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Aliases for MAP2K1 Gene

Aliases for MAP2K1 Gene

  • Mitogen-Activated Protein Kinase Kinase 1 2 3
  • ERK Activator Kinase 1 3 4
  • MAPK/ERK Kinase 1 3 4
  • EC 2.7.12.2 4 63
  • MAPKK 1 3 4
  • PRKMK1 3 4
  • MEK 1 3 4
  • MEK1 3 4
  • MKK1 3 4
  • Protein Kinase, Mitogen-Activated, Kinase 1 (MAP Kinase Kinase 1) 3
  • MAP Kinase Kinase 1 4
  • MAPKK1 3
  • CFC3 3

External Ids for MAP2K1 Gene

Previous HGNC Symbols for MAP2K1 Gene

  • PRKMK1

Previous GeneCards Identifiers for MAP2K1 Gene

  • GC15U990039
  • GC15P059778
  • GC15P064258
  • GC15P064395
  • GC15P064356
  • GC15P064466
  • GC15P066679
  • GC15P043515

Summaries for MAP2K1 Gene

Entrez Gene Summary for MAP2K1 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 point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]

GeneCards Summary for MAP2K1 Gene

MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1) is a Protein Coding gene. Diseases associated with MAP2K1 include map2k1-related cardiofaciocutaneous syndrome and map2k1-related noonan syndrome. Among its related pathways are PI3K-Akt signaling pathway and MAPK signaling pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is MAP2K5.

UniProtKB/Swiss-Prot for MAP2K1 Gene

  • 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 this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis.

Gene Wiki entry for MAP2K1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAP2K1 Gene

Genomics for MAP2K1 Gene

Regulatory Elements for MAP2K1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MAP2K1 Gene

Chromosome:
15
Start:
66,386,817 bp from pter
End:
66,492,312 bp from pter
Size:
105,496 bases
Orientation:
Plus strand

Genomic View for MAP2K1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MAP2K1 Gene

Proteins for MAP2K1 Gene

  • Protein details for MAP2K1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02750-MP2K1_HUMAN
    Recommended name:
    Dual specificity mitogen-activated protein kinase kinase 1
    Protein Accession:
    Q02750

    Protein attributes for MAP2K1 Gene

    Size:
    393 amino acids
    Molecular mass:
    43439 Da
    Quaternary structure:
    • Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3/ERK1 and RGS14 (By similarity). Forms a heterodimer with MAP2K2/MEK2 (By similarity). Forms heterodimers with KSR2 which further dimerize to form tetramers (By similarity). Interacts with ARBB2, LAMTOR3, MAPK1/ERK2, MORG1 and RAF1 (By similarity). Interacts with PPARG and with isoform 1 of VRK2. Interacts with Yersinia yopJ. Interacts with SGK1. Interacts with BIRC6/bruce.

    Three dimensional structures from OCA and Proteopedia for MAP2K1 Gene

    Alternative splice isoforms for MAP2K1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MAP2K1 Gene

Proteomics data for MAP2K1 Gene at MOPED

Post-translational modifications for MAP2K1 Gene

  • Acetylation by Yersinia yopJ prevents phosphorylation and activation, thus blocking the MAPK signaling pathway.
  • Phosphorylation at Ser-218 and Ser-222 by MAP kinase kinase kinases (RAF or MEKK1) positively regulates kinase activity. Also phosphorylated at Thr-292 by MAPK1/ERK2 and at Ser-298 by PAK. MAPK1/ERK2 phosphorylation of Thr-292 occurs in response to cellular adhesion and leads to inhibition of Ser-298 phosphorylation by PAK.
  • Ubiquitination at Lys 353
  • Modification sites at PhosphoSitePlus

Other Protein References for MAP2K1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Protein Products

  • Enzo Life Sciences proteins for MAP2K1

Assay Products

  • Enzo Life Sciences assays for MAP2K1
  • Cloud-Clone Corp Assay Kits for MAP2K1

Domains & Families for MAP2K1 Gene

Graphical View of Domain Structure for InterPro Entry

Q02750

UniProtKB/Swiss-Prot:

MP2K1_HUMAN :
  • The proline-rich region localized between residues 270 and 307 is important for binding to RAF1 and activation of MAP2K1/MEK1.
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
Domain:
  • The proline-rich region localized between residues 270 and 307 is important for binding to RAF1 and activation of MAP2K1/MEK1.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily.
genes like me logo Genes that share domains with MAP2K1: view

Function for MAP2K1 Gene

Molecular function for MAP2K1 Gene

GENATLAS Biochemistry:
mitogen-activated protein kinase kinase 1,nucleocytoplasmic shuttling protein,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot EnzymeRegulation:
Ras proteins such as HRAS mediate the activation of RAF proteins such as RAF1 or BRAF which in turn activate extracellular signal-regulated kinases (ERK) through MAPK (mitogen-activated protein kinases) and ERK kinases MAP2K1/MEK1 and MAP2K2/MEK2. Activation occurs through phosphorylation of Ser-218 and Ser-222. MAP2K1/MEK1 is also the target of negative feed-back regulation by its substrate kinases, such as MAPK1/ERK2. These phosphorylate MAP2K1/MEK1 on Thr-292, thereby facilitating dephosphorylation of the activating residues Ser-218 and Ser-222. Inhibited by serine/threonine phosphatase 2A (By similarity). Many inhibitors have been identified including pyrrole derivatives, TAK-733 (one of a series of 8-methylpyrido[2,3-d]pyrimidine-4,7(3H,8H)-dione derivatives), CH4987655 and RDEA119/BAY 869766.
UniProtKB/Swiss-Prot 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 this initiates RAF1 activation. RAF1 then further activates the dual-specificity protein kinases MAP2K1/MEK1 and MAP2K2/MEK2. Both MAP2K1/MEK1 and MAP2K2/MEK2 function specifically in the MAPK/ERK cascade, and catalyze the concomitant phosphorylation of a threonine and a tyrosine residue in a Thr-Glu-Tyr sequence located in the extracellular signal-regulated kinases MAPK3/ERK1 and MAPK1/ERK2, leading to their activation and further transduction of the signal within the MAPK/ERK cascade. Depending on the cellular context, this pathway mediates diverse biological functions such as cell growth, adhesion, survival and differentiation, predominantly through the regulation of transcription, metabolism and cytoskeletal rearrangements. One target of the MAPK/ERK cascade is peroxisome proliferator-activated receptor gamma (PPARG), a nuclear receptor that promotes differentiation and apoptosis. MAP2K1/MEK1 has been shown to export PPARG from the nucleus. The MAPK/ERK cascade is also involved in the regulation of endosomal dynamics, including lysosome processing and endosome cycling through the perinuclear recycling compartment (PNRC), as well as in the fragmentation of the Golgi apparatus during mitosis.

Enzyme Numbers (IUBMB) for MAP2K1 Gene

Gene Ontology (GO) - Molecular Function for MAP2K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 10570282
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0004708 MAP kinase kinase activity IDA 8388392
GO:0004712 protein serine/threonine/tyrosine kinase activity TAS 19565474
GO:0004713 protein tyrosine kinase activity IEA --
genes like me logo Genes that share ontologies with MAP2K1: view
genes like me logo Genes that share phenotypes with MAP2K1: view

Animal Models for MAP2K1 Gene

MGI Knock Outs for MAP2K1:

Animal Model Products

CRISPR Products

miRNA for MAP2K1 Gene

miRTarBase miRNAs that target MAP2K1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAP2K1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for MAP2K1 Gene

Localization for MAP2K1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAP2K1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, spindle pole body. Cytoplasm. Nucleus. Note=Localizes at centrosomes during prometaphase, midzone during anaphase and midbody during telophase/cytokinesis.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAP2K1 Gene COMPARTMENTS Subcellular localization image for MAP2K1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
mitochondrion 5
nucleus 5
plasma membrane 4
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MAP2K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005634 nucleus TAS 19565474
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion TAS 19565474
GO:0005769 early endosome TAS 19565474
genes like me logo Genes that share ontologies with MAP2K1: view

Pathways & Interactions for MAP2K1 Gene

SuperPathways for MAP2K1 Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 MyD88 cascade initiated on plasma membrane
3 IL-2 Pathway
4 IL-7 Signaling Pathways
5 Translation Insulin regulation of translation
genes like me logo Genes that share pathways with MAP2K1: view

