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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
X
Cytoband
p11.23
Chromosome location (bp)
48786540 - 48794311
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional activator or repressor which serves as a general switch factor for erythroid development 1. It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
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GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0009653[anatomical structure morphogenesis] GO:0030154[cell differentiation] GO:0030218[erythrocyte differentiation] GO:0030219[megakaryocyte differentiation] GO:0030221[basophil differentiation] GO:0030222[eosinophil differentiation] GO:0043565[sequence-specific DNA binding] GO:0046872[metal ion binding] GO:0048731[system development] GO:0048821[erythrocyte development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001221[transcription coregulator binding] GO:0001223[transcription coactivator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001701[in utero embryonic development] GO:0002039[p53 binding] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007204[positive regulation of cytosolic calcium ion concentration] GO:0007267[cell-cell signaling] GO:0008270[zinc ion binding] GO:0008283[cell population proliferation] GO:0008285[negative regulation of cell population proliferation] GO:0008584[male gonad development] GO:0009653[anatomical structure morphogenesis] GO:0010559[regulation of glycoprotein biosynthetic process] GO:0010724[regulation of definitive erythrocyte differentiation] GO:0010725[regulation of primitive erythrocyte differentiation] GO:0017053[transcription repressor complex] GO:0030099[myeloid cell differentiation] GO:0030154[cell differentiation] GO:0030218[erythrocyte differentiation] GO:0030219[megakaryocyte differentiation] GO:0030220[platelet formation] GO:0030221[basophil differentiation] GO:0030222[eosinophil differentiation] GO:0030282[bone mineralization] GO:0030502[negative regulation of bone mineralization] GO:0031100[animal organ regeneration] GO:0031490[chromatin DNA binding] GO:0032993[protein-DNA complex] GO:0033028[myeloid cell apoptotic process] GO:0033033[negative regulation of myeloid cell apoptotic process] GO:0033687[osteoblast proliferation] GO:0033690[positive regulation of osteoblast proliferation] GO:0035162[embryonic hemopoiesis] GO:0035854[eosinophil fate commitment] GO:0043066[negative regulation of apoptotic process] GO:0043306[positive regulation of mast cell degranulation] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048468[cell development] GO:0048731[system development] GO:0048821[erythrocyte development] GO:0048873[homeostasis of number of cells within a tissue] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0060009[Sertoli cell development] GO:0060319[primitive erythrocyte differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070527[platelet aggregation] GO:0070742[C2H2 zinc finger domain binding] GO:0071222[cellular response to lipopolysaccharide] GO:0071320[cellular response to cAMP] GO:0071372[cellular response to follicle-stimulating hormone stimulus] GO:0097028[dendritic cell differentiation] GO:0097067[cellular response to thyroid hormone stimulus] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001221[transcription coregulator binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0008584[male gonad development] GO:0009653[anatomical structure morphogenesis] GO:0010559[regulation of glycoprotein biosynthetic process] GO:0010724[regulation of definitive erythrocyte differentiation] GO:0017053[transcription repressor complex] GO:0030154[cell differentiation] GO:0030218[erythrocyte differentiation] GO:0030219[megakaryocyte differentiation] GO:0030220[platelet formation] GO:0030221[basophil differentiation] GO:0030222[eosinophil differentiation] GO:0031490[chromatin DNA binding] GO:0032993[protein-DNA complex] GO:0035854[eosinophil fate commitment] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045648[positive regulation of erythrocyte differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048731[system development] GO:0048821[erythrocyte development] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070527[platelet aggregation] GO:0070742[C2H2 zinc finger domain binding] GO:0097067[cellular response to thyroid hormone stimulus] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001240[negative regulation of extrinsic apoptotic signaling pathway in absence of ligand]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0030218[erythrocyte differentiation] GO:0030219[megakaryocyte differentiation] GO:0030221[basophil differentiation] GO:0030222[eosinophil differentiation] GO:0043565[sequence-specific DNA binding] GO:0048821[erythrocyte development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0030218[erythrocyte differentiation] GO:0030219[megakaryocyte differentiation] GO:0030221[basophil differentiation] GO:0030222[eosinophil differentiation] GO:0043565[sequence-specific DNA binding] GO:0048821[erythrocyte development]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0030218[erythrocyte differentiation] GO:0030219[megakaryocyte differentiation] GO:0030221[basophil differentiation] GO:0030222[eosinophil differentiation] GO:0043565[sequence-specific DNA binding] GO:0048821[erythrocyte development]
The Human Protein Atlas project is funded
