PAX6

PAX6
Uygun yapılar
PDB	Ortolog araması: PDBe RCSB
PDB kimlik kodlarının listesi
	2CUE, 6PAX
Tanımlayıcılar
Başka adlar	PAX6
Dış kimlikler	OMIM: 607108 MGI: 97490 HomoloGene: 1212 GeneCards: PAX6
Gen yerleşimi (İnsan)
Krom.	11. Kromozom (insan)
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
Ortologlar
	5080
	18508
	ENSG00000007372
	ENSMUSG00000027168
	P26367
	P63015
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
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
	Vikiveri
İnsan'ı Gör/Düzenle	Fare'yi Gör/Düzenle

Aniridia tip II proteini (AN2) veya oculorhombin olarak da bilinen, insanların 11. kromozomunda yer alan PAX6 geni tarafından kodlanan bir proteindir.^[4]

Kaynakça

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000007372 - Ensembl, May 2017
^ "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000007372 - Ensembl, May 2017

[2] "İnsan PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Fare PubMed Başvurusu:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid13020302-4] 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.

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