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FLASH GENE

Symbol

GATA1

contributors: mct/ - updated : 07-03-2017

HGNC name	GATA binding protein 1 (globin transcription factor 1)
HGNC id	4170

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMKLDS acute megakaryoblastic leukemia, Down syndrome-related CDATX dyserythropoietic anemia with thrombocytopenia CEPX porphyria congenita erythropoietic, X-linked XLTT thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
Location	Xp11.23      Physical location : 48.644.981 - 48.652.715
Synonym name	erythroid transcription factor 1
	NF-E1 DNA-binding protein
	globin transcription factor 1
Synonym symbol(s)	GF1, ERYF1, NFE1, GAT1, GATA-1

DNA

TYPE	functioning gene
STRUCTURE	7.74 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - DXS6784 - DXS722 - GATA1 - DXS8281 - DXS1693 - cen
Authors	UCSC (2009)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002049 6 - 1501 NP_002040 42.8 413 - 2010 20679399 also called variant 1L variant 2 - initiation site - isoform 2 40 330 - 2010 20679399 also called GATA1S lacks 83 amino acids at the N-terminal region, i.e., the N-terminal transactivation domain internal AUG codon not sufficient to support normal erythropoiesis normal DNA binding activity but a reduced transactivation potential, which is in agreement with the reported role of the N terminus as a transactivation domain

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Reproductive male system testis       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic basophil Homo sapiens Blood/Hematopoietic eosinophil Homo sapiens Blood/Hematopoietic erythroid Homo sapiens Blood/Hematopoietic megakaryocyte Homo sapiens not specific mast cell Homo sapiens Reproductive Sertoli cell

cell lineage	hematopoietic progenitor cells
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a transactivation domain located in the N terminus (N-TAD) and two zinc finger domains located in the middle of the molecule
	C-terminal zinc finger (C-finger) essential for GATA1 function, since it is responsible for the recognition of the GATA consensus sequence and consequent binding to DNA, C-terminal and this region of GATA1 indeed functions as a transactivation domain
	both N-TAD and C-TAD retain redundant as well as specific activities for proper hematopoiesis

HOMOLOGY

Homologene

FAMILY

GATA zinc finger transcription factor family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus,nucleoplasm,nuclear bodies
text	associated with a special class of nuclear bodies
	export of GATA1 from the endoplasmic reticulum (ER) is contingent on its interaction with the COPII (coatomer protein-II) coat subunit SEC24D

basic FUNCTION	regulation of erythroid development and their critical genes, i.e the globin genes
	playing a role in osteoblast differentiation
	essential for terminal erythroid and megakaryocytic differentiation
	involved in regulation of the switch from fetal to adult hemoglobin and in osteoblast differentiation
	required with FLI1 for development of megakaryocytes
	playing an essential role for normal erythropoiesis, also in eosinophil development, in the terminal differentiation of mast cells
	under the influence of GATA1, TRIM35 relocates from cytoplasmic granules to the nucleus where it associates with both ZFPM1 and GATA1
	with ZNF148, cooccupy cis-regulatory elements of certain erythroid and megakaryocyte-specific genes, including an enhancer of the GATA1 gene itself
	activating transcription of the erythropoietin receptor (EPOR)
	may be playing a role in globin switching
	regulating the angiogenic factor AGGF1
	master regulator of terminal differentiation of erythroid precursors
	continuous presence of GATA1,ZFPM1, and NuRD is required to maintain lineage fidelity throughout megakaryocyte-erythroid ontogeny
	role of GATA1 and IGF signaling in fetal megakaryopoiesis and leukemogenesis in Down syndrome
	is a major determinant of BRD3 recruitment to genomic targets within chromatin
	ZFPM1 is required for the formation of all committed Mk- and E-lineage progenitors, whereas GATA1 was observed to be specifically required for E-lineage commitment
	regulates the expression of a cluster of genes important for hematopoietic cell differentiation toward erythroid and megakaryocytic lineage
	mitotic GATA1 target genes tend to reactivate more rapidly upon entry into G1 than genes from which GATA1 dissociates
	novel function of TAL1, RUNX1 and GATA1 in the transcriptional control of PRKACB activity, with implications for cellular signalling control during differentiation and disease
	unlike GATA1, which inhibits cell division, ZFPM2 promotes proliferation

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

part of the DNA-binding complex containing LMO2, LDB1, TAL1, and GATA1

INTERACTION

DNA	binding sequence

RNA

small molecule

protein	FOG1 (in both megakaryocyte and erythrocyte development
	interacting with ZNF145, coactivating thrombopoetin receptor and inducing megakaryocyte development
	binding to the beta-globin locus
	mediating with NFE2 the erythrocyte expression of alpha-spectrin
	with Sp1 or EKLF (may play a crucial role in bringing regulatory elements such as enhancers in proximity to promoters by promoting the formation of DNA loops)
	interacting with MED1(acting as a coactivator in erythroid development)
	interacting with SPI1 (Ets domain of SPI1 and the GATA1 C-terminal zinc finger (CF) form a low affinity interaction in which specific regions of each protein are implicated)
	GATA1 specifically associates with BCL11A in erythroid cells
	combinatorial effect of Ikaros and GATA1 impairs close proximity between the locus control region and the gamma-globin genes and might represent an important mechanism of gene regulation during hematopoiesis
	direct interaction of GATA1 with EHZF was demonstrated(EHZF modulates erythroid cell differentiation through direct binding with GATA1)
	direct transcriptional target of TAp73alpha
	HMG2B potentiates GATA1-dependent transcription of GFI1B by POU5F1 and thereby controls erythroid differentiation
	interaction between GATA1 and ZFPM1 is critical for the development of both erythroid and megakaryocytic cell lineages
	functional relationship between GATA1 and DMRT1, coexpressed in Sertoli cells
	is a functionally important target gene of SUPT5H
	interacting with BRD3, and this interaction is essential for the targeting of GATA1 to chromatin
	BRD3 binds via its first bromodomain (BD1) to GATA1 in an acetylation-dependent manner
	GATA1 and its cofactor ZFPM1 are required for the differentiation of erythrocytes and megakaryocytes
	exogenous expression of ZFPM1 in mast cells leads to displacement of GATA1 from mast cell-specific genes and causes their downregulation
	utilizes IKAROS and polycomb repressive complex 2 to suppress HES1 and to promote erythropoiesis
	GATA2 and GATA1 positively and negatively control human IL1RL1 gene transcription, respectively and are involved in IL1RL1 transcription levels in primary basophils maintained in the presence of IL3
	CDC6 expression is regulated by lineage-specific transcription factor GATA1
	GATA1 coregulators ZFPM1 and TAL1 dissociate from mitotic chromatin, suggesting that GATA1 functions as platform for their postmitotic recruitment
	CEBPA and/or GATA1 directly suppress the expression of DACH1 through binding to the promoter region
	TAL1 associates with GATA1, GATA2, lim-only protein LMO2, and LDB1 in a multimeric complex to regulate erythroid transcription
	TAL1 can recruit GATA1 and increase GATA1 binding to the EPOR promoter region to stimulate gene expression
	MED1 is a context-dependent GATA1 coregulator, and also exerts specialized functions in erythroid cells to control GATA1-independent, cell-type-specific genes, which include candidate regulators of erythroid cell development and function
	GATA1-dependent looping mechanisms may facilitate the conservation of TAL1 regulation despite cis-regulatory remodeling during vertebrate evolution
	PSTPIP2 is a GATA1-repressed gene that controls megakaryopoiesis
	GATA1 and TAL1 are bound to the regulatory regions of TFDP2 and upregulate its expression
	SPI1 and GATA1 transactivate FCER1A
	GATA1/FOXO3 repressed expression of EXOSC8, a pivotal component of the exosome complex, which mediates RNA surveillance and epigenetic regulation
	HIRA is not only critical for HBB expression but is also required for activation of the erythropoietic regulators KLF1 and GATA binding protein 1 (GATA1)
	KLF1 plays a role in facilitating and/or stabilizing GATA1 and TAL1 occupancy in the erythroid genes, contributing to the generation of active chromatin structure such as histone acetylation and chromatin looping
	GATA2 counteracts the erythroid-specific transcription factor GATA1, to modulate the proliferation and differentiation of hematopoietic cells
	TAL1 together with hematopoietic transcription factors RUNX1 and GATA1 binds to the promoter of the isoform 3 of PRKACB

cell & other

REGULATION

activated by

erythropoietin

inhibited by

inactivated by coactivation of DEATH receptors (TNFRSF6) mediated caspase cleavage

ASSOCIATED DISORDERS

corresponding disease(s)

CDATX , CEPX , AMKLDS , XLTT

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in acute megakaryoblastic leukemia of Down syndrome constitutional germinal mutation       mutation, 332G --> C, in exon 2 of GATA1, leading to the synthesis of only the short isoform, leading by normal male to macrocytic anemia, normal platelet counts and neutropenia tumoral somatic mutation       associated with the myeloproliferative syndrome, transient (TAM) and the acute megakaryoblastic leukemia (AMKL) of Down syndrome tumoral fusion       MYB-GATA1 fusion gene in acute basophilic leukemia

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer digestive liver GATA1-mediated ARHGAP18 might be a potential therapeutic target for HCC

ANIMAL & CELL MODELS

mice deficient in Gata1, transcription factors required for normal megakaryocyte (MK) development, have increased numbers of MKs, reduced numbers of platelets