PAX6

Aniridia tip II proteini (AN2) veya oculorhombin olarak da bilinen, insanların 11. kromozomunda yer alan PAX6 geni tarafından kodlanan bir proteindir.

PAX6
Uygun yapılar PDB Ortolog araması: PDBe RCSB PDB kimlik kodlarının listesi 2CUE, 6PAX
Tanımlayıcılar
	PAX6
Dış kimlikler	OMIM: 607108 97490 1212 PAX6
Gen yerleşimi (İnsan) Krom. 11. Kromozom (insan) Bant 11p13 Başlangıç 31,784,779 bç Bitiş 31,818,062 bç
RNA ekspresyonu deseni Daha çok ekspresyon verisi başvurusu
Gen ontolojisi Moleküler işlevi • GO:0001948, GO:0016582 protein bağlanması • 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 Hücresel bileşeni • sitoplazma • hücre çekirdeği • Nükleoplazma • Sitozol • intracellular anatomical structure Biyolojik süreci • 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 • görsel algı • 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 • cell fate determination • 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 • Gen ifadesinin düzenlenmesi • 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 Kaynaklar:Amigo / QuickGO
Türler	İnsan	Fare
	5080	18508
	ENSG00000007372	ENSMUSG00000027168
	P26367	P63015
RefSeq (mRNA)	NM_000280 NM_001127612 NM_001258462 NM_001258463 NM_001258464 NM_001258465 NM_001310158 NM_001310159 NM_001310160 NM_001310161 NM_001604	NM_001244198 NM_001244200 NM_001244201 NM_001244202 NM_013627 NM_001310144 NM_001310145 NM_001310146
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	NP_001231127 NP_001231129 NP_001231130 NP_001231131 NP_001297073 NP_001297074 NP_001297075 NP_038655
Yerleşim (UCSC)	Krom. 11: 31.78 – 31.82 Mb	n/a
PubMed araması
Vikiveri
İnsan'ı Gör/Düzenle Fare'yi Gör/Düzenle

Kaynakça

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000007372 - , May 2017
2. ^ "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine. Arşivlenmesi gereken bağlantıya sahip kaynak şablonu içeren maddeler ()
3. ^ "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine. Arşivlenmesi gereken bağlantıya sahip kaynak şablonu içeren maddeler ()
4. ^ Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, Hastie N, van Heyningen V (August 1992). "The human PAX6 gene is mutated in two patients with aniridia". Nature Genetics. 1 (5). ss. 328-32. doi:10.1038/ng0892-328. (PMID) 1302030.