Pathways by source for MAP2K1 Gene

PCR Array Products

SIGNOR curated interactions for MAP2K1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAP2K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0000187 activation of MAPK activity TAS 19565474
GO:0001932 regulation of protein phosphorylation --
GO:0002224 toll-like receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with MAP2K1: view

Drugs & Compounds for MAP2K1 Gene

(120) Drugs for MAP2K1 Gene - From: NovoSeek, HMDB, DGIdb, ApexBio, DrugBank, Tocris, PharmGKB, and FDA Approved Drugs

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Trametinib Approved Pharma inhibitor, Biomarker, Target MEK 1/2 inhibitor, MEK Inhibitors, Kinase Inhibitors, Mitogen-activated protein/extracellular signal-regulated kinase (MEK) inhibitors 103
Mekinist Approved May of 2013 Pharma Inhibition 0
bosutinib Approved Pharma Target, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors, Dual Src-Abl inhibitor; antiproliferative 0
Sorafenib Approved, Investigational Pharma inhibitors, inhibitor Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 653
Bosulif Approved September 2012 Pharma 0

(57) Additional Compounds for MAP2K1 Gene - From: NovoSeek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
U0126
109511-58-2
10Z-Hymenialdisine
82005-12-7
Arctigenin
  • (-)-Arctigenin
  • 4-[(3,4-Dimethoxyphenyl)methyl]dihydro-3-[(4-hydroxy-3-methoxyphenyl)methyl]-(3R,4R)-2(3H)-Furanone
  • 4-[(3,4-Dimethoxyphenyl)methyl]dihydro-3-[(4-hydroxy-3-methoxyphenyl)methyl]-(3R-trans)-2(3H)-Furanone
  • Arctigenin
7770-78-7
1,25 DIHYDROXY VITAMIN D3
genes like me logo Genes that share compounds with MAP2K1: view

Drug Products

Transcripts for MAP2K1 Gene

mRNA/cDNA for MAP2K1 Gene

Unigene Clusters for MAP2K1 Gene

Mitogen-activated protein kinase kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAP2K1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAP2K1 Gene

No ASD Table

Relevant External Links for MAP2K1 Gene

GeneLoc Exon Structure for
MAP2K1
ECgene alternative splicing isoforms for
MAP2K1

Expression for MAP2K1 Gene

mRNA expression in normal human tissues for MAP2K1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MAP2K1 Gene

This gene is overexpressed in Frontal cortex (12.5), Bone marrow mesenchymal stem cell (10.0), and Brain (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAP2K1 Gene



SOURCE GeneReport for Unigene cluster for MAP2K1 Gene Hs.145442

mRNA Expression by UniProt/SwissProt for MAP2K1 Gene

Q02750-MP2K1_HUMAN
Tissue specificity: Widely expressed, with extremely low levels in brain.
genes like me logo Genes that share expression patterns with MAP2K1: view

Protein tissue co-expression partners for MAP2K1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MAP2K1 Gene

Orthologs for MAP2K1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAP2K1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAP2K1 35
  • 94.49 (n)
  • 100 (a)
MAP2K1 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAP2K1 35
  • 94.25 (n)
  • 99.47 (a)
MAP2K1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Map2k1 35
  • 90.67 (n)
  • 98.98 (a)
Map2k1 16
Map2k1 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAP2K1 35
  • 98.64 (n)
  • 98.98 (a)
MAP2K1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Map2k1 35
  • 91.26 (n)
  • 99.24 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia MAP2K1 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MAP2K1 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAP2K1 35
  • 81.51 (n)
  • 95.93 (a)
MAP2K1 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 81 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia map2k1 35
  • 78.12 (n)
  • 92.62 (a)
Str.10686 35
African clawed frog
(Xenopus laevis)
Amphibia mek-2-prov 35
zebrafish
(Danio rerio)
Actinopterygii Dr.25154 35
map2k1 35
  • 76.41 (n)
  • 88.97 (a)
map2k1 36
  • 88 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dsor1 37
  • 66 (a)
Dsor1 35
  • 64.62 (n)
  • 67.88 (a)
Dsor1 36
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001103 35
  • 61.1 (n)
  • 68.46 (a)
worm
(Caenorhabditis elegans)
Secernentea mek-2 37
  • 52 (a)
mek-2 35
  • 52.46 (n)
  • 53.89 (a)
mek-2 36
  • 53 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STE7 38
PBS2 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MEK1 35
  • 51.19 (n)
  • 43.93 (a)
rice
(Oryza sativa)
Liliopsida Os06g0147800 35
  • 49.4 (n)
  • 42.39 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.141 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04612 35
  • 56.14 (n)
  • 51.58 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes byr1 35
  • 49.9 (n)
  • 45.94 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8484 36
  • 65 (a)
OneToMany
Species with no ortholog for MAP2K1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MAP2K1 Gene

