MAPK1 Chromosome 22
Mitogen-activated protein kinase 1
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What This Gene Does
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 proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
Mitogen-activated protein kinases
Locus Type
gene with protein product
Location
22q11.22
Ensembl
ENSG00000100030
Associated Conditions (11)
Noonan syndrome 13
6 conditions
MAPK1-related disorder
Inborn genetic diseases
Heart
malformation of
Abnormal facial shape
Specific learning disability
Atypical behavior
Intellectual disability
Macrocephaly
Key Variants
RS375334289
Conflicting classifications of pathogenicity
Noonan syndrome 13, Noonan syndrome 13
Health Risk
RS2068678455
Likely pathogenic
6 conditions, 6 conditions
Health Risk
RS2145705605
Likely pathogenic
MAPK1-related disorder, MAPK1-related disorder
Health Risk
RS2148633882
Likely pathogenic
Noonan syndrome 13, Noonan syndrome 13
Health Risk
RS797044892
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2068716907
Pathogenic
Noonan syndrome 13, Heart, malformation of
Health Risk
RS2069052012
Pathogenic
Macrocephaly, Abnormal facial shape, Specific learning disability
Health Risk
RS2069154005
Pathogenic
6 conditions, Noonan syndrome 13, 6 conditions
Health Risk
RS2069154121
Pathogenic
6 conditions, Noonan syndrome 13, 6 conditions
Health Risk
RS1057519911
Pathogenic/Likely pathogenic
6 conditions, Noonan syndrome 13, 6 conditions
Health Risk
RS2068716940
Pathogenic/Likely pathogenic
Heart, malformation of, Abnormal facial shape
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS375334289 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 13, Noonan syndrome 13 |
| RS2068678455 | Health Risk | Likely pathogenic | 6 conditions, 6 conditions |
| RS2145705605 | Health Risk | Likely pathogenic | MAPK1-related disorder, MAPK1-related disorder |
| RS2148633882 | Health Risk | Likely pathogenic | Noonan syndrome 13, Noonan syndrome 13 |
| RS797044892 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2068716907 | Health Risk | Pathogenic | Noonan syndrome 13, Heart, malformation of |
| RS2069052012 | Health Risk | Pathogenic | Macrocephaly, Abnormal facial shape, Specific learning disability |
| RS2069154005 | Health Risk | Pathogenic | 6 conditions, Noonan syndrome 13, 6 conditions |
| RS2069154121 | Health Risk | Pathogenic | 6 conditions, Noonan syndrome 13, 6 conditions |
| RS1057519911 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Noonan syndrome 13, 6 conditions |
| RS2068716940 | Health Risk | Pathogenic/Likely pathogenic | Heart, malformation of, Abnormal facial shape |