THAP1

THAP1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2JTG, 2KO0, 2L1G
Dynodwyr
Cyfenwau	THAP1, DYT6, THAP domain containing, apoptosis associated protein 1, THAP domain containing 1
Dynodwyr allanol	OMIM: 609520 HomoloGene: 10005 GeneCards: THAP1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • metal ion binding • sequence-specific DNA binding • DNA binding • zinc ion binding • GO:0001948, GO:0016582 protein binding • identical protein binding • nucleic acid binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • protein homodimerization activity • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • PML body • intracellular membrane-bounded organelle • cnewyllyn cell • nucleoplasm • fibrillar center Prosesau biolegol • cell cycle • endothelial cell proliferation • regulation of mitotic cell cycle • transcription, DNA-templated • GO:0009373 regulation of transcription, DNA-templated • GO:1901227 negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	55145	n/a
Ensembl	ENSG00000131931	n/a
UniProt	Q9NVV9	n/a
RefSeq (mRNA)	NM_199003 NM_018105	n/a
RefSeq (protein)	NP_060575 NP_945354	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 THAP1 yw THAP1 a elwir hefyd yn THAP domain containing 1 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 8, band 8p11.21.

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 THAP1.

• DYT6

Llyfryddiaeth

• "Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions. ". PLoS One. 2015. PMID 26087139.
• "High variability of clinical symptoms in a Polish family with a novel THAP1 mutation. ". Int J Neurosci. 2015. PMID 25385508.
• "In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein. ". J Mol Neurosci. 2017. PMID 28299530.
• "Genetic screening of THAP1 in primary dystonia patients of India. ". Neurosci Lett. 2017. PMID 27913194.
• "New THAP1 mutation and role of putative modifier in TOR1A.". Acta Neurol Scand. 2017. PMID 26940431.