Details for: HTT

Gene ID: 3064

Symbol: HTT

Ensembl ID: ENSG00000197386

Description: huntingtin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 323.3786
    Cell Significance Index: -50.3000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 195.8655
    Cell Significance Index: -49.6800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 98.8537
    Cell Significance Index: -40.1600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 91.1962
    Cell Significance Index: -46.9100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 42.2732
    Cell Significance Index: -40.3600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 41.5181
    Cell Significance Index: -51.1900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.8807
    Cell Significance Index: -47.9000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.3185
    Cell Significance Index: -47.0500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 13.0409
    Cell Significance Index: -51.4600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.5652
    Cell Significance Index: -27.5000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.3576
    Cell Significance Index: 472.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.9490
    Cell Significance Index: 386.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.8577
    Cell Significance Index: 666.3400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.6592
    Cell Significance Index: 114.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.5432
    Cell Significance Index: 68.2600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.4524
    Cell Significance Index: 97.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.4094
    Cell Significance Index: 53.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.3654
    Cell Significance Index: 76.6200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.1261
    Cell Significance Index: 31.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.0830
    Cell Significance Index: 66.5700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.0749
    Cell Significance Index: 25.7800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0041
    Cell Significance Index: 13.7000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9958
    Cell Significance Index: 688.7500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9396
    Cell Significance Index: 152.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.9308
    Cell Significance Index: 71.4300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.9225
    Cell Significance Index: 23.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9058
    Cell Significance Index: 98.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.8753
    Cell Significance Index: 22.5000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.7947
    Cell Significance Index: 15.5100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7146
    Cell Significance Index: 20.5900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6783
    Cell Significance Index: 40.7200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.6528
    Cell Significance Index: 18.6300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5987
    Cell Significance Index: 12.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.5383
    Cell Significance Index: 97.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.4227
    Cell Significance Index: 19.1600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3744
    Cell Significance Index: 37.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3668
    Cell Significance Index: 45.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3088
    Cell Significance Index: 168.6200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2553
    Cell Significance Index: 115.9000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2437
    Cell Significance Index: 28.7400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2277
    Cell Significance Index: 428.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1858
    Cell Significance Index: 286.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1568
    Cell Significance Index: 26.7800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1501
    Cell Significance Index: 276.8700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1474
    Cell Significance Index: 5.1800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1465
    Cell Significance Index: 2.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1380
    Cell Significance Index: 61.0300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1277
    Cell Significance Index: 81.1100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.1136
    Cell Significance Index: 154.5100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0502
    Cell Significance Index: 45.3700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0323
    Cell Significance Index: 4.4300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0168
    Cell Significance Index: 3.2000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0111
    Cell Significance Index: -0.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0213
    Cell Significance Index: -3.1000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0213
    Cell Significance Index: -0.5700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0387
    Cell Significance Index: -28.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0520
    Cell Significance Index: -39.3400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0555
    Cell Significance Index: -41.0800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0828
    Cell Significance Index: -46.7200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0923
    Cell Significance Index: -57.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0963
    Cell Significance Index: -5.0100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1069
    Cell Significance Index: -5.0300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1403
    Cell Significance Index: -6.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1559
    Cell Significance Index: -44.8500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1667
    Cell Significance Index: -17.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1795
    Cell Significance Index: -20.9200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1880
    Cell Significance Index: -24.1000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2151
    Cell Significance Index: -4.5800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2370
    Cell Significance Index: -5.1900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2383
    Cell Significance Index: -15.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2417
    Cell Significance Index: -31.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2656
    Cell Significance Index: -55.9400
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2808
    Cell Significance Index: -2.2900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3114
    Cell Significance Index: -23.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3194
    Cell Significance Index: -33.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3282
    Cell Significance Index: -37.6000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3394
    Cell Significance Index: -17.6800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3714
    Cell Significance Index: -3.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4065
    Cell Significance Index: -28.7500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4681
    Cell Significance Index: -5.5800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.5234
    Cell Significance Index: -14.0300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5308
    Cell Significance Index: -27.8700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5351
    Cell Significance Index: -42.3800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.5365
    Cell Significance Index: -6.6900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.5691
    Cell Significance Index: -12.1700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.6473
    Cell Significance Index: -9.3000
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.6605
    Cell Significance Index: -9.5000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.6955
    Cell Significance Index: -9.9600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.7345
    Cell Significance Index: -15.5900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.7535
    Cell Significance Index: -9.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7573
    Cell Significance Index: -46.4300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.8608
    Cell Significance Index: -27.5700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8873
    Cell Significance Index: -28.2600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8965
    Cell Significance Index: -29.3500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.9076
    Cell Significance Index: -23.8700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.9214
    Cell Significance Index: -13.6000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.9249
    Cell Significance Index: -15.5800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.9364
    Cell Significance Index: -32.5400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.9381
    Cell Significance Index: -18.5500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.9573
    Cell Significance Index: -10.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Expression Pattern:** Huntingtin is predominantly expressed in neurons, with high levels observed in the cerebral cortex, basal ganglia, and brainstem. 2. **Protein Structure:** The huntingtin protein consists of 153 amino acids and is characterized by a polyglutamine tract, which is thought to be responsible for its misfolding and aggregation. 3. **Cellular Localization:** Huntingtin is primarily localized to the cytosol, where it interacts with various proteins and microtubules. 4. **Function:** Huntingtin regulates multiple cellular processes, including apoptosis, autophagy, and microtubule-based transport, through interactions with various proteins and signaling pathways. **Pathways and Functions:** 1. **Apoptotic Process:** Huntingtin regulates apoptosis by interacting with pro-apoptotic and anti-apoptotic proteins, thereby modulating the balance between cell survival and death. 2. **Autophagosome and Autophagy:** Huntingtin is involved in the regulation of autophagy, a cellular process that involves the degradation and recycling of cellular components. 3. **Microtubule-Based Transport:** Huntingtin interacts with microtubules, regulating the transport of vesicles and proteins along the microtubule network. 4. **Gene Expression:** Huntingtin regulates gene expression by interacting with transcription factors and chromatin remodeling complexes. 5. **Signaling Pathways:** Huntingtin modulates various signaling pathways, including the mTOR, PI3K/Akt, and MAPK/ERK pathways. **Clinical Significance:** 1. **Huntington's Disease:** Mutations in the HTT gene are the primary cause of Huntington's disease, a neurodegenerative disorder characterized by progressive neuronal degeneration. 2. **Other Neurodegenerative Diseases:** HTT has been implicated in other neurodegenerative diseases, including spinocerebellar ataxia and frontotemporal dementia. 3. **Cancer:** Huntingtin has been shown to have a tumor-suppressive role in certain types of cancer, including breast and lung cancer. 4. **Neurodevelopmental Disorders:** HTT has been linked to neurodevelopmental disorders, including autism and schizophrenia. In conclusion, the huntingtin gene plays a critical role in regulating various cellular processes, including apoptosis, autophagy, and microtubule-based transport. Mutations in the HTT gene have been implicated in several neurodegenerative diseases, highlighting the importance of understanding the complex mechanisms underlying this gene. Further research is necessary to elucidate the precise mechanisms by which HTT regulates cellular processes and to develop novel therapeutic strategies for the treatment of related diseases.

Genular Protein ID: 3633238995

Symbol: HD_HUMAN

Name: Huntingtin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8458085

Title: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

PubMed ID: 8458085

DOI: 10.1016/0092-8674(93)90585-e

PubMed ID: 11013077

Title: Identification and characterization of the miniature pig Huntington's disease gene homolog: evidence for conservation and polymorphism in the CAG triplet repeat.

PubMed ID: 11013077

DOI: 10.1006/geno.2000.6317

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 8197474

Title: Structure and expression of the Huntington's disease gene: evidence against simple inactivation due to an expanded CAG repeat.

PubMed ID: 8197474

DOI: 10.1007/bf02257483

PubMed ID: 7759106

Title: Structural analysis of the 5' region of mouse and human Huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms.

PubMed ID: 7759106

DOI: 10.1016/0888-7543(95)80014-d

PubMed ID: 7903579

Title: Differential 3' polyadenylation of the Huntington disease gene results in two mRNA species with variable tissue expression.

PubMed ID: 7903579

DOI: 10.1093/hmg/2.10.1541

PubMed ID: 7647777

Title: Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.

PubMed ID: 7647777

DOI: 10.1038/ng0595-104

PubMed ID: 8696339

Title: Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract.

PubMed ID: 8696339

DOI: 10.1038/ng0896-442

PubMed ID: 9535906

Title: Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract.