ENSEMBL:
Gene Tree for MAP2K1 (if available)
TreeFam:
Gene Tree for MAP2K1 (if available)

Paralogs for MAP2K1 Gene

Paralogs for MAP2K1 Gene

Pseudogenes.org Pseudogenes for MAP2K1 Gene

genes like me logo Genes that share paralogs with MAP2K1: view

Variants for MAP2K1 Gene

Sequence variations from dbSNP and Humsavar for MAP2K1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs745796 -- 66,406,242(+) AATTA(C/T)ATTGC intron-variant
rs749771 -- 66,408,238(-) GGGAA(A/C)TAAGA intron-variant
rs752252 -- 66,433,277(+) AGCTG(C/T)CTCAG intron-variant
rs752253 -- 66,434,027(-) GGCTC(C/T)TGGTA intron-variant
rs752404 -- 66,407,380(+) TCAGG(C/T)TTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAP2K1 Gene

Variant ID Type Subtype PubMed ID
nsv833045 CNV Gain 17160897
esv2749791 CNV Deletion 23290073
esv2749792 CNV Deletion 23290073
dgv455e199 CNV Deletion 23128226

Variation tolerance for MAP2K1 Gene

Residual Variation Intolerance Score: 24.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAP2K1 Gene

HapMap Linkage Disequilibrium report
MAP2K1
Human Gene Mutation Database (HGMD)
MAP2K1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP2K1 Gene

Disorders for MAP2K1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for MAP2K1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
map2k1-related cardiofaciocutaneous syndrome
  • map2k1-related cardio-facio-cutaneous syndrome
map2k1-related noonan syndrome
cardiofaciocutaneous syndrome 3
  • cfc3
cardiofaciocutaneous syndrome
  • cfc syndrome
costello syndrome
  • congenital myopathy with excess of muscle spindles
- elite association

UniProtKB/Swiss-Prot

MP2K1_HUMAN
  • Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures. {ECO:0000269 PubMed:16439621, ECO:0000269 PubMed:18042262}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MAP2K1

Genetic Association Database (GAD)
MAP2K1
Human Genome Epidemiology (HuGE) Navigator
MAP2K1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAP2K1
genes like me logo Genes that share disorders with MAP2K1: view

No data available for Genatlas for MAP2K1 Gene

Publications for MAP2K1 Gene

  1. Cloning and characterization of two distinct human extracellular signal-regulated kinase activator kinases, MEK1 and MEK2. (PMID: 8388392) Zheng C.-F. … Guan K.-L. (J. Biol. Chem. 1993) 2 23 67
  2. RNAi-mediated MEK1 knock-down prevents ERK1/2 activation and abolishes human hepatocarcinoma growth in vitro and in vivo. (PMID: 19816936) Gailhouste L. … Baffet G. (Int. J. Cancer 2010) 23 67
  3. Fibroblast growth factor-2 induces osteogenic differentiation through a Runx2 activation in vascular smooth muscle cells. (PMID: 19903460) Nakahara T. … Kurabayashi M. (Biochem. Biophys. Res. Commun. 2010) 23 67
  4. Activation and induction of cytosolic phospholipase A2 by IL-1beta in human tracheal smooth muscle cells: role of MAPKs/p300 and NF-kappaB. (PMID: 20069553) Lee C.W. … Yang C.M. (J. Cell. Biochem. 2010) 23 67
  5. MEK1 and MEK2 isoforms regulate distinct functions in pancreatic cancer cells. (PMID: 20514469) Zhou L. … Dai X. (Oncol. Rep. 2010) 23 67

Products for MAP2K1 Gene

Sources for MAP2K1 Gene

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