PAX6

PAX6
Dostupne strukture PDB Pretraga ortologa: PDBe RCSB Spisak PDB ID kodova 2CUE, 6PAX
Identifikatori
Aliasi	PAX6
Vanjski ID-jevi	OMIM: 607108 MGI: 97490 HomoloGene: 1212 GeneCards: PAX6
Lokacija gena (čovjek) Hrom. Hromosom 11 (čovjek)[1] Bend 11p13 Početak 31,784,779 bp[1] Kraj 31,818,062 bp[1]
Lokacija gena (miš) Hrom. Hromosom 2 (miš)[2] Bend 2 E3|2 55.31 cM Početak 105,499,245 bp[2] Kraj 105,527,709 bp[2]
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ontologija gena Molekularna funkcija • GO:0001948, GO:0016582 vezivanje za proteine • vezivanje sa DNK • sequence-specific DNA binding • GO:0050372 aktivnost sa transferazom ubikvitina • 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 Ćelijska komponenta • citoplazma • jedro • nukleoplazma • citosol • intracellular anatomical structure Biološki proces • 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 • Ćelijska diferencijacija • cornea development in camera-type eye • negative regulation of neurogenesis • Vid • 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 • Ježev signalni put • 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 • Regulacija ekspresije gena • 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 Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	5080	18508
Ensembl	ENSG00000007372	ENSMUSG00000027168
UniProt	P26367	P63015
RefSeq (mRNK)	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 (bjelančevina)	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
Lokacija (UCSC)	Chr 11: 31.78 – 31.82 Mb	Chr 2: 105.5 – 105.53 Mb
PubMed pretraga	[3]	[4]
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Upareni kutijski protein Pax-6, znan i kao aniridijski protein tip II (AN2) ili okulorombin, je protein koji je kod ljudi kodiran genom PAX6.^[5]

1. ^ ^{a b c} GRCh38: Ensembl release 89: ENSG00000007372 - Ensembl, maj 2017
2. ^ ^{a b c} GRCm38: Ensembl release 89: ENSMUSG00000027168 - Ensembl, maj 2017
3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ 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): 328–32. doi:10.1038/ng0892-328. PMID 1302030. S2CID 13736351.