GTF2I
entrez
2969
canonical
uniprot
P78347
canonical
ensembl
ENSG00000263001
resolver
ensp
ENSP00000404240
resolver
ensp
ENSP00000460070
resolver
ensp
ENSP00000477837
resolver
ensp
ENSP00000482476
resolver
ensp
ENSP00000484526
resolver
ensp
ENSP00000571325
resolver
genesymbol
GTF2I
resolver
genesymbol_syn
BAP135
resolver
genesymbol_syn
WBSCR6
resolver
hgnc
HGNC:4659
resolver
uniprot
A8K9W7
resolver
uniprot
O14743
resolver
uniprot
O15359
resolver
uniprot
O43546
resolver
uniprot
O43588
resolver
uniprot
O43589
resolver
uniprot
Q499G6
resolver
uniprot
Q75M85
resolver
uniprot
Q75M86
resolver
uniprot
Q75M87
resolver
uniprot
Q75M88
resolver
uniprot
Q86U51
resolver
uniprot
Q9BSZ4
resolver
uniprot
X5D2J9
resolver
uniprot
X5D939
resolver
uniprot
X5DNP5
resolver
uniprot
X5DR09
resolver
uniprot_entry
A8K9W7_HUMAN
resolver
uniprot_entry
GTF2I_HUMAN
resolver
uniprot_entry
Q499G6_HUMAN
resolver
uniprot_entry
X5D2J9_HUMAN
resolver
uniprot_entry
X5D939_HUMAN
resolver
uniprot_entry
X5DNP5_HUMAN
resolver
uniprot_entry
X5DR09_HUMAN
resolver
uniprot_sec
O14743
resolver
uniprot_sec
O15359
resolver
uniprot_sec
O43546
resolver
uniprot_sec
O43588
resolver
uniprot_sec
O43589
resolver
uniprot_sec
Q75M85
resolver
uniprot_sec
Q75M86
resolver
uniprot_sec
Q75M87
resolver
uniprot_sec
Q75M88
resolver
uniprot_sec
Q86U51
resolver
uniprot_sec
Q9BSZ4
resolver
amino_acid_sequence
MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKDFVKYCVEEEEKAAEMHKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVVQGLPEGVAFKHPENYDLATLKWILENKAGISFIIKRPFLEPKKHVGGRVMVTDADRSILSPGGSCGPIKVKTEPTEDSGISLEMAAVTVKEESEDPDYYQYNIQAGPSETDDVDEKQPLSKPLQGSHHSSEGNEGTEMEVPAEDSTQHVPSETSEDPEVEVTIEDDDYSPPSKRPKANELPQPPVPEPANAGKRKVREFNFEKWNARITDLRKQVEELFERKYAQAIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLERILLAKERIRFVIKKHELLNSTREDLQLDKPASGVKEEWYARITKLRKMVDQLFCKKFAEALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLEKIIQVGNRIKFVIKRPELLTHSTTEVTQPRTNTPVKEDWNVRITKLRKQVEEIFNLKFAQALGLTEAVKVPYPVFESNPEFLYVEGLPEGIPFRSPTWFGIPRLERIVRGSNKIKFVVKKPELVISYLPPGMASKINTKALQSPKRPRSPGSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALGLKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPPRKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITINPGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEVPATEEIKETDGSSQIKQEPDPTW
uniprot
proteins
disease_involvement
DISEASE: Note=GTF2I is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
uniprot
proteins
function
FUNCTION: Interacts with the basal transcription machinery by coordinating the formation of a multiprotein complex at the C-FOS promoter, and linking specific signal responsive activator complexes. Promotes the formation of stable high-order complexes of SRF and PHOX1 and interacts cooperatively with PHOX1 to promote serum-inducible transcription of a reporter gene deriven by the C-FOS serum response element (SRE). Acts as a coregulator for USF1 by binding independently two promoter elements, a pyrimidine-rich initiator (Inr) and an upstream E-box. Required for the formation of functional ARID3A DNA-binding complexes and for activation of immunoglobulin heavy-chain transcription upon B-lymphocyte activation. {ECO:0000269|PubMed:10373551, ECO:0000269|PubMed:11373296, ECO:0000269|PubMed:16738337}.
uniprot
proteins
mass_dalton
112416
uniprot
proteins
mutagenesis
MUTAGEN 248; /note="Y->F: Abolishes BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-398 and F-503."; /evidence="ECO:0000269|PubMed:11373296"; MUTAGEN 398; /note="Y->F: Abolishes BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-248 and F-503."; /evidence="ECO:0000269|PubMed:11373296"; MUTAGEN 460; /note="Y->F: No change on BTK-mediated transcriptional activation."; /evidence="ECO:0000269|PubMed:11373296"; MUTAGEN 503; /note="Y->F: Impairs BTK-mediated transcriptional activation. Abolishes BTK-mediated phosphorylation and impairs BTK-mediated transcriptional activation; when associated with F-248 and F-398."; /evidence="ECO:0000269|PubMed:11373296
uniprot
proteins
post_translational_modification
PTM: Transiently phosphorylated on tyrosine residues by BTK in response to B-cell receptor stimulation. Phosphorylation on Tyr-248 and Tyr-398, and perhaps, on Tyr-503 contributes to BTK-mediated transcriptional activation. {ECO:0000269|PubMed:10373551, ECO:0000269|PubMed:11373296, ECO:0000269|PubMed:12082086, ECO:0000269|PubMed:16738337}.; PTM: Sumoylated. {ECO:0000269|PubMed:15561718}.
uniprot
proteins
protein_family
TFII-I family
uniprot
proteins
pubmed
10373551
uniprot
proteins
pubmed
11373296
uniprot
proteins
pubmed
12082086
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15561718
uniprot
proteins
pubmed
16738337
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31900622
uniprot
proteins
pubmed
9012831
uniprot
proteins
pubmed
9334314
uniprot
proteins
pubmed
9384587
uniprot
proteins
pubmed
9466987
uniprot
proteins
sequence_length
998
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10373551}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00484, ECO:0000269|PubMed:10373551}. Note=Colocalizes with BTK in the cytoplasm.
uniprot
proteins