Welcome to
RBP World!
Description
| Ensembl ID | ENSG00000197386 | Gene ID | 3064 | Accession | 4851 |
| Symbol | HTT | Alias | HD;IT15;LOMARS | Full Name | huntingtin |
| Status | Confidence | Length | 202595 bases | Strand | Plus strand |
| Position | 4 : 3041363 - 3243957 | RNA binding domain | N.A. | ||
| Summary | Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016] | ||||
RNA binding domains (RBDs)
| Protein | Domain | Pfam ID | E-value | Domain number |
|---|
RNA binding proteomes (RBPomes)
| Pubmed ID | Full Name | Cell | Author | Time | Doi |
|---|
Literatures on RNA binding capacity
| Pubmed ID | Title | Author | Time | Journal |
|---|---|---|---|---|
| 36589236 | Intracellular and intercellular transport of RNA organelles in CXG repeat disorders: The strength of weak ties. | Kailash Deepti Nabariya | 2022-01-01 | Frontiers in molecular biosciences |
| 29865084 | A Fresh Look at Huntingtin mRNA Processing in Huntington's Disease. | Lindsay Romo | 2018-01-01 | Journal of Huntington's disease |
| 27486686 | Quantitative Proteomic Analysis Reveals Similarities between Huntington's Disease (HD) and Huntington's Disease-Like 2 (HDL2) Human Brains. | Tamara Ratovitski | 2016-09-02 | Journal of proteome research |
| 30711541 | Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease. | Judith Schilling | 2019-04-19 | Journal of molecular biology |
| 28954224 | Alterations in mRNA 3' UTR Isoform Abundance Accompany Gene Expression Changes in Human Huntington's Disease Brains. | Lindsay Romo | 2017-09-26 | Cell reports |
| 29218782 | Therapy development in Huntington disease: From current strategies to emerging opportunities. | S Audrey Dickey | 2018-04-01 | American journal of medical genetics. Part A |
| 33998547 | Taming the Huntington's Disease Proteome: What Have We Learned? | Connor Seeley | 2021-01-01 | Journal of Huntington's disease |
| 37535888 | Arginine methylation of RNA-binding proteins is impaired in Huntington's disease. | Tamara Ratovitski | 2023-08-03 | Human molecular genetics |
| 32245050 | Huntingtin Lowering Strategies. | Franz Marxreiter | 2020-03-20 | International journal of molecular sciences |
| 23907466 | Mechanisms of RNA-induced toxicity in CAG repeat disorders. | R Nalavade | 2013-08-01 | Cell death & disease |
| 26317359 | Proteins with Intrinsically Disordered Domains Are Preferentially Recruited to Polyglutamine Aggregates. | P Maggie Wear | 2015-01-01 | PloS one |
| 27625393 | Identifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases. | Magdalena Jazurek | 2016-11-02 | Nucleic acids research |
| 37481821 | Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's disease. | Vincent Tano | 2023-08-01 | EBioMedicine |
| 21028906 | Allele-selective inhibition of mutant huntingtin expression with antisense oligonucleotides targeting the expanded CAG repeat. | T Keith Gagnon | 2010-11-30 | Biochemistry |
| 33526943 | Gene-based therapies for neurodegenerative diseases. | Jichao Sun | 2021-03-01 | Nature neuroscience |
| 34911927 | Small molecule splicing modifiers with systemic HTT-lowering activity. | Anuradha Bhattacharyya | 2021-12-15 | Nature communications |
| 28400719 | Reduction of Huntington's Disease RNA Foci by CAG Repeat-Targeting Reagents. | O Martyna Urbanek | 2017-01-01 | Frontiers in cellular neuroscience |
| 24981774 | Allele-selective inhibition of mutant atrophin-1 expression by duplex and single-stranded RNAs. | Jiaxin Hu | 2014-07-22 | Biochemistry |
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID |
|---|---|---|---|---|
| HTT-219 | ENST00000680239 | 13834 | 2880aa | ENSP00000506169 |
| HTT-222 | ENST00000680956 | 13943 | 3056aa | ENSP00000506029 |
| HTT-221 | ENST00000680360 | 13984 | 2191aa | ENSP00000505014 |
| HTT-223 | ENST00000681528 | 14033 | 3086aa | ENSP00000506116 |
| HTT-213 | ENST00000647962 | 1324 | No protein | - |
| HTT-216 | ENST00000649900 | 587 | No protein | - |
| HTT-220 | ENST00000680291 | 7184 | No protein | - |
| HTT-201 | ENST00000355072 | 13472 | 3142aa | ENSP00000347184 |
| HTT-214 | ENST00000648150 | 331 | No protein | - |
| HTT-202 | ENST00000506137 | 781 | No protein | - |
| HTT-209 | ENST00000512909 | 611 | No protein | - |
| HTT-207 | ENST00000510626 | 14438 | No protein | - |
| HTT-215 | ENST00000649131 | 289 | 97aa | ENSP00000497424 |
| HTT-205 | ENST00000509618 | 429 | 112aa | ENSP00000425743 |
| HTT-217 | ENST00000650588 | 503 | 75aa | ENSP00000497844 |
| HTT-218 | ENST00000650595 | 390 | 75aa | ENSP00000497994 |
| HTT-211 | ENST00000513639 | 259 | No protein | - |
| HTT-210 | ENST00000513326 | 373 | No protein | - |
| HTT-204 | ENST00000509043 | 380 | No protein | - |
| HTT-206 | ENST00000509751 | 723 | No protein | - |
| HTT-208 | ENST00000512068 | 401 | No protein | - |
| HTT-212 | ENST00000513806 | 432 | No protein | - |
| HTT-203 | ENST00000508321 | 386 | No protein | - |
GWAS
| ensgID | SNP | Chromosome | Position | Trait | PubmedID | Or or BEAT | EFO ID |
|---|
