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Aliases for MAP3K1 Gene

Aliases for MAP3K1 Gene

  • Mitogen-Activated Protein Kinase Kinase Kinase 1 2 3
  • Mitogen-Activated Protein Kinase Kinase Kinase 1, E3 Ubiquitin Protein Ligase 2 3 5
  • MAPK/ERK Kinase Kinase 1 3 4
  • MEK Kinase 1 3 4
  • MAPKKK1 3 4
  • MEKK 1 3 4
  • MEKK1 3 4
  • MEKK 3 4
  • MAP/ERK Kinase Kinase 1 3
  • EC 2.7.11.25 4
  • SRXY6 3

External Ids for MAP3K1 Gene

Previous HGNC Symbols for MAP3K1 Gene

  • MEKK1

Previous GeneCards Identifiers for MAP3K1 Gene

  • GC05P056276
  • GC05P057669
  • GC05P056081
  • GC05P056126
  • GC05P056146
  • GC05P053082
  • GC05P056110

Summaries for MAP3K1 Gene

Entrez Gene Summary for MAP3K1 Gene

  • The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]

GeneCards Summary for MAP3K1 Gene

MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) is a Protein Coding gene. Diseases associated with MAP3K1 include 46Xy Sex Reversal 6 and Swyer Syndrome. Among its related pathways are HTLV-I infection and MyD88 cascade initiated on plasma membrane. 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 MAP3K19.

UniProtKB/Swiss-Prot for MAP3K1 Gene

  • Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway.

Gene Wiki entry for MAP3K1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAP3K1 Gene

Genomics for MAP3K1 Gene

Regulatory Elements for MAP3K1 Gene

Enhancers for MAP3K1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAP3K1 on UCSC Golden Path with GeneCards custom track

Promoters for MAP3K1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAP3K1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MAP3K1 Gene

Chromosome:
5
Start:
56,815,073 bp from pter
End:
56,896,152 bp from pter
Size:
81,080 bases
Orientation:
Plus strand

Genomic View for MAP3K1 Gene

Genes around MAP3K1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAP3K1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MAP3K1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAP3K1 Gene

Proteins for MAP3K1 Gene

  • Protein details for MAP3K1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13233-M3K1_HUMAN
    Recommended name:
    Mitogen-activated protein kinase kinase kinase 1
    Protein Accession:
    Q13233

    Protein attributes for MAP3K1 Gene

    Size:
    1512 amino acids
    Molecular mass:
    164470 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Binds both upstream activators and downstream substrates in multimolecular complexes through its N-terminus. Oligomerizes after binding MAP4K2 or TRAF2. Interacts with AXIN1. Interacts (via the kinase catalytic domain) with STK38.

neXtProt entry for MAP3K1 Gene

Proteomics data for MAP3K1 Gene at MOPED

Post-translational modifications for MAP3K1 Gene

Other Protein References for MAP3K1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MEKK1
  • Cloud-Clone Corp. Antibodies for MAP3K1

No data available for DME Specific Peptides for MAP3K1 Gene

Domains & Families for MAP3K1 Gene

Suggested Antigen Peptide Sequences for MAP3K1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13233

UniProtKB/Swiss-Prot:

M3K1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
  • Contains 1 RING-type zinc finger.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 1 SWIM-type zinc finger.
genes like me logo Genes that share domains with MAP3K1: view

Function for MAP3K1 Gene

Molecular function for MAP3K1 Gene

GENATLAS Biochemistry:
mitogen-activated protein (MAP/ERK) kinase kinase kinase 1,stress activated protein kinase,exercizing an antiapoptotic function as activator of C-Jun amino-terminal kinase (JNK) in response to changes in the microtubule cytoskeleton and extra signal-regulated protein kinase (ERK),also involved in apoptosis as caspase-3 substrate and in the induction of apoptosis by genotoxins but not by microtubule altering drugs. Stimulating MADH2 mediated transcriptional activation in endothelial cells
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by autophosphorylation on Thr-1400 and Thr-1412 following oligomerization.
UniProtKB/Swiss-Prot Function:
Component of a protein kinase signal transduction cascade. Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4. Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway.

Enzyme Numbers (IUBMB) for MAP3K1 Gene

Gene Ontology (GO) - Molecular Function for MAP3K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA,TAS --
GO:0004709 MAP kinase kinase kinase activity NAS 9808624
GO:0005488 binding IEA --
genes like me logo Genes that share ontologies with MAP3K1: view
genes like me logo Genes that share phenotypes with MAP3K1: view

Human Phenotype Ontology for MAP3K1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAP3K1 Gene

MGI Knock Outs for MAP3K1:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for MAP3K1 Gene

Localization for MAP3K1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MAP3K1 Gene COMPARTMENTS Subcellular localization image for MAP3K1 gene
Compartment Confidence
cytosol 5
cytoskeleton 3
nucleus 3
extracellular 1
mitochondrion 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for MAP3K1 Gene

Pathways & Interactions for MAP3K1 Gene

SuperPathways for MAP3K1 Gene

genes like me logo Genes that share pathways with MAP3K1: view

SIGNOR curated interactions for MAP3K1 Gene

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

Gene Ontology (GO) - Biological Process for MAP3K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity NAS 9808624
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0006915 apoptotic process IBA --
GO:0031098 stress-activated protein kinase signaling cascade IBA --
GO:0032147 activation of protein kinase activity IBA --
genes like me logo Genes that share ontologies with MAP3K1: view

Drugs & Compounds for MAP3K1 Gene

(33) Drugs for MAP3K1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
Paclitaxel Approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 2655
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1910
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1859
Erlotinib Approved, Investigational Pharma EGFR inhibitor, EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0

(18) Additional Compounds for MAP3K1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with MAP3K1: view

Transcripts for MAP3K1 Gene

Unigene Clusters for MAP3K1 Gene

Mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MAP3K1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b
SP1:
SP2:

Relevant External Links for MAP3K1 Gene

GeneLoc Exon Structure for
MAP3K1
ECgene alternative splicing isoforms for
MAP3K1

Expression for MAP3K1 Gene

mRNA expression in normal human tissues for MAP3K1 Gene

mRNA differential expression in normal tissues according to GTEx for MAP3K1 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for MAP3K1 Gene

This gene is overexpressed in Liver, secretome (27.6), Pancreatic juice (17.1), and Blymphocyte (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MAP3K1 Gene



SOURCE GeneReport for Unigene cluster for MAP3K1 Gene Hs.653654

genes like me logo Genes that share expression patterns with MAP3K1: view

Protein tissue co-expression partners for MAP3K1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MAP3K1 Gene

Orthologs for MAP3K1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MAP3K1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MAP3K1 35
  • 92.25 (n)
  • 93.82 (a)
MAP3K1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAP3K1 35
  • 92.47 (n)
  • 93.89 (a)
MAP3K1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Map3k1 35
  • 85.52 (n)
  • 90.52 (a)
Map3k1 16
Map3k1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAP3K1 35
  • 99.51 (n)
  • 99.34 (a)
MAP3K1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912399 35
  • 86.22 (n)
  • 90.37 (a)
oppossum
(Monodelphis domestica)
Mammalia MAP3K1 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAP3K1 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAP3K1 35
  • 79.32 (n)
  • 83.29 (a)
MAP3K1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAP3K1 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia map3k1 35
  • 73.77 (n)
  • 78.12 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12302 35
zebrafish
(Danio rerio)
Actinopterygii map3k1 35
  • 67.37 (n)
  • 74.27 (a)
map3k1 36
  • 68 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCK1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToOne
Species with no ortholog for MAP3K1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MAP3K1 Gene

ENSEMBL:
Gene Tree for MAP3K1 (if available)
TreeFam:
Gene Tree for MAP3K1 (if available)

Paralogs for MAP3K1 Gene

Paralogs for MAP3K1 Gene

(11) SIMAP similar genes for MAP3K1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MAP3K1: view

Variants for MAP3K1 Gene

Sequence variations from dbSNP and Humsavar for MAP3K1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_040680 -
VAR_040681 -
rs702689 - 56,881,616(+) CCATT(A/G)ATAAT reference, missense
rs832582 - 56,881,916(+) GCACA(A/G)TCCAT reference, missense
VAR_065504 46,XY sex reversal 6 (SRXY6)

Structural Variations from Database of Genomic Variants (DGV) for MAP3K1 Gene

Variant ID Type Subtype PubMed ID
nsv830308 CNV Gain 17160897
esv23998 CNV Loss 19812545
esv2730198 CNV Deletion 23290073
esv2730199 CNV Deletion 23290073
esv2375620 CNV Deletion 18987734
nsv329292 CNV Loss 16902084
esv1000409 CNV Deletion 20482838
esv1751401 CNV Deletion 17803354
nsv329673 CNV Loss 16902084

Variation tolerance for MAP3K1 Gene

Residual Variation Intolerance Score: 6.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.61; 96.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAP3K1 Gene

Human Gene Mutation Database (HGMD)
MAP3K1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAP3K1 Gene

Disorders for MAP3K1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MAP3K1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
46xy sex reversal 6
  • srxy6
swyer syndrome
  • 46,xy sex reversal
46,xy partial gonadal dysgenesis
  • 46,xy pgd
46,xy disorder of sex development and 46,xy complete gonadal dysgenesis
  • xy disorder of sex development and xy complete gonadal dysgenesis
gonadal dysgenesis
  • gonadal dysgenesis syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

M3K1_HUMAN
  • 46,XY sex reversal 6 (SRXY6) [MIM:613762]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. {ECO:0000269 PubMed:21129722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MAP3K1

Genetic Association Database (GAD)
MAP3K1
Human Genome Epidemiology (HuGE) Navigator
MAP3K1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAP3K1
genes like me logo Genes that share disorders with MAP3K1: view

No data available for Genatlas for MAP3K1 Gene

Publications for MAP3K1 Gene

  1. Mapping of the MEK kinase gene (Mekk) to mouse chromosome 13 and human chromosome 5. (PMID: 8597633) Vinik B.S. … Fiedorek F.T. Jr. (Mamm. Genome 1995) 2 3 4 67
  2. Depleting MEKK1 expression inhibits the ability of invasion and migration of human pancreatic cancer cells. (PMID: 19513748) Su F. … Chen X. (J. Cancer Res. Clin. Oncol. 2009) 3 23
  3. The MAPK kinase kinase-1 is essential for stress-induced pancreatic islet cell death. (PMID: 18308848) Mokhtari D. … Welsh N. (Endocrinology 2008) 3 23
  4. MAPK kinase kinase-1 is essential for cytokine-induced c-Jun NH2-terminal kinase and nuclear factor-kappaB activation in human pancreatic islet cells. (PMID: 18420486) Mokhtari D. … Welsh N. (Diabetes 2008) 3 23
  5. Activation of TORC1 transcriptional coactivator through MEKK1-induced phosphorylation. (PMID: 18784253) Siu Y.T. … Jin D.Y. (Mol. Biol. Cell 2008) 3 23

Products for MAP3K1 Gene

Sources for MAP3K1 Gene

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