Map2k1 mitogen-activated protein kinase kinase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Map2k1provided by MGI
Official Full Name: mitogen-activated protein kinase kinase 1provided by MGI
Primary source: MGI:MGI:1346866
See related: Ensembl:ENSMUSG00000004936 AllianceGenome:MGI:1346866
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Mek1; MEKK1; MAPKK1; Prkmk1
Summary: Enables MAP kinase kinase activity. Acts upstream of or within several processes, including ERK1 and ERK2 cascade; animal organ development; and neurogenesis. Predicted to be located in several cellular components, including dendrite cytoplasm; perikaryon; and perinuclear region of cytoplasm. Predicted to colocalize with microtubule. Is expressed in several structures, including alimentary system; early conceptus; genitourinary system; nervous system; and sensory organ. Used to study cardiofaciocutaneous syndrome. Human ortholog(s) of this gene implicated in carcinoma (multiple); cardiofaciocutaneous syndrome 3; high grade glioma; and melorheostosis. Orthologous to human MAP2K1 (mitogen-activated protein kinase kinase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in frontal lobe adult (RPKM 50.3), cortex adult (RPKM 32.1) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 9 C; 9 34.55 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	9	NC_000075.7 (64093066..64160887, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	9	NC_000075.6 (64185769..64253605, complement)

Chromosome 9 - NC_000075.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Arteriovenous malformation Map2k1 mutation affects vasculogenesis.
Title: Arteriovenous malformation Map2k1 mutation affects vasculogenesis.
Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.
Title: Endothelial cell expression of mutant Map2k1 causes vascular malformations in mice.
Fine-tuning of MEK signaling is pivotal for limiting B and T cell activation.
Title: Fine-tuning of MEK signaling is pivotal for limiting B and T cell activation.
Hyperactive MEK1 Signaling in Cortical GABAergic Neurons Promotes Embryonic Parvalbumin Neuron Loss and Defects in Behavioral Inhibition.
Title: Hyperactive MEK1 Signaling in Cortical GABAergic Neurons Promotes Embryonic Parvalbumin Neuron Loss and Defects in Behavioral Inhibition.
Constitutive activation of mitogen-activated protein kinase kinase (MEK1) in ileal enterocytes leads to dysplasia and a predisposition to cancer.
Title: Constitutive activation of mitogen-activated protein kinase kinase (MEK1) in ileal enterocytes leads to dysplasia and a predisposition to cancer.
MEK1 regulates pulmonary macrophage inflammatory responses and resolution of acute lung injury.
Title: MEK1 regulates pulmonary macrophage inflammatory responses and resolution of acute lung injury.
ERK1/2 signaling induces skeletal muscle slow fiber-type switching and reduces muscular dystrophy disease severity.
Title: ERK1/2 signaling induces skeletal muscle slow fiber-type switching and reduces muscular dystrophy disease severity.
he Mek1(Y130C) mutation recapitulates major aspects of cardio-facio-cutaneous syndrome.
Title: Mek1(Y130C) mice recapitulate aspects of human cardio-facio-cutaneous syndrome.
MEK1 does not act as a general tumor suppressor in leukemogenesis. Rather, its effects strongly depend on the genetic context (RAS versus MYC-driven leukemia) and on the cell type involved.
Title: MEK1 is required for the development of NRAS-driven leukemia.
data suggest that, although short-term suppression of Mek1/2 in ES cells helps to maintain an inner cell mass-like epigenetic state, prolonged suppression results in irreversible changes that compromise their developmental potential
Title: Prolonged Mek1/2 suppression impairs the developmental potential of embryonic stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (2) 1 citation
Targeted (8) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

