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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
12
Cytoband
q13.3
Chromosome location (bp)
57459785 - 57472268
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a transcriptional activator 1,2,3,4,5,6. Binds to the DNA consensus sequence 5'-GACCACCCA-3' 7,8,9. Regulates the transcription of specific genes during normal development 10. Plays a role in craniofacial development and digital development, as well as development of the central nervous system and gastrointestinal tract. Mediates SHH signaling 11,12. Plays a role in cell proliferation and differentiation via its role in SHH signaling 13,14....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
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 member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]...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 Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005929[cilium] GO:0005930[axoneme] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0007283[spermatogenesis] GO:0007286[spermatid development] GO:0007418[ventral midline development] GO:0008017[microtubule binding] GO:0008284[positive regulation of cell population proliferation] GO:0008589[regulation of smoothened signaling pathway] GO:0009611[response to wounding] GO:0009913[epidermal cell differentiation] GO:0009953[dorsal/ventral pattern formation] GO:0009954[proximal/distal pattern formation] GO:0021696[cerebellar cortex morphogenesis] GO:0021938[smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation] GO:0021983[pituitary gland development] GO:0030154[cell differentiation] GO:0030324[lung development] GO:0030850[prostate gland development] GO:0043565[sequence-specific DNA binding] GO:0045667[regulation of osteoblast differentiation] GO:0045740[positive regulation of DNA replication] GO:0045880[positive regulation of smoothened signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048546[digestive tract morphogenesis] GO:0060032[notochord regression] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097421[liver regeneration] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1902808[positive regulation of cell cycle G1/S phase transition] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex] GO:2000345[regulation of hepatocyte proliferation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system
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GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0021983[pituitary gland development] GO:0046872[metal ion 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 Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0008284[positive regulation of cell population proliferation] GO:0008589[regulation of smoothened signaling pathway] GO:0009913[epidermal cell differentiation] GO:0021983[pituitary gland development] GO:0030154[cell differentiation] GO:0030335[positive regulation of cell migration] GO:0043565[sequence-specific DNA binding] GO:0045740[positive regulation of DNA replication] GO:0045880[positive regulation of smoothened signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048546[digestive tract morphogenesis] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1902808[positive regulation of cell cycle G1/S phase transition] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system
Show all
GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0021983[pituitary gland development] GO:0043565[sequence-specific DNA binding] GO:0046872[metal ion 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 Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0008284[positive regulation of cell population proliferation] GO:0008589[regulation of smoothened signaling pathway] GO:0009913[epidermal cell differentiation] GO:0021983[pituitary gland development] GO:0030154[cell differentiation] GO:0043565[sequence-specific DNA binding] GO:0045740[positive regulation of DNA replication] GO:0045880[positive regulation of smoothened signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048546[digestive tract morphogenesis] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1902808[positive regulation of cell cycle G1/S phase transition] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001649[osteoblast differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0008284[positive regulation of cell population proliferation] GO:0008589[regulation of smoothened signaling pathway] GO:0009913[epidermal cell differentiation] GO:0021983[pituitary gland development] GO:0030154[cell differentiation] GO:0030335[positive regulation of cell migration] GO:0043565[sequence-specific DNA binding] GO:0045740[positive regulation of DNA replication] GO:0045880[positive regulation of smoothened signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048546[digestive tract morphogenesis] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1902808[positive regulation of cell cycle G1/S phase transition] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex]
The Human Protein Atlas project is funded
