Gene Gene information from NCBI Gene database.
Entrez ID 5594
Gene name Mitogen-activated protein kinase 1
Gene symbol MAPK1
Synonyms (NCBI Gene)
ERKERK-2ERK2ERT1MAPK2NS13P42MAPKPRKM1PRKM2p38p40p41p41mapkp42-MAPK
Chromosome 22
Chromosome location 22q11.22
Summary This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as p
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs797044892 C>G Pathogenic Missense variant, coding sequence variant
rs1057519911 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2128
miRTarBase ID miRNA Experiments Reference
MIRT003983 hsa-miR-199a-3p Western blot 18456660
MIRT003983 hsa-miR-199a-3p Luciferase reporter assay 18456660
MIRT006418 hsa-miR-28-5p Luciferase reporter assay 20445018
MIRT006447 hsa-miR-335-5p ImmunofluorescenceImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22382496
MIRT006447 hsa-miR-335-5p ImmunofluorescenceImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22382496
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
MYC Unknown 21933022
SPI1 Repression 22075620
TWIST1 Activation 23222305
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
145
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 15850461, 24854121
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176948 6871 ENSG00000100030
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28482
Protein name Mitogen-activated protein kinase 1 (MAP kinase 1) (MAPK 1) (EC 2.7.11.24) (ERT1) (Extracellular signal-regulated kinase 2) (ERK-2) (MAP kinase isoform p42) (p42-MAPK) (Mitogen-activated protein kinase 2) (MAP kinase 2) (MAPK 2)
Protein function Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling casc
PDB 1PME , 1TVO , 1WZY , 2OJG , 2OJI , 2OJJ , 2Y9Q , 3D42 , 3D44 , 3I5Z , 3I60 , 3SA0 , 3TEI , 3W55 , 4FMQ , 4FUX , 4FUY , 4FV0 , 4FV1 , 4FV2 , 4FV3 , 4FV4 , 4FV5 , 4FV6 , 4FV7 , 4FV8 , 4FV9 , 4G6N , 4G6O , 4H3P , 4H3Q , 4IZ5 , 4IZ7 , 4IZA , 4N0S , 4NIF , 4O6E , 4QP1 , 4QP2 , 4QP3 , 4QP4 , 4QP6 , 4QP7 , 4QP8 , 4QP9 , 4QPA , 4QTA , 4QTE , 4XJ0 , 4ZXT , 4ZZM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 25 313 Protein kinase domain Domain
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
Platinum drug 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
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
TGF-beta signaling pathway
Axon guidance
VEGF signaling pathway
Apelin signaling pathway
Osteoclast differentiation
Focal adhesion
Adherens junction
Gap junction
Signaling pathways regulating pluripotency of stem cells
Platelet activation
Neutrophil extracellular trap formation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
IL-17 signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
TNF signaling pathway
Circadian entrainment
Long-term potentiation
Neurotrophin signaling pathway
Retrograde endocannabinoid signaling
Glutamatergic synapse
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
Type II diabetes mellitus
AGE-RAGE signaling pathway in diabetic complications
Cushing syndrome
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Alzheimer disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Alcoholism
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Pertussis
Yersinia infection
Leishmaniasis
Chagas disease
Toxoplasmosis
Tuberculosis
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
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
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
Lipid and atherosclerosis
  phospho-PLA2 pathway
RAF-independent MAPK1/3 activation
MAPK1 (ERK2) activation
Spry regulation of FGF signaling
Golgi Cisternae Pericentriolar Stack Reorganization
Frs2-mediated activation
ERK/MAPK targets
ERKs are inactivated
Regulation of actin dynamics for phagocytic cup formation
Oxidative Stress Induced Senescence
Senescence-Associated Secretory Phenotype (SASP)
Oncogene Induced Senescence
FCERI mediated MAPK activation
Regulation of HSF1-mediated heat shock response
NCAM signaling for neurite out-growth
Recycling pathway of L1
Signal transduction by L1
Activation of the AP-1 family of transcription factors
Thrombin signalling through proteinase activated receptors (PARs)
Negative regulation of FGFR1 signaling
Negative regulation of FGFR2 signaling
Negative regulation of FGFR3 signaling
Negative regulation of FGFR4 signaling
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate NADPH Oxidases
RAF/MAP kinase cascade
MAP2K and MAPK activation
Negative feedback regulation of MAPK pathway
Negative regulation of MAPK pathway
Neutrophil degranulation
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
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Signal attenuation
Gastrin-CREB signalling pathway via PKC and MAPK
ESR-mediated signaling
Regulation of PTEN gene transcription
Regulation of the apoptosome activity
Estrogen-stimulated signaling through PRKCZ
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Suppression of apoptosis
Signaling downstream of RAS mutants
FCGR3A-mediated phagocytosis
Growth hormone receptor signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Pathogenic; Likely pathogenic rs2068716907, rs2068716940, rs2069052012 RCV001261417
RCV001261416
RCV001261415
Atypical behavior Pathogenic; Likely pathogenic rs2068716907, rs2068716940, rs2069052012 RCV001261417
RCV001261416
RCV001261415
Heart, malformation of Pathogenic; Likely pathogenic rs2068716907, rs2068716940, rs2069052012 RCV001261417
RCV001261416
RCV001261415
Intellectual disability Pathogenic; Likely pathogenic rs2068716907, rs2068716940 RCV001261417
RCV001261416
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neoplasm - rs1057519911 RCV004668947
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 35966064
Acrocephalosyndactylia Stimulate 23404329
Acute Coronary Syndrome Associate 25997853, 34239024
Acute Disease Associate 17351113
Acute Kidney Injury Associate 33436543
Adenoameloblastoma Associate 30643167
Adenocarcinoma Associate 19445727, 21143918, 21390183, 27036313, 27763636, 34684639, 37894790
Adenocarcinoma Stimulate 26986830
Adenocarcinoma of Lung Associate 11891209, 17201164, 24374773, 25351745, 25763322, 26402252, 26556867, 26840709, 26986830, 28451792, 30195659, 30321617, 30475204, 30815935, 30838797
View all (11 more)
Adenoma Inhibit 10323886