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0HD_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionHuntingtin (huntington's disease protein) (hd protein).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005737 cytoplasm (TAS)
0005634 nucleus (TAS)
0005625 soluble fraction (TAS)
0008017 microtubule binding (TAS)
0005515 protein binding (IPI)
0003714 transcription corepressor activity (TAS)
0005215 transporter activity (TAS)
0006915 apoptosis (TAS)
0007610 behavior (TAS)
0006917 induction of apoptosis (TAS)
0009887 organogenesis (TAS)
0009405 pathogenesis (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
The HEAT repeat is a tandemly repeated.7-47 amino acid long moduleoccurring in a number of cytoplasmic proteins.ncluding the fourname-giving proteins huntingtin.longation factor 3 (EF3).he 65 Kdalpha regulatory subunit of protein phosphatase 2A (PP2A) and theyeast PI3-kinase TOR1 . Arrays of HEAT repeats consists of 3 to 36units forming a rod-like helical structure and appear to function as protein-protein interaction surfaces. It has been noted that manyHEAT repeat-containing proteins are involved in intracellular transport processes.In the crystal structure of PP2A PR65/A .he HEAT repeats consistof pairs of antiparallel alpha helices.s predicted in .
Huntingtons disease (HD) is a mid-life onset.nherited.eurodegenerativedisorder characterised by motor impairment.nvoluntary movements (chorea).sychiatric disorders and dementia . The disease results from theexpansion of a polyglutamine-encoding CAG repeat in a gene of unknownfunction. Moderate expansion of glutamine-coding CAG repeats has beenfound in other neurological diseases (e.g. spinobulbar muscular atrophyand Machado-Joseph disease).n all of which the pathological mechanismlinked to the expansion of the polyglutamine tract in the protein remainsa mystery.The HD transcript is highly conserved.ignificant differences.s alreadynoted.ccurring in the N-terminal Gln-repeat region. Huntingtin normallycontains 10-35 repeats.ut shows 36-120 repeats in the disease form.Migration differences between normal and mutated huntingtin in a denaturingpolyacrylamide gel suggest that the poly-Gln stretch disrupts the proteinconformation. This finding is consistent with the observation thatGln repeats may form tightly-linked beta-sheets that could act as polarzippers .
Pentatricopeptide repeat proteins are characterised by the presence of a tandem array of the number of PPR motifs controls the affinity and specificity of the PPR protein for RNA. These proteins occur predominantly in they appear to play essential roles in RNA/DNA metabolism in mitochondria and chloroplasts . It has been suggested that each of the highly variable PPR proteins is a gene-specific regulator of plant organellar RNA metabolism. PPR proteins may also play a role in organelle biogenesis.robably via binding to organellar transcripts . Examples of PPR repeat-containing proteins include PET309 .hich may be involved in RNA stabilisation .nd crp1.hich is involved in RNA processing . The repeat is associated with a predicted plant protein that has a domain organization similar to the human BRCA1 protein.
  IPR002885:Pentatricopeptide repeat
Steroid or nuclear hormone receptors (4A nuclear receptor.Rs) constitute an important superfamily of transcription regulators that are involved in widely diverse physiological functions.ncluding control of embryonic development.ell differentiation and homeostasis. Members of the superfamily include the steroid hormone receptors and receptors for thyroid hormone.etinoids..5-dihydroxy-vitamin D3 and a variety of other ligands . The proteins function as dimeric molecules in nuclei to regulate the transcription of target genes in a ligand-responsive manner . In addition to C-terminal ligand-binding domains.hese nuclear receptors contain a highly-conserved.-terminal zinc-finger that mediates specific binding to target DNA sequences.ermed ligand-responsive elements. In the absence of ligand.teroid hormone receptors are thought to be weakly associated with nuclear components; hormone binding greatly increases receptor affinity.NRs are extremely important in medical research. large number of them being implicated in diseases such as cancer.iabetes.ormone resistance While several NRs act as ligand-inducible transcription factors.any do not yet have a defined ligand and are accordingly termed orphan receptors. During the last decade.ore than 300 NRs have been described.any of which are orphans.hich cannot easily be named due to current nomenclature confusions in the literature. However. new system has recently been introduced in an attempt to rationalise the increasingly complex set of names used to describe superfamily members.The SSF signature in this entry is currently under review. Please be aware that some of the protein hits may be false positives.
