POT1

POT1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1XJV, 3KJO, 3KJP
Dynodwyr
Cyfenwau	POT1, CMM10, HGLM9, protection of telomeres 1
Dynodwyr allanol	OMIM: 606478 HomoloGene: 32263 GeneCards: POT1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • telomeric DNA binding • single-stranded telomeric DNA binding • DEAD/H-box RNA helicase binding • GO:0001948, GO:0016582 protein binding • G-rich strand telomeric DNA binding • telomerase inhibitor activity • G-rich single-stranded DNA binding • telomeric D-loop binding • telomeric G-quadruplex DNA binding • 8-hydroxy-2'-deoxyguanosine DNA binding Cydrannau o'r gell • nuclear telomere cap complex • nucleoplasm • Cromosom • telomere • cnewyllyn cell • shelterin complex Prosesau biolegol • negative regulation of telomerase activity • DNA duplex unwinding • positive regulation of helicase activity • positive regulation of telomerase activity • establishment of protein localization to telomere • telomere assembly • positive regulation of DNA strand elongation • telomere maintenance • telomere capping • regulation of DNA helicase activity • positive regulation of DNA helicase activity • telomeric D-loop disassembly • telomere maintenance via telomerase • regulation of telomere maintenance via telomerase • negative regulation of telomere maintenance via telomerase • positive regulation of telomere maintenance via telomerase Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	25913	n/a
Ensembl	ENSG00000128513	n/a
UniProt	Q9NUX5	n/a
RefSeq (mRNA)	NM_001042594 NM_015450	n/a
RefSeq (protein)	NP_001036059 NP_056265 NP_001036059.1	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 POT1 yw POT1 a elwir hefyd yn Protection of telomeres protein 1 a POT1 protection of telomeres 1 homolog (S. pombe), isoform CRA_a (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 7, band 7q31.33.

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 POT1.

• GLM9
• CMM10
• HPOT1

Llyfryddiaeth

• "Downregulation of Protection of Telomeres 1 expression in myelodysplastic syndromes with 7q deletion. ". Br J Haematol. 2016. PMID 26105212.
• "The OB-fold domain 1 of human POT1 recognizes both telomeric and non-telomeric DNA motifs. ". Biochimie. 2015. PMID 25934589.
• "Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. ". Blood. 2016. PMID 27528712.
• "A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus. ". Genes Dev. 2016. PMID 27013236.
• "A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.". Nat Commun. 2015. PMID 26403419.