Protein-Protein Interaction (PPI)
Paralogs
| Ensembl ID | Source | Target | ||||||
|---|---|---|---|---|---|---|---|---|
| Species | Protein ID | Perc_pos | Perc_id | Species | Protein ID | Perc_pos | Perc_id | |
Orthologs
| Ensembl ID | Source | Target | ||||||
|---|---|---|---|---|---|---|---|---|
| Species | Protein ID | Perc_pos | Perc_id | Species | Protein ID | Perc_pos | Perc_id | |
Gene Ontology
| Go ID | Go term | No. evidence | Entries | Species | Category |
|---|---|---|---|---|---|
| GO:0000132 | involved_in establishment of mitotic spindle orientation | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0002039 | enables p53 binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0005515 | enables protein binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0005522 | enables profilin binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0005634 | located_in nucleus | 2 | IDA,IMP | Homo_sapiens(9606) | Component |
| GO:0005654 | located_in nucleoplasm | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005737 | is_active_in cytoplasm | 3 | IBA,IDA,IMP | Homo_sapiens(9606) | Component |
| GO:0005769 | located_in early endosome | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005770 | located_in late endosome | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005776 | located_in autophagosome | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005783 | located_in endoplasmic reticulum | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005794 | located_in Golgi apparatus | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005814 | located_in centriole | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0005829 | located_in cytosol | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0006890 | involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0006915 | involved_in apoptotic process | 1 | IEA | Homo_sapiens(9606) | Process |
| GO:0007030 | involved_in Golgi organization | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0016234 | located_in inclusion body | 1 | IMP | Homo_sapiens(9606) | Component |
| GO:0019900 | enables kinase binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0030424 | located_in axon | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0030425 | located_in dendrite | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0030659 | located_in cytoplasmic vesicle membrane | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0031072 | enables heat shock protein binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0031587 | involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | 1 | IDA | Homo_sapiens(9606) | Process |
| GO:0031648 | involved_in protein destabilization | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0032991 | part_of protein-containing complex | 2 | IDA,IMP | Homo_sapiens(9606) | Component |
| GO:0034452 | enables dynactin binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0042297 | involved_in vocal learning | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0042802 | enables identical protein binding | 1 | IPI | Homo_sapiens(9606) | Function |
| GO:0043065 | involved_in positive regulation of apoptotic process | 1 | IDA | Homo_sapiens(9606) | Process |
| GO:0043666 | acts_upstream_of_or_within regulation of phosphoprotein phosphatase activity | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0044325 | enables transmembrane transporter binding | 1 | IDA | Homo_sapiens(9606) | Function |
| GO:0045505 | enables dynein intermediate chain binding | 1 | IDA | Homo_sapiens(9606) | Function |
| GO:0045724 | involved_in positive regulation of cilium assembly | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0047496 | involved_in vesicle transport along microtubule | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:0048471 | located_in perinuclear region of cytoplasm | 2 | IMP,ISS | Homo_sapiens(9606) | Component |
| GO:0048487 | enables beta-tubulin binding | 1 | IDA | Homo_sapiens(9606) | Function |
| GO:0099111 | involved_in microtubule-based transport | 1 | IBA | Homo_sapiens(9606) | Process |
| GO:0099523 | is_active_in presynaptic cytosol | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:0099524 | is_active_in postsynaptic cytosol | 1 | IDA | Homo_sapiens(9606) | Component |
| GO:1903599 | involved_in positive regulation of autophagy of mitochondrion | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:1904504 | involved_in positive regulation of lipophagy | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:1905289 | involved_in regulation of CAMKK-AMPK signaling cascade | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:1905337 | involved_in positive regulation of aggrephagy | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:2000479 | involved_in regulation of cAMP-dependent protein kinase activity | 1 | IMP | Homo_sapiens(9606) | Process |
| GO:2001237 | involved_in negative regulation of extrinsic apoptotic signaling pathway | 1 | IMP | Homo_sapiens(9606) | Process |