TIAM1 Chromosome 21
TIAM Rac1 associated GEF 1
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What This Gene Does
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]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs|PDZ domain containing"
Locus Type
gene with protein product
Location
21q22.11
Ensembl
ENSG00000156299
Associated Conditions (1)
Neurodevelopmental disorder with language delay and seizures
Key Variants
RS200252911
Conflicting classifications of pathogenicity
Health Risk
RS1249016772
Pathogenic
Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
Health Risk
RS1319513413
Pathogenic
Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
Health Risk
RS759037691
Pathogenic
Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
Health Risk
RS760187500
Pathogenic
Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200252911 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1249016772 | Health Risk | Pathogenic | Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures |
| RS1319513413 | Health Risk | Pathogenic | Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures |
| RS759037691 | Health Risk | Pathogenic | Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures |
| RS760187500 | Health Risk | Pathogenic | Neurodevelopmental disorder with language delay and seizures, Neurodevelopmental disorder with language delay and seizures |