GATA1

GATA1
ساختارهای موجود
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1GNF, 1Y0J, 2L5E, 2L6Y, 2L6Z, 3VD6, 3VEK
معین‌کننده‌ها
نام‌های دیگر	GATA1, ERYF1, GATA-1, GF-1, GF1, NF-E1, NFE1, XLANP, XLTDA, XLTT, GATA binding protein 1
شناسه‌های بیرونی	OMIM: 305371 MGI: 95661 HomoloGene: 1549 GeneCards: GATA1
Gene location (Human)
Chr.	X chromosome (human)[1]
End	48,794,311 bp[1]
Gene location (Mouse)
Chr.	X chromosome (mouse)[2]
End	7,978,071 bp[2]
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• C2H2 zinc finger domain binding; • GO:0000975 transcription cis-regulatory region binding; • sequence-specific DNA binding; • RNA polymerase II core promoter sequence-specific DNA binding; • DNA binding; • p53 binding; • DNA binding, bending; • chromatin DNA binding; • GO:0001077، GO:0001212، GO:0001213، GO:0001211، GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • RNA polymerase II transcription regulatory region sequence-specific DNA binding; • GO:0001948 پیوند پروتئینی; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • chromatin binding; • GO:0001131، GO:0001151، GO:0001130، GO:0001204 DNA-binding transcription factor activity; • GO:0001078، GO:0001214، GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; • zinc ion binding; • metal ion binding; • GO:0001200، GO:0001133، GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific;
ترکیبات سلولی	• هسته یاخته; • نوکلئوپلاسم; • transcription repressor complex; • transcription regulator complex; • protein-DNA complex;
فرایند زیستی	• negative regulation of cell population proliferation; • negative regulation of transcription regulatory region DNA binding; • eosinophil fate commitment; • in utero embryonic development; • regulation of glycoprotein biosynthetic process; • cellular response to thyroid hormone stimulus; • انعقاد خون; • erythrocyte differentiation; • platelet formation; • positive regulation of osteoblast proliferation; • transcription by RNA polymerase II; • platelet aggregation; • negative regulation of extrinsic apoptotic signaling pathway in absence of ligand; • regulation of transcription, DNA-templated; • regulation of primitive erythrocyte differentiation; • positive regulation of transcription, DNA-templated; • regulation of definitive erythrocyte differentiation; • cell-cell signaling; • embryonic hemopoiesis; • cell development; • positive regulation of erythrocyte differentiation; • positive regulation of transcription by RNA polymerase II; • megakaryocyte differentiation; • dendritic cell differentiation; • positive regulation of peptidyl-tyrosine phosphorylation; • negative regulation of bone mineralization; • negative regulation of transcription by RNA polymerase II; • male gonad development; • myeloid cell differentiation; • negative regulation of apoptotic process; • homeostasis of number of cells within a tissue; • transcription, DNA-templated; • basophil differentiation; • eosinophil differentiation; • erythrocyte development; • regulation of megakaryocyte differentiation; • regulation of hematopoietic stem cell differentiation; • heart development; • animal organ morphogenesis; • بافت زایی; • anatomical structure formation involved in morphogenesis; • digestive tract development;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	2623
	14460
	ENSG00000102145
	ENSMUSG00000031162
	P15976
	P17679
	NM_002049
	XM_011247448 NM_008089، XM_011247448
	XP_011542199، XP_011542200، XP_024308131 NP_002040، XP_011542199، XP_011542200، XP_024308131
	XP_011245750 NP_032115، XP_011245750
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

فاکتور رونویسی اریتروئید (انگلیسی: Erythroid transcription factor‎) که با نام‌های فاکتور ۱ متصل‌شونده به GATA یا GATA-1 شناخته می‌شود، یک پروتئین است که در انسان توسط ژن «GATA1» کُدگذاری می‌شود.[5]

عملکرد و اهمیت بالینی

این پروتئین یکی از اعضای خانوادهٔ فاکتورهای رونویسی GATA است که یکی از میانجی‌های مهم در تشکیل برخی سلول‌های خونی از سلول‌های پیش‌سازشان موسم به سلول‌های بنیادی خونساز هستند.[6][7]

پروتئین GATA-1 برای بلوغ گلبول‌های قرمز، مگاکاریوسیت‌ها، سلول‌های ماست‌سل و ائوزینوفیل‌ها ضروری هستند.[8]

جهش در ژنِ GATA1 در انسان، منجر به بروز کم‌خونی و کاهش پلاکت‌های خون می‌گردد.[9][10] همچنین جهش در اگزون ۲ در همین ژن، تقریباً در تمامی افراد مبتلا به «لوسمی مگاکاریوبلاستیک حاد وابسته به سندرم داون» (DS-AMKL) مشاهده می‌شود.[11][12] گونهٔ معمولی این سرطان نادر خون (یعنی نوعِ غیروابسته به سندرم داون) به‌دلیل جابه‌جایی کروموزومی (۱؛۲۲) رخ می‌دهد. از آنجایی که این جهش از زمان تولد در جنین موجود است، حضور آن در هنگام تولد، ممکن است به‌عنوان یک نشانگر زیستی از افزایش احتمال بروز این سرطان خون در آینده، قابل استفاده باشد.[13]

منابع

GRCh38: Ensembl release 89: ENSG00000102145 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000031162 - 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.
Caiulo A, Nicolis S, Bianchi P, Zuffardi O, Bardoni B, Maraschio P, Ottolenghi S, Camerino G, Giglioni B (Feb 1991). "Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23". Human Genetics. 86 (4): 388–90. doi:10.1007/bf00201840. PMID 1999341.
Bresnick EH, Katsumura KR, Lee HY, Johnson KD, Perkins AS (2012). "Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies". Nucleic Acids Res. 40 (13): 5819–31. doi:10.1093/nar/gks281. PMC 3401466. PMID 22492510.
Bresnick EH, Lee HY, Fujiwara T, Johnson KD, Keles S (2010). "GATA switches as developmental drivers". J. Biol. Chem. 285 (41): 31087–93. doi:10.1074/jbc.R110.159079. PMC 2951181. PMID 20670937.
Crispino JD (Feb 2005). "GATA1 in normal and malignant hematopoiesis". Seminars in Cell & Developmental Biology. 16 (1): 137–47. doi:10.1016/j.semcdb.2004.11.002. PMID 15659348.
Crispino JD, Weiss MJ (May 2014). "Erythro-megakaryocytic transcription factors associated with hereditary anemia". Blood. 123 (20): 3080–8. doi:10.1182/blood-2014-01-453167. PMC 4023417. PMID 24652993.
Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ (Mar 2000). "Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1". Nature Genetics. 24 (3): 266–70. doi:10.1038/73480. PMID 10700180.
Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD (Sep 2002). "Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome". Nature Genetics. 32 (1): 148–52. doi:10.1038/ng955. PMID 12172547.
Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, Amariglio N, Biondi A, Muler I, Rechavi G, Kempski H, Haas OA, Izraeli S (Aug 2003). "Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21". Blood. 102 (3): 981–6. doi:10.1182/blood-2002-11-3599. PMID 12649131.
Shimada A, Xu G, Toki T, Kimura H, Hayashi Y, Ito E (Jan 2004). "Fetal origin of the GATA1 mutation in identical twins with transient myeloproliferative disorder and acute megakaryoblastic leukemia accompanying Down syndrome". Blood. 103 (1): 366. doi:10.1182/blood-2003-09-3219. PMID 14684662.

مشارکت‌کنندگان ویکی‌پدیا. «GATA1». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۶ آوریل ۲۰۱۸.

بیشتر بخوانید

Ohneda K, Yamamoto M (2003). "Roles of hematopoietic transcription factors GATA-1 and GATA-2 in the development of red blood cell lineage". Acta Haematologica. 108 (4): 237–45. doi:10.1159/000065660. PMID 12432220.
Gurbuxani S, Vyas P, Crispino JD (Jan 2004). "Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome". Blood. 103 (2): 399–406. doi:10.1182/blood-2003-05-1556. PMID 14512321.
Muntean AG, Ge Y, Taub JW, Crispino JD (Jun 2006). "Transcription factor GATA-1 and Down syndrome leukemogenesis". Leukemia & Lymphoma. 47 (6): 986–97. doi:10.1080/10428190500485810. PMID 16840187.
Trainor CD, Evans T, Felsenfeld G, Boguski MS (Jan 1990). "Structure and evolution of a human erythroid transcription factor". Nature. 343 (6253): 92–6. doi:10.1038/343092a0. PMID 2104960.
Zon LI, Tsai SF, Burgess S, Matsudaira P, Bruns GA, Orkin SH (Jan 1990). "The major human erythroid DNA-binding protein (GF-1): primary sequence and localization of the gene to the X chromosome". Proceedings of the National Academy of Sciences of the United States of America. 87 (2): 668–72. doi:10.1073/pnas.87.2.668. PMC 53326. PMID 2300555.
Martin DI, Tsai SF, Orkin SH (Mar 1989). "Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor". Nature. 338 (6214): 435–8. doi:10.1038/338435a0. PMID 2467208.
Mouthon MA, Bernard O, Mitjavila MT, Romeo PH, Vainchenker W, Mathieu-Mahul D (Feb 1993). "Expression of tal-1 and GATA-binding proteins during human hematopoiesis". Blood. 81 (3): 647–55. PMID 7678994.
Zon LI, Yamaguchi Y, Yee K, Albee EA, Kimura A, Bennett JC, Orkin SH, Ackerman SJ (Jun 1993). "Expression of mRNA for the GATA-binding proteins in human eosinophils and basophils: potential role in gene transcription". Blood. 81 (12): 3234–41. PMID 8507862.
Tsang AP, Visvader JE, Turner CA, Fujiwara Y, Yu C, Weiss MJ, Crossley M, Orkin SH (Jul 1997). "FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation". Cell. 90 (1): 109–19. doi:10.1016/S0092-8674(00)80318-9. PMID 9230307.
Rekhtman N, Radparvar F, Evans T, Skoultchi AI (Jun 1999). "Direct interaction of hematopoietic transcription factors PU.1 and GATA-1: functional antagonism in erythroid cells". Genes & Development. 13 (11): 1398–411. doi:10.1101/gad.13.11.1398. PMC 316770. PMID 10364157.
Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts MF, Vermylen J, Van Geet C (Jul 2001). "Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation". Blood. 98 (1): 85–92. doi:10.1182/blood.V98.1.85. PMID 11418466.
Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG (Nov 2001). "X-linked thrombocytopenia caused by a novel mutation of GATA-1". Blood. 98 (9): 2681–8. doi:10.1182/blood.V98.9.2681. PMID 11675338.
Crawford SE, Qi C, Misra P, Stellmach V, Rao MS, Engel JD, Zhu Y, Reddy JK (Feb 2002). "Defects of the heart, eye, and megakaryocytes in peroxisome proliferator activator receptor-binding protein (PBP) null embryos implicate GATA family of transcription factors". The Journal of Biological Chemistry. 277 (5): 3585–92. doi:10.1074/jbc.M107995200. PMID 11724781.
Freson K, Matthijs G, Thys C, Mariën P, Hoylaerts MF, Vermylen J, Van Geet C (Jan 2002). "Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation". Human Molecular Genetics. 11 (2): 147–52. doi:10.1093/hmg/11.2.147. PMID 11809723.
Molete JM, Petrykowska H, Sigg M, Miller W, Hardison R (Jan 2002). "Functional and binding studies of HS3.2 of the beta-globin locus control region". Gene. 283 (1–2): 185–97. doi:10.1016/S0378-1119(01)00858-7. PMID 11867225.
Hirasawa R, Shimizu R, Takahashi S, Osawa M, Takayanagi S, Kato Y, Onodera M, Minegishi N, Yamamoto M, Fukao K, Taniguchi H, Nakauchi H, Iwama A (Jun 2002). "Essential and instructive roles of GATA factors in eosinophil development". The Journal of Experimental Medicine. 195 (11): 1379–86. doi:10.1084/jem.20020170. PMC 2193540. PMID 12045236.

