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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.
Cancer-related genes Disease related genes Human disease related genes Plasma proteins 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
21
Cytoband
q22.12
Chromosome location (bp)
34787801 - 36004667
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
RUNX1-201
RUNX1-202
RUNX1-203
RUNX1-204
RUNX1-205
RUNX1-206
RUNX1-207
RUNX1-208
RUNX1-214
RUNX1-218
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000785 [chromatin] GO:0000976 [transcription regulatory region sequence-specific DNA 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:0001503 [ossification] GO:0001959 [regulation of cytokine-mediated signaling pathway] GO:0002062 [chondrocyte differentiation] GO:0003677 [DNA binding] GO:0003700 [DNA-binding transcription factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0010629 [negative regulation of gene expression] GO:0010755 [regulation of plasminogen activation] GO:0016513 [core-binding factor complex] GO:0030097 [hemopoiesis] GO:0030111 [regulation of Wnt signaling pathway] GO:0030182 [neuron differentiation] GO:0030854 [positive regulation of granulocyte differentiation] GO:0032743 [positive regulation of interleukin-2 production] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0033146 [regulation of intracellular estrogen receptor signaling pathway] GO:0043231 [intracellular membrane-bounded organelle] GO:0043371 [negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378 [positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045589 [regulation of regulatory T cell differentiation] GO:0045595 [regulation of cell differentiation] GO:0045616 [regulation of keratinocyte differentiation] GO:0045637 [regulation of myeloid cell differentiation] GO:0045652 [regulation of megakaryocyte differentiation] GO:0045766 [positive regulation of angiogenesis] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0048935 [peripheral nervous system neuron development] GO:0050855 [regulation of B cell receptor signaling pathway] GO:0060043 [regulation of cardiac muscle cell proliferation] GO:0061026 [cardiac muscle tissue regeneration] GO:0071425 [hematopoietic stem cell proliferation] GO:1902036 [regulation of hematopoietic stem cell differentiation] GO:1903055 [positive regulation of extracellular matrix organization] GO:1905203 [regulation of connective tissue replacement] GO:2000810 [regulation of bicellular tight junction assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases 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 regulatory region sequence-specific DNA 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:0001503 [ossification] GO:0001959 [regulation of cytokine-mediated signaling pathway] GO:0002062 [chondrocyte differentiation] GO:0003677 [DNA binding] GO:0003700 [DNA-binding transcription factor activity] GO:0005509 [calcium ion binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0008134 [transcription factor binding] GO:0010629 [negative regulation of gene expression] GO:0010755 [regulation of plasminogen activation] GO:0016513 [core-binding factor complex] GO:0030097 [hemopoiesis] GO:0030099 [myeloid cell differentiation] GO:0030111 [regulation of Wnt signaling pathway] GO:0030182 [neuron differentiation] GO:0030854 [positive regulation of granulocyte differentiation] GO:0032743 [positive regulation of interleukin-2 production] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0033146 [regulation of intracellular estrogen receptor signaling pathway] GO:0042803 [protein homodimerization activity] GO:0043231 [intracellular membrane-bounded organelle] GO:0043371 [negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378 [positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045589 [regulation of regulatory T cell differentiation] GO:0045595 [regulation of cell differentiation] GO:0045616 [regulation of keratinocyte differentiation] GO:0045637 [regulation of myeloid cell differentiation] GO:0045652 [regulation of megakaryocyte differentiation] GO:0045766 [positive regulation of angiogenesis] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0048935 [peripheral nervous system neuron development] GO:0050855 [regulation of B cell receptor signaling pathway] GO:0060043 [regulation of cardiac muscle cell proliferation] GO:0061026 [cardiac muscle tissue regeneration] GO:0071425 [hematopoietic stem cell proliferation] GO:1902036 [regulation of hematopoietic stem cell differentiation] GO:1903055 [positive regulation of extracellular matrix organization] GO:1905203 [regulation of connective tissue replacement] GO:2000810 [regulation of bicellular tight junction assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases 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 regulatory region sequence-specific DNA 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:0001503 [ossification] GO:0001959 [regulation of cytokine-mediated signaling pathway] GO:0002062 [chondrocyte differentiation] GO:0003677 [DNA binding] GO:0003700 [DNA-binding transcription factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0010629 [negative regulation of gene expression] GO:0010755 [regulation of plasminogen activation] GO:0016513 [core-binding factor complex] GO:0030097 [hemopoiesis] GO:0030111 [regulation of Wnt signaling pathway] GO:0030182 [neuron differentiation] GO:0030854 [positive regulation of granulocyte differentiation] GO:0032743 [positive regulation of interleukin-2 production] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0033146 [regulation of intracellular estrogen receptor signaling pathway] GO:0043231 [intracellular membrane-bounded organelle] GO:0043371 [negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378 [positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045589 [regulation of regulatory T cell differentiation] GO:0045595 [regulation of cell differentiation] GO:0045616 [regulation of keratinocyte differentiation] GO:0045637 [regulation of myeloid cell differentiation] GO:0045652 [regulation of megakaryocyte differentiation] GO:0045766 [positive regulation of angiogenesis] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0046982 [protein heterodimerization activity] GO:0048935 [peripheral nervous system neuron development] GO:0050855 [regulation of B cell receptor signaling pathway] GO:0060043 [regulation of cardiac muscle cell proliferation] GO:0061026 [cardiac muscle tissue regeneration] GO:0071425 [hematopoietic stem cell proliferation] GO:1902036 [regulation of hematopoietic stem cell differentiation] GO:1903055 [positive regulation of extracellular matrix organization] GO:1905203 [regulation of connective tissue replacement] GO:2000810 [regulation of bicellular tight junction assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Immunoglobulin fold Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II] GO:0000785 [chromatin] GO:0000976 [transcription regulatory region sequence-specific DNA 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:0001503 [ossification] GO:0001959 [regulation of cytokine-mediated signaling pathway] GO:0002062 [chondrocyte differentiation] GO:0003677 [DNA binding] GO:0003700 [DNA-binding transcription factor activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0010629 [negative regulation of gene expression] GO:0010755 [regulation of plasminogen activation] GO:0016513 [core-binding factor complex] GO:0030097 [hemopoiesis] GO:0030111 [regulation of Wnt signaling pathway] GO:0030182 [neuron differentiation] GO:0030854 [positive regulation of granulocyte differentiation] GO:0032743 [positive regulation of interleukin-2 production] GO:0032967 [positive regulation of collagen biosynthetic process] GO:0033146 [regulation of intracellular estrogen receptor signaling pathway] GO:0043231 [intracellular membrane-bounded organelle] GO:0043371 [negative regulation of CD4-positive, alpha-beta T cell differentiation] GO:0043378 [positive regulation of CD8-positive, alpha-beta T cell differentiation] GO:0045589 [regulation of regulatory T cell differentiation] GO:0045595 [regulation of cell differentiation] GO:0045616 [regulation of keratinocyte differentiation] GO:0045637 [regulation of myeloid cell differentiation] GO:0045652 [regulation of megakaryocyte differentiation] GO:0045766 [positive regulation of angiogenesis] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0048935 [peripheral nervous system neuron development] GO:0050855 [regulation of B cell receptor signaling pathway] GO:0060043 [regulation of cardiac muscle cell proliferation] GO:0061026 [cardiac muscle tissue regeneration] GO:0071425 [hematopoietic stem cell proliferation] GO:1902036 [regulation of hematopoietic stem cell differentiation] GO:1903055 [positive regulation of extracellular matrix organization] GO:1905203 [regulation of connective tissue replacement] GO:2000810 [regulation of bicellular tight junction assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Cardiovascular diseases Hematologic diseases Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
