HTT

HTT
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 3IO6, 3IOU, 3LRH, 4FE8, 4FEB, 4FEC, 4FED, 2LD0, 2LD2, 3IO4, 3IOR, 3IOT, 3IOV, 3IOW, 4RAV
Dynodwyr
Cyfenwau	HTT, HD, IT15, huntingtin, LOMARS
Dynodwyr allanol	OMIM: 613004 HomoloGene: 1593 GeneCards: HTT
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • profilin binding • dynactin binding • transmembrane transporter binding • p53 binding • transcription factor binding • GO:0001948, GO:0016582 protein binding • beta-tubulin binding • identical protein binding • dynein intermediate chain binding • kinase binding • heat shock protein binding Cydrannau o'r gell • late endosome • Golgi apparatus • nucleoplasm • autophagosome • Reticwlwm endoplasmig • centriole • cytoplasmic vesicle membrane • dendrite • cytosol • axon • cnewyllyn cell • cytoplasm • inclusion body • perinuclear region of cytoplasm • GO:0009327 protein-containing complex • presynaptic cytosol • postsynaptic cytosol Prosesau biolegol • animal organ development • retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum • Golgi organization • vesicle transport along microtubule • negative regulation of extrinsic apoptotic signaling pathway • establishment of mitotic spindle orientation • positive regulation of cilium assembly • positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity • GO:0097285 apoptotic process • vocal learning • positive regulation of lipophagy • positive regulation of autophagy of mitochondrion • positive regulation of aggrephagy • regulation of phosphoprotein phosphatase activity • protein destabilization • positive regulation of apoptotic process • regulation of CAMKK-AMPK signaling cascade • regulation of cAMP-dependent protein kinase activity Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	3064	n/a
Ensembl	ENSG00000197386	n/a
UniProt	P42858	n/a
RefSeq (mRNA)	NM_002111 NM_001388492	n/a
RefSeq (protein)	NP_002102	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn HTT yw HTT a elwir hefyd yn Huntingtin (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 4, band 4p16.3.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn HTT.

• HD
• IT15
• LOMARS

Llyfryddiaeth

• "Mutant huntingtin protein expression and blood-spinal cord barrier dysfunction in huntington disease. ". Ann Neurol. 2017. PMID 29171910.
• "A toxic mutant huntingtin species is resistant to selective autophagy. ". Nat Chem Biol. 2017. PMID 28869595.
• "Role of the ribosomal quality control machinery in nucleocytoplasmic translocation of polyQ-expanded huntingtin exon-1. ". Biochem Biophys Res Commun. 2017. PMID 28864412.
• "Formation and Structure of Wild Type Huntingtin Exon-1 Fibrils. ". Biochemistry. 2017. PMID 28621522.
• "Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.". PLoS One. 2017. PMID 28570578.