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TIAM1 TIAM Rac1 associated GEF 1

Gene ID: 7074, updated on 27-Nov-2024
Gene type: protein coding
Also known as: NEDLDS; TIAM-1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.
GeneReviews: Not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.
GeneReviews: Not available
Neurodevelopmental disorder with language delay and seizures
MedGen: C5676998OMIM: 619908GeneReviews: Not available
not available

Genomic context

Location:
21q22.11
Sequence:
Chromosome: 21; NC_000021.9 (31118418..31559087, complement)
Total number of exons:
33

Links

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