• Gene id: 2969

Gene Summary

• Gene Symbol: GTF2I   Gene   UCSC   Ensembl
• Aliases: BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
• Gene name: general transcription factor IIi
• Alternate names: general transcription factor II-I, BTK-associated protein, 135kD, Bruton tyrosine kinase-associated protein 135, SRF-Phox1-interacting protein, Williams-Beuren syndrome chromosome region 6,
• Gene location: 7q11.23 (74657664: 74760691)     Exons: 35     NC_000007.14
• Gene summary(Entrez): 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 nei

Protein Summary

• Protein general information: P78347  
  • Name: General transcription factor II I (GTFII I) (TFII I) (Bruton tyrosine kinase associated protein 135) (BAP 135) (BTK associated protein 135) (SRF Phox1 interacting protein) (SPIN) (Williams Beuren syndrome chromosomal region 6 protein)
  • Length: 998  
  • Mass: 112416
  • 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.
• Sequence:

  MAQVAMSTLPVEDEESSESRMVVTFLMSALESMCKELAKSKAEVACIAVYETDVFVVGTERGRAFVNTRKDFQKD
  FVKYCVEEEEKAAEMHKMKSTTQANRMSVDAVEIETLRKTVEDYFCFCYGKALGKSTVVPVPYEKMLRDQSAVVV
  QGLPEGVAFKHPENYDLATLKWILENKAGISFIIKRPFLEPKKHVGGRVMVTDADRSILSPGGSCGPIKVKTEPT
  EDSGISLEMAAVTVKEESEDPDYYQYNIQAGPSETDDVDEKQPLSKPLQGSHHSSEGNEGTEMEVPAEDSTQHVP
  SETSEDPEVEVTIEDDDYSPPSKRPKANELPQPPVPEPANAGKRKVREFNFEKWNARITDLRKQVEELFERKYAQ
  AIKAKGPVTIPYPLFQSHVEDLYVEGLPEGIPFRRPSTYGIPRLERILLAKERIRFVIKKHELLNSTREDLQLDK
  PASGVKEEWYARITKLRKMVDQLFCKKFAEALGSTEAKAVPYQKFEAHPNDLYVEGLPENIPFRSPSWYGIPRLE
  KIIQVGNRIKFVIKRPELLTHSTTEVTQPRTNTPVKEDWNVRITKLRKQVEEIFNLKFAQALGLTEAVKVPYPVF
  ESNPEFLYVEGLPEGIPFRSPTWFGIPRLERIVRGSNKIKFVVKKPELVISYLPPGMASKINTKALQSPKRPRSP
  GSNSKVPEIEVTVEGPNNNNPQTSAVRTPTQTNGSNVPFKPRGREFSFEAWNAKITDLKQKVENLFNEKCGEALG
  LKQAVKVPFALFESFPEDFYVEGLPEGVPFRRPSTFGIPRLEKILRNKAKIKFIIKKPEMFETAIKESTSSKSPP
  RKINSSPNVNTTASGVEDLNIIQVTIPDDDNERLSKVEKARQLREQVNDLFSRKFGEAIGMGFPVKVPYRKITIN
  PGCVVVDGMPPGVSFKAPSYLEISSMRRILDSAEFIKFTVIRPFPGLVINNQLVDQSESEGPVIQESAEPSQLEV
  PATEEIKETDGSSQIKQEPDPTW

• Structural information:
  • Interpro: IPR004212  IPR036647  IPR016659  
  • Prosite: PS51139
  • PDB: 2D9B 2DN4 2ED2 2EJE
  • PDBsum: 2D9B 2DN4 2ED2 2EJE
  • DIP: 24252
  • STRING: ENSP00000460070
• Other Databases: GeneCards:  GTF2I  Malacards:  GTF2I

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051481	negative regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa03022	Basal transcription factors

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq