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The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
MAP3K7 (Mitogen-Activated Protein Kinase Kinase Kinase 7) is a Protein Coding gene. Diseases associated with MAP3K7 include Cardiospondylocarpofacial Syndrome and Frontometaphyseal Dysplasia 2. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Signal transduction_JNK 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 MAP3K7CL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000287 | magnesium ion binding | IEA | -- |
GO:0004672 | protein kinase activity | IDA | 10094049 |
GO:0004674 | protein serine/threonine kinase activity | TAS | -- |
GO:0004709 | MAP kinase kinase kinase activity | IEA,IDA | 11460167 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005671 | Ada2/Gcn5/Ada3 transcription activator complex | IDA | 18838386 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated TLR4 signalling | ||
2 | Toll-Like receptor Signaling Pathways |
Mucin expression in CF via TLRs, EGFR signaling pathways
.42
Immune response IL-1 signaling pathway
.41
|
|
3 | TNFR1 Pathway |
TNFR1 Pathway
.56
TNF Signaling
.55
|
|
4 | Toll-like Receptor Signaling Pathway |
.37
|
|
5 | IL-17 Family Signaling Pathways |
Mucin expression in CF via IL-6, IL-17 signaling pathways
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | IEA | -- |
GO:0000186 | activation of MAPKK activity | IEA,IDA | 8663074 |
GO:0000187 | activation of MAPK activity | TAS | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0002726 | positive regulation of T cell cytokine production | IMP | 15125833 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - |
ExUns: | 19c |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | MAP3K7 31 |
|
OneToOne | |
LOC102156745 30 |
|
||||
Chimpanzee (Pan troglodytes) |
Mammalia | MAP3K7 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Map3k7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MAP3K7 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | MAP3K7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Map3k7 30 |
|
||
Chicken (Gallus gallus) |
Aves | MAP3K7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MAP3K7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | map3k7 30 |
|
||
Str.3144 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.274 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | map3k7 31 |
|
OneToOne | |
Dr.17131 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12347 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Takl2 31 32 |
|
OneToMany | |
Takl1 31 32 |
|
OneToMany | |||
Tak1 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | mom-4 32 |
|
|
|
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639687 | Uncertain Significance: not provided | 90,571,698(-) | T/G | MISSENSE_VARIANT | |
684731 | Likely Pathogenic: Cardiospondylocarpofacial syndrome | 90,571,800(-) | CCAA/C | INFRAME_DELETION | |
689611 | Uncertain Significance: Cardiospondylocarpofacial syndrome | 90,568,607(-) | C/T | MISSENSE_VARIANT | |
712638 | Benign: not provided | 90,550,552(-) | A/G | INTRON_VARIANT | |
714317 | Benign: not provided | 90,544,640(-) | AAC/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1333350 | CNV | deletion | 17803354 |
esv1987764 | CNV | deletion | 18987734 |
esv2449643 | CNV | deletion | 19546169 |
esv2732413 | CNV | deletion | 23290073 |
esv3540130 | CNV | deletion | 23714750 |
esv3668 | CNV | loss | 18987735 |
esv5848 | CNV | loss | 19470904 |
esv992475 | CNV | deletion | 20482838 |
nsv1073998 | CNV | deletion | 25765185 |
nsv1114854 | CNV | deletion | 24896259 |
nsv523939 | CNV | gain | 19592680 |
nsv956539 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cardiospondylocarpofacial syndrome |
|
|
frontometaphyseal dysplasia 2 |
|
|
frontometaphyseal dysplasia |
|
|
herpes simplex |
|
|
hyperostosis |
|
|