Family Search for PF12372 (Htt_N-HEAT)
PF12372 hits 18 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
NP_077333 huntingtin from Rattus norvegicus
Aligns to 737:1613 / 3120 (28.1%), covers 99.9% of PF12372, 1134.9 bits
- Towards Standardizing Nomenclature in Huntington's Disease Research
DiFiglia, Journal of Huntington's disease 2024 - “...length and HTT length [ 19, 22 ] from NCBI: XP_028704080.1, (XP_045247979.1, NP_001254674.1, NP_001136110.1, NP_999129.1, NP_077333, XP_030126485.3, XP_041443615.1, XP_031751173.1, NP509663.3; UniProt XP_645159.1. Species Huntingtin gene symbol Huntingtin protein symbol Polyglutamine repeat length HTT residue length Human/higher mammals Human (Homo sapiens) HTT HTT Q23 3144 Human, HD...”
- Elucidation of Site-Specific Ubiquitination on Chaperones in Response to Mutant Huntingtin.
Panda, Cellular and molecular neurobiology 2023 (PubMed)- GeneRIF: Elucidation of Site-Specific Ubiquitination on Chaperones in Response to Mutant Huntingtin.
- TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.
Hegde, The EMBO journal 2020 - GeneRIF: TBK1 phosphorylates mutant Huntingtin and suppresses its aggregation and toxicity in Huntington's disease models.
- BACHD rats expressing full-length mutant huntingtin exhibit differences in social behavior compared to wild-type littermates.
Manfré, PloS one 2018 - GeneRIF: results indicate deficits in several parameters representative of sociability in rats with huntingtin mutation in a model of Huntington disease
- Heat shock promotes inclusion body formation of mutant huntingtin (mHtt) and alleviates mHtt-induced transcription factor dysfunction.
Chen, The Journal of biological chemistry 2018 - GeneRIF: Heat shock promotes inclusion body formation of mutant Htt and alleviates mutant Htt-induced HSF1 dysfunction.
- N-terminal Huntingtin (Htt) phosphorylation is a molecular switch regulating Htt aggregation, helical conformation, internalization, and nuclear targeting.
DeGuire, The Journal of biological chemistry 2018 - GeneRIF: results provide crucial insights into the role of phosphorylation in regulating Httex1 structure and function, and underscore the critical importance of identifying the enzymes responsible for regulating Htt phosphorylation, and their potential as therapeutic targets for managing Huntington's disease
- Distinct cellular toxicity of two mutant huntingtin mRNA variants due to translation regulation.
Xu, PloS one 2017 - GeneRIF: the long HTT 3'UTR suppresses translation.
- Mutant Huntingtin Is Secreted via a Late Endosomal/Lysosomal Unconventional Secretory Pathway.
Trajkovic, The Journal of neuroscience : the official journal of the Society for Neuroscience 2017 - GeneRIF: We found that the protein is secreted via a late endosomal/lysosomal unconventional secretory pathway. Moreover, mHtt secretion can be reduced significantly by phosphatidylinositol 3-kinase and neutral sphingomyelinase inhibitors. Understanding and manipulating the secretion of mHtt is important because of its potentially harmful propagation in the brain.
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P51111 Huntingtin from Rattus norvegicus
Aligns to 727:1603 / 3110 (28.2%), covers 99.9% of PF12372, 1126.8 bits
- Validation of protein carbonyl measurement: a multi-centre study.
Augustyniak, Redox biology 2015 - “...11 54.7 DO P12001 60S ribosomal protein L18 21.7 LPP Identified in 5 and 15min P51111 Huntingtin 343.8 DO P29994 Inositol 1,4,5-trisphosphate receptor type 1 313.3 DO Q63796 Mitogen-activated protein kinase kinase kinase 12 96.3 LPP Q6WAY2 Lipid phosphate phosphatase-related protein type 1 35.9 DO...”
- Myelin-mediated inhibition of oligodendrocyte precursor differentiation can be overcome by pharmacological modulation of Fyn-RhoA and protein kinase C signalling.
