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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
1
Cytoband
p22.1
Chromosome location (bp)
92473043 - 92486925
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription repressor essential for hematopoiesis 1,2,3,4,5,6,7. Functions in a cell-context and development-specific manner 8,9,10,11,12,13,14. Binds to 5'-TAAATCAC[AT]GCA-3' in the promoter region of a large number of genes 15,16,17,18,19,20,21. Component of several complexes, including the EHMT2-GFI1-HDAC1, AJUBA-GFI1-HDAC1 and RCOR-GFI-KDM1A-HDAC complexes, that suppress, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development 22. Regulates neutrophil differentiation, promotes proliferation of lymphoid cells, and is required for granulocyte development 23. Inhibits SPI1 transcriptional activity at macrophage-specific genes, repressing macrophage differentiation of myeloid progenitor cells and promoting granulocyte commitment (By similarity). Mediates, together with U2AF1L4, the alternative splicing of CD45 and controls T-cell receptor signaling (By similarity). Regulates the endotoxin-mediated Toll-like receptor (TLR) inflammatory response by antagonizing RELA 24. Cooperates with CBFA2T2 to regulate ITGB1-dependent neurite growth 25. Controls cell-cycle progression by repressing CDKNIA/p21 transcription in response to TGFB1 via recruitment of GFI1 by ZBTB17 to the CDKNIA/p21 and CDKNIB promoters 26. Required for the maintenance of inner ear hair cells (By similarity). In addition to its role in transcription, acts as a substrate adapter for PRMT1 in the DNA damage response: facilitates the recognition of TP53BP1 and MRE11 substrates by PRMT1, promoting their methylation and the DNA damage response 27....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
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 nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified 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 Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000083[regulation of transcription involved in G1/S transition of mitotic cell cycle] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010956[negative regulation of calcidiol 1-monooxygenase activity] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0010977[negative regulation of neuron projection development] GO:0016032[viral process] GO:0016363[nuclear matrix] GO:0016604[nuclear body] GO:0017053[transcription repressor complex] GO:0030097[hemopoiesis] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0034121[regulation of toll-like receptor signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051569[regulation of histone H3-K4 methylation] GO:0070105[positive regulation of interleukin-6-mediated signaling pathway] GO:0071222[cellular response to lipopolysaccharide] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000083[regulation of transcription involved in G1/S transition of mitotic cell cycle] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010956[negative regulation of calcidiol 1-monooxygenase activity] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0010977[negative regulation of neuron projection development] GO:0016032[viral process] GO:0016363[nuclear matrix] GO:0016604[nuclear body] GO:0017053[transcription repressor complex] GO:0030097[hemopoiesis] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0034121[regulation of toll-like receptor signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051569[regulation of histone H3-K4 methylation] GO:0070105[positive regulation of interleukin-6-mediated signaling pathway] GO:0071222[cellular response to lipopolysaccharide] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Immune system diseases Primary immunodeficiency Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000083[regulation of transcription involved in G1/S transition of mitotic cell cycle] GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0010956[negative regulation of calcidiol 1-monooxygenase activity] GO:0010957[negative regulation of vitamin D biosynthetic process] GO:0010977[negative regulation of neuron projection development] GO:0016032[viral process] GO:0016363[nuclear matrix] GO:0016604[nuclear body] GO:0017053[transcription repressor complex] GO:0030097[hemopoiesis] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0034121[regulation of toll-like receptor signaling pathway] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0051569[regulation of histone H3-K4 methylation] GO:0070105[positive regulation of interleukin-6-mediated signaling pathway] GO:0071222[cellular response to lipopolysaccharide] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency
Show all
GO:0006355[regulation of DNA-templated transcription] GO:0030097[hemopoiesis] GO:0051569[regulation of histone H3-K4 methylation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency
Show all
GO:0006355[regulation of DNA-templated transcription] GO:0030097[hemopoiesis] GO:0051569[regulation of histone H3-K4 methylation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Immune system diseases Primary immunodeficiency
Show all
GO:0006355[regulation of DNA-templated transcription] GO:0030097[hemopoiesis] GO:0051569[regulation of histone H3-K4 methylation]