PubMed ID: 9535906

DOI: 10.1074/jbc.273.15.9158

PubMed ID: 9700202

Title: Huntingtin interacts with a family of WW domain proteins.

PubMed ID: 9700202

DOI: 10.1093/hmg/7.9.1463

PubMed ID: 10332029

Title: PQBP-1, a novel polyglutamine tract binding protein, inhibits transcription activation by Brn-2 and affects cell survival.

PubMed ID: 10332029

DOI: 10.1093/hmg/8.6.977

PubMed ID: 10770929

Title: Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells.

PubMed ID: 10770929

DOI: 10.1074/jbc.m001475200

PubMed ID: 10958656

Title: Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis.

PubMed ID: 10958656

DOI: 10.1093/hmg/9.14.2175

PubMed ID: 11461154

Title: Identification of the full-length huntingtin-interacting protein p231HBP/HYPB as a DNA-binding factor.

PubMed ID: 11461154

DOI: 10.1006/mcne.2001.1004

PubMed ID: 12783847

Title: Huntingtin contains a highly conserved nuclear export signal.

PubMed ID: 12783847

DOI: 10.1093/hmg/ddg156

PubMed ID: 15654337

Title: Polyglutamine expansion of huntingtin impairs its nuclear export.

PubMed ID: 15654337

DOI: 10.1038/ng1503

PubMed ID: 16391387

Title: Interaction of the nuclear matrix protein NAKAP with HypA and huntingtin: implications for nuclear toxicity in Huntington's disease pathogenesis.

PubMed ID: 16391387

DOI: 10.1385/nmm:7:4:297

PubMed ID: 16476778

Title: Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease.

PubMed ID: 16476778

DOI: 10.1083/jcb.200509091

PubMed ID: 17141218

Title: Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin.

PubMed ID: 17141218

DOI: 10.1016/j.yexcr.2006.10.031

PubMed ID: 17611284

Title: Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons.

PubMed ID: 17611284

DOI: 10.1523/jneurosci.1831-07.2007

PubMed ID: 18088087

Title: Phosphoproteome of resting human platelets.

PubMed ID: 18088087

DOI: 10.1021/pr0704130

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18573880

Title: Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation.

PubMed ID: 18573880

DOI: 10.1128/mcb.00079-08

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21685499

Title: Mass spectrometric identification of novel lysine acetylation sites in huntingtin.

PubMed ID: 21685499

DOI: 10.1074/mcp.m111.009829

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26198635

Title: Identification of a novel sequence motif recognized by the ankyrin repeat domain of zDHHC17/13 S-acyltransferases.

PubMed ID: 26198635

DOI: 10.1074/jbc.m115.657668

PubMed ID: 28882895

Title: Peptide array based screening reveals a large number of proteins interacting with the ankyrin repeat domain of the zDHHC17 S-acyltransferase.

PubMed ID: 28882895

DOI: 10.1074/jbc.m117.799650

PubMed ID: 28757145

Title: Structural basis for substrate recognition by the ankyrin repeat domain of human DHHC17 palmitoyltransferase.

PubMed ID: 28757145

DOI: 10.1016/j.str.2017.06.018

PubMed ID: 24459296

Title: Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of huntingtin.

PubMed ID: 24459296

DOI: 10.1093/hmg/ddu027

PubMed ID: 29802276

Title: A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease.

PubMed ID: 29802276

DOI: 10.1038/s41598-018-25903-w

PubMed ID: 19748341

Title: Secondary structure of Huntingtin amino-terminal region.

PubMed ID: 19748341

DOI: 10.1016/j.str.2009.08.002

PubMed ID: 21968397

Title: A disulfide-free single-domain V(L) intrabody with blocking activity towards huntingtin reveals a novel mode of epitope recognition.

PubMed ID: 21968397

DOI: 10.1016/j.jmb.2011.09.034

PubMed ID: 23931318

Title: Structure and topology of the huntingtin 1-17 membrane anchor by a combined solution and solid-state NMR approach.

PubMed ID: 23931318

DOI: 10.1016/j.bpj.2013.06.030

PubMed ID: 23370273

Title: Beta conformation of polyglutamine track revealed by a crystal structure of Huntingtin N-terminal region with insertion of three histidine residues.

PubMed ID: 23370273

DOI: 10.4161/pri.23807

PubMed ID: 25861763

Title: Structure of a single-chain Fv bound to the 17 N-terminal residues of huntingtin provides insights into pathogenic amyloid formation and suppression.

