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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).
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
11
Cytoband
p11.2
Chromosome location (bp)
47354860 - 47378547
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Pioneer transcription factor, which controls hematopoietic cell fate by decompacting stem cell heterochromatin and allowing other transcription factors to enter otherwise inaccessible genomic sites. Once in open chromatin, can directly control gene expression by binding genetic regulatory elements and can also more broadly influence transcription by recruiting transcription factors, such as interferon regulatory factors (IRFs), to otherwise inaccessible genomic regions 1,2. Transcriptionally activates genes important for myeloid and lymphoid lineages, such as CSF1R (By similarity). Transcriptional activation from certain promoters, possibly containing low affinity binding sites, is achieved cooperatively with other transcription factors. FCER1A transactivation is achieved in cooperation with GATA1 (By similarity). May be particularly important for the pro-to pre-B cell transition 3. Binds (via the ETS domain) onto the purine-rich DNA core sequence 5'-GAGGAA-3', also known as the PU-box 4. In vitro can bind RNA and interfere with pre-mRNA splicing (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [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 Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001216[DNA-binding transcription activator activity] GO:0001217[DNA-binding transcription repressor activity] GO:0002357[defense response to tumor cell] GO:0002572[pro-T cell differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003723[RNA binding] 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:0010629[negative regulation of gene expression] GO:0030154[cell differentiation] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0036462[TRAIL-activated apoptotic signaling pathway] GO:0042826[histone deacetylase binding] GO:0043314[negative regulation of neutrophil degranulation] GO:0043565[sequence-specific DNA binding] GO:0045579[positive regulation of B cell differentiation] GO:0045646[regulation of erythrocyte differentiation] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051090[regulation of DNA-binding transcription factor activity] GO:0051525[NFAT protein binding] GO:0060090[molecular adaptor activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070102[interleukin-6-mediated signaling pathway] GO:0090402[oncogene-induced cell senescence] GO:0097677[STAT family protein binding] GO:0098508[endothelial to hematopoietic transition] GO:0120186[negative regulation of protein localization to chromatin] GO:0140297[DNA-binding transcription factor binding] GO:0140311[protein sequestering activity] GO:1900745[positive regulation of p38MAPK cascade] GO:1901223[negative regulation of NIK/NF-kappaB signaling] GO:1902895[positive regulation of miRNA transcription] GO:1904151[positive regulation of microglial cell mediated cytotoxicity] GO:1904178[negative regulation of adipose tissue development] GO:1904238[pericyte cell differentiation] GO:1905036[positive regulation of antifungal innate immune response] GO:1905453[regulation of myeloid progenitor cell differentiation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001216[DNA-binding transcription activator activity] GO:0001217[DNA-binding transcription repressor activity] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001944[vasculature development] GO:0002314[germinal center B cell differentiation] GO:0002316[follicular B cell differentiation] GO:0002320[lymphoid progenitor cell differentiation] GO:0002327[immature B cell differentiation] GO:0002357[defense response to tumor cell] GO:0002572[pro-T cell differentiation] GO:0002573[myeloid leukocyte differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0003723[RNA binding] 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:0007179[transforming growth factor beta receptor signaling pathway] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0030098[lymphocyte differentiation] GO:0030154[cell differentiation] GO:0030218[erythrocyte differentiation] GO:0030225[macrophage differentiation] GO:0030851[granulocyte differentiation] GO:0031663[lipopolysaccharide-mediated signaling pathway] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0035019[somatic stem cell population maintenance] GO:0036462[TRAIL-activated apoptotic signaling pathway] GO:0042826[histone deacetylase binding] GO:0043011[myeloid dendritic cell differentiation] GO:0043314[negative regulation of neutrophil degranulation] GO:0043565[sequence-specific DNA binding] GO:0045347[negative regulation of MHC class II biosynthetic process] GO:0045579[positive regulation of B cell differentiation] GO:0045646[regulation of erythrocyte differentiation] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0051090[regulation of DNA-binding transcription factor activity] GO:0051525[NFAT protein binding] GO:0060033[anatomical structure regression] GO:0060090[molecular adaptor activity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070102[interleukin-6-mediated signaling pathway] GO:0090402[oncogene-induced cell senescence] GO:0097677[STAT family protein binding] GO:0098508[endothelial to hematopoietic transition] GO:0120186[negative regulation of protein localization to chromatin] GO:0140297[DNA-binding transcription factor binding] GO:0140311[protein sequestering activity] GO:1900745[positive regulation of p38MAPK cascade] GO:1901223[negative regulation of NIK/NF-kappaB signaling] GO:1902262[apoptotic process involved in blood vessel morphogenesis] GO:1902895[positive regulation of miRNA transcription] GO:1904151[positive regulation of microglial cell mediated cytotoxicity] GO:1904178[negative regulation of adipose tissue development] GO:1904238[pericyte cell differentiation] GO:1905036[positive regulation of antifungal innate immune response] GO:1905453[regulation of myeloid progenitor cell differentiation] GO:2000529[positive regulation of myeloid dendritic cell chemotaxis]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
