabolic process
GO:0000132 establishment of mitotic spindle orientation
GO:0006606 protein import into nucleus
GO:0006839 mitochondrial transport
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0006915 apoptotic process
GO:0007005 mitochondrion organization
GO:0007029 endoplasmic reticulum organization
GO:0007030 Golgi organization
GO:0007212 dopamine receptor signaling pathway
GO:0007283 spermatogenesis
GO:0007369 gastrulation
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007569 cell aging
GO:0007611 learning or memory
GO:0007612 learning
GO:0007625 grooming behavior
GO:0007626 locomotory behavior
GO:0008088 axon cargo transport
GO:0008306 associative learning
GO:0008340 determination of adult lifespan
GO:0008542 visual learning
GO:0009653 anatomical structure morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0016197 endosomal transport
GO:0019244 lactate biosynthetic process from pyruvate
GO:0019805 quinolinate biosynthetic process
GO:0021756 striatum development
GO:0021988 olfactory lobe development
GO:0021990 neural plate formation
GO:0022008 neurogenesis
GO:0030072 peptide hormone secretion
GO:0030073 insulin secretion
GO:0034047 regulation of protein phosphatase type 2A activity
GO:0035176 social behavior
GO:0042445 hormone metabolic process
GO:0043066 negative regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0046902 regulation of mitochondrial membrane permeability
GO:0047496 vesicle transport along microtubule
GO:0048167 regulation of synaptic plasticity
GO:0048341 paraxial mesoderm formation
GO:0048513 organ development
GO:0048666 neuron development
GO:0051402 neuron apoptotic process
GO:0051592 response to calcium ion
GO:0051881 regulation of mitochondrial membrane potential
GO:0051938 L-glutamate import
GO:0055072 iron ion homeostasis
GO:1901215 negative regulation of neuron death
GO:2001237 negative regulation of extrinsic apoptotic signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005770 late endosome
GO:0005776 autophagic vacuole
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0016234 inclusion body
GO:0030424 axon
GO:0030425 dendrite
GO:0030659 cytoplasmic vesicle membrane
GO:0043234 protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
EGFR1 pathway
REACTOME
KEGG
Huntington's disease pathway
INOH
PID BIOCARTA
Inhibition of huntingtons disease neurodegeneration by histone deacetylase inhibitors [Biocarta view]
PID NCI
Direct p53 effectors
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.518450
RefSeq NM_002111
HUGO
OMIM
CCDS CCDS43206
HPRD 00883
IMGT
EMBL
GenPept
RNA Seq Atlas