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FIGURE: 1 / 11
Positive Control: A431 cell lysate, Jurkat cell lysate, Hela cell lysate, MCF-7 cell lysate, PC-12 cell lysate, rat kidney tissue, human tonsil tissue, human thyroid tissue, human colon carcinoma tissue, human skin tissue, human spleen tissue, human breast carcinoma tissue, human stomach carcinoma tissue, human small intestine tissue, human pancreas tissue.
Subcellular Location: Nucleus, Cytoplasm.
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, 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: BAP135; BTKAP1; DIWS; GTF2I; Gtf2ird1; GTFII-I; IB291; SPIN; TFII-I; WBS; WBSCR6
UniProt ID: (Human) P78347, (Rat) Q5U2Y1
Entrez Gene ID: (Human) 2969, (Rat) 353256
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