Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5604
Gene name Gene Name - the full gene name approved by the HGNC.
Mitogen-activated protein kinase kinase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAP2K1
Synonyms (NCBI Gene) Gene synonyms aliases
CFC3, MAPKK1, MEK1, MEL, MKK1, PRKMK1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 poin
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121908594 T>C Pathogenic Missense variant, genic upstream transcript variant, coding sequence variant
rs121908595 A>G Pathogenic Missense variant, genic upstream transcript variant, coding sequence variant
rs121908596 G>A,T Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic Missense variant, genic upstream transcript variant, coding sequence variant
rs397516789 C>T Likely-pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
rs397516790 A>C,G Likely-pathogenic Coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004483 hsa-miR-34a-5p qRT-PCR, Luciferase reporter assay, Western blot, Northern blot 20299489
MIRT003226 hsa-miR-424-5p Luciferase reporter assay 20065103
MIRT003226 hsa-miR-424-5p Immunohistochemistry, qRT-PCR, Western blot 21179471
MIRT007165 hsa-miR-497-5p Luciferase reporter assay, qRT-PCR, Western blot 23092882
MIRT007165 hsa-miR-497-5p Luciferase reporter assay, qRT-PCR, Western blot 23092882
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IBA
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0003056 Process Regulation of vascular associated smooth muscle contraction IEA
GO:0004672 Function Protein kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176872 6840 ENSG00000169032
Protein
UniProt ID Q02750
Protein name Dual specificity mitogen-activated protein kinase kinase 1 (MAP kinase kinase 1) (MAPKK 1) (MKK1) (EC 2.7.12.2) (ERK activator kinase 1) (MAPK/ERK kinase 1) (MEK 1)
Protein function 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
PDB 1S9J , 2P55 , 3DV3 , 3DY7 , 3E8N , 3EQB , 3EQC , 3EQD , 3EQF , 3EQG , 3EQH , 3EQI , 3MBL , 3ORN , 3OS3 , 3PP1 , 3SLS , 3V01 , 3V04 , 3VVH , 3W8Q , 3WIG , 3ZLS , 3ZLW , 3ZLX , 3ZLY , 3ZM4 , 4AN2 , 4AN3 , 4AN9 , 4ANB , 4ARK , 4LMN , 4MNE , 4U7Z , 4U80 , 4U81 , 5BX0 , 5EYM , 5HZE , 5YT3 , 6NYB , 6PP9 , 6Q0J , 6Q0T , 6U2G , 6V2W , 6X2P , 6X2S , 6X2X , 7B3M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 68 361 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with extremely low levels in brain. {ECO:0000269|PubMed:1281467}.
Sequence
Sequence length 393
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
ErbB signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Oocyte meiosis
Autophagy - animal
Efferocytosis
mTOR signaling pathway
PI3K-Akt signaling pathway
Apoptosis
Cellular senescence
Vascular smooth muscle contraction
VEGF signaling pathway
Apelin signaling pathway
Osteoclast differentiation
Focal adhesion
Gap junction
Signaling pathways regulating pluripotency of stem cells
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Long-term potentiation
Neurotrophin signaling pathway
Cholinergic synapse
Serotonergic synapse
Long-term depression
Regulation of actin cytoskeleton
Insulin signaling pathway
GnRH signaling pathway
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Prolactin signaling pathway
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Relaxin signaling pathway
Parathyroid hormone synthesis, secretion and action
GnRH secretion
Cushing syndrome
Growth hormone synthesis, secretion and action
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Salmonella infection
Yersinia infection
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Endometrial cancer
Glioma
Prostate cancer
Thyroid cancer
Melanoma
Bladder cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Central carbon metabolism in cancer
Choline metabolism in cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
  MAPK3 (ERK1) activation
Frs2-mediated activation
Signal transduction by L1
Uptake and function of anthrax toxins
RAF activation
MAP2K and MAPK activation
Negative feedback regulation of MAPK pathway
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiofaciocutaneous syndrome cardio-facio-cutaneous syndrome rs727504317, rs397516791, rs121908596, rs397516792, rs869025608, rs121908594, rs397516793, rs1595860875, rs397516790, rs121908595 N/A
Cardiofaciocutaneous Syndrome cardiofaciocutaneous syndrome 3 rs121908596, rs1057519732, rs397516792, rs1057519733, rs797044593, rs869025339, rs1057519805, rs121908594, rs397516793, rs121908595, rs876657651, rs727504317, rs727504819 N/A
neoplasm Neoplasm rs121908595, rs1057519729, rs397516790 N/A
Noonan Syndrome noonan syndrome 1, noonan syndrome, Noonan syndrome and Noonan-related syndrome rs121908595, rs1057519732, rs397516791, rs727503996, rs397516792, rs876657651 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Costello Syndrome Costello syndrome N/A N/A GenCC
Insomnia Insomnia N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Renal Carcinoma Renal cell carcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Absent Eyebrows and Eyelashes with Mental Retardation Associate 37697378
Adenocarcinoma Associate 23196793, 24823994, 26317790, 26860843, 28617917
Adenocarcinoma of Lung Associate 25351745, 27151654, 35641658, 36922519
Adenocarcinoma of Lung Inhibit 34526571
Adenoma Stimulate 29565480
Alzheimer Disease Associate 17064357, 38039290, 39396083
Androgen Insensitivity Syndrome Associate 35641658
Antiphospholipid Syndrome Associate 16385547
Arteriovenous Malformations Associate 28190454, 31637524, 32157142, 32703450, 32799314
Astrocytoma Associate 12356354