Gene Gene information from NCBI Gene database.
Entrez ID 7074
Gene name TIAM Rac1 associated GEF 1
Gene symbol TIAM1
Synonyms (NCBI Gene)
NEDLDSTIAM-1
Chromosome 21
Chromosome location 21q22.11
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 effect
miRNA miRNA information provided by mirtarbase database.
118
miRTarBase ID miRNA Experiments Reference
MIRT005565 hsa-miR-21-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20826792
MIRT005565 hsa-miR-21-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20826792
MIRT005565 hsa-miR-21-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20826792
MIRT005566 hsa-miR-31-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20826792
MIRT005566 hsa-miR-31-5p Luciferase reporter assayMicroarrayNorthern blotqRT-PCR 20826792
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity EXP 15721239
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IDA 23109420
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IMP 20361982, 25684205
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600687 11805 ENSG00000156299
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13009
Protein name Rho guanine nucleotide exchange factor TIAM1 (T-lymphoma invasion and metastasis-inducing protein 1) (TIAM-1)
Protein function Guanyl-nucleotide exchange factor that activates RHO-like proteins and connects extracellular signals to cytoskeletal activities. Activates RAC1, CDC42, and to a lesser extent RHOA and their downstream signaling to regulate processes like cell a
PDB 2D8I , 3KZD , 3KZE , 4GVC , 4GVD , 4K2O , 4K2P , 4NXP , 4NXQ , 4NXR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 440 547 PH domain Domain
PF18385 Tiam_CC_Ex 572 669 T-lymphoma invasion and metastasis CC-Ex domain Domain
PF02196 RBD 766 839 Raf-like Ras-binding domain Domain
PF00595 PDZ 845 925 PDZ domain Domain
PF00621 RhoGEF 1044 1232 RhoGEF domain Domain
PF00169 PH 1263 1395 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Found in virtually all analyzed tumor cell lines including B- and T-lymphomas, neuroblastomas, melanomas and carcinomas.
Sequence
MGNAESQHVEHEFYGEKHASLGRKHTSRSLRLSHKTRRTRHASSGKVIHRNSEVSTRSSS
TPSIPQSLAENGLEPFSQDGTLEDFGSPIWVDRVDMGLRPVSYTDSSVTPSVDSSIVLTA
ASVQSMPDTEESRLYGDDATYLAEGGRRQHSYTSNGPTFMETASFKKKRSKSADIWREDS
LEFSLSDLSQEHLTSNEEILGSAEEKDCEEARGMETRASPRQLSTCQRANSLGDLYAQKN
SGVTANGGPGSKFAGYCRNLVSDIPNLANHKMPPAAAEETPPYSNYNTLPCRKSHCLSEG
ATNPQISHSNSMQGRRAKTTQDVNAGEGSEFADSGIEGATTDTDLLSRRSNATNSSYSPT
TGRAFVGSDSGSSSTGDAARQGVYENFRRELEMSTTNSESLEEAGSAHSDEQSSGTLSSP
GQSDILLTAAQGTVRKAGALAVKNFLVHKKNKKVESATRRKWKHYWVSLKGCTLFFYESD
GRSGIDHNSIPKHAVWVENSIVQAVPEHPKKDFVFCLSNSLGDAFLFQTTSQTELENWIT
AIHSACA
TAVARHHHKEDTLRLLKSEIKKLEQKIDMDEKMKKMGEMQLSSVTDSKKKKTI
LDQIFVWEQNLEQFQMDLFRFRCYLASLQGGELPNPKRLLAFASRPTKVAMGRLGIFSVS
SFHALVAAR
TGETGVRRRTQAMSRSASKRRSRFSSLWGLDTTSKKKQGRPSINQVFGEGT
EAVKKSLEGIFDDIVPDGKREKEVVLPNVHQHNPDCDIWVHEYFTPSWFCLPNNQPALTV
VRPGDTARDTLELICKTHQLDHSAHYLRLKFLIENKMQLYVPQPEEDIYELLYKEIEIC
P
KVTQSIHIEKSDTAADTYGFSLSSVEEDGIRRLYVNSVKETGLASKKGLKAGDEILEINN
RAADALNSSMLKDFLSQPSLGLLVR
TYPELEEGVELLESPPHRVDGPADLGESPLAFLTS
NPGHSLCSEQGSSAETAPEETEGPDLESSDETDHSSKSTEQVAAFCRSLHEMNPSDQSPS
PQDSTGPQLATMRQLSDADKLRKVICELLETERTYVKDLNCLMERYLKPLQKETFLTQDE
LDVLFGNLTEMVEFQVEFLKTLEDGVRLVPDLEKLEKVDQFKKVLFSLGGSFLYYADRFK
LYSAFCASHTKVPKVLVKAKTDTAFKAFLDAQNPKQQHSSTLESYLIKPIQRILKYPLLL
RELFALTDAESEEHYHLDVAIKTMNKVASHIN
EMQKIHEEFGAVFDQLIAEQTGEKKEVA
DLSMGDLLLHTTVIWLNPPASLGKWKKEPELAAFVFKTAVVLVYKDGSKQKKKLVGSHRL
SIYEDWDPFRFRHMIPTEALQVRALASADAEANAVCEIVHVKSESEGRPERVFHLCCSSP
ESRKDFLKAVHSILR
DKHRRQLLKTESLPSSQQYVPFGGKRLCALKGARPAMSRAVSAPS
KSLGRRRRRLARNRFTIDSDAVSASSPEKESQQPPGGGDTDRWVEEQFDLAQYEEQDDIK
ETDILSDDDEFCESVKGASVDRDLQERLQATSISQRERGRKTLDSHASRMAQLKKQAALS
GINGGLESASEEVIWVRREDFAPSRKLNTEI
Sequence length 1591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Tight junction
Regulation of actin cytoskeleton
Proteoglycans in cancer
  NRAGE signals death through JNK
Rho GTPase cycle
EPHB-mediated forward signaling
EPH-ephrin mediated repulsion of cells
G alpha (12/13) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with language delay and seizures Pathogenic rs1249016772, rs760187500, rs759037691, rs1319513413 RCV002260889
RCV002260890
RCV002260891
RCV002260892
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign rs144719094 RCV005938803
Gastric cancer Uncertain significance rs777513192 RCV005939259
Thyroid cancer, nonmedullary, 1 Likely benign rs146229915 RCV005937040
TIAM1-related disorder Uncertain significance; Likely benign; Benign rs2085338785, rs146951286, rs2516979493, rs757091901, rs113219144, rs146369813, rs146645440, rs75483199, rs141775592, rs146784461, rs143304426, rs2070410, rs192535474, rs77092908, rs762194
View all (31 more)
RCV003966313
RCV004754985
RCV003399985
RCV003397735
RCV003919239
RCV003894777
RCV003906989
RCV003919864
RCV003921874
RCV003923899
RCV003923956
RCV003974363
RCV003897331
RCV003906908
RCV003967370
RCV003912086
RCV003977255
RCV003984468
RCV003909756
RCV003933846
RCV003942065
RCV003961521
RCV003959704
RCV003954904
RCV003917077
RCV003941637
RCV003931425
RCV003924304
RCV003937080
RCV003939417
RCV003934685
RCV003959034
RCV003947248
RCV003922080
RCV003924200
RCV003924216
RCV003926944
RCV003927008
RCV003979199
RCV003971670
RCV003971459
RCV003967028
RCV003976686
RCV003969074
RCV003972157
RCV003978171
RCV003915950
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 24661909
Adenocarcinoma of Lung Associate 24661909, 37748077
Amyotrophic Lateral Sclerosis Associate 20801718
Breast Neoplasms Associate 11328805, 20444703, 20819206, 35773411
Breast Neoplasms Stimulate 27562113
Carcinoma Associate 22302986
Carcinoma Ductal Breast Associate 27562113
Carcinoma Hepatocellular Associate 24551096, 25739101, 37047360
Carcinoma Intraductal Noninfiltrating Stimulate 27562113
Carcinoma Non Small Cell Lung Associate 37748077