پیوند به بیرون

GATA1 در دانشنامهٔ اجزای دی‌ان‌ای

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000102145 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031162 - Ensembl, May 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.

[pmid1999341-5] Caiulo A, Nicolis S, Bianchi P, Zuffardi O, Bardoni B, Maraschio P, Ottolenghi S, Camerino G, Giglioni B (Feb 1991). "Mapping the gene encoding the human erythroid transcriptional factor NFE1-GF1 to Xp11.23". Human Genetics. 86 (4): 388–90. doi:10.1007/bf00201840. PMID 1999341.

[pmid22492510-6] Bresnick EH, Katsumura KR, Lee HY, Johnson KD, Perkins AS (2012). "Master regulatory GATA transcription factors: mechanistic principles and emerging links to hematologic malignancies". Nucleic Acids Res. 40 (13): 5819–31. doi:10.1093/nar/gks281. PMC 3401466. PMID 22492510.

[pmid20670937-7] Bresnick EH, Lee HY, Fujiwara T, Johnson KD, Keles S (2010). "GATA switches as developmental drivers". J. Biol. Chem. 285 (41): 31087–93. doi:10.1074/jbc.R110.159079. PMC 2951181. PMID 20670937.

[8] Crispino JD (Feb 2005). "GATA1 in normal and malignant hematopoiesis". Seminars in Cell & Developmental Biology. 16 (1): 137–47. doi:10.1016/j.semcdb.2004.11.002. PMID 15659348.

[9] Crispino JD, Weiss MJ (May 2014). "Erythro-megakaryocytic transcription factors associated with hereditary anemia". Blood. 123 (20): 3080–8. doi:10.1182/blood-2014-01-453167. PMC 4023417. PMID 24652993.

[10] Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ (Mar 2000). "Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1". Nature Genetics. 24 (3): 266–70. doi:10.1038/73480. PMID 10700180.

[pmid12172547-11] Wechsler J, Greene M, McDevitt MA, Anastasi J, Karp JE, Le Beau MM, Crispino JD (Sep 2002). "Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome". Nature Genetics. 32 (1): 148–52. doi:10.1038/ng955. PMID 12172547.

[pmid12649131-12] Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, Amariglio N, Biondi A, Muler I, Rechavi G, Kempski H, Haas OA, Izraeli S (Aug 2003). "Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21". Blood. 102 (3): 981–6. doi:10.1182/blood-2002-11-3599. PMID 12649131.

[pmid14684662-13] Shimada A, Xu G, Toki T, Kimura H, Hayashi Y, Ito E (Jan 2004). "Fetal origin of the GATA1 mutation in identical twins with transient myeloproliferative disorder and acute megakaryoblastic leukemia accompanying Down syndrome". Blood. 103 (1): 366. doi:10.1182/blood-2003-09-3219. PMID 14684662.