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The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
TAB1 (TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 1) is a Protein Coding gene. Diseases associated with TAB1 include Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant and Frontometaphyseal Dysplasia. Among its related pathways are Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways and Bacterial infections in CF airways. Gene Ontology (GO) annotations related to this gene include kinase activator activity. An important paralog of this gene is ENSG00000285542.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004722 | protein serine/threonine phosphatase activity | IBA | 21873635 |
GO:0004724 | magnesium-dependent protein serine/threonine phosphatase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10094049 |
GO:0008047 | enzyme activator activity | TAS | 8638164 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0010008 | endosome membrane | TAS | -- |
GO:0016607 | nuclear speck | IDA | -- |
GO:0032991 | protein-containing complex | IEA | -- |
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 | Toll-like Receptor Signaling Pathway |
.37
|
|
4 | IL-1 signaling pathway | ||
5 | Bacterial infections in CF airways |
Bacterial infections in CF airways
.78
Immune response Bacterial infections in normal airways
.78
|
Immune response TLR signaling pathways
.46
IL-1 beta-dependent CFTR expression
.43
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000185 | activation of MAPKKK activity | TAS,IEA | -- |
GO:0000187 | activation of MAPK activity | TAS | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0002755 | MyD88-dependent toll-like receptor signaling pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Manganese | Approved | Nutra | Target | 56 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TAB1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TAB1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tab1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tab1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | MAP3K7IP1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TAB1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TAB1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TAB1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TAB1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tab1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398025 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tab1 30 31 |
|
OneToOne | |
Dr.16754 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002953 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | tap-1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715987 | Benign: not provided | 39,416,786(+) | C/T | INTRON_VARIANT | |
777712 | Benign: not provided | 39,426,846(+) | C/T | SYNONYMOUS_VARIANT | |
rs17001096 | - | p.Asp224Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2724254 | CNV | deletion | 23290073 |
esv2724255 | CNV | deletion | 23290073 |
esv3568393 | CNV | loss | 25503493 |
esv3647764 | CNV | loss | 21293372 |
nsv3628 | CNV | insertion | 18451855 |
nsv471200 | CNV | loss | 18288195 |
nsv834198 | CNV | loss | 17160897 |
nsv834199 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant |
|
|
frontometaphyseal dysplasia |
|
|
breast cancer |
|