Baer, Brain : a journal of neurology 2009 - “...Heat shock cognate 71 kDa protein P63018 gi|51702273 70871 0 271 5 6 135 Huntingtin P51111 gi|1708162 343762 0 101 3 1 91 Hypoxanthine-guanine phosphoribosyltransferase P27605 gi|123501 24477 0 32 1 4 124 Junction plakoglobin Q6P0K8 gi|81885083 81801 0 105 4 5 41 LAMA-like protein 2...”
- The Urine Proteome as a Biomarker of Radiation Injury: Submitted to Proteomics- Clinical Applications Special Issue: "Renal and Urinary Proteomics (Thongboonkerd)".
Sharma, Proteomics. Clinical applications 2008 - Characterization, developmental expression and evolutionary features of the huntingtin gene in the amphioxus Branchiostoma floridae
Candiani, BMC developmental biology 2007 - “...carried out using the huntingtin sequences from Homo sapiens (P42858), Mus musculus (P42859), Rattus norvegicus (P51111), Sus scrofa (BAA36752), Danio rerio (AAC63983), Fugu rubripes (P51112), Tetraodon negroviridis (CAG03293), and Ciona intestinalis (AM162277). We also used the sequences of Xenopus tropicalis , Gallus gallus and Ciona savigny...”
- High-throughput identification of IMCD proteins using LC-MS/MS.
Pisitkun, Physiological genomics 2006
HD_MOUSE / P42859 Huntingtin; Huntington disease protein homolog; HD protein homolog from Mus musculus (Mouse) (see 4 papers)
Aligns to 736:1612 / 3119 (28.1%), covers 99.9% of PF12372, 1126.8 bits
- function: [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.
function: [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles.
subunit: Interacts with PFN1 (By similarity). Interacts through its N- terminus with PRPF40A (By similarity). Interacts with PQBP1 (By similarity). Interacts with SETD2 (By similarity). Interacts with SH3GLB1 (PubMed:12456676). Interacts with SYVN (By similarity). Interacts with TPR; the interaction is inhibited by forms of Huntingtin with expanded polyglutamine stretch (By similarity). Interacts with ZDHHC13 (via ANK repeats) (PubMed:26198635). Interacts with ZDHHC17 (via ANK repeats) (PubMed:26198635). Interacts with F8A1/F8A2/F8A3 (By similarity). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A (By similarity). - Phosphorylated proteomics-based analysis of the effects of semaglutide on hippocampi of high-fat diet-induced-obese mice.
Chen, Diabetology & metabolic syndrome 2023 - “...Table 1 Phosphorylated proteins reversed after semaglutide treatment Gene name Gene name Description H/C S/H P42859 Htt Huntingtin inf 0 P08551 Nefl Neurofilament light polypeptide 0 inf P19246 Nefh Neurofilament heavy polypeptide inf 0 Q6PHZ2 Camk2d Calcium/calmodulin-dependent protein kinase type II subunit delta inf 0 Q5SW75...”
- Organization of Presynaptic Autophagy-Related Processes.
Gundelfinger, Frontiers in synaptic neuroscience 2022 - “...2014 ; Dikic and Elazar, 2018 ; van der Beek et al., 2019 ) Huntingtin/Htt P42859 (HD_MOUSE), Huntington disease protein homolog; Yes Yes SV-visitor Yes Synapse, Presynapse; SV Scaffolding adaptor recruited to autophagosomes ( Deng et al., 2017 ; Stavoe and Holzbaur, 2018 ; Cason et...”