13.MMHAP66FLE1.seq (e-PCR)
- UniSTS:123179

Map2k1 (e-PCR), detects polymorphism
- UniSTS:469813

PMC85452P1 (e-PCR)
- UniSTS:273473

NoName (e-PCR)
- UniSTS:488019

Uchl4 (e-PCR), detects polymorphism
- UniSTS:226149

AI480769 (e-PCR)
- UniSTS:159890

Map2k1 (e-PCR), detects polymorphism
- UniSTS:507041

L02526 (e-PCR)
- UniSTS:124862

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables MAP kinase kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables MAP kinase kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables MAP kinase kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables MAP kinase kinase activity	ISO Inferred from Sequence Orthology more info
enables MAP-kinase scaffold activity	ISO Inferred from Sequence Orthology more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables mitogen-activated protein kinase kinase kinase binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables protein kinase activator activity	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activator activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein serine/threonine/tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed
enables protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info
enables transferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Bergmann glial cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ERBB2-ERBB3 signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within ERK1 and ERK2 cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in Golgi inheritance	ISO Inferred from Sequence Orthology more info
involved_in MAPK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in MAPK cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Schwann cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular senescence	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebellar cortex formation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of endodermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within epithelial cell proliferation involved in lung morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within face development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info	PubMed
involved_in insulin-like growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within labyrinthine layer development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lung morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in melanosome transport	ISO Inferred from Sequence Orthology more info
involved_in myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of homotypic cell-cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in neuron differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within placenta blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of Ras protein signal transduction	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of autophagy	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of axonogenesis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of endodermal cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription elongation by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of ERK1 and ERK2 cascade	ISO Inferred from Sequence Orthology more info
involved_in regulation of Golgi inheritance	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within regulation of axon regeneration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of early endosome to late endosome transport	TAS Traceable Author Statement more info	PubMed
involved_in regulation of neurotransmitter receptor localization to postsynaptic specialization membrane	ISO Inferred from Sequence Orthology more info
involved_in regulation of stress-activated MAPK cascade	TAS Traceable Author Statement more info	PubMed
involved_in regulation of vascular associated smooth muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in response to axon injury	ISO Inferred from Sequence Orthology more info
involved_in response to glucocorticoid	ISO Inferred from Sequence Orthology more info
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within thymus development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within thyroid gland development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within trachea formation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in triglyceride homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_positive_effect type B pancreatic cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle transport along microtubule	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	TAS Traceable Author Statement more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell cortex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info	PubMed
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in dendrite cytoplasm	ISO Inferred from Sequence Orthology more info
located_in early endosome	TAS Traceable Author Statement more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info	PubMed
located_in focal adhesion	TAS Traceable Author Statement more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in late endosome	TAS Traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with microtubule	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	TAS Traceable Author Statement more info	PubMed
located_in nucleus	TAS Traceable Author Statement more info	PubMed
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dual specificity mitogen-activated protein kinase kinase 1

Names: ERK activator kinase 1; MAP kinase kinase 1; MAPK/ERK kinase 1; protein kinase, mitogen activated, kinase 1, p45

NP_001397403.1

EC 2.7.12.2

NP_032953.1

EC 2.7.12.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001410474.1 → NP_001397403.1 dual specificity mitogen-activated protein kinase kinase 1 isoform 2

Status: VALIDATED

Source sequence(s)

AC160118
NM_008927.5 → NP_032953.1 dual specificity mitogen-activated protein kinase kinase 1 isoform 1

See identical proteins and their annotated locations for NP_032953.1

Status: VALIDATED

Source sequence(s)

AC160118

Consensus CDS

CCDS23277.1

UniProtKB/Swiss-Prot

P31938

UniProtKB/TrEMBL

Q3TMJ8, Q3U3F4, Q3UK05, Q9JJE1

Related

ENSMUSP00000005066.9, ENSMUST00000005066.9

Conserved Domains (1) summary

cd06650
Location:62 → 380

PKc_MEK1; Catalytic domain of the dual-specificity Protein Kinase, Mitogen-Activated Protein (MAP)/Extracellular signal-Regulated Kinase (ERK) Kinase 1