Identity
HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
CFC3,MAPKK1,MEK1,MEL,MKK1,PRKMK1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5604
MIM: 176872
HGNC: 6840
Ensembl: ENSG00000169032
Variants:
dbSNP: 5604
ClinVar: 5604
TCGA: ENSG00000169032
COSMIC: MAP2K1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169032 | ENST00000307102 | Q02750 |
| ENSG00000169032 | ENST00000307102 | A4QPA9 |
| ENSG00000169032 | ENST00000566326 | H3BRW9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA24928 | ARAF | Gene | Pathway | associated | |||
| PA25408 | BRAF | Gene | Pathway | associated | 28362716 | ||
| PA283 | MAPK8 | Gene | Pathway | associated | 20124951 | ||
| PA30616 | MAPK1 | Gene | Pathway | associated | 20124951, 28362716 | ||
| PA30617 | MAPK10 | Gene | Pathway | associated | 20124951 | ||
| PA30618 | MAPK11 | Gene | Pathway | associated | 20124951 | ||
| PA30619 | MAPK12 | Gene | Pathway | associated | 20124951 | ||
| PA30620 | MAPK13 | Gene | Pathway | associated | 20124951 | ||
| PA30621 | MAPK14 | Gene | Pathway | associated | 20124951 | ||
| PA30622 | MAPK3 | Gene | Pathway | associated | 20124951, 28362716 | ||
| PA30623 | MAPK4 | Gene | Pathway | associated | 20124951 | ||
| PA30624 | MAPK6 | Gene | Pathway | associated | 20124951 | ||
| PA30625 | MAPK7 | Gene | Pathway | associated | 20124951 | ||
| PA30630 | MAPK9 | Gene | Pathway | associated | 20124951 | ||
| PA34183 | RAF1 | Gene | Pathway | associated | 20124951, 28362716 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36442478 | 2023 | High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer. | 4 |
| 37029817 | 2023 | Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients. | 4 |
| 37094858 | 2023 | Modeling Osteoarthritis: MiR-16-5p Attenuates IL-1β Induced Chondrocyte Dysfunction by Targeting MAP2K1 through the MAPK Pathway. | 1 |
| 37357851 | 2023 | Clinical associations of BRAF and MAP2K1 mutations in pediatric Langerhans cell histiocytosis: When 1 + 1 = 3. | 0 |
| 37565534 | 2023 | MAP2K1-mutated melanocytic tumors have reproducible histopathologic features and share similarities with melanocytic tumors with BRAF V600E mutations. | 2 |
| 37579140 | 2023 | Evolutionary history of MEK1 illuminates the nature of deleterious mutations. | 0 |
| 37869794 | 2023 | Activating mutations drive human MEK1 kinase using a gear-shifting mechanism. | 1 |
| 36442478 | 2023 | High-Throughput Functional Evaluation of MAP2K1 Variants in Cancer. | 4 |
| 37029817 | 2023 | Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients. | 4 |
| 37094858 | 2023 | Modeling Osteoarthritis: MiR-16-5p Attenuates IL-1β Induced Chondrocyte Dysfunction by Targeting MAP2K1 through the MAPK Pathway. | 1 |
| 37357851 | 2023 | Clinical associations of BRAF and MAP2K1 mutations in pediatric Langerhans cell histiocytosis: When 1 + 1 = 3. | 0 |
| 37565534 | 2023 | MAP2K1-mutated melanocytic tumors have reproducible histopathologic features and share similarities with melanocytic tumors with BRAF V600E mutations. | 2 |
| 37579140 | 2023 | Evolutionary history of MEK1 illuminates the nature of deleterious mutations. | 0 |
| 37869794 | 2023 | Activating mutations drive human MEK1 kinase using a gear-shifting mechanism. | 1 |
| 34595543 | 2022 | Clinical study of MAP2K1-mutated Langerhans cell histiocytosis in children. | 2 |
Citation
Dessen P
MAP2K1 (mitogen-activated protein kinase kinase 1)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/41270/map2k1
