ATXN1

ATXN1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1OA8, 4APT, 4AQP, 4J2J, 4J2L, 2M41
Dynodwyr
Cyfenwau	ATXN1, ATX1, D6S504E, SCA1, ataxin 1
Dynodwyr allanol	OMIM: 601556 HomoloGene: 281 GeneCards: ATXN1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • poly(G) binding • protein self-association • DNA binding • RNA binding • protein C-terminus binding • GO:0001948, GO:0016582 protein binding • identical protein binding • poly(U) RNA binding Cydrannau o'r gell • cytoplasm • nuclear matrix • nuclear inclusion body • nuclear RNA export factor complex • cnewyllyn cell • nucleoplasm • nucleolus • cytosol Prosesau biolegol • nuclear export • GO:0033168, GO:0036404, GO:1902360 RNA processing • GO:0045996 negative regulation of transcription, DNA-templated • GO:0009373 regulation of transcription, DNA-templated • transcription, DNA-templated • brain development • learning • Cof • social behavior • GO:1901227 negative regulation of transcription by RNA polymerase II • lung alveolus development • nervous system development • GO:1903374 anatomical structure development Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	6310	n/a
Ensembl	ENSG00000124788	n/a
UniProt	P54253	n/a
RefSeq (mRNA)	NM_001128164 NM_000332 NM_001357857	n/a
RefSeq (protein)	NP_000323 NP_001121636 NP_001344786	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 ATXN1 yw ATXN1 a elwir hefyd yn Ataxin 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 6, band 6p22.3.

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 ATXN1.

• ATX1
• SCA1
• D6S504E

Llyfryddiaeth

• "Ataxin-1 regulates epithelial-mesenchymal transition of cervical cancer cells. ". Oncotarget. 2017. PMID 28212558.
• "RNAi prevents and reverses phenotypes induced by mutant human ataxin-1. ". Ann Neurol. 2016. PMID 27686464.
• "[Spinocerebellar ataxia: eight cases from one pedigree]. ". Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID 27577232.
• "High relative frequency of SCA1 in Poland reflecting a potential founder effect. ". Neurol Sci. 2016. PMID 27193757.
• "Characterization of the AXH domain of Ataxin-1 using enhanced sampling and functional mode analysis.". Proteins. 2016. PMID 26879337.