| URN | urn:agi-llid:3064 |
|---|---|
| Total Entities | 0 |
| Connectivity | 1259 |
| Name | Htt |
| Description | huntingtin |
| Notes | 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] |
| GO Molecular Function | transcription factor binding |
|---|---|
| p53 binding | |
| receptor binding | |
| dynactin binding | |
| beta-tubulin binding | |
| dynein intermediate chain binding | |
| diazepam binding |
| GO Cellular Component | cell |
|---|---|
| cytoplasmic vesicle membrane | |
| nucleolus | |
| postsynaptic density | |
| protein complex | |
| neuronal ribonucleoprotein granule | |
| intracellular | |
| inclusion body | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| endoplasmic reticulum | |
| mitochondrion | |
| autophagic vacuole | |
| late endosome | |
| cytoplasmic membrane-bounded vesicle | |
| clathrin-coated vesicle | |
| nucleus | |
| axon | |
| dendrite | |
| neuronal cell body |
| GO Biological Process | spermatogenesis |
|---|---|
| urea cycle | |
| lactate biosynthetic process from pyruvate | |
| quinolinate biosynthetic process | |
| citrulline metabolic process | |
| determination of adult lifespan | |
| anterior-posterior pattern specification | |
| learning or memory | |
| learning | |
| associative learning | |
| visual learning | |
| embryo development | |
| central nervous system development | |
| organ development | |
| brain development | |
| olfactory lobe development | |
| striatum development | |
| neurogenesis | |
| neuron development | |
| neural plate formation | |
| gastrulation | |
| paraxial mesoderm formation | |
| cell aging | |
| grooming behavior | |
| establishment of mitotic spindle orientation | |
| regulation of mitochondrial membrane permeability | |
| axon cargo transport | |
| vesicle transport along microtubule | |
| negative regulation of extrinsic apoptotic signaling pathway | |
| dopamine receptor signaling pathway | |
| regulation of synaptic plasticity | |
| peptide hormone secretion | |
| insulin secretion | |
| apoptotic process | |
| negative regulation of apoptotic process | |
| negative regulation of neuron apoptotic process | |
| neuron apoptotic process | |
| endosomal transport | |
| mitochondrial transport | |
| protein import into nucleus | |
| regulation of protein export from nucleus | |
| ER to Golgi vesicle-mediated transport | |
| retrograde vesicle-mediated transport, Golgi to ER | |
| L-glutamate import | |
| response to calcium ion | |
| locomotory behavior | |
| social behavior | |
| regulation of protein phosphatase type 2A activity | |
| negative regulation of cysteine-type endopeptidase activity | |
| anatomical structure morphogenesis | |
| hormone metabolic process | |
| mRNA transport | |
| mitochondrion organization | |
| endoplasmic reticulum organization | |
| Golgi organization | |
| regulation of mitochondrial membrane potential | |
| iron ion homeostasis |
| Pathway | Huntington disease pathway |
|---|
| Group | Transcription factors |
|---|---|
| spermatogenesis | |
| urea cycle | |
| lactate biosynthetic process from pyruvate | |
| quinolinate biosynthetic process | |
| citrulline metabolic process | |
| determination of adult lifespan | |
| anterior-posterior pattern specification | |
| learning or memory | |
| learning | |
| associative learning | |
| visual learning | |
| embryo development | |
| central nervous system development | |
| organ development | |
| brain development | |
| olfactory lobe development | |
| striatum development | |
| neurogenesis | |
| neuron development | |
| neural plate formation | |
| gastrulation | |
| paraxial mesoderm formation | |
| cell aging | |
| grooming behavior | |
| establishment of mitotic spindle orientation | |
| regulation of mitochondrial membrane permeability | |
| axon cargo transport | |
| vesicle transport along microtubule | |
| negative regulation of extrinsic apoptotic signaling pathway | |
| dopamine receptor signaling pathway | |
| regulation of synaptic plasticity | |
| peptide hormone secretion | |
| insulin secretion | |
| apoptotic process | |
| negative regulation of apoptotic process | |
| negative regulation of neuron apoptotic process | |
| neuron apoptotic process | |
