• Gene id: 9569

Gene Summary

• Gene Symbol: GTF2IRD1   Gene   UCSC   Ensembl
• Aliases: BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1
• Gene name: GTF2I repeat domain containing 1
• Alternate names: general transcription factor II-I repeat domain-containing protein 1, USE B1-binding protein, Williams-Beuren syndrome chromosome region 11, binding factor for early enhancer, general transcription factor 3, general transcription factor III, muscle TFII-I repea,
• Gene location: 7q11.23 (74453905: 74603069)     Exons: 28     NC_000007.14
• Gene summary(Entrez): 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 trans
• OMIM: 604318

Protein Summary

• Protein general information: Q9UHL9  
  • Name: General transcription factor II I repeat domain containing protein 1 (GTF2I repeat domain containing protein 1) (General transcription factor III) (MusTRD1/BEN) (Muscle TFII I repeat domain containing protein 1) (Slow muscle fiber enhancer binding protein
  • Length: 959  
  • Mass: 106057
  • Tissue specificity: Highly expressed in adult skeletal muscle, heart, fibroblast, bone and fetal tissues. Expressed at lower levels in all other tissues tested.
• Sequence:

  MALLGKRCDVPTNGCGPDRWNSAFTRKDEIITSLVSALDSMCSALSKLNAEVACVAVHDESAFVVGTEKGRMFLN
  ARKELQSDFLRFCRGPPWKDPEAEHPKKVQRGEGGGRSLPRSSLEHGSDVYLLRKMVEEVFDVLYSEALGRASVV
  PLPYERLLREPGLLAVQGLPEGLAFRRPAEYDPKALMAILEHSHRIRFKLKRPLEDGGRDSKALVELNGVSLIPK
  GSRDCGLHGQAPKVPPQDLPPTATSSSMASFLYSTALPNHAIRELKQEAPSCPLAPSDLGLSRPMPEPKATGAQD
  FSDCCGQKPTGPGGPLIQNVHASKRILFSIVHDKSEKWDAFIKETEDINTLRECVQILFNSRYAEALGLDHMVPV
  PYRKIACDPEAVEIVGIPDKIPFKRPCTYGVPKLKRILEERHSIHFIIKRMFDERIFTGNKFTKDTTKLEPASPP
  EDTSAEVSRATVLDLAGNARSDKGSMSEDCGPGTSGELGGLRPIKIEPEDLDIIQVTVPDPSPTSEEMTDSMPGH
  LPSEDSGYGMEMLTDKGLSEDARPEERPVEDSHGDVIRPLRKQVELLFNTRYAKAIGISEPVKVPYSKFLMHPEE
  LFVVGLPEGISLRRPNCFGIAKLRKILEASNSIQFVIKRPELLTEGVKEPIMDSQGTASSLGFSPPALPPERDSG
  DPLVDESLKRQGFQENYDARLSRIDIANTLREQVQDLFNKKYGEALGIKYPVQVPYKRIKSNPGSVIIEGLPPGI
  PFRKPCTFGSQNLERILAVADKIKFTVTRPFQGLIPKPDEDDANRLGEKVILREQVKELFNEKYGEALGLNRPVL
  VPYKLIRDSPDAVEVTGLPDDIPFRNPNTYDIHRLEKILKAREHVRMVIINQLQPFAEICNDAKVPAKDSSIPKR
  KRKRVSEGNSVSSSSSSSSSSSSNPDSVASANQISLVQWPMYMVDYAGLNVQLPGPLNY

• Structural information:
  • Interpro: IPR004212  IPR036647  IPR016659  
  • Prosite: PS51139
  • PDB: 2D99 2DN5 2DZQ 2DZR
  • PDBsum: 2D99 2DN5 2DZQ 2DZR
  • STRING: ENSP00000397566
• Other Databases: GeneCards:  GTF2IRD1  Malacards:  GTF2IRD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006366	transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014886	transition between slow and fast fiber	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	NAS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	molecular function
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0005634	nucleus	NAS	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
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq