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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with language delay and seizures Pathogenic rs1249016772, rs760187500, rs759037691, rs1319513413 RCV002260889
RCV002260890
RCV002260891
RCV002260892
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 9713998
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27588399, 30863182
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASDB_DG 20801718
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASCAT_DG 20801718
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 20801718 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis CTD_human_DG 11796754
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1 Lateral Sclerosis BEFREE 29067109
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis CTD_human_DG 11796754
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30100742
★☆☆☆☆
Found in Text Mining only