PubMed ID: 25861763

DOI: 10.1016/j.jmb.2015.03.021

PubMed ID: 29466333

Title: The cryo-electron microscopy structure of huntingtin.

PubMed ID: 29466333

DOI: 10.1038/nature25502

PubMed ID: 27329733

Title: A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

PubMed ID: 27329733

DOI: 10.1038/ejhg.2016.74

PubMed ID: 26740508

Title: Identification of novel genetic causes of Rett syndrome-like phenotypes.

PubMed ID: 26740508

DOI: 10.1136/jmedgenet-2015-103568

Sequence Information:

  • Length: 3142
  • Mass: 347603
  • Checksum: A267509E84D52F0D
  • Sequence:
  • MATLEKLMKA FESLKSFQQQ QQQQQQQQQQ QQQQQQQQPP PPPPPPPPPQ LPQPPPQAQP 
    LLPQPQPPPP PPPPPPGPAV AEEPLHRPKK ELSATKKDRV NHCLTICENI VAQSVRNSPE 
    FQKLLGIAME LFLLCSDDAE SDVRMVADEC LNKVIKALMD SNLPRLQLEL YKEIKKNGAP 
    RSLRAALWRF AELAHLVRPQ KCRPYLVNLL PCLTRTSKRP EESVQETLAA AVPKIMASFG 
    NFANDNEIKV LLKAFIANLK SSSPTIRRTA AGSAVSICQH SRRTQYFYSW LLNVLLGLLV 
    PVEDEHSTLL ILGVLLTLRY LVPLLQQQVK DTSLKGSFGV TRKEMEVSPS AEQLVQVYEL 
    TLHHTQHQDH NVVTGALELL QQLFRTPPPE LLQTLTAVGG IGQLTAAKEE SGGRSRSGSI 
    VELIAGGGSS CSPVLSRKQK GKVLLGEEEA LEDDSESRSD VSSSALTASV KDEISGELAA 
    SSGVSTPGSA GHDIITEQPR SQHTLQADSV DLASCDLTSS ATDGDEEDIL SHSSSQVSAV 
    PSDPAMDLND GTQASSPISD SSQTTTEGPD SAVTPSDSSE IVLDGTDNQY LGLQIGQPQD 
    EDEEATGILP DEASEAFRNS SMALQQAHLL KNMSHCRQPS DSSVDKFVLR DEATEPGDQE 
    NKPCRIKGDI GQSTDDDSAP LVHCVRLLSA SFLLTGGKNV LVPDRDVRVS VKALALSCVG 
    AAVALHPESF FSKLYKVPLD TTEYPEEQYV SDILNYIDHG DPQVRGATAI LCGTLICSIL 
    SRSRFHVGDW MGTIRTLTGN TFSLADCIPL LRKTLKDESS VTCKLACTAV RNCVMSLCSS 
    SYSELGLQLI IDVLTLRNSS YWLVRTELLE TLAEIDFRLV SFLEAKAENL HRGAHHYTGL 
    LKLQERVLNN VVIHLLGDED PRVRHVAAAS LIRLVPKLFY KCDQGQADPV VAVARDQSSV 
    YLKLLMHETQ PPSHFSVSTI TRIYRGYNLL PSITDVTMEN NLSRVIAAVS HELITSTTRA 
    LTFGCCEALC LLSTAFPVCI WSLGWHCGVP PLSASDESRK SCTVGMATMI LTLLSSAWFP 
    LDLSAHQDAL ILAGNLLAAS APKSLRSSWA SEEEANPAAT KQEEVWPALG DRALVPMVEQ 
    LFSHLLKVIN ICAHVLDDVA PGPAIKAALP SLTNPPSLSP IRRKGKEKEP GEQASVPLSP 
    KKGSEASAAS RQSDTSGPVT TSKSSSLGSF YHLPSYLKLH DVLKATHANY KVTLDLQNST 
    EKFGGFLRSA LDVLSQILEL ATLQDIGKCV EEILGYLKSC FSREPMMATV CVQQLLKTLF 
    GTNLASQFDG LSSNPSKSQG RAQRLGSSSV RPGLYHYCFM APYTHFTQAL ADASLRNMVQ 
