Homo sapiens L. (human) [HSA]

FULL NAME: General transcription factor II-I


DESCRIPTION:
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.

MISCELLANEOUS:
Ubiquitous. Isoform 1 is strongly expressed in fetal brain, weakly in adult brain, muscle, and lymphoblasts and is almost undetectable in other adult tissues, while the other isoforms are equally expressed in all adult tissues.


STRUCTURE SIMILARITY:
Belongs to the TFII-I family.
Contains 6 GTF2I-like repeats.


SUBUNIT STRUCTURE:
Homodimer (Potential). Interacts with SRF and PHOX1. Binds a pyrimidine-rich initiator (Inr) and a recognition site (E-box) for upstream stimulatory factor 1 (USF1). Associates with the PH domain of Bruton's tyrosine kinase (BTK). May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with BTK and ARID3A.


POST-TRANSLATIONAL MODIFICATION:
Sumoylated.
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.


RELATED PATHWAY(S):
transcription factors


RELATED DISEASE(S):
Williams-Beuren syndrome (WBS)


Amino acids sequence

        10         20         30         40         50         60
MAQVAMSTLP VEDEESSESR MVVTFLMSAL ESMCKELAKS KAEVACIAVY ETDVFVVGTE
        70         80         90        100        110        120
RGRAFVNTRK DFQKDFVKYC VEEEEKAAEM HKMKSTTQAN RMSVDAVEIE TLRKTVEDYF
       130        140        150        160        170        180
CFCYGKALGK STVVPVPYEK MLRDQSAVVV QGLPEGVAFK HPENYDLATL KWILENKAGI
       190        200        210        220        230        240
SFIIKRPFLE PKKHVGGRVM VTDADRSILS PGGSCGPIKV KTEPTEDSGI SLEMAAVTVK
       250        260        270        280        290        300
EESEDPDYYQ YNIQGPSETD DVDEKQPLSK PLQGSHHSSE GNEGTEMEVP AEDDDYSPPS
       310        320        330        340        350        360
KRPKANELPQ PPVPEPANAG KRKVREFNFE KWNARITDLR KQVEELFERK YAQAIKAKGP
       370        380        390        400        410        420
VTIPYPLFQS HVEDLYVEGL PEGIPFRRPS TYGIPRLERI LLAKERIRFV IKKHELLNST
       430        440        450        460        470        480
REDLQLDKPA SGVKEEWYAR ITKLRKMVDQ LFCKKFAEAL GSTEAKAVPY QKFEAHPNDL
       490        500        510        520        530        540
YVEGLPENIP FRSPSWYGIP RLEKIIQVGN RIKFVIKRPE LLTHSTTEVT QPRTNTPVKE
       550        560        570        580        590        600
DWNVRITKLR KQVEEIFNLK FAQALGLTEA VKVPYPVFES NPEFLYVEGL PEGIPFRSPT
       610        620        630        640        650        660
WFGIPRLERI VRGSNKIKFV VKKPELVISY LPPGMASKIN TKALQSPKRP RSPGSNSKVP
       670        680        690        700        710        720
EIEVTVEGPN NNNPQTSAVR TPTQTNGSNV PFKPRGREFS FEAWNAKITD LKQKVENLFN
       730        740        750        760        770        780
EKCGEALGLK QAVKVPFALF ESFPEDFYVE GLPEGVPFRR PSTFGIPRLE KILRNKAKIK
       790        800        810        820        830        840
FIIKKPEMFE TAIKESTSSK SPPRKINSSP NVNTTASGVE DLNIIQVTIP DDDNERLSKV
       850        860        870        880        890        900
EKARQLREQV NDLFSRKFGE AIGMGFPVKV PYRKITINPG CVVVDGMPPG VSFKAPSYLE
       910        920        930        940        950        960
ISSMRRILDS AEFIKFTVIR PFPGLVINNQ LVDQSESEGP VIQESAEPSQ LEVPATEEIK
       970
ETDGSSQIKQ EPDPTW    

Encoded by GTF2I gene

FULL NAME: general transcription factor IIi


OTHER NAME(S):
BAP135
BTKAP1
DIWS
FLJ38776
FLJ56355
GTFII-I
IB291
SPIN
TFII-I
WBS
WBSCR6


DESCRIPTION:
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. [provided by RefSeq, Jul 2009]


Nucleic acid sequence

        10         20         30         40         50         60
atggcccaag ttgcaatgtc caccctcccc gttgaagatg aggagtcctc ggagagcagg
        70         80         90        100        110        120
atggtggtga cattcctcat gtcagctctc gagtccatgt gtaaagaact ggccaagtcc
       130        140        150        160        170        180
aaagccgaag tggcctgcat tgcagtgtat gaaacagacg tgtttgtcgt cggaactgaa
       190        200        210        220        230        240
agaggacgtg cttttgtcaa taccagaaag gattttcaaa aagattttgt aaaatattgt
       250        260        270        280        290        300
gttgaagaag aagaaaaagc tgcagagatg cataaaatga aatctacaac ccaggcaaat
       310        320        330        340        350        360
cggatgagtg tagatgctgt agaaattgaa acactcagaa aaacagttga ggactatttc
       370        380        390        400        410        420
tgcttttgct atgggaaagc tttaggcaaa tccacagtgg tacctgtacc atatgagaag
       430        440        450        460        470        480
atgctgcgag accagtcggc tgtggtagtg caggggcttc cggaaggtgt tgcctttaaa
       490        500        510        520        530        540
caccccgaga actatgatct tgcaaccctg aaatggattt tggagaacaa agcagggatt
       550        560        570        580        590        600
tcattcatca ttaagagacc ttttttagag ccaaagaagc atgtaggtgg tcgtgtgatg
       610        620        630        640        650        660
gtaacagatg ctgacaggtc aatactatct ccaggtggaa gttgtggccc catcaaagtg
       670        680        690        700        710        720
aaaactgaac ccacagaaga ttctggcatt tccctggaaa tggcagctgt gacagtaaag
       730        740        750        760        770        780
gaagaatcag aagatcctga ttattatcaa tataacattc aaggcccttc tgaaactgat
       790        800        810        820        830        840
gatgttgatg aaaaacagcc cctatcgaag cctttgcaag gaagccacca ttcttcagag
       850        860        870        880        890        900
ggcaatgaag gcacagaaat ggaagtacca gcagaagatg atgattattc tccaccgtct
       910        920        930        940        950        960
aagagaccaa aggccaatga gctaccgcag ccaccagtcc cggaacccgc caatgctggg
       970        980        990       1000       1010       1020
aagcggaaag tgagggagtt caacttcgag aaatggaatg ctcgcatcac tgatctacgt
      1030       1040       1050       1060       1070       1080
aaacaagttg aagaattgtt tgaaaggaaa tatgctcaag ccataaaagc caaaggtccg
      1090       1100       1110       1120       1130       1140
gtgacgatcc cgtaccctct tttccagtct catgttgaag atctttatgt agaaggactt
      1150       1160       1170       1180       1190       1200
cctgaaggaa ttccttttag aaggccatct acttacggaa ttcctcgcct ggagaggata
      1210       1220       1230       1240       1250       1260
ttacttgcaa aggaaaggat tcgttttgtg attaagaaac atgagcttct gaattcaaca
      1270       1280       1290       1300       1310       1320
cgtgaagatt tacagcttga taagccagct tcaggagtaa aggaagaatg gtatgccaga
      1330       1340       1350       1360       1370       1380
atcactaaat taagaaagat ggtggatcag cttttctgca aaaaatttgc ggaagccttg
      1390       1400       1410       1420       1430       1440
gggagcactg aagccaaggc tgtaccgtac caaaaatttg aggcacaccc gaatgatctg
      1450       1460       1470       1480       1490       1500
tacgtggaag gactgccaga aaacattcct ttccgaagtc cctcatggta tggaatccca
      1510       1520       1530       1540       1550       1560
aggctggaaa aaatcattca agtgggcaat cgaattaaat ttgttattaa aagaccagaa
      1570       1580       1590       1600       1610       1620
cttctgactc acagtaccac tgaagttact cagccaagaa cgaatacacc agtcaaagaa
      1630       1640       1650       1660       1670       1680
gattggaatg tcagaattac caagctacgg aagcaagtgg aagagatttt taatttgaaa
      1690       1700       1710       1720       1730       1740
tttgctcaag ctcttggact caccgaggca gtaaaagtac catatcctgt gtttgaatca
      1750       1760       1770       1780       1790       1800
aacccggagt tcttgtatgt ggaaggcttg ccagagggga ttcccttccg aagccctacc
      1810       1820       1830       1840       1850       1860
tggtttggaa ttccacgact tgaaaggatc gtccgcggga gtaataaaat caagttcgtt
      1870       1880       1890       1900       1910       1920
gttaaaaaac ctgaactagt tatttcctac ttgcctcctg ggatggctag taaaataaac
      1930       1940       1950       1960       1970       1980
actaaagctt tgcagtcccc caaaagacca cgaagtcctg ggagtaattc aaaggttcct
      1990       2000       2010       2020       2030       2040
gaaattgagg tcaccgtgga aggccctaat aacaacaatc ctcaaacctc agctgttcga
      2050       2060       2070       2080       2090       2100
accccgaccc agactaacgg ttctaacgtt cccttcaagc cacgagggag agagttttcc
      2110       2120       2130       2140       2150       2160
tttgaggcct ggaatgccaa aatcacggac ctaaaacaga aagttgaaaa tctcttcaat
      2170       2180       2190       2200       2210       2220
gagaaatgtg gggaagctct tggccttaaa caagctgtga aggtgccgtt cgcgttattt
      2230       2240       2250       2260       2270       2280
gagtctttcc cggaagactt ttatgtggaa ggcttacctg agggtgtgcc attccgaaga
      2290       2300       2310       2320       2330       2340
ccatcgactt ttggcattcc gaggctggag aagatactca gaaacaaagc caaaattaag
      2350       2360       2370       2380       2390       2400
ttcatcatta aaaagcccga aatgtttgag acggcgatta aggagagcac ctcctctaag
      2410       2420       2430       2440       2450       2460
agccctccca gaaaaataaa ttcatcaccc aatgttaata ctactgcatc aggtgttgaa
      2470       2480       2490       2500       2510       2520
gaccttaaca tcattcaggt gacaattcca gatgatgata atgaaagact ctcgaaagtt
      2530       2540       2550       2560       2570       2580
gaaaaagcta gacagctaag agaacaagtg aatgacctct ttagtcggaa atttggtgaa
      2590       2600       2610       2620       2630       2640
gctattggta tgggttttcc tgtgaaagtt ccctacagga aaatcacaat taaccctggc
      2650       2660       2670       2680       2690       2700
tgtgtggtgg ttgatggcat gcccccgggg gtgtccttca aagcccccag ctacctggaa
      2710       2720       2730       2740       2750       2760
atcagctcca tgagaaggat cttagactct gccgagttta tcaaattcac ggtcattaga
      2770       2780       2790       2800       2810       2820
ccatttccag gacttgtgat taataaccag ctggttgatc agagtgagtc agaaggcccc
      2830       2840       2850       2860       2870       2880
gtgatacaag aatcagctga accaagccag ttggaagttc cagccacaga agaaataaaa
      2890       2900       2910       2920       2930
gagactgatg gaagctctca gatcaagcaa gaaccagacc ccacgtggta g

Last modification date: Oct. 8, 2011