PAX6

PAX6
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2CUE, 6PAX
Dynodwyr
Cyfenwau	PAX6, AN, AN2, D11S812E, FVH1, MGDA, WAGR, paired box 6, ASGD5
Dynodwyr allanol	OMIM: 607108 HomoloGene: 1212 GeneCards: PAX6
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • GO:0001948, GO:0016582 protein binding • DNA binding • sequence-specific DNA binding • GO:0050372 ubiquitin-protein transferase activity • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific • chromatin binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • transcription factor binding • protein kinase binding • ubiquitin protein ligase binding • histone acetyltransferase binding • co-SMAD binding • R-SMAD binding • HMG box domain binding • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • cytoplasm • cnewyllyn cell • nucleoplasm • cytosol • intracellular anatomical structure Prosesau biolegol • eye development • blood vessel development • animal organ morphogenesis • GO:0009373 regulation of transcription, DNA-templated • glucose homeostasis • transcription, DNA-templated • central nervous system development • response to wounding • cell differentiation • cornea development in camera-type eye • negative regulation of neurogenesis • golwg • iris morphogenesis • multicellular organism development • neuron fate commitment • protein ubiquitination • GO:1901227 negative regulation of transcription by RNA polymerase II • establishment of mitotic spindle orientation • ייעוד התא • neuron migration • GO:0033128 negative regulation of protein phosphorylation • positive regulation of neuroblast proliferation • lens development in camera-type eye • regionalization • type B pancreatic cell differentiation • pancreatic A cell development • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II • transcription by RNA polymerase II • smoothened signaling pathway • axonogenesis • axon guidance • brain development • salivary gland morphogenesis • negative regulation of cell population proliferation • regulation of asymmetric cell division • dorsal/ventral axis specification • anterior/posterior pattern specification • dorsal/ventral pattern formation • regulation of gene expression • GO:1901313 positive regulation of gene expression • pallium development • oligodendrocyte cell fate specification • cerebral cortex regionalization • forebrain dorsal/ventral pattern formation • commitment of neuronal cell to specific neuron type in forebrain • forebrain-midbrain boundary formation • telencephalon regionalization • pituitary gland development • habenula development • signal transduction involved in regulation of gene expression • keratinocyte differentiation • regulation of cell migration • positive regulation of epithelial cell differentiation • forebrain development • lacrimal gland development • protein localization to organelle • eye photoreceptor cell development • camera-type eye development • cell fate commitment • negative regulation of neuron differentiation • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • regulation of timing of cell differentiation • embryonic camera-type eye morphogenesis • astrocyte differentiation • negative regulation of epithelial cell proliferation • regulation of neurogenesis • retina development in camera-type eye • cellular response to leukemia inhibitory factor • negative regulation of neural precursor cell proliferation • positive regulation of core promoter binding Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	5080	n/a
Ensembl	ENSG00000007372	n/a
UniProt	P26367	n/a
RefSeq (mRNA)	NM_000280 NM_001127612 NM_001258462 NM_001258463 NM_001258464 NM_001258465 NM_001310158 NM_001310159 NM_001310160 NM_001310161 NM_001604	n/a
RefSeq (protein)	NP_000271 NP_001121084 NP_001245391 NP_001245392 NP_001245393 NP_001245394 NP_001297087 NP_001297088 NP_001297089 NP_001297090 NP_001595 NP_001355816 NP_001355817 NP_001355818 NP_001355819 NP_001355820 NP_001355821 NP_001355822 NP_001355823 NP_001355828 NP_001355829 NP_001355830 NP_001355831 NP_001355832 NP_001355833 NP_001355834 NP_001355835 NP_001355836 NP_001355837 NP_001355838 NP_001355839 NP_001355840 NP_001355841 NP_001355842 NP_001355843 NP_001355844 NP_001355845 NP_001355846 NP_001355847 NP_001355848 NP_001355849 NP_001355850 NP_001355851 NP_001355852 NP_001355853 NP_001355854 NP_001355855 NP_001355856 NP_001355857 NP_001355858 NP_001355859	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search	[1]	n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn PAX6 yw PAX6 a elwir hefyd yn Paired box protein Pax-6 a Paired box 6 (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 11, band 11p13.[2]

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 PAX6.

• AN
• AN2
• FVH1
• MGDA
• WAGR
• ASGD5
• D11S812E

Llyfryddiaeth

• "Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. ". Can J Ophthalmol. 2017. PMID 29217025.
• "Experimental assessment of novel PAX6 splicing mutations in two Chinese families with aniridia. ". Gene. 2017. PMID 28760551.
• "Newly identified paired box 6 mutation of variant familial aniridia: Congenital iris ectropion with foveal hypoplasia. ". Indian J Ophthalmol. 2017. PMID 28300742.
• "Novel variants in PAX6 gene caused congenital aniridia in two Chinese families. ". Eye (Lond). 2017. PMID 28157223.
• "PAX6 regulates human corneal epithelium cell identity.". Exp Eye Res. 2017. PMID 27818314.

Cyfeiriadau

1. "Human PubMed Reference:".
2. PAX6 - Cronfa NCBI