    AEQENDTSGW FDVLQKVSTQ LKTNLTSVTK NRADKNAIHN HIRLFEPLVI KALKQYTTTT 
    CVQLQKQVLD LLAQLVQLRV NYCLLDSDQV FIGFVLKQFE YIEVGQFRES EAIIPNIFFF 
    LVLLSYERYH SKQIIGIPKI IQLCDGIMAS GRKAVTHAIP ALQPIVHDLF VLRGTNKADA 
    GKELETQKEV VVSMLLRLIQ YHQVLEMFIL VLQQCHKENE DKWKRLSRQI ADIILPMLAK 
    QQMHIDSHEA LGVLNTLFEI LAPSSLRPVD MLLRSMFVTP NTMASVSTVQ LWISGILAIL 
    RVLISQSTED IVLSRIQELS FSPYLISCTV INRLRDGDST STLEEHSEGK QIKNLPEETF 
    SRFLLQLVGI LLEDIVTKQL KVEMSEQQHT FYCQELGTLL MCLIHIFKSG MFRRITAAAT 
    RLFRSDGCGG SFYTLDSLNL RARSMITTHP ALVLLWCQIL LLVNHTDYRW WAEVQQTPKR 
    HSLSSTKLLS PQMSGEEEDS DLAAKLGMCN REIVRRGALI LFCDYVCQNL HDSEHLTWLI 
    VNHIQDLISL SHEPPVQDFI SAVHRNSAAS GLFIQAIQSR CENLSTPTML KKTLQCLEGI 
    HLSQSGAVLT LYVDRLLCTP FRVLARMVDI LACRRVEMLL AANLQSSMAQ LPMEELNRIQ 
    EYLQSSGLAQ RHQRLYSLLD RFRLSTMQDS LSPSPPVSSH PLDGDGHVSL ETVSPDKDWY 
    VHLVKSQCWT RSDSALLEGA ELVNRIPAED MNAFMMNSEF NLSLLAPCLS LGMSEISGGQ 
    KSALFEAARE VTLARVSGTV QQLPAVHHVF QPELPAEPAA YWSKLNDLFG DAALYQSLPT 
    LARALAQYLV VVSKLPSHLH LPPEKEKDIV KFVVATLEAL SWHLIHEQIP LSLDLQAGLD 
    CCCLALQLPG LWSVVSSTEF VTHACSLIYC VHFILEAVAV QPGEQLLSPE RRTNTPKAIS 
    EEEEEVDPNT QNPKYITAAC EMVAEMVESL QSVLALGHKR NSGVPAFLTP LLRNIIISLA 
    RLPLVNSYTR VPPLVWKLGW SPKPGGDFGT AFPEIPVEFL QEKEVFKEFI YRINTLGWTS 
    RTQFEETWAT LLGVLVTQPL VMEQEESPPE EDTERTQINV LAVQAITSLV LSAMTVPVAG 
    NPAVSCLEQQ PRNKPLKALD TRFGRKLSII RGIVEQEIQA MVSKRENIAT HHLYQAWDPV 
    PSLSPATTGA LISHEKLLLQ INPERELGSM SYKLGQVSIH SVWLGNSITP LREEEWDEEE 
    EEEADAPAPS SPPTSPVNSR KHRAGVDIHS CSQFLLELYS RWILPSSSAR RTPAILISEV 
    VRSLLVVSDL FTERNQFELM YVTLTELRRV HPSEDEILAQ YLVPATCKAA AVLGMDKAVA 
    EPVSRLLEST LRSSHLPSRV GALHGVLYVL ECDLLDDTAK QLIPVISDYL LSNLKGIAHC 
    VNIHSQQHVL VMCATAFYLI ENYPLDVGPE FSASIIQMCG VMLSGSEEST PSIIYHCALR 
    GLERLLLSEQ LSRLDAESLV KLSVDRVNVH SPHRAMAALG LMLTCMYTGK EKVSPGRTSD 
    PNPAAPDSES VIVAMERVSV LFDRIRKGFP CEARVVARIL PQFLDDFFPP QDIMNKVIGE 
    FLSNQQPYPQ FMATVVYKVF QTLHSTGQSS MVRDWVMLSL SNFTQRAPVA MATWSLSCFF 
    VSASTSPWVA AILPHVISRM GKLEQVDVNL FCLVATDFYR HQIEEELDRR AFQSVLEVVA 
    APGSPYHRLL TCLRNVHKVT TC

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.