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HUMAN:HD
Contents |
| Species (Taxon ID) | Homo sapiens (Human). (taxon:9606) | |
| Gene Name(s) | HTT ( synonyms: HD, IT15 ) | |
| Protein Name(s) |
| |
| External Links | ||
| UniProt Identifier | HD_HUMAN | |
| UniProt Accessions | P42858, Q9UQB7, | |
| EMBL | L12392, AB016794, Z49154, Z49155, Z49208, Z49769, Z68756, Z69649, L27350, L27351, L27352, L27353, L27354, L34020, L20431, | |
| PIR | A46068, | |
| RefSeq | NP_002102.4, | |
| PDB | 2D3X, 3IO4, 3IO6, 3IOR, 3IOT, 3IOU, 3IOV, 3IOW, 3LRH, | |
| IntAct | P42858, | |
| Ensembl | ENST00000355072, | |
| Pfam | PF02985, | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005794 |
Golgi apparatus |
IDA: Inferred from Direct Assay |
C |
Source: UniProtKB |
||||
| GO:0034399 |
nuclear periphery |
IDA: Inferred from Direct Assay |
C |
Source: UniProtKB |
||||
| GO:0005625 |
soluble fraction |
TAS: Traceable Author Statement |
C |
Source: ProtInc |
||||
| GO:0008017 |
microtubule binding |
TAS: Traceable Author Statement |
F |
Source: ProtInc |
||||
| GO:0003714 |
transcription corepressor activity |
TAS: Traceable Author Statement |
F |
Source: ProtInc |
||||
| GO:0005215 |
transporter activity |
TAS: Traceable Author Statement |
F |
Source: ProtInc |
||||
| GO:0006917 |
induction of apoptosis |
TAS: Traceable Author Statement |
P |
Source: ProtInc |
||||
| GO:0000132 |
establishment of mitotic spindle orientation |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0002039 |
p53 binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005488 |
binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005488 |
binding |
IEA: Inferred from Electronic Annotation |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0005624 |
membrane fraction |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005634 |
nucleus |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0191 |
C |
||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005634 |
nucleus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
C |
|||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0086 |
C |
||||
| GO:0005737 |
cytoplasm |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005737 |
cytoplasm |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005737 |
cytoplasm |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005770 |
late endosome |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005776 |
autophagic vacuole |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005783 |
endoplasmic reticulum |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005794 |
Golgi apparatus |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0005829 |
cytosol |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0006890 |
retrograde vesicle-mediated transport, Golgi to ER |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0006915 |
apoptosis |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0007030 |
Golgi organization |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0008134 |
transcription factor binding |
PANTHER:PTHR10170_AN3 |
F |
|||||
| GO:0008219 |
cell death |
IEA: Inferred from Electronic Annotation |
P |
|||||
| GO:0030424 |
axon |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0030425 |
dendrite |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0030659 |
cytoplasmic vesicle membrane |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0034452 |
dynactin binding |
IPI: Inferred from Physical Interaction |
F |
|||||
| GO:0043234 |
protein complex |
IDA: Inferred from Direct Assay |
C |
|||||
| GO:0045505 |
dynein intermediate chain binding |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0047496 |
vesicle transport along microtubule |
IMP: Inferred from Mutant Phenotype |
P |
|||||
| GO:0048487 |
beta-tubulin binding |
IDA: Inferred from Direct Assay |
F |
|||||
| GO:0048513 |
organ development |
PANTHER:PTHR10170_AN4 |
P |
|||||
|
NOT |
GO:0005730 |
nucleolus |
IDA: Inferred from Direct Assay |
C |
| |||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ Godin JD et al. (2010) Huntingtin is required for mitotic spindle orientation and mammalian neurogenesis. Neuron 67: 392-406 PubMed GONUTS page
- ↑ 2.0 2.1 2.2 2.3 Steffan JS et al. (2000) The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci U S A 97: 6763-8 PubMed GONUTS page
- ↑ 3.00 3.01 3.02 3.03 3.04 3.05 3.06 3.07 3.08 3.09 3.10 Goehler H et al. (2004) A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease. Mol Cell 15: 853-65 PubMed GONUTS page
- ↑ Huang K et al. (2004) Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins. Neuron 44: 977-86 PubMed GONUTS page
- ↑ 5.0 5.1 Filimonenko M et al. (2010) The selective macroautophagic degradation of aggregated proteins requires the PI3P-binding protein Alfy. Mol Cell 38: 265-79 PubMed GONUTS page
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 Pardo R et al. (2010) pARIS-htt: an optimised expression platform to study huntingtin reveals functional domains required for vesicular trafficking. Mol Brain 3: 17 PubMed GONUTS page
- ↑ Li XJ et al. (1995) A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378: 398-402 PubMed GONUTS page
- ↑ 8.0 8.1 8.2 8.3 8.4 DiFiglia M et al. (1995) Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron 14: 1075-81 PubMed GONUTS page
- ↑ Xia J et al. (2003) Huntingtin contains a highly conserved nuclear export signal. Hum Mol Genet 12: 1393-403 PubMed GONUTS page
- ↑ 10.0 10.1 10.2 10.3 Atwal RS et al. (2007) Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity. Hum Mol Genet 16: 2600-15 PubMed GONUTS page
- ↑ 11.0 11.1 11.2 Barbe L et al. (2008) Toward a confocal subcellular atlas of the human proteome. Mol Cell Proteomics 7: 499-508 PubMed GONUTS page
- ↑ Steffan JS et al. (2004) SUMO modification of Huntingtin and Huntington's disease pathology. Science 304: 100-4 PubMed GONUTS page
- ↑ Sahlender DA et al. (2005) Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J Cell Biol 169: 285-95 PubMed GONUTS page
- ↑ 14.0 14.1 Shimojo M (2008) Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued. J Biol Chem 283: 34880-6 PubMed GONUTS page
- ↑ Hoffner G et al. (2002) Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease. J Cell Sci 115: 941-8 PubMed GONUTS page