Homo sapiens L. (human) [HSA]

FULL NAME: General transcription factor II-I repeat domain-containing protein 1


DESCRIPTION:
May be a transcription regulator involved in cell-cycle progression and skeletal muscle differentiation. May repress GTF2I transcriptional functions, by preventing its nuclear residency, or by inhibiting its transcriptional activation. May contribute to slow-twitch fiber type specificity during myogenesis and in regenerating muscles. Binds troponin I slow-muscle fiber enhancer (USE B1). Binds specifically and with high affinity to the EFG sequences derived from the early enhancer of HOXC8 (By similarity).

MISCELLANEOUS:
GTF2IRD1 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 GTF2IRD1 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.


STRUCTURE SIMILARITY:
Belongs to the TFII-I family. Contains 5 GTF2I-like repeats.


SUBUNIT STRUCTURE:
Interacts with the retinoblastoma protein (RB1) via its C-terminus. The N-terminal half of protein may have an activating activity.


POST-TRANSLATIONAL MODIFICATION:
Phosphorylated upon DNA damage, probably by ATM or ATR.


RELATED PATHWAY(S):
transcription factors


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


Amino acids sequence

        10         20         30         40         50         60
MALLGKRCDV PTNGCGPDRW NSAFTRKDEI ITSLVSALDS MCSALSKLNA EVACVAVHDE
        70         80         90        100        110        120
SAFVVGTEKG RMFLNARKEL QSDFLRFCLS AAQHRAATSQ LEGRVVRRVL TVASRALCPT
       130        140        150        160        170        180
GGPPWKDPEA EHPKKVQRGE GGGRSLPRSS LEHGSDVYLL RKMVEEVFDV LYSEALGRAS
       190        200        210        220        230        240
VVPLPYERLL REPGLLAVQG LPEGLAFRRP AEYDPKALMA ILEHSHRIRF KLKRPLEDGG
       250        260        270        280        290        300
RDSKALVELN GVSLIPKGSR DCGLHGQAPK VPPQDLPPTA TSSSMASFLY STALPNHAIR
       310        320        330        340        350        360
ELKQEAPSCP LAPSDLGLSR PMPEPKATGA QDFSDCCGQK PTGPGGPLIQ NVHASKRILF
       370        380        390        400        410        420
SIVHDKSEKW DAFIKETEDI NTLRECVQIL FNSRYAEALG LDHMVPVPYR KIACDPEAVE
       430        440        450        460        470        480
IVGIPDKIPF KRPCTYGVPK LKRILEERHS IHFIIKRMFD ERIFTGNKFT KDTTKLEPAS
       490        500        510        520        530        540
PPEDTSAEVS RATVLDLAGN ARSDKGSMSE DCGPGTSGEL GGLRPIKIEP EDLDIIQVTV
       550        560        570        580        590        600
PDPSPTSEEM TDSMPGHLPS EDSGYGMEML TDKGLSEDAR PEERPVEDSH GDVIRPLRKQ
       610        620        630        640        650        660
VELLFNTRYA KAIGISEPVK VPYSKFLMHP EELFVVGLPE GISLRRPNCF GIAKLRKILE
       670        680        690        700        710        720
ASNSIQFVIK RPELLTEGVK EPIMDSQERD SGDPLVDESL KRQGFQENYD ARLSRIDIAN
       730        740        750        760        770        780
TLREQVQDLF NKKYGEALGI KYPVQVPYKR IKSNPGSVII EGLPPGIPFR KPCTFGSQNL
       790        800        810        820        830        840
ERILAVADKI KFTVTRPFQG LIPKPDEDDA NRLGEKVILR EQVKELFNEK YGEALGLNRP
       850        860        870        880        890        900
VLVPYKLIRD SPDAVEVTGL PDDIPFRNPN TYDIHRLEKI LKAREHVRMV IINQLQPFAE
       910        920        930        940        950        960
ICNDAKVPAK DSSIPKRKRK RVSEGNSVSS SSSSSSSSSS NPDSVASANQ ISLVQWPMYM
       970
VDYAGLNVQL PGPLNY    

Encoded by GTF2IRD1 gene

FULL NAME: GTF2I repeat domain containing 1


OTHER NAME(S):
BEN
CREAM1
GTF3
MUSTRD1
RBAP2
WBS
WBSCR11
WBSCR12
hMusTRD1alpha1


DESCRIPTION:
The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]


Nucleic acid sequence

        10         20         30         40         50         60
atggccttgc tgggtaagcg ctgtgacgtc cccaccaacg gctgcggacc cgaccgctgg
        70         80         90        100        110        120
aactccgcgt tcacccgcaa agacgagatc atcaccagcc tcgtgtctgc cttagactcc
       130        140        150        160        170        180
atgtgctcag cgctgtccaa actgaacgcc gaggtggcct gtgtcgccgt gcacgatgag
       190        200        210        220        230        240
agcgcctttg tggtgggcac agagaagggg agaatgttcc tgaatgcccg gaaggagcta
       250        260        270        280        290        300
cagtcagact tcctcaggtt ctgcctctcc gcagctcagc acagggcagc gacatcccag
       310        320        330        340        350        360
ctcgaaggcc gggtggtgag acgggtgctc actgtggcct cgcgtgctct gtgtcccaca
       370        380        390        400        410        420
ggagggcccc cgtggaagga tccggaggca gagcacccca agaaggtgca gcggggcgag
       430        440        450        460        470        480
ggtggaggcc gtagcctccc tcggtcctcc ctggaacatg gctcagatgt gtaccttctg
       490        500        510        520        530        540
cggaagatgg tagaggaggt gtttgatgtt ctttatagcg aggccctggg aagggccagt
       550        560        570        580        590        600
gtggtgccac tgccctatga gaggctgctc agggagccag ggctgctggc cgtgcagggg
       610        620        630        640        650        660
ctgcccgaag gcctggcctt ccgaaggcca gccgagtatg accccaaggc cctcatggcc
       670        680        690        700        710        720
atcctggaac acagccaccg catccgcttc aagctcaaga ggccacttga ggatggcggg
       730        740        750        760        770        780
cgggactcga aggccctggt ggagctgaac ggtgtctccc tgattcccaa ggggtcacgg
       790        800        810        820        830        840
gactgtggcc tgcatggcca ggcccccaag gtgccacccc aggacctgcc cccaaccgcc
       850        860        870        880        890        900
acctcctcct ccatggccag cttcctgtac agcacggcgc tccccaacca cgccatccga
       910        920        930        940        950        960
gagctcaagc aggaagcacc ttcctgcccc cttgccccca gcgacctggg cctgagtcgg
       970        980        990       1000       1010       1020
cccatgccag agcccaaggc caccggtgcc caagacttct ccgactgttg tggacagaag
      1030       1040       1050       1060       1070       1080
cccactgggc ctggtgggcc tctcatccag aacgtccatg cctccaagcg cattctcttc
      1090       1100       1110       1120       1130       1140
tccatcgtcc atgacaagtc agagaagtgg gacgccttca taaaggaaac cgaggacatc
      1150       1160       1170       1180       1190       1200
aacacgctcc gggagtgtgt gcagatcctg tttaacagca gatatgcgga agccctgggc
      1210       1220       1230       1240       1250       1260
ctggaccaca tggtccccgt gccctaccgg aagattgcct gtgacccgga ggctgtggag
      1270       1280       1290       1300       1310       1320
atcgtgggca tcccggacaa gatccccttc aagcgcccct gcacttatgg agtccccaag
      1330       1340       1350       1360       1370       1380
ctgaagcgga tcctggagga gcgccatagt atccacttca tcattaagag gatgtttgat
      1390       1400       1410       1420       1430       1440
gagcgaattt tcacagggaa caagtttacc aaagacacca cgaagctgga gccagccagc
      1450       1460       1470       1480       1490       1500
ccgccagagg acacctctgc agaggtctct agggccaccg tccttgacct tgctgggaat
      1510       1520       1530       1540       1550       1560
gctcggtcag acaagggcag catgtctgaa gactgtgggc caggaacctc cggggagctg
      1570       1580       1590       1600       1610       1620
ggcgggctga ggccgatcaa aattgagcca gaggatctgg acatcattca ggtcaccgtc
      1630       1640       1650       1660       1670       1680
ccagacccct cgccaacctc tgaggaaatg acagactcga tgcctgggca cctgccatcg
      1690       1700       1710       1720       1730       1740
gaggattctg gttatgggat ggagatgctg acagacaaag gtctgagtga ggacgcgcgg
      1750       1760       1770       1780       1790       1800
cccgaggaga ggcccgtgga ggacagccac ggtgacgtga tccggcccct gcggaagcag
      1810       1820       1830       1840       1850       1860
gtggagctgc tcttcaacac acgatacgcc aaggccattg gcatctcgga gcccgtcaag
      1870       1880       1890       1900       1910       1920
gtgccgtact ccaagtttct gatgcacccg gaggagctgt ttgtggtggg actgcctgaa
      1930       1940       1950       1960       1970       1980
ggcatctccc tccgcaggcc caactgcttc gggatcgcca agctccggaa gattctggag
      1990       2000       2010       2020       2030       2040
gccagcaaca gcatccagtt tgtcatcaag aggcccgagc tgctcactga gggagtcaaa
      2050       2060       2070       2080       2090       2100
gagcccatca tggatagtca agagagggat tccggggacc ctctggtgga cgagagcctg
      2110       2120       2130       2140       2150       2160
aagagacagg gctttcaaga aaattatgac gcgaggctct cacggatcga catcgccaac
      2170       2180       2190       2200       2210       2220
acactaaggg agcaggtcca ggaccttttc aataagaaat acggggaagc cttgggcatc
      2230       2240       2250       2260       2270       2280
aagtacccgg tccaggtccc ctacaagcgg atcaagagta accccggctc cgtgatcatc
      2290       2300       2310       2320       2330       2340
gaggggctgc ccccaggaat cccgttccga aagccctgta ccttcggctc ccagaacctg
      2350       2360       2370       2380       2390       2400
gagaggattc ttgctgtggc tgacaagatc aagttcacag tcaccaggcc tttccaagga
      2410       2420       2430       2440       2450       2460
ctcatcccaa agcctgatga agatgacgcc aacagactcg gggagaaggt gatcctgcgg
      2470       2480       2490       2500       2510       2520
gagcaggtga aggaactctt caacgagaaa tacggtgagg ccctgggcct gaaccggccg
      2530       2540       2550       2560       2570       2580
gtgctggtcc cttataaact aatccgggac agcccagacg ccgtggaggt cacgggtctg
      2590       2600       2610       2620       2630       2640
cctgatgaca tccccttccg gaaccccaac acgtacgaca tccaccggct ggagaagatc
      2650       2660       2670       2680       2690       2700
ctgaaggccc gagagcatgt ccgcatggtc atcattaacc agctccaacc ctttgcagaa
      2710       2720       2730       2740       2750       2760
atctgcaatg atgccaaggt gccagccaaa gacagcagca ttcccaagcg caagagaaag
      2770       2780       2790       2800       2810       2820
cgggtctcgg aaggaaattc cgtctcctct tcctcctcgt cttcctcttc ctcgtcctct
      2830       2840       2850       2860       2870       2880
aacccggatt cagtggcatc ggccaaccag atctcactcg tgcaatggcc aatgtacatg
      2890       2900       2910       2920       2930
gtggactatg ccggcctgaa cgtgcagctc ccgggacctc ttaattacta g

Last modification date: Oct. 10, 2011