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This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 2017]
TIAM1 (TIAM Rac1 Associated GEF 1) is a Protein Coding gene. Diseases associated with TIAM1 include Lymphoma and Colorectal Cancer. Among its related pathways are Signaling by GPCR and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is TIAM2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | EXP | 15721239 |
GO:0005089 | Rho guanyl-nucleotide exchange factor activity | TAS | 10835422 |
GO:0005515 | protein binding | IPI | 17440041 |
GO:0008017 | microtubule binding | IEA | -- |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005874 | microtubule | IEA | -- |
GO:0005886 | plasma membrane | IDA | 23109420 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | p75 NTR receptor-mediated signalling |
.36
|
|
2 | EPH-Ephrin signaling |
Cell adhesion Ephrins signaling
.35
|
|
3 | Signaling by GPCR | ||
4 | Ras signaling pathway | ||
5 | Developmental Biology |
.51
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003300 | cardiac muscle hypertrophy | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007160 | cell-matrix adhesion | IMP | 20361982 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TIAM1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TIAM1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TIAM1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tiam1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tiam1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TIAM1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TIAM1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | TIAM1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TIAM1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tiam1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.25648 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100330358 30 |
|
||
TIAM1 (1 of 3) 31 |
|
OneToMany | |||
tiam1a 31 |
|
OneToMany | |||
TIAM1 (3 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | sif 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
769123 | Benign: not provided | 31,266,490(-) | C/T | SYNONYMOUS_VARIANT | |
777301 | Benign: not provided | 31,266,881(-) | C/T | MISSENSE_VARIANT | |
781507 | Likely Benign: not provided | 31,120,785(-) | G/A | SYNONYMOUS_VARIANT | |
rs1192824496 | A colorectal cancer sample | p.Arg678Cys | |||
rs1319513413 | A colorectal cancer sample | p.Ala1339Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
lymphoma |
|
|
colorectal cancer |
|
|
spastic quadriplegia |
|
|
quadriplegia |
|
|
wolf-hirschhorn syndrome |
|
|