GLI3

GLI3
ساختارهای موجود
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4BLD
معین‌کننده‌ها
نام‌های دیگر	GLI3, ACLS, GCPS, GLI3-190, GLI3FL, PAP-A, PAPA, PAPA1, PAPB, PHS, PPDIV, GLI family zinc finger 3
شناسه‌های بیرونی	OMIM: 165240 MGI: 95729 HomoloGene: 139 GeneCards: GLI3
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)[1]
End	15,730,026 bp[1]
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• GO:0001131، GO:0001151، GO:0001130، GO:0001204 DNA-binding transcription factor activity; • GO:0001077، GO:0001212، GO:0001213، GO:0001211، GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • histone deacetylase binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • metal ion binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • beta-catenin binding; • chromatin binding; • GO:0001948 پیوند پروتئینی; • histone acetyltransferase binding; • nucleic acid binding; • DNA binding; • sequence-specific DNA binding; • GO:0001200، GO:0001133، GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • mediator complex binding;
ترکیبات سلولی	• سیتوپلاسم; • سیتوزول; • transcription repressor complex; • هسته یاخته; • nuclear speck; • cell projection; • mediator complex; • مژک; • GO:0035085 ساقه مژکی; • نوکلئوپلاسم; • ciliary base; • ciliary tip;
فرایند زیستی	• embryonic skeletal system morphogenesis; • pattern specification process; • lateral semicircular canal development; • negative regulation of neuron differentiation; • T cell differentiation in thymus; • tongue development; • nose morphogenesis; • optic nerve morphogenesis; • smoothened signaling pathway involved in ventral spinal cord interneuron specification; • anatomical structure formation involved in morphogenesis; • oligodendrocyte differentiation; • hindgut morphogenesis; • spinal cord dorsal/ventral patterning; • thymocyte apoptotic process; • mammary gland development; • limb development; • odontogenesis of dentin-containing tooth; • positive regulation of chondrocyte differentiation; • embryonic digestive tract morphogenesis; • inner ear development; • metanephros development; • melanocyte differentiation; • negative regulation of canonical Wnt signaling pathway; • negative regulation of cell population proliferation; • regulation of apoptotic process; • positive regulation of neuroblast proliferation; • regulation of transcription, DNA-templated; • limb morphogenesis; • negative regulation of smoothened signaling pathway; • kidney development; • lung development; • tube development; • embryonic organ development; • lateral ganglionic eminence cell proliferation; • negative regulation of cell differentiation; • embryonic digit morphogenesis; • negative regulation of alpha-beta T cell differentiation; • in utero embryonic development; • transcription, DNA-templated; • negative thymic T cell selection; • positive regulation of transcription, DNA-templated; • heart development; • central nervous system development; • telencephalon development; • branching involved in ureteric bud morphogenesis; • embryonic limb morphogenesis; • neural tube development; • positive regulation of protein import into nucleus; • smoothened signaling pathway; • camera-type eye development; • spinal cord motor neuron differentiation; • positive regulation of alpha-beta T cell differentiation; • lambdoid suture morphogenesis; • regulation of bone development; • roof of mouth development; • proximal/distal pattern formation; • anatomical structure development; • بهبود زخم; • negative regulation of apoptotic process; • negative regulation of transcription by RNA polymerase II; • response to estrogen; • cerebral cortex radial glia guided migration; • positive regulation of osteoblast differentiation; • developmental growth; • pallium development; • mammary gland specification; • frontal suture morphogenesis; • anterior semicircular canal development; • ساماندهی بیان ژن; • negative regulation of transcription, DNA-templated; • dorsal/ventral pattern formation; • branching morphogenesis of an epithelial tube; • embryonic digestive tract development; • subpallium development; • sagittal suture morphogenesis; • forebrain dorsal/ventral pattern formation; • protein processing; • axon guidance; • brain development; • smoothened signaling pathway involved in dorsal/ventral neural tube patterning; • forebrain radial glial cell differentiation; • regulation of cell population proliferation; • smoothened signaling pathway involved in spinal cord motor neuron cell fate specification; • layer formation in cerebral cortex; • embryonic morphogenesis; • artery development; • cell differentiation involved in kidney development; • regulation of cell differentiation; • forebrain development; • neuron fate commitment; • hippocampus development; • camera-type eye morphogenesis; • anterior/posterior pattern specification; • positive regulation of transcription by RNA polymerase II; • transcription by RNA polymerase II; • prostate gland development; • liver regeneration;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2737
	14634
	ENSG00000106571
	ENSMUSG00000021318
	P10071
	Q61602
	NM_000168، XM_017011997 XM_011515274، NM_000168، XM_017011997
	XM_006516552، XM_017315389 NM_008130، XM_006516552، XM_017315389
	XP_011513576، XP_016867486 NP_000159، XP_011513576، XP_016867486
	XP_017170878 NP_032156، XP_017170878
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