- Identification of Full-Length Wild-Type and Mutant Huntingtin Interacting Proteins by Crosslinking Immunoprecipitation in Mice Brain Cortex
Sap, Journal of Huntington's disease 2021 - “...[ 43 ] Q8C0C7 Farsa 1.18 1.4E-02 1.50 8.2E-04 Q6NS60 Fbxo41 1.23 4.5E-03 1.20 4.8E-03 P42859 Htt 7.40 4.4E-08 5.75 1.5E-06 Q8BKC5 Ipo5 2.81 1.0E-02 2.46 1.8E-02 P28740 Kif2a 1.77 7.1E-03 1.85 1.3E-02 [ 43 ] P28738 Kif5c 1.20 9.7E-04 1.08 1.1E-03 [ 43 ] Q91XU3...”
- Proteomic Profiling of Mouse Brains Exposed to Blast-Induced Mild Traumatic Brain Injury Reveals Changes in Axonal Proteins and Phosphorylated Tau
Chen, Journal of Alzheimer's disease : JAD 2018 - “...nucleotide exchange factor (GEF) 2(Arhgef2) Learning O88587 Catechol-O-methyltransferase(Comt) O35927 Catenin (cadherin associated protein), delta 2(Ctnnd2) P42859 Huntingtin(Htt) P31324 Protein kinase, cAMP dependent regulatory, type II beta(Prkar2b) Axon guidance P97427 Collapsin response mediator protein 1(Crmp1) Q9EQF6 Dihydropyrimidinase-like 5(Dpys15) O08917 Flotillin 1(Flot1) P06837 Growth associated protein 43(Gap43) P13595...”
- “...beta 2A class IIA(Tubb2a) Regulation of synaptic plasticity O35927 Catenin (cadherin associated protein), delta 2(Ctnnd2) P42859 Huntingtin(Htt) P13595 Neural cell adhesion molecule 1(Ncam1) CC Axon P63054 Purkinje cell protein 4(Pcp4) O88587 Catechol-O-methyltransferase(Comt) P48320 Glutamic acid decarboxylase 2(Gad2) P06837 Growth associated protein 43(Gap43) P42859 Huntingtin(Htt) P33173 Kinesin...”
- Characterization, developmental expression and evolutionary features of the huntingtin gene in the amphioxus Branchiostoma floridae
Candiani, BMC developmental biology 2007 - “...sequence alignments were carried out using the huntingtin sequences from Homo sapiens (P42858), Mus musculus (P42859), Rattus norvegicus (P51111), Sus scrofa (BAA36752), Danio rerio (AAC63983), Fugu rubripes (P51112), Tetraodon negroviridis (CAG03293), and Ciona intestinalis (AM162277). We also used the sequences of Xenopus tropicalis , Gallus gallus...”
NP_034544 huntingtin from Mus musculus
G3X9H5 Huntingtin from Mus musculus
Aligns to 737:1613 / 3120 (28.1%), covers 99.9% of PF12372, 1125.6 bits
- Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice.
Kuijper, Neurobiology of disease 2024 (PubMed)- GeneRIF: Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice.
- Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
Driscoll, Scientific reports 2024 - GeneRIF: Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
- Lowering mutant huntingtin by small molecules relieves Huntington's disease symptoms and progression.
Bahat, EMBO molecular medicine 2024 - GeneRIF: Lowering mutant huntingtin by small molecules relieves Huntington's disease symptoms and progression.
- AAV5-miHTT-mediated huntingtin lowering improves brain health in a Huntington's disease mouse model.
Thomson, Brain : a journal of neurology 2023 - GeneRIF: AAV5-miHTT-mediated huntingtin lowering improves brain health in a Huntington's disease mouse model.
- Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington's disease.
Bergh, Neuropathology and applied neurobiology 2023 (PubMed)- GeneRIF: Effects of mutant huntingtin in oxytocin neurons on non-motor features of Huntington's disease.
- Huntingtin recruits KIF1A to transport synaptic vesicle precursors along the mouse axon to support synaptic transmission and motor skill learning.
Vitet, eLife 2023 - GeneRIF: Huntingtin recruits KIF1A to transport synaptic vesicle precursors along the mouse axon to support synaptic transmission and motor skill learning.
- Amyloid modifier SERF1a interacts with polyQ-expanded huntingtin-exon 1 via helical interactions and exacerbates polyQ-induced toxicity.
Tsai, Communications biology 2023 - GeneRIF: Amyloid modifier SERF1a interacts with polyQ-expanded huntingtin-exon 1 via helical interactions and exacerbates polyQ-induced toxicity.
- Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
Bragg, Life science alliance 2023 - GeneRIF: Huntingtin loss in hepatocytes is associated with altered metabolism, adhesion, and liver zonation.
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- CTRP6 promotes the macrophage inflammatory response, and its deficiency attenuates LPS-induced inflammation.
Xu, The Journal of biological chemistry 2024 - “...G5E8A7 S271 0.763 0.0470 Rasal2 RAS protein activator-like 2 E9PW37 T131 0.766 0.0281 Htt Huntingtin G3X9H5 S2917 0.771 0.0437 Map4 Microtubule-associated protein 4 P27546 S345 0.773 0.0176 Psmd4 26S proteasome non-ATPase regulatory subunit 4 O35226 T250 0.773 0.0439 Map4k4 Mitogen-activated protein kinase kinase kinase kinase 4...”
Q59FF4 Huntingtin variant (Fragment) from Homo sapiens
Aligns to 154:1030 / 1147 (76.5%), covers 99.9% of PF12372, 1099.1 bits
NP_002102 huntingtin isoform 2 from Homo sapiens
Aligns to 758:1634 / 3144 (27.9%), covers 99.9% of PF12372, 1096.4 bits
- A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
Canosa, Clinical genetics 2024 (PubMed)- GeneRIF: A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
- Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum.
Mätlik, Nature genetics 2024 - GeneRIF: Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum.
- Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.
Pérez-Oliveira, Brain pathology (Zurich, Switzerland) 2024 - GeneRIF: Huntingtin CAG repeats in neuropathologically confirmed tauopathies: Novel insights.
- Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.
Louessard, Journal of Huntington's disease 2024 - GeneRIF: Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions.
- Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
Ruiz, European journal of human genetics : EJHG 2024 - GeneRIF: Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
- Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Hoschek, Molecular medicine (Cambridge, Mass.) 2024 - GeneRIF: Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
- Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.
Salem, Neurobiology of disease 2024 (PubMed)- GeneRIF: Evidence of mutant huntingtin and tau-related pathology within neuronal grafts in Huntington's disease cases.
- Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.
Lee, Human molecular genetics 2023 (PubMed)- GeneRIF: Huntingtin turnover: modulation of huntingtin degradation by cAMP-dependent protein kinase A (PKA) phosphorylation of C-HEAT domain Ser2550.
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HD_HUMAN / P42858 Huntingtin; Huntington disease protein; HD protein from Homo sapiens (Human) (see 24 papers)
Aligns to 756:1632 / 3142 (27.9%), covers 99.9% of PF12372, 1096.4 bits
- function: [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function
function: [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles.
subunit: Interacts with PFN1 (PubMed:18573880). Interacts through its N-terminus with PRPF40A (PubMed:9700202). Interacts with PQBP1 (PubMed:10332029). Interacts with SETD2 (PubMed:10958656, PubMed:11461154, PubMed:9700202). 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:28757145, PubMed:28882895). Interacts with F8A1/F8A2/F8A3 (PubMed:16476778, PubMed:29466333). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A (PubMed:16476778). - Enzymatic Metabolic Switches of Astrocyte Response to Lipotoxicity as Potential Therapeutic Targets for Nervous System Diseases.
Angarita-Rodríguez, Pharmaceuticals (Basel, Switzerland) 2024 - “...used in alcohol dependence Glycolysis and fatty acid oxidation modulation 2 Q99714 HSD17B10 ACAA1, EHHADH P42858 HTT GAPDH Haloperidol (CHEMBL54) Butyrophenone derivatives Modulation of lipid metabolism 2 Q15125 EBP TM7SF2 Q99720 SIGMAR1 TM7SF2 PKM: Pyruvate kinase; EBP: 3-Beta-hydroxysteroid-Delta(8), Delta(7)-isomerase; SIGMAR1: Sigma non-opioid intracellular receptor 1; HSD17B10:...”
- Leaderless secretory proteins of the neurodegenerative diseases via TNTs: a structure-function perspective.
Padmanabhan, Frontiers in molecular neuroscience 2023 - “...Autophagy secretion-presence of LIR motif * Unconventional secretion TNT mode secretion References Huntingtons disease Huntingtin (P42858) 3,142 PolyQ Intracellular (cytosolic and nuclear) Yes Yes Yes Sharma and Subramaniam (2019) Amyotrophic lateral sclerosis TDP-43(Q13148) 414 C-terminal domain Cytoplasmic aggregates Yes Yes Yes Tardivel et al. (2016) FUS...”
- Splicing Modulators Are Involved in Human Polyglutamine Diversification via Protein Complexes Shuttling between Nucleus and Cytoplasm.
Shimada, International journal of molecular sciences 2023 - “...and structured domains in each protein. Protein identifiers of UniProt (i.e., UniProt accessions such as P42858) [ 38 ] were used as queries for the D 2 P 2 search. (3) Review of signaling pathways that explain the effect of HTT polyQ length on neurite length:...”
- Inhibition of ERK signaling for treatment of ERRα positive TNBC.
Musheyev, PloS one 2023 - “...protein 44 WDR44 163 Q13547 Histone deacetylase 1 HDAC1 421 Q96RT1-7 Protein LAP2 ERBB2IP 1015 P42858 Huntingtin HTT 432 Q13158 FAS-associated death domain protein FADD 194 Q9NXH8 Torsin-4A TOR4A 63 Q8IYB3-2 Serine/arginine repetitive matrix protein 1 SRRM1 595 Q9UQ35 Serine/arginine repetitive matrix protein 2 SRRM2 1014...”
- Circulating Proteins Associated with Response and Resistance to Neoadjuvant Chemotherapy in HER2-Positive Breast Cancer.
Chantada-Vázquez, Cancers 2022 - “...CRP C-reactive protein 0.00000134 6.829624202 Non-responders P0DOX3 N/A Immunoglobulin delta heavy chain 0.036959856 2.75912755 Non-responders P42858 HTT Huntingtin 0.001165915 2.485533233 Non-responders A0A075B6I1 IGLV4-60 Immunoglobulin lambda variable 4-60 0.000406597 2.458347205 Non-responders A0A0A0MT36 IGKV6D-21 Immunoglobulin kappa variable 6D-21 0.003581497 2.197533513 Non-responders P0DJI8 SAA1 Serum amyloid A-1 protein 0.00604557...”
- Calmodulin Binding Domains in Critical Risk Proteins Involved in Neurodegeneration.
O'Day, Current issues in molecular biology 2022 - “..., 26 ]. A Calmodulin Target Database search was carried out for both. Human HTT (P42858) shows two CaMBDs: CaMBD1 (177NGAPRSLRAALWRFAELAHLVR197) containing 3 motifs (1-12, 1-8-14, 1-5-10) and CaMBD2 (2535PLKALDTRFGRKLSIIRGIV2554) with 5 motifs (three 1-12, 1-8-14, 1-16; Table 3 ). Two CaMBDs were detected in human...”
- “...in Huntingtons risk proteins. Protein/Uniprot CaMBD Sequence/Binding Motif 112 Huntingtin/ 177NGAPRS L RAALWRFAEL A HLVR197 P42858 1814 177NGAPRS L RAALWR F AELAH L VR197 1510 177NGAPRSLRAA L WRF A ELAH L VR197 112 Huntingtin/ 2535P L KALDTRFGRK L SIIRGIV2554 P42858 1814 2535P L KALDTR F GRKLS...”
- 14-3-3 Proteins are Potential Regulators of Liquid-Liquid Phase Separation.
Huang, Cell biochemistry and biophysics 2022 - “...222 ] HSF1 Q00613 Transcription factor LLPS in cells. [ 223 , 224 ] HTT P42858 microtubule-mediated transport LLPS in cells. [ 225 ] LATS1 O95835 Cellular signaling LLPS in cells [ 226 ] MPRIP Q6WCQ1 actin filament binding protein LLPS in cells. [ 227 ]...”
- How Far Are We from the Completion of the Human Protein Interactome Reconstruction?
Dimitrakopoulos, Biomolecules 2022 - “...versions with this increase attributed to one study [ 37 ] and Huntingtin (UniProt ID P42858), which showed an increment from 248 in PICKLE 2.6 to 903 PPIs in PICKLE 3.2, based on a 2020 study [ 32 ]. The conclusion about an almost complete reconstruction...”
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XP_536221 huntingtin isoform X1 from Canis lupus familiaris
Aligns to 746:1622 / 3130 (28.0%), covers 99.9% of PF12372, 1092.5 bits
- Huntingtin facilitates polycomb repressive complex 2
Seong, Human molecular genetics 2010 - “...( 50 ). Huntingtin orthologues for the multiple sequence alignments: dog ( Canis familiaris ; XP_536221), mouse ( Mus musculus ; AAA89100), opossum ( Monodelphis domestica ; XP_001364862), chicken ( Gallus gallus ; XP_420822), zebrafish ( Danio rerio ; NP_571093); lancelet ( Branchiostoma floridae ; ABP04240)...”
XP_001364862 huntingtin isoform X1 from Monodelphis domestica
Aligns to 749:1625 / 3135 (28.0%), covers 99.9% of PF12372, 1078.7 bits
- Huntingtin facilitates polycomb repressive complex 2
Seong, Human molecular genetics 2010 - “...Canis familiaris ; XP_536221), mouse ( Mus musculus ; AAA89100), opossum ( Monodelphis domestica ; XP_001364862), chicken ( Gallus gallus ; XP_420822), zebrafish ( Danio rerio ; NP_571093); lancelet ( Branchiostoma floridae ; ABP04240) and sea squirt ( Ciona intestinalis ; NP_001119700), were aligned using ClustalW2...”
XP_420822 LOW QUALITY PROTEIN: huntingtin isoform X1 from Gallus gallus
Aligns to 710:1586 / 3095 (28.3%), covers 99.9% of PF12372, 1067.4 bits
- Huntingtin facilitates polycomb repressive complex 2
Seong, Human molecular genetics 2010 - “...Mus musculus ; AAA89100), opossum ( Monodelphis domestica ; XP_001364862), chicken ( Gallus gallus ; XP_420822), zebrafish ( Danio rerio ; NP_571093); lancelet ( Branchiostoma floridae ; ABP04240) and sea squirt ( Ciona intestinalis ; NP_001119700), were aligned using ClustalW2 (European Bioinformatics Institute: http://www.ebi.ac.uk/Tools/clustalw2/ ) (...”
XP_005160073 huntingtin isoform X5 from Danio rerio
Aligns to 708:1606 / 3115 (28.9%), covers 99.9% of PF12372, 1019.3 bits
NP_571093 huntingtin from Danio rerio
Aligns to 708:1606 / 3121 (28.8%), covers 99.9% of PF12372, 1018.6 bits
- The evolution of the huntingtin-associated protein 40 (HAP40) in conjunction with huntingtin
Seefelder, BMC evolutionary biology 2020 - “...and HAP40 from zebrafish A cDNA, human codon-optimized and coding for full-length zebrafish HTT (NCBI NP_571093) and c-terminally fused to a FLAG-His affinity tag, was generated by DNA synthesis (Thermofisher). The cDNA was cloned into plasmid vector pTRE-Tight-BI-AcGFP1 (Clontech) allowing for co-expression of zebrafish-HTT and GFP...”
- Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish
Palstra, PloS one 2013 - “...3, epithelial isoform 1 [R. norvegicus] 1195 NP_113993 1.70E04 RefSeq W huntingtin [D. rerio] 580 NP_571093 4.42E91 Drerio R supervillin [D. rerio] 1705 NP_001030338 0.0 Drerio R, W synaptopodin-2 [R. norvegicus] 513 NP_001178892 1.14E23 RefSeq R synemin [D. rerio] 655 NP_001038340 1.40E46 Drerio R, W tensin...”
- Huntingtin facilitates polycomb repressive complex 2
Seong, Human molecular genetics 2010 - “...Monodelphis domestica ; XP_001364862), chicken ( Gallus gallus ; XP_420822), zebrafish ( Danio rerio ; NP_571093); lancelet ( Branchiostoma floridae ; ABP04240) and sea squirt ( Ciona intestinalis ; NP_001119700), were aligned using ClustalW2 (European Bioinformatics Institute: http://www.ebi.ac.uk/Tools/clustalw2/ ) ( 51 ) and viewed and edited...”
HD_TAKRU / P51112 Huntingtin; Huntington disease protein homolog; HD protein homolog from Takifugu rubripes (Japanese pufferfish) (Fugu rubripes) (see paper)
Aligns to 714:1627 / 3148 (29.0%), covers 99.8% of PF12372, 1003.1 bits
- function: May play a role in microtubule-mediated transport or vesicle function
- Genetic Characteristic and RNA-Seq Analysis in Transparent Mutant of Carp-Goldfish Nucleocytoplasmic Hybrid.
Zhou, Genes 2019 - “...Up G_019763 Down P55918 MFAP4 miR-146a Up G_053967 Down P25291 GP2 miR-146a Up G_058480 Down P51112 htt miR-146a Up G_061471 Down O54951 Sema6b miR-146a Up G_084436 Down A2AAJ9 Obscn genes-10-00704-t006_Table 6 Table 6 Comparison of relative qPCR results with RNA-Seq results. Gene ID Gene Name FC...”
- Characterization, developmental expression and evolutionary features of the huntingtin gene in the amphioxus Branchiostoma floridae.
Candiani, BMC developmental biology 2007 - “...(P42858), Mus musculus (P42859), Rattus norvegicus (P51111), Sus scrofa (BAA36752), Danio rerio (AAC63983), Fugu rubripes (P51112), Tetraodon negroviridis (CAG03293), and Ciona intestinalis (AM162277). We also used the sequences of Xenopus tropicalis , Gallus gallus and Ciona savigny predicted from genomic sequences by Gissi et al ....”
XP_006822985 huntingtin from Saccoglossus kowalevskii
2 alignments in 666:1831 / 2816 (36.5%), covering up to 99.6% of PF12372, 920.4 bits
XP_005093645 huntingtin from Aplysia californica
Aligns to 608:1494 / 3024 (29.3%), covers 99.9% of PF12372, 879.7 bits
8vlxA / P42858 8vlxA
3 alignments in 384:1081 / 2431 (28.7%), covering up to 46.1% of PF12372, 865.8 bits
- Ligand: n-[(1s,2r)-2-benzylcyclopentyl]-n'-{1-[(1s)-1-(pyridin-4-yl)ethyl]piperidin-4-yl}urea (8vlxA)
NP_001263041 huntingtin, isoform B from Drosophila melanogaster
3 alignments in 1613:2836 / 3583 (32.2%), covering up to 100.0% of PF12372, 846.6 bits
- Huntingtin Plays a Role in the Physiological Response to Ethanol in Drosophila.
Clabough, Journal of Huntington's disease 2023 (PubMed)- GeneRIF: Huntingtin Plays a Role in the Physiological Response to Ethanol in Drosophila.
- The ubiquitin thioesterase YOD1 ameliorates mutant Huntingtin induced pathology in Drosophila.
Farkas, Scientific reports 2023 - GeneRIF: The ubiquitin thioesterase YOD1 ameliorates mutant Huntingtin induced pathology in Drosophila.
- Htt is a repressor of Abl activity required for APP-induced axonal growth.