  IPR008946:Nuclear receptor, ligand-binding
This domain consists of a multi-helical fold comprised of two curved layers of alpha helices arranged in a regular right-handed the repeats that make up this structure are arranged about a common axis . These superhelical structures present an extensive solvent-accessible surface that is well suited to binding large substrates such as proteins and nucleic acids. This topology has been found with a number of repeats and domains.ncluding the armadillo repeat (found in beta-catenins and importins).he HEAT repeat (found in protein phosphatase 2a and initiation factor eIF4G).he PHAT domain (found in Smaug RNA-binding protein).he leucine-rich repeat variant.he Pumilo repeat.nd in the H regulatory subunit of V-type ATPases. The sequence similarity among these different repeats or domains is low.owever they exhibit considerable structural similarity. Furthermore.he number of repeats present in the superhelical structure can vary between orthologues.ndicating that rapid loss/gain of repeats has occurred frequently in evolution. A common phylogenetic origin has been proposed for the armadillo and HEAT repeats .
  IPR011989:Armadillo-like helical
SequencesProtein: HD_HUMAN (3144 aa)
mRNA: NM_002111
Local Annotation
Synapse Ontology
microtubules of the presynaptic compartment function as the tracks for the intense traffic of organelles from cell body to axon terminals and vice versa. It is generally excluded from the presynaptic vesicle cluster.Microtubules do not directly regulate synapse morphology or function
sdb:0087 microtubules  (Evidence:keywords)
calcium-regulated transcription factor
sdb:0215 calcium-regulated transcription factor  (Evidence:keywords)
sdb:0265 cAMP mediated STP  (Evidence:keywords)
KO assignmentK04533
  Level 3 annotation:
    huntingtin (Huntington disease)
  Level 2 annotation:
    Huntington's disease
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 137 residues, 3046205-3046613Exon2: 30 residues, 3058463-3058547Exon3: 42 residues, 3070798-3070919Exon4: 22 residues, 3075348-3075408Exon5: 28 residues, 3076881-3076961Exon6: 48 residues, 3078809-3078948Exon7: 49 residues, 3086828-3086970Exon8: 61 residues, 3087609-3087788Exon9: 70 residues, 3092752-3092957Exon10: 18 residues, 3094413-3094461Exon11: 29 residues, 3097073-3097154Exon12: 115 residues, 3098788-3099129Exon13: 43 residues, 3101448-3101572Exon14: 41 residues, 3101829-3101948Exon15: 39 residues, 3102810-3102922Exon16: 48 residues, 3103162-3103300Exon17: 55 residues, 3104086-3104245Exon18: 34 residues, 3104338-3104436Exon19: 48 residues, 3105925-3106065Exon20: 23 residues, 3107428-3107492Exon21: 35 residues, 3107750-3107851Exon22: 51 residues, 3112034-3112181Exon23: 42 residues, 3114290-3114411Exon24: 27 residues, 3116676-3116753Exon25: 52 residues, 3118321-3118473Exon26: 69 residues, 3119529-3119732Exon27: 44 residues, 3125817-3125944Exon28: 44 residues, 3128596-3128724Exon29: 39 residues, 3131806-3131917Exon30: 28 residues, 3143844-3143922Exon31: 76 residues, 3144432-3144656Exon32: 28 residues, 3146245-3146324Exon33: 56 residues, 3146470-3146632Exon34: 20 residues, 3148856-3148912Exon35: 51 residues, 3149822-3149971Exon36: 47 residues, 3152039-3152176Exon37: 41 residues, 3153878-3153995Exon38: 43 residues, 3158121-3158244Exon39: 80 residues, 3159175-3159411Exon40: 49 residues, 3160475-3160618Exon41: 71 residues, 3171256-3171464Exon42: 49 residues, 3175531-3175673Exon43: 62 residues, 3178020-3178200Exon44: 61 residues, 3178331-3178508Exon45: 27 residues, 3178805-3178882Exon46: 48 residues, 3180297-3180436Exon47: 43 residues, 3181351-3181474Exon48: 73 residues, 3183453-3183667Exon49: 50 residues, 3184088-3184234Exon50: 61 residues, 3185482-3185660Exon51: 36 residues, 3186634-3186736Exon52: 64 residues, 3189289-3189477Exon53: 44 residues, 3191706-3191833Exon54: 35 residues, 3193911-3194012Exon55: 53 residues, 3194930-3195085Exon56: 48 residues, 3195516-3195656Exon57: 29 residues, 3197185-3197268Exon58: 45 residues, 3200139-3200270Exon59: 45 residues, 3200404-3200534Exon60: 54 residues, 3201411-3201567Exon61: 65 residues, 3204687-3204878Exon62: 40 residues, 3206808-3206923Exon63: 73 residues, 3207089-3207303Exon64: 37 residues, 3207673-3207779Exon65: 56 residues, 3209971-3210134Exon66: 55 residues, 3210342-3210503Exon67: 1373 residues, 3211370-3215484Exon68: 2 residues, -Jump to HD_HUMAN  
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Loci Cluster (Details)Loci: 3402 3285671-3411436 ~-126K 27271(RGS12)(+)Loci: 3403 3738093-3740049 ~-2K 27284(ADRA2C)(+)Loci: 3401 3046205-3215484 ~-169K 27267(HD)(+)Link out to UCSC