Details for: HTT

Gene ID: 3064

Symbol: HTT

Ensembl ID: ENSG00000197386

Description: huntingtin

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.45
    Marker Score: 5384.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.18
    Marker Score: 43407
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.13
    Marker Score: 2577
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.11
    Marker Score: 80096
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.1
    Marker Score: 31341
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.07
    Marker Score: 15837
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.06
    Marker Score: 76152
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.05
    Marker Score: 43767
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.03
    Marker Score: 2726
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2
    Marker Score: 8294
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.99
    Marker Score: 1163
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.98
    Marker Score: 7642
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.98
    Marker Score: 1151
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.93
    Marker Score: 8086.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.93
    Marker Score: 118821
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.92
    Marker Score: 18050
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.88
    Marker Score: 2074
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.86
    Marker Score: 8597
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.85
    Marker Score: 7538
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.83
    Marker Score: 17372
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.81
    Marker Score: 18648
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.78
    Marker Score: 747
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.78
    Marker Score: 15266
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.67
    Marker Score: 4759
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.62
    Marker Score: 2723
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.58
    Marker Score: 1813
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.56
    Marker Score: 2405
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.5
    Marker Score: 2887
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.5
    Marker Score: 1866
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.49
    Marker Score: 436
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.4
    Marker Score: 382
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.38
    Marker Score: 444
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.37
    Marker Score: 433
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.37
    Marker Score: 3226
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.36
    Marker Score: 426
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.35
    Marker Score: 1532
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.34
    Marker Score: 1155
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.34
    Marker Score: 943
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.33
    Marker Score: 2329
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.3
    Marker Score: 1004
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.3
    Marker Score: 728
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.26
    Marker Score: 700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.25
    Marker Score: 42238
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.24
    Marker Score: 19865
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.2
    Marker Score: 717
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.2
    Marker Score: 1293
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.19
    Marker Score: 2510
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.19
    Marker Score: 626
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.18
    Marker Score: 18533
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.17
    Marker Score: 682
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.16
    Marker Score: 1005
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.11
    Marker Score: 744
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 1.11
    Marker Score: 553
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.11
    Marker Score: 537
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.1
    Marker Score: 663
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.1
    Marker Score: 349
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.09
    Marker Score: 420.5
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.08
    Marker Score: 1034
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.08
    Marker Score: 1307
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.08
    Marker Score: 605
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.08
    Marker Score: 1153
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.07
    Marker Score: 2176
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.06
    Marker Score: 523
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.05
    Marker Score: 2518
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.05
    Marker Score: 1293
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.01
    Marker Score: 1430
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.01
    Marker Score: 406
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1
    Marker Score: 5382
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1
    Marker Score: 479
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71669
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47894
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.99
    Marker Score: 3535
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.99
    Marker Score: 284
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.98
    Marker Score: 6320
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30386
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.98
    Marker Score: 21824
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.96
    Marker Score: 5017
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.95
    Marker Score: 352
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.95
    Marker Score: 660
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.94
    Marker Score: 16754
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2394
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.94
    Marker Score: 3220
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.94
    Marker Score: 340
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.93
    Marker Score: 983
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.93
    Marker Score: 315
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.92
    Marker Score: 344
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.92
    Marker Score: 395
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.92
    Marker Score: 233
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.91
    Marker Score: 913.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.91
    Marker Score: 5473
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.91
    Marker Score: 288
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.91
    Marker Score: 1471
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.9
    Marker Score: 366
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.9
    Marker Score: 340
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2699
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.9
    Marker Score: 236.5
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.89
    Marker Score: 3827
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.87
    Marker Score: 316

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Other Information

**Key characteristics:** - Huntingtin is a transmembrane protein with a molecular weight of approximately 500 kDa. - It is a cytoskeletal protein that is highly expressed in neurons and glia. - Huntingtin is a key regulator of the cell cycle, and its expression is tightly controlled. - It is involved in the regulation of apoptosis, cell migration, and synaptic plasticity. **Pathways and functions:** - Huntingtin is involved in the apoptotic process, where it acts as a pro-apoptotic protein. - It binds to beta-tubulin and dynactin, which are cytoskeletal proteins that are involved in cell division. - Huntingtin also binds to dynein, an intermediate chain in the cell cycle, and to the Dynein motor protein, which is responsible for the transport of organelles and proteins along the cell's microtubules. - Huntingtin is also involved in the establishment of the mitotic spindle orientation. - It is involved in the transcription of genes involved in cell cycle regulation, including the expression of p53 and MECP2. - Huntingtin is also involved in the regulation of the Golgi apparatus and the endoplasmic reticulum. **Clinical significance:** - Mutations in the HTT gene have been linked to several neurodegenerative diseases, including Huntington's disease, a fatal neurodegenerative disorder characterized by progressive cognitive decline and motor symptoms. - The huntingtin gene is also involved in the development of schizophrenia and autism. - Huntingtin inhibitors are being investigated as potential treatments for neurodegenerative diseases that are caused by mutations in the HTT gene.

Genular Protein ID: 3633238995

Symbol: HD_HUMAN

Name: Huntingtin

UniProtKB Accession Codes:

P42858 Q9UQB7

Database IDs:

ABCD 1 AGR 1 Antibodypedia 1 BMRB 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 ELM 1 EMBL 15 EMDB 5 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 45 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 MoonDB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 43 PDBsum 23 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SAM 1 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.