GLI3 با نامِ کامل پروتئین GLI3 انگشت روی (انگلیسی: Zinc finger protein GLI3‎) یک پروتئین است که در انسان توسط ژن «GLI3» کُدگذاری می‌شود.[4][5]

نقش و اهمیت بالینی

این پروتئین در رویان‌زایی،[5] شکل‌گیری انگشت پا،[6] و همچنین در شکل‌گیری غضروف و اندازهٔ سوراخ‌های بینی انسان نقش دارد.[7] جهش در ژن «GLI3» در موش‌ها، سبب ناهنجاری‌هایی در دستگاه عصبی مرکزی، شـُش و همچنین پُـرانگشتی می‌شود.[8][9][10][11][12] در انسان نیز جهش در این ژن سبب بروز ناهنجاری‌های مختلفی از جمله «سندرم کِـرِگ سفالوپلی‌سینداکتیلی» می‌گردد.[5]

منابع

GRCm38: Ensembl release 89: ENSMUSG00000021318 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Ruppert JM, Vogelstein B, Arheden K, Kinzler KW (October 1990). "GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity". Molecular and Cellular Biology. 10 (10): 5408–15. doi:10.1128/mcb.10.10.5408. PMC 361243. PMID 2118997.
"Entrez Gene: GLI3 GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)".
te Welscher P, Fernandez-Teran M, Ros MA, Zeller R (February 2002). "Mutual genetic antagonism involving GLI3 and dHAND prepatterns the vertebrate limb bud mesenchyme prior to SHH signaling". Genes & Development. 16 (4): 421–6. doi:10.1101/gad.219202. PMC 155343. PMID 11850405.
«Five genes that give your nose its shape». American Association for the Advancement of Science.
Rash BG, Grove EA (October 2007). "Patterning the dorsal telencephalon: a role for sonic hedgehog?". The Journal of Neuroscience. 27 (43): 11595–603. doi:10.1523/jneurosci.3204-07.2007. PMC 6673221 Check |pmc= value (help). PMID 17959802.
Franz T (1994). "Extra-toes (Xt) homozygous mutant mice demonstrate a role for the Gli-3 gene in the development of the forebrain". Acta Anatomica. 150 (1): 38–44. doi:10.1159/000147600. PMID 7976186.
Grove EA, Tole S, Limon J, Yip L, Ragsdale CW (June 1998). "The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice". Development. 125 (12): 2315–25. PMID 9584130.
Hui CC, Joyner AL (March 1993). "A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene". Nature Genetics. 3 (3): 241–6. doi:10.1038/ng0393-241. PMID 8387379. S2CID 345712.
Schimmang T, Lemaistre M, Vortkamp A, Rüther U (November 1992). "Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt)". Development. 116 (3): 799–804. PMID 1289066.

مشارکت‌کنندگان ویکی‌پدیا. «GLI3». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۱۵ فوریه ۲۰۲۱.

پیوند به بیرون

GLI3 protein, human در سرعنوان‌های موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000021318 - Ensembl, May 2017

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

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

[pmid2118997-4] Ruppert JM, Vogelstein B, Arheden K, Kinzler KW (October 1990). "GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity". Molecular and Cellular Biology. 10 (10): 5408–15. doi:10.1128/mcb.10.10.5408. PMC 361243. PMID 2118997.

[entrez-5] "Entrez Gene: GLI3 GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)".

[pmid11850405-6] te Welscher P, Fernandez-Teran M, Ros MA, Zeller R (February 2002). "Mutual genetic antagonism involving GLI3 and dHAND prepatterns the vertebrate limb bud mesenchyme prior to SHH signaling". Genes & Development. 16 (4): 421–6. doi:10.1101/gad.219202. PMC 155343. PMID 11850405.

[7] «Five genes that give your nose its shape». American Association for the Advancement of Science.

[8] Rash BG, Grove EA (October 2007). "Patterning the dorsal telencephalon: a role for sonic hedgehog?". The Journal of Neuroscience. 27 (43): 11595–603. doi:10.1523/jneurosci.3204-07.2007. PMC 6673221 Check |pmc= value (help). PMID 17959802.

[pmid7976186-9] Franz T (1994). "Extra-toes (Xt) homozygous mutant mice demonstrate a role for the Gli-3 gene in the development of the forebrain". Acta Anatomica. 150 (1): 38–44. doi:10.1159/000147600. PMID 7976186.

[pmid9584130-10] Grove EA, Tole S, Limon J, Yip L, Ragsdale CW (June 1998). "The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice". Development. 125 (12): 2315–25. PMID 9584130.

[pmid8387379-11] Hui CC, Joyner AL (March 1993). "A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene". Nature Genetics. 3 (3): 241–6. doi:10.1038/ng0393-241. PMID 8387379. S2CID 345712.

[pmid1289066-12] Schimmang T, Lemaistre M, Vortkamp A, Rüther U (November 1992). "Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt)". Development. 116 (3): 799–804. PMID 1289066.