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Immunogen sequence: MAQVAMSTL PVEDEESSES RMVVTFLMSA LESMCKELAK SKAEVACIAV YETDVFVVGT ERGRAFVNTR KDFQKDFVKY CVEEEEKAAE MHKMKSTTQA NRMSVDAVEI ETLRKTVEDY FCFCYGKALG KSTVVPVPYE KMLRDQSAVV VQGLPEGVAF KHPENYDLAT LKWILENKAG ISFIIKRPFL EPKKHVGGRV MVTDADRSIL SPGGSCGPIK VKTEPTEDSG ISLEMAAVTV KEESEDPDYY QYNIQGSHHS SEGNEGTEME VPAEG (1-274 aa encoded by BC004472)
This gene encodes a multifunctional phosphoprotein with roles in transcription and signal transduction. It is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11. 23. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7, 13 and 21.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: BAP-135; Bruton tyrosine kinase-associated protein 135; BTK-associated protein 135; BTK-associated protein, 135kD; General transcription factor II-I; GTFII-I; OTTHUMP00000209509; SPIN; SRF-Phox1-interacting protein; TFII-I; tfiii; Williams-Beuren syndrome chromosomal region 6 protein; Williams-Beuren syndrome chromosome region 6
Gene Aliases: 6030441I21Rik; BAP-135; BAP135; BTKAP1; DIWS; Diws1t; GTF2I; Gtf2ird1; GTFII-I; IB291; SPIN; TFII-I; WBS; WBSCR6
UniProt ID: (Human) P78347, (Rat) Q5U2Y1, (Mouse) Q9ESZ8
Entrez Gene ID: (Human) 2969, (Rat) 353256, (Mouse) 14886
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