ID G2D1_HUMAN STANDARD; PRT; 959 AA. AC Q9UHL9; O95444; Q9UHK8; Q9UI91; Q8WVC4; DT 15-JUN-2002 (Rel. 41, Created) DT 15-JUN-2002 (Rel. 41, Last sequence update) DT 15-JUN-2002 (Rel. 41, Last annotation update) DE General transcription factor II-I repeat domain-containing protein 1 DE (GTF2I repeat domain containing protein 1) (Muscle TFII-I repeat DE domain-containing protein 1) (General transcription factor III) (Slow- DE muscle-fiber enhancer binding protein) (USE B1 binding protein) DE (MusTRD1/BEN) (Williams-Beuren syndrome chromosome region 11 protein). GN GTF2IRD1 OR MUSTRD1 OR GTF3 OR CREAM1 OR RBAP2 OR WBSCR11 OR WBSCR12. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. (ISOFORM 2). RC TISSUE=Muscle; RX MEDLINE=98449952; PubMed=9774679; RA O'Mahoney J.V., Guven K.L., Lin J., Joya J.E., Robinson C.S., RA Wade R.P., Hardeman E.C.; RT "Identification of a novel slow-muscle-fiber enhancer binding protein, RT MUSTRD1."; RL Mol. Cell. Biol. 18:6641-6652(1998). RN [2] RP SEQUENCE FROM N.A. (ISOFORM 2). RC TISSUE=Colon carcinoma; RX MEDLINE=99216421; PubMed=10198167; RA Osborne L.R., Campbell T., Daradich A., Scherer S.W., Tsui L.-C.; RT "Identification of a putative transcription factor gene (WBSCR11) that RT is commonly deleted in Williams-Beuren syndrome."; RL Genomics 57:279-284(1999). RN [3] RP SEQUENCE FROM N.A. (ISOFORM 1). RC TISSUE=Fetal brain; RX MEDLINE=20037629; PubMed=10573005; RA Tassabehji M., Carette M., Wilmot C., Donnai D., Read A.P., RA Metcalfe K.; RT "A transcription factor involved in skeletal muscle gene expression is RT deleted in patients with Williams syndrome."; RL Eur. J. Hum. Genet. 7:737-747(1999). RN [4] RP SEQUENCE FROM N.A. (ISOFORM 2). RX MEDLINE=20044629; PubMed=10575229; RA Franke Y., Peoples R.J., Francke U.; RT "Identification of GTF2IRD1, a putative transcription factor within RT the Williams-Beuren syndrome deletion at 7q11.23."; RL Cytogenet. Cell Genet. 86:296-304(1999). RN [5] RP SEQUENCE FROM N.A. (ISOFORM 1), INTERACTION WITH RB1, AND MUTAGENESIS. RC TISSUE=Cervical carcinoma, Fetal spleen, and Placenta; RX MEDLINE=20115113; PubMed=10642537; RA Yan X., Zhao X., Qian M., Guo N., Gong X., Zhu X.; RT "Characterization and gene structure of a novel retinoblastoma- RT protein-associated protein similar to the transcription regulator RT TFII-I."; RL Biochem. J. 345:749-757(2000). RN [6] RP SEQUENCE FROM N.A. (ISOFORM 1). RC TISSUE=Uterus; RA Strausberg R.; RL Submitted (DEC-2001) to the EMBL/GenBank/DDBJ databases. RN [7] RP FUNCTION. RX MEDLINE=21332325; PubMed=11438732; RA Tussie-Luna M.I., Bayarsaihan D., Ruddle F.H., Roy A.L.; RT "Repression of TFII-I-dependent transcription by nuclear exclusion."; RL Proc. Natl. Acad. Sci. U.S.A. 98:7789-7794(2001). CC -!- FUNCTION: May be a transcription regulator involved in cell-cycle CC progression and skeletal muscle differentiation. May repress GTF2I CC transcriptional functions, by preventing its nuclear residency, or CC by inhibiting its transcriptional activation. May contribute to CC slow-twitch fiber type specificity during myogenesis and in CC regenerating muscles. Binds troponin I slow-muscle fiber enhancer CC (USE B1). Binds specifically and with high afinity to the EFG CC sequences derived from the early enhancer of HOXC8 (By CC similarity). CC -!- SUBUNIT: Interacts with the retinoblastoma protein (RB1) via its CC C-terminus. CC -!- SUBCELLULAR LOCATION: Nuclear. CC -!- ALTERNATIVE PRODUCTS: 2 isoforms; 1 (shown here) and 2; are CC produced by alternative splicing. CC -!- TISSUE SPECIFICITY: Highly expressed in adult skeletal muscle, CC heart, fibroblast, bone and fetal tissues. Expressed at lower CC levels in all other tissues tested. CC -!- DEVELOPMENTAL STAGE: Highly expressed in developing and CC regenerating muscles, at the time of myofiber diversification. CC -!- DOMAIN: The N-terminal half may have an activating activity. CC -!- DISEASE: Haploinsufficiency of GTF2IRD1 may be the cause of CC certain cardiovascular and musculo-skeletal abnormalities observed CC in Williams-Beuren syndrome (WBS), a rare developmental disorder. CC It is a contiguous gene deletion syndrome involving genes from CC chromosome band 7q11.23. CC -!- SIMILARITY: BELONGS TO THE TFII-I FAMILY. CC -!- SIMILARITY: CONTAINS 5 GTF2I-LIKE REPEATS. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF118270; AAD14687.2; -. DR EMBL; AF104923; AAD27668.1; -. DR EMBL; AF151354; AAF19786.1; -. DR EMBL; AF156489; AAF17358.1; -. DR EMBL; AF089107; AAF21796.1; -. DR EMBL; BC018136; AAH18136.1; -. DR Genew; HGNC:4661; GTF2IRD1. DR MIM; 604318; -. DR MIM; 194050; -. DR InterPro; IPR004212; GTF2I. DR Pfam; PF02946; GTF2I; 5. KW Transcription regulation; Developmental protein; DNA-binding; KW Nuclear protein; Repeat; Alternative splicing; Polymorphism; KW Williams-Beuren syndrome. FT REPEAT 128 203 GTF2I 1. FT REPEAT 351 426 GTF2I 2. FT REPEAT 565 640 GTF2I 3. FT REPEAT 705 780 GTF2I 4. FT REPEAT 802 877 GTF2I 5. FT DOMAIN 898 905 NUCLEAR LOCALIZATION SIGNAL (POTENTIAL). FT DOMAIN 906 930 SER-RICH. FT VARSPLIC 656 670 MISSING (IN ISOFORM 2). FT VARIANT 652 652 M -> V (IN DBSNP:2301895). FT /FTId=VAR_013446. FT MUTAGEN 898 959 MISSING: CYTOPLASMIC LOCALIZATION. FT CONFLICT 111 111 G -> S (IN REF. 1 AND 2). FT CONFLICT 378 378 R -> Q (IN REF. 5). SQ SEQUENCE 959 AA; 106057 MW; 7DA3097879701540 CRC64; MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE SAFVVGTEKG RMFLNARKEL QSDFLRFCRG PPWKDPEAEH PKKVQRGEGG GRSLPRSSLE HGSDVYLLRK MVEEVFDVLY SEALGRASVV PLPYERLLRE PGLLAVQGLP EGLAFRRPAE YDPKALMAIL EHSHRIRFKL KRPLEDGGRD SKALVELNGV SLIPKGSRDC GLHGQAPKVP PQDLPPTATS SSMASFLYST ALPNHAIREL KQEAPSCPLA PSDLGLSRPM PEPKATGAQD FSDCCGQKPT GPGGPLIQNV HASKRILFSI VHDKSEKWDA FIKETEDINT LRECVQILFN SRYAEALGLD HMVPVPYRKI ACDPEAVEIV GIPDKIPFKR PCTYGVPKLK RILEERHSIH FIIKRMFDER IFTGNKFTKD TTKLEPASPP EDTSAEVSRA TVLDLAGNAR SDKGSMSEDC GPGTSGELGG LRPIKIEPED LDIIQVTVPD PSPTSEEMTD SMPGHLPSED SGYGMEMLTD KGLSEDARPE ERPVEDSHGD VIRPLRKQVE LLFNTRYAKA IGISEPVKVP YSKFLMHPEE LFVVGLPEGI SLRRPNCFGI AKLRKILEAS NSIQFVIKRP ELLTEGVKEP IMDSQGTASS LGFSPPALPP ERDSGDPLVD ESLKRQGFQE NYDARLSRID IANTLREQVQ DLFNKKYGEA LGIKYPVQVP YKRIKSNPGS VIIEGLPPGI PFRKPCTFGS QNLERILAVA DKIKFTVTRP FQGLIPKPDE DDANRLGEKV ILREQVKELF NEKYGEALGL NRPVLVPYKL IRDSPDAVEV TGLPDDIPFR NPNTYDIHRL EKILKAREHV RMVIINQLQP FAEICNDAKV PAKDSSIPKR KRKRVSEGNS VSSSSSSSSS SSSNPDSVAS ANQISLVQWP MYMVDYAGLN VQLPGPLNY //