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]

İşlevi

PAX6, Pax gen ailesine ait bir proteindir ve Pax-6 proteininin kodlanmasını sağlayan genetik bilgiyi taşır. Bu gen, gözler ve diğer duyu organlarının yanı sıra belirli sinir dokuları, epidermal dokular ve genellikle ektodermal kökenli diğer homolog yapılar için bir "ana kontrol" geni olarak işlev görür.^[5] Ancak, göz gelişimi için bir dizi genin daha gerekli olduğu bilinmekte olduğundan, "ana kontrol" nitelemesinin bu bağlamda mutlak anlamıyla doğru olmayabileceği ifade edilmektedir.^[6] Pax-6, sinirsel ektodermin zayıf Sonik Kirpi (SHH) ve güçlü TGF-Beta sinyali kombinasyonlarını aldığında bir transkripsiyon faktörü olarak ifade edilir. İlk olarak ön beyin, arka beyin, baş ektodermi ve omurilikte görülür; daha sonraki süreçte ise orta beyinde ifade edilmeye başlar. Bu transkripsiyon faktörü, farklı türler arasında dışsal göz yapılarının oluşumunu teşvik etmesiyle dikkat çeker ve tıbbi açıdan önemlidir. Zira, heterozigot mutasyonlar, insanlarda iris yokluğu (aniridia) gibi geniş bir yelpazede göz kusurlarına yol açar.^[7]

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.
^ Thakurela, Sudhir; Tiwari, Neha; Schick, Sandra; Garding, Angela; Ivanek, Robert; Berninger, Benedikt; Tiwari, Vijay K. (9 Şubat 2016). "Mapping gene regulatory circuitry of Pax6 during neurogenesis". Cell Discovery (İngilizce). 2 (1): 1-22. doi:10.1038/celldisc.2015.45. ISSN 2056-5968.
^ Fernald RD (2004). "Eyes: variety, development and evolution". Brain, Behavior and Evolution. 64 (3): 141-7. doi:10.1159/000079743. PMID 15353906.
^ Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH (May 2008). "Pax6 3' deletion results in aniridia, autism and mental retardation". Human Genetics. 123 (4): 371-8. doi:10.1007/s00439-008-0484-x. PMC 2719768 $2. PMID 18322702.

[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.

[5] Thakurela, Sudhir; Tiwari, Neha; Schick, Sandra; Garding, Angela; Ivanek, Robert; Berninger, Benedikt; Tiwari, Vijay K. (9 Şubat 2016). "Mapping gene regulatory circuitry of Pax6 during neurogenesis". Cell Discovery (İngilizce). 2 (1): 1-22. doi:10.1038/celldisc.2015.45. ISSN 2056-5968.

[pmid15353906-6] Fernald RD (2004). "Eyes: variety, development and evolution". Brain, Behavior and Evolution. 64 (3): 141-7. doi:10.1159/000079743. PMID 15353906.

[:0-7] Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH (May 2008). "Pax6 3' deletion results in aniridia, autism and mental retardation". Human Genetics. 123 (4): 371-8. doi:10.1007/s00439-008-0484-x. PMC 2719768 $2. PMID 18322702.

[1]

[2]

[3]

[4]

[5]

[6]

[7]