| endosomal transport | |
| mitochondrial transport | |
| protein import into nucleus | |
| regulation of protein export from nucleus | |
| ER to Golgi vesicle-mediated transport | |
| retrograde vesicle-mediated transport, Golgi to ER | |
| L-glutamate import | |
| response to calcium ion | |
| locomotory behavior | |
| social behavior | |
| regulation of protein phosphatase type 2A activity | |
| negative regulation of cysteine-type endopeptidase activity | |
| anatomical structure morphogenesis | |
| hormone metabolic process | |
| mRNA transport | |
| mitochondrion organization | |
| endoplasmic reticulum organization | |
| Golgi organization | |
| regulation of mitochondrial membrane potential | |
| iron ion homeostasis | |
| transcription factor binding | |
| p53 binding | |
| receptor binding | |
| dynactin binding | |
| beta-tubulin binding | |
| dynein intermediate chain binding | |
| diazepam binding | |
| cell | |
| cytoplasmic vesicle membrane | |
| nucleolus | |
| postsynaptic density | |
| protein complex | |
| neuronal ribonucleoprotein granule | |
| intracellular | |
| inclusion body | |
| cytoplasm | |
| Golgi apparatus | |
| cytosol | |
| endoplasmic reticulum | |
| mitochondrion | |
| autophagic vacuole | |
| late endosome | |
| cytoplasmic membrane-bounded vesicle | |
| clathrin-coated vesicle | |
| nucleus | |
| axon | |
| dendrite | |
| neuronal cell body | |
| Secreted proteins | |
| Biofluids assayable substances |
| LocusLink ID | 3064 |
|---|---|
| 15194 | |
| 29424 |
| Cell Localization | Nucleus |
|---|---|
| Cytoplasm |
| GO ID | 0048487 |
|---|---|
| 0050809 | |
| 0034452 | |
| 0045505 | |
| 0002039 | |
| 0008134 | |
| 0006888 | |
| 0007030 | |
| 0051938 | |
| 0009952 | |
| 0008088 | |
| 0007569 | |
| 0000052 | |
| 0008340 | |
| 0007212 | |
| 0007029 | |
| 0016197 | |
| 0000132 | |
| 0042445 | |
| 0030073 | |
| 0055072 | |
| 0019244 | |
| 0007626 | |
| 2001237 | |
| 0043524 | |
| 0021990 | |
| 0051402 | |
| 0048666 | |
| 0021988 | |
| 0048513 | |
| 0048341 | |
| 0006606 | |
| 0019805 | |
| 0046902 | |
| 0051881 | |
| 0046825 | |
| 0034047 | |
| 0048167 | |
| 0051592 | |
| 0006890 | |
| 0035176 | |
| 0007283 | |
| 0021756 | |
| 0000050 | |
| 0047496 | |
| 0008542 | |
| 0005794 | |
| 0005776 | |
| 0030424 | |
| 0005737 | |
| 0030659 | |
| 0005829 | |
| 0030425 | |
| 0005783 | |
| 0016234 | |
| 0005770 | |
| 0005730 | |
| 0005634 | |
| 0043234 | |
| 0005102 | |
| 0009653 | |
| 0006915 | |
| 0008306 | |
| 0007420 | |
| 0007417 | |
| 0009790 | |
| 0007369 | |
| 0007625 | |
| 0007612 | |
| 0007611 | |
| 0051028 | |
| 0006839 | |
| 0007005 | |
| 0043066 | |
| 2000117 | |
| 0022008 | |
| 0030072 | |
| 0005623 | |
| 0030136 | |
| 0016023 | |
| 0005622 | |
| 0005739 | |
| 0043025 | |
| 0071598 | |
| 0014069 |
| Alias | HD |
|---|---|
| IT15 | |
| huntingtin | |
| huntington disease protein | |
| Hdh | |
| AI256365 | |
| C430023I11Rik | |
| HD protein homolog | |
| Huntington disease gene homolog | |
| huntington disease protein homolog | |
| huntingtin (Huntington disease) | |
| Huntington disease gene | |
| LOC100503657 | |
| rat hypodactyly gene | |
| OTTMUSP00000026909 | |
| RIKEN cDNA C430023I11 gene | |
| IT-15 | |
| C430023I11 | |
| Huntington's disease gene | |
| Huntington's disease protein | |
| IT(15) |
| Mouse chromosome position | 5 17.92 cM |
|---|
| OMIM ID | 613004 |
|---|---|
| 143100 |
| Rat chromosome position | 14q21 |
|---|
| Hugo ID | 4851 |
|---|
| Human chromosome position | 4p16.3 |
|---|
| Swiss-Prot Accession | P42858 |
|---|---|
| G3X9H5 | |
| P42859 | |
| G3V9P7 | |
| P51111 | |
| Q9UQB7 |
| PIR ID | I49729 |
|---|---|
| A46068 |
| Unigene ID | Hs.518450 |
|---|---|
| Mm.209071 | |
| Rn.11193 |
| KEGG ID | hsa:3064 |
|---|---|
| mmu:15194 | |
| rno:29424 |
| Swiss-Prot ID | HD_MOUSE |
|---|---|
| HD_HUMAN |
| Ensembl ID | ENSG00000197386 |
|---|---|
| ENSP00000347184 | |
| ENST00000355072 | |
| ENSMUSG00000029104 | |
| ENSMUSP00000078945 | |
| ENSMUST00000080036 | |
| ENSRNOG00000011073 | |
| ENSRNOP00000054971 | |
| ENSRNOT00000058166 |
| Homologene ID | 1593 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 96067 |
|---|
| RGD ID | 68337 |
|---|
| MedScan ID | 3064 |
|---|