Family Search for PF12372 (DUF3652)
PF12372 hits 17 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
Q59FF4 Huntingtin variant (Fragment) from Homo sapiens
Aligns to 911:951 / 1147 (3.6%), covers 100.0% of PF12372, 76.9 bits
XP_420822 LOW QUALITY PROTEIN: huntingtin isoform X1 from Gallus gallus
Aligns to 1467:1507 / 3095 (1.3%), covers 100.0% of PF12372, 76.3 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_006822985 huntingtin from Saccoglossus kowalevskii
Aligns to 1471:1511 / 2816 (1.5%), covers 100.0% of PF12372, 76.2 bits
XP_536221 huntingtin isoform X1 from Canis lupus familiaris
Aligns to 1503:1543 / 3130 (1.3%), covers 100.0% of PF12372, 76.0 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)...”
P51111 Huntingtin from Rattus norvegicus
Aligns to 1484:1524 / 3110 (1.3%), covers 100.0% of PF12372, 75.8 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 1493:1533 / 3119 (1.3%), covers 100.0% of PF12372, 75.8 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). - 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...”
XP_008248081 huntingtin from Oryctolagus cuniculus
Aligns to 1426:1466 / 3053 (1.3%), covers 100.0% of PF12372, 75.8 bits
NP_034544 huntingtin from Mus musculus
Aligns to 1494:1534 / 3120 (1.3%), covers 100.0% of PF12372, 75.8 bits
- Huntingtin protein maintains balanced energetics in mouse cardiomyocytes.
Tomczyk, Nucleosides, nucleotides & nucleic acids 2022 (PubMed)- GeneRIF: Huntingtin protein maintains balanced energetics in mouse cardiomyocytes.
- Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity.
Ratovitski, Human molecular genetics 2022 - GeneRIF: Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity.
- Suppression of toxicity of the mutant huntingtin protein by its interacting compound, desonide.
Song, Proceedings of the National Academy of Sciences of the United States of America 2022 - GeneRIF: Suppression of toxicity of the mutant huntingtin protein by its interacting compound, desonide.
- Huntingtin coordinates dendritic spine morphology and function through cofilin-mediated control of the actin cytoskeleton.
Wennagel, Cell reports 2022 (PubMed)- GeneRIF: Huntingtin coordinates dendritic spine morphology and function through cofilin-mediated control of the actin cytoskeleton.
- Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model.
Marchionini, JCI insight 2022 - GeneRIF: Benefits of global mutant huntingtin lowering diminish over time in a Huntington's disease mouse model.
- Shape deformation analysis reveals the temporal dynamics of cell-type-specific homeostatic and pathogenic responses to mutant huntingtin.
Megret, eLife 2021 - GeneRIF: Shape deformation analysis reveals the temporal dynamics of cell-type-specific homeostatic and pathogenic responses to mutant huntingtin.
- Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease.
Eshraghi, Nature communications 2021 - GeneRIF: Mutant Huntingtin stalls ribosomes and represses protein synthesis in a cellular model of Huntington disease.
- Huntingtin silencing delays onset and slows progression of Huntington's disease: a biomarker study.
Liu, Brain : a journal of neurology 2021 - GeneRIF: Huntingtin silencing delays onset and slows progression of Huntington's disease: a biomarker study.
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NP_077333 huntingtin from Rattus norvegicus
Aligns to 1494:1534 / 3120 (1.3%), covers 100.0% of PF12372, 75.8 bits
- 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.
- 17β-Estradiol modulates huntingtin levels in rat tissues and in human neuroblastoma cell line.
Nuzzo, Neuroscience research 2016 (PubMed)- GeneRIF: Huntingtin is an E2-inducible protein involved in the first steps of E2-induced signaling pathways committed to neuronal protection against oxidative stress.
- Folding Landscape of Mutant Huntingtin Exon1: Diffusible Multimers, Oligomers and Fibrils, and No Detectable Monomer.
Sahoo, PloS one 2016 - GeneRIF: Compared to other known markers of HTT toxicity, nuclear DNA damage appears to be a relatively early pathological event.
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NP_002102 huntingtin isoform 2 from Homo sapiens
Aligns to 1515:1555 / 3144 (1.3%), covers 100.0% of PF12372, 75.6 bits
- Inhibition of HIPK3 by AST487 Ameliorates Mutant HTT-Induced Neurotoxicity and Apoptosis via Enhanced Autophagy.
Zhang, Neuroscience bulletin 2022 - GeneRIF: Inhibition of HIPK3 by AST487 Ameliorates Mutant HTT-Induced Neurotoxicity and Apoptosis via Enhanced Autophagy.
- Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity.
Ratovitski, Human molecular genetics 2022 - GeneRIF: Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity.
- Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.
Langbehn, American journal of human genetics 2022 - GeneRIF: Longer CAG repeat length is associated with shorter survival after disease onset in Huntington disease.
- Differential roles for DNAJ isoforms in HTT-polyQ and FUS aggregation modulation revealed by chaperone screens.
Rozales, Nature communications 2022 - GeneRIF: Differential roles for DNAJ isoforms in HTT-polyQ and FUS aggregation modulation revealed by chaperone screens.
- Investigation of the Influence of TBP CAG/CAA Repeats in Conjunction with HTT CAG Repeats on Huntington's Disease Age at Onset in a Brazilian Sample.
da, Journal of molecular neuroscience : MN 2022 (PubMed)- GeneRIF: Investigation of the Influence of TBP CAG/CAA Repeats in Conjunction with HTT CAG Repeats on Huntington's Disease Age at Onset in a Brazilian Sample.
- Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT).
Reasoner, Journal of Huntington's disease 2022 - GeneRIF: Cortical Features in Child and Adolescent Carriers of Mutant Huntingtin (mHTT).
- Physicochemical Properties Altered by the Tail Group of Lipid Membranes Influence Huntingtin Aggregation and Lipid Binding.
Beasley, The journal of physical chemistry. B 2022 (PubMed)- GeneRIF: Physicochemical Properties Altered by the Tail Group of Lipid Membranes Influence Huntingtin Aggregation and Lipid Binding.
- Intermediate alleles of HTT: A new pathway in longevity.
Ingannato, Journal of the neurological sciences 2022 (PubMed)- GeneRIF: Intermediate alleles of HTT: A new pathway in longevity.
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HD_HUMAN / P42858 Huntingtin; Huntington disease protein; HD protein from Homo sapiens (Human) (see 24 papers)
Aligns to 1513:1553 / 3142 (1.3%), covers 100.0% of PF12372, 75.6 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: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). - Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity.
Incebacak, Frontiers in molecular neuroscience 2022 - “...sites at amino acid positions T467 and S534 (positions based on UniProt reference isoform; identifier: P42858; Figure 2A ) protected polyQ-expanded HTT from calpain-mediated fragmentation, consequently lowering levels of N-terminal fragments, and reducing HTT aggregation and cytotoxicity (Gafni et al., 2004 ). Interestingly, mimicking the phosphorylation...”
- “...sites in huntingtin protein (HTT), ataxin-3 (Atx3), and TATA box-binding protein (TBP). (A) HTT (UniProt-ID: P42858) features, aside from its N-terminal polyQ tract, five HEAT repeats, three of the latter being localized within the first 500 amino acids. Moreover, HTT contains a C-terminal nuclear export signal...”
- 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...”
- Medication Rules in Herbal Medicine for Mild Cognitive Impairment: A Network Pharmacology and Data Mining Study.
Chang, Evidence-based complementary and alternative medicine : eCAM 2022 - “...Heme oxygenase 1 11 IL10 P22301 Interleukin-10 12 MTOR P42345 Serine/threonine-protein kinase mTOR 13 HTT P42858 Huntingtin 14 NOS3 P29474 Nitric oxide synthase, endothelial 15 COL1A2 P08123 Collagen alpha-2(I) chain 16 GLB1 P16278 Beta-galactosidase 17 DPP4 P27487 Dipeptidy peptidase 4 18 TP53 P04637 Cellular tumor antigen...”
- 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...”
- 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 ]...”
- 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...”
- The Role of Low Complexity Regions in Protein Interaction Modes: An Illustration in Huntingtin.
Kastano, International journal of molecular sciences 2021 - “...Structure of the Complex of HTT with HAP40 While human HTT (database record in UniProt: P42858) has already been known to be largely composed of alpha-helical tandem repeats since 1995 [ 9 ], it was not until 2018 that most of its structure was solved by...”
- “...LCRs in HTT and HAP40: Categories, Overlap, and Conservation Regarding the HTT alignment (with human P42858 as the leading sequence; group number #4; alignment available in Supplementary File S4 ), we detected 15 LCRs: zero CCs, four IDRs, seven CBRs, and four polyX ( Table 3...”
- Posiphen Reduces the Levels of Huntingtin Protein through Translation Suppression.
Chen, Pharmaceutics 2021 - “...5-UTRs following Posiphen treatment of SH-SY5Y cells. Symbol Entrez Gene Name UniProt Heavy/Light HTT Huntingtin P42858 0.479 APP Amyloid beta A4 protein P05067 0.728 TARDBP TAR DNA-binding protein 43 Q13148 0.761 SNCA Alpha-synuclein P37840 0.779 SOD1 Superoxide dismutase [Cu-Zn] P00441 1.072 FTL Ferritin light chain P02792...”
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XP_001364862 huntingtin isoform X3 from Monodelphis domestica
Aligns to 1506:1546 / 3135 (1.3%), covers 100.0% of PF12372, 73.7 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_005160073 huntingtin isoform X5 from Danio rerio
Aligns to 1487:1527 / 3115 (1.3%), covers 100.0% of PF12372, 72.2 bits
NP_571093 huntingtin from Danio rerio
Aligns to 1487:1527 / 3121 (1.3%), covers 100.0% of PF12372, 72.2 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 1508:1548 / 3148 (1.3%), covers 100.0% of PF12372, 71.5 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 ....”
NP_001263041 huntingtin, isoform B from Drosophila melanogaster
Aligns to 2717:2759 / 3583 (1.2%), covers 97.6% of PF12372, 66.3 bits
- 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.
- Early-onset sleep defects in Drosophila models of Huntington's disease reflect alterations of PKA/CREB signaling.
Gonzales, Human molecular genetics 2016 - GeneRIF: Early-onset sleep defects in mutated HTT Drosophila models of Huntington's disease reflect alterations of PKA/CREB signaling.
- Altered lipid metabolism in Drosophila model of Huntington's disease.
Aditi, Scientific reports 2016 - GeneRIF: Data strongly suggest that mutant Htt expression exclusively in all the CNS and PNS neurons leads to fluctuation of body weight, carbohydrate and protein stores, global lipid levels along with the intracellular lipid deposits through its effect on the integrated process of metabolic homeostasis. These results also support the idea that lipid metabolism remains centrally affected in HD leading to altered body weight.
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XP_005093645 huntingtin from Aplysia californica
Aligns to 1375:1415 / 3024 (1.4%), covers 100.0% of PF12372, 55.8 bits
Or search for genetic data about PF12372 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory