GTF2IRD1, GTF2I repeat domain containing 1

GTF2IRD1, GTF2I repeat domain containing 1

• 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]

• Gene Synonyms (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 repeat domain-containing protein 1 alpha 1, slow-muscle-fiber enhancer-binding protein, williams-Beuren syndrome chromosomal region 12 protein, BEN, CREAM1, GTF3, MUSTRD1, RBAP2, WBS, WBSCR11, WBSCR12, hMusTRD1alpha1,)
• NCBI Gene ID: 9569
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9UHL9
  UNIPROT ID#>>E9PFE2
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

GTF2I repeat domain containing 1 interacts with:

• activating transcription factor 7 interacting protein
  akirin 2
  AKNA domain containing 1
  armadillo repeat containing, X-linked 5
  ATPase secretory pathway Ca2+ transporting 1
  Bardet-Biedl syndrome 4 (human)
  centrosome and spindle pole associated protein 1
  chromobox 1
  chromobox 3
  chromobox 5
  cyclin dependent kinase 20
  DDB1 and CUL4 associated factor 15
  DDB1 and CUL4 associated factor 6
  DDB1 and CUL4 associated factor 6
  E74-like factor 2
  exosome component 4
  family with sequence similarity 47, member E
  F-box and WD repeat domain containing 11
  F-box and WD-40 domain protein 10
  forkhead-associated (FHA) phosphopeptide binding domain 1
  golgi reassembly stacking protein 2
  GTF2I repeat domain containing 2B
  heat shock transcription factor 2 binding protein
  homeodomain leucine zipper-encoding gene
  HtrA serine peptidase 4
  integrator complex subunit 12
  karyopherin (importin) alpha 2
  kinesin associated protein 3
  leucine rich repeats and IQ motif containing 1
  methyl-CpG binding domain protein 3 like 1
  Morf4 family associated protein 1 like 1
  nucleosome assembly protein 1-like 2
  oligophrenin 1
  PARP1 binding protein
  phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2
  protein inhibitor of activated STAT 1
  protein inhibitor of activated STAT 2
  protein phosphatase 2 regulatory subunit Bdelta
  selenoprotein S
  serine palmitoyltransferase long chain base subunit 1
  SET domain containing 6
  small glutamine rich tetratricopeptide repeat containing beta
  small ubiquitin-like modifier 3
  sodium channel modifier 1
  synaptotagmin binding cytoplasmic RNA interacting protein
  TATA-box binding protein associated factor, RNA polymerase I, B
  thyroid hormone receptor interactor 11
  torsin 1A interacting protein 1
  ubiquitin specific peptidase 20
  ubiquitin specific peptidase 33
  WASP family member 3
  zinc finger C4H2-type containing
  zinc finger, C4H2 domain containing
  zinc finger, MYM-type 2
  zinc finger, MYM-type 3
  zinc finger, MYM-type 5

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.