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Aliases for MAP3K1 Gene

Aliases for MAP3K1 Gene

  • Mitogen-Activated Protein Kinase Kinase Kinase 1 2 3 5
  • MEKK1 2 3 4
  • MAPK/ERK Kinase Kinase 1 3 4
  • MEK Kinase 1 3 4
  • MAPKKK1 3 4
  • MEKK 1 3 4
  • MEKK 3 4
  • Mitogen-Activated Protein Kinase Kinase Kinase 1, E3 Ubiquitin Protein Ligase 3
  • MAP/ERK Kinase Kinase 1 3
  • EC 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 46,Xy Sex Reversal 6 and 46 Xy Gonadal Dysgenesis. Among its related pathways are Development EGFR signaling via small GTPases and Immune response IFN gamma signaling pathway. Gene Ontology (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 MAP3K5.

UniProtKB/Swiss-Prot for MAP3K1 Gene

  • Component of a protein kinase signal transduction cascade (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (PubMed:9808624).

Gene Wiki entry for MAP3K1 Gene

Additional gene information for MAP3K1 Gene

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

Genomics for MAP3K1 Gene

GeneHancer (GH) Regulatory Elements for MAP3K1 Gene

Promoters and enhancers for MAP3K1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I056814 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.7 1686 6.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 MAP3K1 SETD9 ENSG00000271828 MIER3 C5orf67 GC05P056845 GC05P056846
GH05I056813 Enhancer 0.8 ENCODE dbSUPER 550.8 -1.6 -1594 0.2 JUNB DPF2 BATF IRF4 IKZF1 RUNX3 IKZF2 SPI1 MAP3K1 LOC105378979
GH05I056411 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.4 -400.6 -400620 5 HDGF HDAC1 PKNOX1 ATF1 BATF IRF4 TCF12 ZNF207 ETV6 ATF7 MAP3K1 LINC01948 HMGN1P17
GH05I056668 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 17 -144.8 -144790 3.5 PKNOX1 SMAD1 NEUROD1 BMI1 IRF4 ATF7 ETV6 RCOR1 BCLAF1 IKZF2 C5orf67 MAP3K1 LINC01948 RNU6ATAC2P LOC105378978 ENSG00000228650
GH05I056672 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 17 -142.0 -141972 1.4 MAP3K1 LINC01948 C5orf67 ENSG00000228650
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MAP3K1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAP3K1 gene promoter:

Genomic Locations for MAP3K1 Gene

Genomic Locations for MAP3K1 Gene
81,080 bases
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:
    Recommended name:
    Mitogen-activated protein kinase kinase kinase 1
    Protein Accession:

    Protein attributes for MAP3K1 Gene

    1512 amino acids
    Molecular mass:
    164470 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Binds both upstream activators and downstream substrates in multimolecular complexes through its N-terminus (PubMed:9808624). Oligomerizes after binding MAP2K4 or TRAF2 (PubMed:9808624). Interacts with AXIN1 (PubMed:12223491, PubMed:15262978). Interacts (via the kinase catalytic domain) with STK38 (PubMed:17906693). Interacts with GRIPAP1 (PubMed:17761173).

neXtProt entry for MAP3K1 Gene

Post-translational modifications for MAP3K1 Gene

Other Protein References for MAP3K1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MAP3K1 Gene

Domains & Families for MAP3K1 Gene

Gene Families for MAP3K1 Gene

Suggested Antigen Peptide Sequences for MAP3K1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
  • Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily.
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 (PubMed:9808624). Activates the ERK and JNK kinase pathways by phosphorylation of MAP2K1 and MAP2K4 (PubMed:9808624). May phosphorylate the MAPK8/JNK1 kinase (PubMed:17761173). Activates CHUK and IKBKB, the central protein kinases of the NF-kappa-B pathway (PubMed:9808624).

Enzyme Numbers (IUBMB) for MAP3K1 Gene

Phenotypes From GWAS Catalog for MAP3K1 Gene

Gene Ontology (GO) - Molecular Function for MAP3K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity TAS --
GO:0004674 protein serine/threonine kinase activity IBA,EXP --
GO:0004709 MAP kinase kinase kinase activity NAS 9808624
GO:0005515 protein binding IPI 9808624
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:

Clone Products

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

Localization for MAP3K1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MAP3K1 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MAP3K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MAP3K1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MAP3K1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0000186 activation of MAPKK activity IEA --
GO:0002755 MyD88-dependent toll-like receptor signaling pathway TAS --
GO:0006468 protein phosphorylation NAS 9808624
GO:0007346 regulation of mitotic cell cycle IBA --
genes like me logo Genes that share ontologies with MAP3K1: view

Drugs & Compounds for MAP3K1 Gene

(36) 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, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3027
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 2141
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2040
Erlotinib Approved, Investigational Pharma EGFR tyrosine kinase inhibitor, EGFR inhibitor, EGFR Inhibitors, Kinase Inhibitors, Epidermal growth factor receptor (EGFR) inhibitors 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 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

mRNA/cDNA for MAP3K1 Gene

Unigene Clusters for MAP3K1 Gene

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

Clone Products

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

Relevant External Links for MAP3K1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MAP3K1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MAP3K1 Gene

Protein tissue co-expression partners for MAP3K1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MAP3K1 Gene:


SOURCE GeneReport for Unigene cluster for MAP3K1 Gene:


Evidence on tissue expression from TISSUES for MAP3K1 Gene

  • Blood(4.3)
  • Intestine(2)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAP3K1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Head and neck:
  • brain
  • head
  • pituitary gland
  • breast
  • clavicle
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • hair
  • skin
genes like me logo Genes that share expression patterns with MAP3K1: view

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
(Pan troglodytes)
Mammalia MAP3K1 33 34
  • 99.51 (n)
(Canis familiaris)
Mammalia MAP3K1 33 34
  • 92.47 (n)
(Bos Taurus)
Mammalia MAP3K1 33 34
  • 92.25 (n)
(Ornithorhynchus anatinus)
Mammalia MAP3K1 34
  • 87 (a)
(Rattus norvegicus)
Mammalia LOC100912399 33
  • 86.22 (n)
(Monodelphis domestica)
Mammalia MAP3K1 34
  • 86 (a)
(Mus musculus)
Mammalia Map3k1 33 16 34
  • 85.52 (n)
(Gallus gallus)
Aves MAP3K1 33 34
  • 79.32 (n)
(Anolis carolinensis)
Reptilia MAP3K1 34
  • 85 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia map3k1 33
  • 73.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12302 33
(Danio rerio)
Actinopterygii map3k1 33 34
  • 67.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCK1 34
  • 19 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
Species where no ortholog for MAP3K1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for MAP3K1 (if available)
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 Variation AA Info Type
rs143853590 pathogenic, 46,XY sex reversal, type 6, 46,XY sex reversal 6 (SRXY6) [MIM:613762] 56,875,191(+) G/A/C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs185050655 benign, 46,XY sex reversal, type 6 56,815,654(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, synonymous_variant, upstream_transcript_variant
rs2229882 benign, 46,XY sex reversal, type 6 56,872,885(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs387906788 pathogenic, 46,XY sex reversal, type 6, 46,XY sex reversal 6 (SRXY6) [MIM:613762], 46,XY sex reversal 6 (SRXY6) [MIM:613762] 56,856,683(+) T/A/C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs45556841 benign, 46,XY sex reversal, type 6 56,882,016(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv9788n54 CNV gain 21841781
dgv9789n54 CNV gain 21841781
dgv9790n54 CNV gain 21841781
dgv9791n54 CNV gain+loss 21841781
dgv9792n54 CNV loss 21841781
esv1000409 CNV deletion 20482838
esv1751401 CNV deletion 17803354
esv2375620 CNV deletion 18987734
esv23998 CNV loss 19812545
esv2730198 CNV deletion 23290073
esv2730199 CNV deletion 23290073
nsv1125411 OTHER inversion 24896259
nsv1145060 CNV deletion 24896259
nsv329292 CNV deletion 16902084
nsv329673 CNV deletion 16902084
nsv598187 CNV loss 21841781
nsv598190 CNV gain+loss 21841781
nsv598205 CNV gain 21841781
nsv598208 CNV gain 21841781
nsv598210 CNV loss 21841781
nsv830308 CNV gain 17160897

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)

Additional Variant Information for MAP3K1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MAP3K1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAP3K1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

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


  • 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.

Additional Disease Information for MAP3K1

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

No data available for Genatlas for MAP3K1 Gene

Publications for MAP3K1 Gene

  1. JNKK1 organizes a MAP kinase module through specific and sequential interactions with upstream and downstream components mediated by its amino-terminal extension. (PMID: 9808624) Xia Y … Karin M (Genes & development 1998) 3 4 22 58
  2. Mapping of the MEK kinase gene (Mekk) to mouse chromosome 13 and human chromosome 5. (PMID: 8597633) Vinik BS … Fiedorek FT (Mammalian genome : official journal of the International Mammalian Genome Society 1995) 2 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. (PMID: 21129722) Pearlman A … Ostrer H (American journal of human genetics 2010) 3 4 58
  5. Breast cancer susceptibility variants alter risks in familial disease. (PMID: 19617217) Latif A … Newman WG (Journal of medical genetics 2010) 3 44 58

Products for MAP3K1 Gene

Sources for MAP3K1 Gene

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