Marquilly, PLoS genetics 2021 - GeneRIF: Htt is a repressor of Abl activity required for APP-induced axonal growth.
- Circadian Clocks Function in Concert with Heat Shock Organizing Protein to Modulate Mutant Huntingtin Aggregation and Toxicity.
Xu, Cell reports 2019 - GeneRIF: Application of a behavioral platform to screen for clock-regulated Huntington's Disease suppressors, identifies a role for Heat Shock Protein 70/90 Organizing Protein (Hop). Hop knockdown paradoxically reduces mutant Htt aggregation and toxicity. This reveals a clock-regulated molecular and cellular pathway that links clock function to neurodegenerative disease.
- Ataxin2 functions via CrebA to mediate Huntingtin toxicity in circadian clock neurons.
Xu, PLoS genetics 2019 - GeneRIF: Loss of CrebA also partially suppresses mHtt effects on behavior and cell loss and restoration of CrebA can suppress Atx2 effects. Our results indicate a prominent role of Atx2 in mediating mHtt pathology, specifically via its regulation of CrebA, defining a novel molecular pathway in Huntington's disease pathogenesis.
- The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway.
Calpena, Disease models & mechanisms 2018 - GeneRIF: Jp modifies the neuronal degeneration in a Drosophila model of Huntington's disease, and it has uncoveedr an unsuspected functional relationship with the Notch pathway.
- Loss of Huntingtin stimulates capture of retrograde dense-core vesicles to increase synaptic neuropeptide stores.
Bulgari, European journal of cell biology 2017 - GeneRIF: These results therefore identify native Htt as a regulator of synaptic capture and neuropeptide storage.
- Mutant Huntingtin Disrupts the Nuclear Pore Complex.
Grima, Neuron 2017 - GeneRIF: Mutant HTT causes severe mislocalization and aggregation of nucleoporins and defective nucleocytoplasmic transport.
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DDB_G0272344, XP_645159 Huntingtin family protein from Dictyostelium discoideum AX4
Aligns to 584:1085 / 3095 (16.2%), covers 62.7% of PF12372, 115.2 bits
- In Silico Analysis of Huntingtin Homologs in Lower Eukaryotes
Brandi, International journal of molecular sciences 2021 - “...[ 9 ]. The Dictyostelium genome possesses a single gene coding for Htt (dictyBase ID: DDB_G0272344). It is located on chromosome 2 and consist of four exons [ 10 ]. Although Dictyostelium naturally encodes proteins that in other organisms lead to the formation of toxic aggregates,...”
- Calmodulin and Calmodulin Binding Proteins in Dictyostelium: A Primer
O'Day, International journal of molecular sciences 2020 - “...Drainin DDB_G0269130 380RTALSILRYFIS391 N [ 13 ] fAR1 DDB_G0281211 611CVLIIFGAKFWKIYKPVEDD630 N [ 13 ] Htt DDB_G0272344 1885LDLRKKQLLRLLSL1896 N [ 13 ] IplA DDB_G0292564 841VSKGRNYNGI850 N [ 13 ] 850IRLVGQRITHKECL863 N [ 13 ] MIHCK/pakB DDB0191345 150AFRKAYHTLDLSKSGASGRY169 N [ 14 ] MHCK-A/mhkA DDB0216274 535FVSLARIVKINVGTREIRV553 N [ 14...”
- Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum
Myre, PLoS genetics 2011 - GeneRIF: Dictyostelium huntingtin was expressed throughout growth and development. Huntingtin-null cells display pleiotropic phenotypes with actin cytoskeleton and contractile vacuole defects .
- “...Dictyostelium discoideum genome, examined via dictyBase ( www.dictybase.org ) [28] , contains a single gene (DDB_G0272344) with evident sequence homology to human huntingtin. The hd locus is comprised of four exons, located on chromosome 2. Analysis of GenBank with psi-BLAST [29] , [30] placed the product...”
Or search for genetic data about PF12372 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory