Human Gene GTF2I (uc003uau.3)
  Description: Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.
RefSeq Summary (NM_032999): This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013].
Transcript (Including UTRs)
   Position: hg19 chr7:74,072,030-74,175,022 Size: 102,993 Total Exon Count: 35 Strand: +
Coding Region
   Position: hg19 chr7:74,103,463-74,173,168 Size: 69,706 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:74,072,030-74,175,022)mRNA (may differ from genome)Protein (998 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSCGAPEnsemblEntrez GeneExonPrimer
GeneCardsH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MGIneXtProtOMIMPubMedTreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: GTF2I_HUMAN
DESCRIPTION: RecName: Full=General transcription factor II-I; Short=GTFII-I; Short=TFII-I; AltName: Full=Bruton tyrosine kinase-associated protein 135; Short=BAP-135; Short=BTK-associated protein 135; AltName: Full=SRF-Phox1-interacting protein; Short=SPIN; AltName: Full=Williams-Beuren syndrome chromosomal region 6 protein;
FUNCTION: 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.
SUBUNIT: 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. Interacts with isoform beta of PRKG1.
INTERACTION: P38398:BRCA1; NbExp=5; IntAct=EBI-359622, EBI-349905; Q06187:BTK; NbExp=5; IntAct=EBI-359622, EBI-624835;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Colocalizes with BTK in the cytoplasm.
TISSUE SPECIFICITY: 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.
PTM: 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.
PTM: Sumoylated.
DISEASE: Note=GTF2I 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 GTF2I may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
SIMILARITY: Belongs to the TFII-I family.
SIMILARITY: Contains 6 GTF2I-like repeats.

-  MalaCards Disease Associations
  MalaCards Gene Search: GTF2I
Diseases sorted by gene-association score: williams-beuren syndrome* (54), supravalvar aortic stenosis (19), chromosomal deletion syndrome (19), separation anxiety disorder (6), chromosomal disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -189.11370-0.511 Picture PostScript Text
3' UTR -324.531162-0.279 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004212 - GTF2I
IPR016659 - TF_II-I

Pfam Domains:
PF02946 - GTF2I-like repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2D9B - NMR MuPIT 2DN4 - NMR MuPIT 2ED2 - NMR MuPIT 2EJE - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P78347
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0051019 mitogen-activated protein kinase binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0014886 transition between slow and fast fiber
GO:0016525 negative regulation of angiogenesis
GO:0051481 negative regulation of cytosolic calcium ion concentration

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016020 membrane
GO:0042995 cell projection
GO:0043025 neuronal cell body


-  Descriptions from all associated GenBank mRNAs
  AK292832 - Homo sapiens cDNA FLJ77440 complete cds, highly similar to Homo sapiens general transcription factor II, i (GTF2I), transcript variant 2, mRNA.
JD340131 - Sequence 321155 from Patent EP1572962.
AF015553 - Homo sapiens TFII-I protein (TFII-I) mRNA, complete cds.
JD178397 - Sequence 159421 from Patent EP1572962.
JD471510 - Sequence 452534 from Patent EP1572962.
JD178520 - Sequence 159544 from Patent EP1572962.
JD077969 - Sequence 58993 from Patent EP1572962.
JD220096 - Sequence 201120 from Patent EP1572962.
BC070484 - Homo sapiens general transcription factor II, i, mRNA (cDNA clone MGC:71186 IMAGE:5815493), complete cds.
JD072112 - Sequence 53136 from Patent EP1572962.
BC099907 - Homo sapiens general transcription factor II, i, mRNA (cDNA clone MGC:104586 IMAGE:5263270), complete cds.
AK294935 - Homo sapiens cDNA FLJ55916 complete cds, highly similar to General transcription factor II-I.
AF035737 - Homo sapiens general transcription factor 2-I (GTF2I) mRNA, complete cds.
AF038967 - Homo sapiens general transcription factor 2-I (GTF2I) mRNA, alternatively spliced product, complete cds.
AF038968 - Homo sapiens general transcription factor 2-I (GTF2I) mRNA, alternatively spliced product, complete cds.
AF038969 - Homo sapiens general transcription factor 2-I (GTF2I) mRNA, alternatively spliced product, complete cds.
JD271320 - Sequence 252344 from Patent EP1572962.
JD142502 - Sequence 123526 from Patent EP1572962.
JD405359 - Sequence 386383 from Patent EP1572962.
JD325323 - Sequence 306347 from Patent EP1572962.
BC004472 - Homo sapiens general transcription factor II, i, mRNA (cDNA clone IMAGE:3928557), complete cds.
U77948 - Human Bruton's tyrosine kinase-associated protein-135 mRNA, complete cds.
KJ904473 - Synthetic construct Homo sapiens clone ccsbBroadEn_13867 GTF2I gene, encodes complete protein.
AB385190 - Synthetic construct DNA, clone: pF1KB9055, Homo sapiens GTF2I gene for general transcription factor II-I, complete cds, without stop codon, in Flexi system.
BT007450 - Homo sapiens general transcription factor II, i mRNA, complete cds.
KY884638 - Homo sapiens GTF2I-BRAF fusion protein (GTF2I/BRAF fusion) mRNA, complete cds.
KJ534859 - Homo sapiens clone GTF2I_iso-D_adult-A01 general transcription factor IIi isoform D (GTF2I) mRNA, partial cds, alternatively spliced.
KJ534860 - Homo sapiens clone GTF2I_iso-A_adult-A06 general transcription factor IIi isoform A (GTF2I) mRNA, partial cds, alternatively spliced.
KJ534861 - Homo sapiens clone GTF2I_iso-B_fetal-F05 general transcription factor IIi isoform B (GTF2I) mRNA, partial cds, alternatively spliced.
KJ534862 - Homo sapiens clone GTF2I_iso-A_fetal-F09 general transcription factor IIi isoform A (GTF2I) mRNA, partial cds, alternatively spliced.
KJ534863 - Homo sapiens clone GTF2I_iso-C_fetal-F12 general transcription factor IIi isoform C (GTF2I) mRNA, partial cds, alternatively spliced.
KJ534965 - Homo sapiens clone GTF2I_iso-E_fetal-F02 general transcription factor IIi isoform E (GTF2I) mRNA, partial cds, alternatively spliced.
Y14946 - Homo sapiens mRNA for SPIN protein.
AK297238 - Homo sapiens cDNA FLJ56355 complete cds, highly similar to General transcription factor II-I.
DQ592163 - Homo sapiens piRNA piR-59275, complete sequence.
AK098799 - Homo sapiens cDNA FLJ25933 fis, clone JTH01746, highly similar to General transcription factor II, i, isoform 4.
AK095645 - Homo sapiens cDNA FLJ38326 fis, clone FCBBF3024935.
AK093663 - Homo sapiens cDNA FLJ36344 fis, clone THYMU2006813.
AK057670 - Homo sapiens cDNA FLJ33108 fis, clone TRACH2000974, weakly similar to Transcription factor TFII-I.
DQ786291 - Homo sapiens clone HLS_IMAGE_548957 mRNA sequence.
AK096095 - Homo sapiens cDNA FLJ38776 fis, clone KIDNE2018493.
AK057750 - Homo sapiens cDNA FLJ25021 fis, clone CBL01740.
JD467653 - Sequence 448677 from Patent EP1572962.
JD160040 - Sequence 141064 from Patent EP1572962.
JD520922 - Sequence 501946 from Patent EP1572962.
JD130109 - Sequence 111133 from Patent EP1572962.
JD410470 - Sequence 391494 from Patent EP1572962.
JD304443 - Sequence 285467 from Patent EP1572962.
JD557642 - Sequence 538666 from Patent EP1572962.
JD485670 - Sequence 466694 from Patent EP1572962.
DQ786322 - Homo sapiens clone HLS_IMAGE_840763 mRNA sequence.
JD052910 - Sequence 33934 from Patent EP1572962.
MH721921 - Homo sapiens GTF2I_1 (GTF2I) mRNA, complete sequence.
MH721912 - Homo sapiens GTF2IP1_1 (GTF2IP1) mRNA, complete sequence.
MH721913 - Homo sapiens GTF2IP1_2 (GTF2IP1) mRNA, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03022 - Basal transcription factors

-  Other Names for This Gene
  Alternate Gene Symbols: BAP135, GTF2I_HUMAN, NM_032999, NP_127492, O14743, O15359, O43546, O43588, O43589, P78347, Q75M85, Q75M86, Q75M87, Q75M88, Q9BSZ4, WBSCR6
UCSC ID: uc003uau.3
RefSeq Accession: NM_032999
Protein: P78347 (aka GTF2I_HUMAN or GTFI_HUMAN)
CCDS: CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032999.2
exon count: 35CDS single in 3' UTR: no RNA size: 4529
ORF size: 2997CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6182.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.