TIAM1
entrez
7074
canonical
uniprot
Q13009
canonical
ensembl
ENSG00000156299
resolver
ensp
ENSP00000286827
resolver
ensp
ENSP00000441570
resolver
ensp
ENSP00000490786
resolver
ensp
ENSP00000513591
resolver
ensp
ENSP00000539128
resolver
ensp
ENSP00000539129
resolver
ensp
ENSP00000593766
resolver
ensp
ENSP00000593767
resolver
ensp
ENSP00000593771
resolver
ensp
ENSP00000593772
resolver
enst
ENST00000636887
resolver
enst
ENST00000698169
resolver
genesymbol
TIAM1
resolver
hgnc
HGNC:11805
resolver
uniprot
A0A1B0GW57
resolver
uniprot
A0A8V8TN84
resolver
uniprot
B7ZLR6
resolver
uniprot
F5GZ53
resolver
uniprot
Q17RT7
resolver
uniprot_entry
A0A1B0GW57_HUMAN
resolver
uniprot_entry
A0A8V8TN84_HUMAN
resolver
uniprot_entry
TIAM1_HUMAN
resolver
uniprot_sec
B7ZLR6
resolver
uniprot_sec
F5GZ53
resolver
uniprot_sec
Q17RT7
resolver
amino_acid_sequence
MGNAESQHVEHEFYGEKHASLGRKHTSRSLRLSHKTRRTRHASSGKVIHRNSEVSTRSSSTPSIPQSLAENGLEPFSQDGTLEDFGSPIWVDRVDMGLRPVSYTDSSVTPSVDSSIVLTAASVQSMPDTEESRLYGDDATYLAEGGRRQHSYTSNGPTFMETASFKKKRSKSADIWREDSLEFSLSDLSQEHLTSNEEILGSAEEKDCEEARGMETRASPRQLSTCQRANSLGDLYAQKNSGVTANGGPGSKFAGYCRNLVSDIPNLANHKMPPAAAEETPPYSNYNTLPCRKSHCLSEGATNPQISHSNSMQGRRAKTTQDVNAGEGSEFADSGIEGATTDTDLLSRRSNATNSSYSPTTGRAFVGSDSGSSSTGDAARQGVYENFRRELEMSTTNSESLEEAGSAHSDEQSSGTLSSPGQSDILLTAAQGTVRKAGALAVKNFLVHKKNKKVESATRRKWKHYWVSLKGCTLFFYESDGRSGIDHNSIPKHAVWVENSIVQAVPEHPKKDFVFCLSNSLGDAFLFQTTSQTELENWITAIHSACATAVARHHHKEDTLRLLKSEIKKLEQKIDMDEKMKKMGEMQLSSVTDSKKKKTILDQIFVWEQNLEQFQMDLFRFRCYLASLQGGELPNPKRLLAFASRPTKVAMGRLGIFSVSSFHALVAARTGETGVRRRTQAMSRSASKRRSRFSSLWGLDTTSKKKQGRPSINQVFGEGTEAVKKSLEGIFDDIVPDGKREKEVVLPNVHQHNPDCDIWVHEYFTPSWFCLPNNQPALTVVRPGDTARDTLELICKTHQLDHSAHYLRLKFLIENKMQLYVPQPEEDIYELLYKEIEICPKVTQSIHIEKSDTAADTYGFSLSSVEEDGIRRLYVNSVKETGLASKKGLKAGDEILEINNRAADALNSSMLKDFLSQPSLGLLVRTYPELEEGVELLESPPHRVDGPADLGESPLAFLTSNPGHSLCSEQGSSAETAPEETEGPDLESSDETDHSSKSTEQVAAFCRSLHEMNPSDQSPSPQDSTGPQLATMRQLSDADKLRKVICELLETERTYVKDLNCLMERYLKPLQKETFLTQDELDVLFGNLTEMVEFQVEFLKTLEDGVRLVPDLEKLEKVDQFKKVLFSLGGSFLYYADRFKLYSAFCASHTKVPKVLVKAKTDTAFKAFLDAQNPKQQHSSTLESYLIKPIQRILKYPLLLRELFALTDAESEEHYHLDVAIKTMNKVASHINEMQKIHEEFGAVFDQLIAEQTGEKKEVADLSMGDLLLHTTVIWLNPPASLGKWKKEPELAAFVFKTAVVLVYKDGSKQKKKLVGSHRLSIYEDWDPFRFRHMIPTEALQVRALASADAEANAVCEIVHVKSESEGRPERVFHLCCSSPESRKDFLKAVHSILRDKHRRQLLKTESLPSSQQYVPFGGKRLCALKGARPAMSRAVSAPSKSLGRRRRRLARNRFTIDSDAVSASSPEKESQQPPGGGDTDRWVEEQFDLAQYEEQDDIKETDILSDDDEFCESVKGASVDRDLQERLQATSISQRERGRKTLDSHASRMAQLKKQAALSGINGGLESASEEVIWVRREDFAPSRKLNTEI
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with language delay and seizures (NEDLDS) [MIM:619908]: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, speech delay, and seizures. Additional features may include axial hypotonia, peripheral hypertonia, hypothyroidism, and non-specific dysmorphic features or brain imaging abnormalities. {ECO:0000269|PubMed:35240055}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 adhesion and cell migration. {ECO:0000269|PubMed:20361982, ECO:0000269|PubMed:25684205}.
uniprot
proteins
mass_dalton
177508
uniprot
proteins
mutagenesis
MUTAGEN 879; /note="K->E: Strongly reduces affinity for SDC1."; /evidence="ECO:0000269|PubMed:23395182"; MUTAGEN 912; /note="K->E: Strongly reduces affinity for SDC1."; /evidence="ECO:0000269|PubMed:23395182"; MUTAGEN 1404; /note="K->R: Decreased ubiquitination and increased abundance."; /evidence="ECO:0000269|PubMed:25684205"; MUTAGEN 1420; /note="K->R: Decreased ubiquitination and increased abundance."; /evidence="ECO:0000269|PubMed:25684205
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated. Undergoes 'Lys-48' ubiquitination at Lys-1404 and Lys-1420 by a CUL3(KBTBD6/7) E3 ubiquitin ligase complex composed of CUL3, RBX1, KBTBD6 and KBTBD7. 'Lys-48' ubiquitination at Lys-1404 and Lys-1420 triggers proteasomal degradation (PubMed:25684205). Ubiquitination at Lys-1404 and Lys-1420 by CUL3(KBTBD6/7) also requires the membrane-associated protein GABARAP and may therefore be spatially restricted within the cell (PubMed:25684205). {ECO:0000269|PubMed:25684205}.
uniprot
proteins
protein_family
TIAM family
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15899863
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20332120
uniprot
proteins
pubmed
20361982
uniprot
proteins
pubmed
20496116
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22100072
uniprot
proteins
pubmed
23395182
uniprot
proteins
pubmed
23832200
uniprot
proteins
pubmed
25684205
uniprot
proteins
pubmed
35240055
uniprot
proteins
pubmed
7731688
uniprot
proteins
pubmed
7736788
uniprot
proteins
pubmed
7753201
uniprot
proteins
sequence_length
1591
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Detected at the boundary between cells with actin-rich protrusions (By similarity). Presence of KRIT1, CDH5 and RAP1B is required for its localization to the cell junction. {ECO:0000250}.
uniprot
proteins