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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 Enzymes FDA approved drug targets Human disease related genes RAS pathway related proteins
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
15
Cytoband
q22.31
Chromosome location (bp)
66386837 - 66491656
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Dual specificity protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Binding of extracellular ligands such as growth factors, cytokines and hormones to their cell-surface receptors activates RAS and this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Activates BRAF in a KSR1 or KSR2-dependent manner; by binding to KSR1 or KSR2 releases the inhibitory intramolecular interaction between KSR1 or KSR2 protein kinase and N-terminal domains which promotes KSR1 or KSR2-BRAF dimerization and BRAF activation 1. Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis....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 bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [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.
Q02750 [Direct mapping] Dual specificity mitogen-activated protein kinase kinase 1
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A4QPA9 [Target identity:100%; Query identity:100%] Mitogen-activated protein kinase kinase 1; Mitogen-activated protein kinase kinase 1, isoform CRA_a; cDNA FLJ76051, highly similar to Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA
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Enzymes ENZYME proteins Transferases Kinases STE Ser/Thr protein kinases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Candidate cancer biomarkers Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
H3BRW9 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KYB4 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KXN4 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5QJC1 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KRX5 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5QJP8 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5QJ96 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
B4DFY5 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1; Mitogen-activated protein kinase kinase 1, isoform CRA_d; cDNA FLJ58770, highly similar to Dual specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KYS7 [Direct mapping] Dual-specificity mitogen-activated protein kinase kinase 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Cancer-related genes Mutated cancer genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Other congenital malformations Musculoskeletal diseases Skeletal diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
